@article {pmid38453993, year = {2024}, author = {Bergfeldt, N and Kırdök, E and Oskolkov, N and Mirabello, C and Unneberg, P and Malmström, H and Fraser, M and Sanchez-Quinto, F and Jorgensen, R and Skar, B and Lidén, K and Jakobsson, M and Storå, J and Götherström, A}, title = {Identification of microbial pathogens in Neolithic Scandinavian humans.}, journal = {Scientific reports}, volume = {14}, number = {1}, pages = {5630}, pmid = {38453993}, issn = {2045-2322}, support = {2017-02503//Vetenskapsrådet/ ; 2019-00849//Vetenskapsrådet/ ; P21-0266//Riksbankens Jubileumsfond/ ; P19.0740:1//Riksbankens Jubileumsfond/ ; }, mesh = {Humans ; Agriculture ; *DNA, Mitochondrial/genetics ; Europe ; History, Ancient ; *Yersinia/classification/isolation & purification ; *Microbiota ; }, abstract = {With the Neolithic transition, human lifestyle shifted from hunting and gathering to farming. This change altered subsistence patterns, cultural expression, and population structures as shown by the archaeological/zooarchaeological record, as well as by stable isotope and ancient DNA data. Here, we used metagenomic data to analyse if the transitions also impacted the microbiome composition in 25 Mesolithic and Neolithic hunter-gatherers and 13 Neolithic farmers from several Scandinavian Stone Age cultural contexts. Salmonella enterica, a bacterium that may have been the cause of death for the infected individuals, was found in two Neolithic samples from Battle Axe culture contexts. Several species of the bacterial genus Yersinia were found in Neolithic individuals from Funnel Beaker culture contexts as well as from later Neolithic context. Transmission of e.g. Y. enterocolitica may have been facilitated by the denser populations in agricultural contexts.}, }
@article {pmid37932928, year = {2024}, author = {Kendler, KS and Klee, A}, title = {Bruno Schulz's 1936 book "Methodology of medical genetic research particularly with regard to psychiatry".}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {195}, number = {3}, pages = {e32963}, doi = {10.1002/ajmg.b.32963}, pmid = {37932928}, issn = {1552-485X}, mesh = {Male ; Humans ; *Psychiatry/history ; Eugenics/history ; Genetic Research ; Books ; Germany ; }, abstract = {In 1936, Bruno Schulz published the first detailed, book-length review of the methodology of psychiatric genetic research, based on his experiences at the German Research Institute of Psychiatry. Emphasis is placed on proper selection of relatives and the ascertainment corrections required for Mendelian transmission models. Twin studies are considered as is the impact of reduced fertility on patterns of risk. For the field work, Schulz emphasizes the importance of trust-building, confidentiality, collateral informants, and the use of medical and other administrative records, all ideally stored in personal files. Several methods of age-correction are reviewed. Schulz provides detailed algebraic treatments of these and other problems, including tests for etiologic homogeneity, with worked examples. He emphasizes two fundamental concerns in psychiatric genetics research: (i) its inter-dependency with the optimal diagnostic boundaries, which are rarely known and (ii) the genetic homogeneity of clinical samples. Given these problems, he is pessimistic about finding Mendelian transmission patterns. He assesses the predominant 19th-century method of psychiatric genetic investigation-"hereditary burden"-to be crude and biased by family size. Although written at a time of consolidation of Nazi power in Germany, this book nowhere endorses their racial/eugenic policies and can be seen as subtly questioning them.}, }
@article {pmid38030719, year = {2024}, author = {Fortes-Lima, CA and Burgarella, C and Hammarén, R and Eriksson, A and Vicente, M and Jolly, C and Semo, A and Gunnink, H and Pacchiarotti, S and Mundeke, L and Matonda, I and Muluwa, JK and Coutros, P and Nyambe, TS and Cikomola, JC and Coetzee, V and de Castro, M and Ebbesen, P and Delanghe, J and Stoneking, M and Barham, L and Lombard, M and Meyer, A and Steyn, M and Malmström, H and Rocha, J and Soodyall, H and Pakendorf, B and Bostoen, K and Schlebusch, CM}, title = {The genetic legacy of the expansion of Bantu-speaking peoples in Africa.}, journal = {Nature}, volume = {625}, number = {7995}, pages = {540-547}, pmid = {38030719}, issn = {1476-4687}, support = {/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Humans ; Africa, Western ; Datasets as Topic ; Democratic Republic of the Congo ; *DNA, Ancient/analysis ; *Emigration and Immigration/history ; Founder Effect ; Gene Flow/genetics ; Genetic Variation/genetics ; *Genetics, Population ; History, Ancient ; *Language/history ; Linguistics/history ; Zambia ; Geographic Mapping ; }, abstract = {The expansion of people speaking Bantu languages is the most dramatic demographic event in Late Holocene Africa and fundamentally reshaped the linguistic, cultural and biological landscape of the continent[1-7]. With a comprehensive genomic dataset, including newly generated data of modern-day and ancient DNA from previously unsampled regions in Africa, we contribute insights into this expansion that started 6,000-4,000 years ago in western Africa. We genotyped 1,763 participants, including 1,526 Bantu speakers from 147 populations across 14 African countries, and generated whole-genome sequences from 12 Late Iron Age individuals[8]. We show that genetic diversity amongst Bantu-speaking populations declines with distance from western Africa, with current-day Zambia and the Democratic Republic of Congo as possible crossroads of interaction. Using spatially explicit methods[9] and correlating genetic, linguistic and geographical data, we provide cross-disciplinary support for a serial-founder migration model. We further show that Bantu speakers received significant gene flow from local groups in regions they expanded into. Our genetic dataset provides an exhaustive modern-day African comparative dataset for ancient DNA studies[10] and will be important to a wide range of disciplines from science and humanities, as well as to the medical sector studying human genetic variation and health in African and African-descendant populations.}, }
@article {pmid37148220, year = {2023}, author = {Schioldann, J}, title = {Classic Text No. 135: 'On inheritance of the insanities', by Jens Chr. Smith (1924).}, journal = {History of psychiatry}, volume = {34}, number = {3}, pages = {350-362}, doi = {10.1177/0957154X231169217}, pmid = {37148220}, issn = {0957-154X}, mesh = {Humans ; History, 20th Century ; Adolescent ; *Psychotic Disorders/genetics/history ; *Psychiatry/history ; Translations ; }, abstract = {Serious and realistic research into the inheritance of the psychoses started in earnest at the beginning of the twentieth century. This was encouraged by both the acceptance of the Kraepelinian classification and the rediscovery of the Mendelian model of inheritance. The application of Mendelian rules to the very complex genetics of the psychoses led to agonizing debate. The Classic Text is a translation of the introduction of the doctoral thesis of Jens Chr. Smith, a little-known Danish psychiatrist who was able to summarize, with the enthusiasm typical to his youth and with surprising accuracy, the early stages of the debate mentioned above.}, }
@article {pmid37528090, year = {2023}, author = {Chyleński, M and Makarowicz, P and Juras, A and Krzewińska, M and Pospieszny, Ł and Ehler, E and Breszka, A and Górski, J and Taras, H and Szczepanek, A and Polańska, M and Włodarczak, P and Lasota-Kuś, A and Wójcik, I and Romaniszyn, J and Szmyt, M and Kośko, A and Ignaczak, M and Sadowski, S and Matoga, A and Grossman, A and Ilchyshyn, V and Yahodinska, MO and Romańska, A and Tunia, K and Przybyła, M and Grygiel, R and Szostek, K and Dabert, M and Götherström, A and Jakobsson, M and Malmström, H}, title = {Patrilocality and hunter-gatherer-related ancestry of populations in East-Central Europe during the Middle Bronze Age.}, journal = {Nature communications}, volume = {14}, number = {1}, pages = {4395}, pmid = {37528090}, issn = {2041-1723}, support = {2017/24/T/HS3/00511//Narodowe Centrum Nauki (National Science Centre)/ ; 2015/17/B/HS3/00114//Narodowe Centrum Nauki (National Science Centre)/ ; 2018/31/HS3/01326//Narodowe Centrum Nauki (National Science Centre)/ ; 2017/01/X/NZ8/01472//Narodowe Centrum Nauki (National Science Centre)/ ; 2014/15/D/HS3/01304//Narodowe Centrum Nauki (National Science Centre)/ ; 2017/27/B/HS3/01444//Narodowe Centrum Nauki (National Science Centre)/ ; M13-0904:1//Riksbankens Jubileumsfond (Stiftelsen Riksbankens Jubileumsfond)/ ; M13-0904:1//Riksbankens Jubileumsfond (Stiftelsen Riksbankens Jubileumsfond)/ ; M13-0904:1//Riksbankens Jubileumsfond (Stiftelsen Riksbankens Jubileumsfond)/ ; P21-0266//Riksbankens Jubileumsfond (Stiftelsen Riksbankens Jubileumsfond)/ ; 2017-02503//Vetenskapsrådet (Swedish Research Council)/ ; }, mesh = {Humans ; History, Ancient ; *Human Migration ; *Genome, Human/genetics ; Europe ; Poland ; Social Change ; }, abstract = {The demographic history of East-Central Europe after the Neolithic period remains poorly explored, despite this region being on the confluence of various ecological zones and cultural entities. Here, the descendants of societies associated with steppe pastoralists form Early Bronze Age were followed by Middle Bronze Age populations displaying unique characteristics. Particularly, the predominance of collective burials, the scale of which, was previously seen only in the Neolithic. The extent to which this re-emergence of older traditions is a result of genetic shift or social changes in the MBA is a subject of debate. Here by analysing 91 newly generated genomes from Bronze Age individuals from present Poland and Ukraine, we discovered that Middle Bronze Age populations were formed by an additional admixture event involving a population with relatively high proportions of genetic component associated with European hunter-gatherers and that their social structure was based on, primarily patrilocal, multigenerational kin-groups.}, }
@article {pmid37286608, year = {2023}, author = {Simões, LG and Günther, T and Martínez-Sánchez, RM and Vera-Rodríguez, JC and Iriarte, E and Rodríguez-Varela, R and Bokbot, Y and Valdiosera, C and Jakobsson, M}, title = {Northwest African Neolithic initiated by migrants from Iberia and Levant.}, journal = {Nature}, volume = {618}, number = {7965}, pages = {550-556}, pmid = {37286608}, issn = {1476-4687}, mesh = {Humans ; Africa, Northern ; *Agriculture/history ; *Archaeology ; Europe/ethnology ; Farmers/history ; Genome, Human/genetics ; Genomics ; History, Ancient ; *Human Migration/history ; *Transients and Migrants/history ; Africa, Western ; Diffusion of Innovation ; }, abstract = {In northwestern Africa, lifestyle transitioned from foraging to food production around 7,400 years ago but what sparked that change remains unclear. Archaeological data support conflicting views: (1) that migrant European Neolithic farmers brought the new way of life to North Africa[1-3] or (2) that local hunter-gatherers adopted technological innovations[4,5]. The latter view is also supported by archaeogenetic data[6]. Here we fill key chronological and archaeogenetic gaps for the Maghreb, from Epipalaeolithic to Middle Neolithic, by sequencing the genomes of nine individuals (to between 45.8- and 0.2-fold genome coverage). Notably, we trace 8,000 years of population continuity and isolation from the Upper Palaeolithic, via the Epipaleolithic, to some Maghrebi Neolithic farming groups. However, remains from the earliest Neolithic contexts showed mostly European Neolithic ancestry. We suggest that farming was introduced by European migrants and was then rapidly adopted by local groups. During the Middle Neolithic a new ancestry from the Levant appears in the Maghreb, coinciding with the arrival of pastoralism in the region, and all three ancestries blend together during the Late Neolithic. Our results show ancestry shifts in the Neolithization of northwestern Africa that probably mirrored a heterogeneous economic and cultural landscape, in a more multifaceted process than observed in other regions.}, }
@article {pmid37068234, year = {2023}, author = {Cohen, P and Bacilieri, R and Ramos-Madrigal, J and Privman, E and Boaretto, E and Weber, A and Fuks, D and Weiss, E and Erickson-Gini, T and Bucking, S and Tepper, Y and Cvikel, D and Schmidt, J and Gilbert, MTP and Wales, N and Bar-Oz, G and Meiri, M}, title = {Ancient DNA from a lost Negev Highlands desert grape reveals a Late Antiquity wine lineage.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {120}, number = {17}, pages = {e2213563120}, pmid = {37068234}, issn = {1091-6490}, mesh = {History, Ancient ; *Vitis/genetics ; *Wine ; DNA, Ancient ; Archaeology ; Israel ; }, abstract = {Recent excavations of Late Antiquity settlements in the Negev Highlands of southern Israel uncovered a society that established commercial-scale viticulture in an arid environment [D. Fuks et al., Proc. Natl. Acad. Sci. U.S.A. 117, 19780-19791 (2020)]. We applied target-enriched genome-wide sequencing and radiocarbon dating to examine grapevine pips that were excavated at three of these sites. Our analyses revealed centuries long and continuous grape cultivation in the Southern Levant. The genetically diverse pips also provided clues to ancient cultivation strategies aimed at improving agricultural productivity and ensuring food security. Applying genomic prediction analysis, a pip dated to the eighth century CE was determined to likely be from a white grape, to date the oldest to be identified. In a kinship analysis, another pip was found to be descendant from a modern Greek cultivar and was thus linked with several popular historic wines that were once traded across the Byzantine Empire. These findings shed light on historical Byzantine trading networks and on the genetic contribution of Levantine varieties to the classic Aegean landscape.}, }
@article {pmid36946062, year = {2023}, author = {Ptushenko, VV and Ramensky, EV}, title = {Biologist Nikolai K. Koltzoff: the forgotten genius.}, journal = {Genetics}, volume = {224}, number = {1}, pages = {}, doi = {10.1093/genetics/iyad033}, pmid = {36946062}, issn = {1943-2631}, mesh = {Animals ; History, 20th Century ; *Heredity ; Russia ; Biological Evolution ; Mutagenesis ; *Bombyx ; }, abstract = {Nikolai K. Koltzoff (Koltsov) (1872-1940) is one of the key figures in Russian biology. He essentially initiated Russian physicochemical biology and established a large scientific school in the area. Among his disciples, there are the geneticists B.L. Astaurov, S.S. Chetverikov, N.P. Dubinin, V.P. Efroimson, I.A. Rapoport, V.V. Sakharov, and N.V. Timofeeff-Ressovsky; histologist G.I. Roskin, experimental surgeon A.G. Lapchinsky, developmental biologist M.M. Zavadovsky, physiologist L.V. Krushinsky, microbiologist S.M. Gershenson, biochemist V.A. Engelhardt, hydrobiologist G.G. Vinberg, cytologist M.A. Peshkov, and many other famous Soviet biologists. He made several fundamental discoveries; the first of them was the discovery of the cytoskeleton (1903). He was the first to formulate the idea of a crystal-like mechanism for copying inherited information (1927) and the principles of epigenetics (as well as the term itself, in 1934; it seems astonishing, but as early as 1915, he hypothesized that the gene methylation might be a mechanism of genetic variability). He started the work which later led his disciples V.V. Sakharov and I.A. Rapoport to the discovery of chemical mutagenesis. His research on sex regulation in silkworms was later successfully continued by B.L. Astaurov. Koltzoff encouraged S.S. Chetverikov, the entomologist, to study the genetics of natural Drosophila populations, which went on to form the basis of the Modern Synthesis reconciling Darwinian evolutionary theory and the Mendelian laws of heredity. Unfortunately, the name of N.K. Koltzoff has almost sunk into oblivion. This is largely due to the fact that mentioning his name was prohibited in the USSR over a long period of time, since he was a staunch opponent of Lysenko. In this paper dedicated to the 150th anniversary of Koltzoff, we briefly describe the milestones of the life and scientific research of this outstanding biologist and his scientific school.}, }
@article {pmid36943805, year = {2023}, author = {van Dijk, PJ and Noel Ellis, TH}, title = {Gregor Mendel and the theory of species multiplication.}, journal = {Genetics}, volume = {224}, number = {2}, pages = {}, doi = {10.1093/genetics/iyad046}, pmid = {36943805}, issn = {1943-2631}, mesh = {History, 19th Century ; Phenotype ; *Hybridization, Genetic ; Inheritance Patterns ; Peas/genetics ; Databases, Genetic ; *Genetics ; }, abstract = {According to the revisionist interpretation of Mendel's pea crosses, his primary aim was not to study the inheritance of traits. Instead, he was interested in the question raised by Linnaeus as to whether new species could arise from the hybridization of existing species. The genetic interpretation is therefore seen as ahistorical by the revisionists. This view goes back to the 1979 article "Mendel no Mendelian?" by the historian of science R.C. Olby. A closer analysis shows that Olby implicitly assumed Mendel adhered to the unusual strictest species definition for Pisum. However, we argue that Mendel only mentions the hypothetical application of this strict definition in his 1866 paper. Like most of his contemporaries, Mendel accepted variation within species where the differences between varieties and species were a matter of degree. After researching variable hybrids in peas (Pisum; 1854-1863), Mendel also studied constant hybrids in hawkweeds (Hieracium; 1866-1873), which he considered to be new species. There is no debate about the latter, but the matter becomes muddled because Olby lumps Pisum and Hieracium together, despite their having completely different reproduction systems. Based on newly discovered historical sources, we also dispute several other assumptions made by Olby. We do not consider Olby's claim that Mendel conducted the Pisum experiments to investigate species multiplication to be tenable.}, }
@article {pmid36847224, year = {2023}, author = {Kendler, KS and Klee, A}, title = {The era of the Dawn of Mendelian research in the field of psychiatry: Rüdin's 1922 review paper "regarding the heredity of mental disturbances".}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {192}, number = {3-4}, pages = {53-61}, doi = {10.1002/ajmg.b.32934}, pmid = {36847224}, issn = {1552-485X}, mesh = {Humans ; History, 20th Century ; Eugenics ; *Heredity ; *Mental Disorders ; *Bipolar Disorder ; *Psychiatry ; Germany ; }, abstract = {On September 27, 1922, Ernst Rüdin gave an address to the Annual Conference of the German Society of Genetics entitled "Regarding the Heredity of Mental Disturbances." Published in a 37-page article, Rüdin reviewed the progress in the field of Mendelian psychiatric genetics, then hardly more than a decade old. Topics included (a) the status of Mendelian analyses of dementia praecox and manic-depressive insanity which had expanded to include two and three locus and early polygenic models and sometimes included, respectively, schizoid and cyclothymic personalities; (b) a critique of theories for the explanation of co-occurrence of different psychiatric disorders within families; and (c) a sharp methodologic critique of Davenport and Rosanoff's contemporary work which emphasized Rüdin's commitment to careful, expert phenotyping, a primary focus on well-validated psychiatric disorders and not broad spectra of putatively inter-related conditions, and an emphasis on rigorous statistical modeling as seen in his continued collaboration with Wilhelm Weinberg.}, }
@article {pmid36649403, year = {2023}, author = {Pearson, J and Evans, J and Lamb, A and Baird, D and Hodder, I and Marciniak, A and Larsen, CS and Knüsel, CJ and Haddow, SD and Pilloud, MA and Bogaard, A and Fairbairn, A and Plug, JH and Mazzucato, C and Mustafaoğlu, G and Feldman, M and Somel, M and Fernández-Domínguez, E}, title = {Mobility and kinship in the world's first village societies.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {120}, number = {4}, pages = {e2209480119}, pmid = {36649403}, issn = {1091-6490}, mesh = {Humans ; History, Ancient ; *Social Behavior ; *Life Style ; Turkey ; Strontium ; Sedentary Behavior ; }, abstract = {Around 10,000 y ago in southwest Asia, the cessation of a mobile lifestyle and the emergence of the first village communities during the Neolithic marked a fundamental change in human history. The first communities were small (tens to hundreds of individuals) but remained semisedentary. So-called megasites appeared soon after, occupied by thousands of more sedentary inhabitants. Accompanying this shift, the material culture and ancient ecological data indicate profound changes in economic and social behavior. A shift from residential to logistical mobility and increasing population size are clear and can be explained by either changes in fertility and/or aggregation of local groups. However, as sedentism increased, small early communities likely risked inbreeding without maintaining or establishing exogamous relationships typical of hunter-gatherers. Megasites, where large populations would have made endogamy sustainable, could have avoided this risk. To examine the role of kinship practices in the rise of megasites, we measured strontium and oxygen isotopes in tooth enamel from 99 individuals buried at Pınarbaşı, Boncuklu, and Çatalhöyük (Turkey) over 7,000 y. These sites are geographically proximate and, critically, span both early sedentary behaviors (Pınarbaşı and Boncuklu) and the rise of a local megasite (Çatalhöyük). Our data are consistent with the presence of only local individuals at Pınarbaşı and Boncuklu, whereas at Çatalhöyük, several nonlocals are present. The Çatalhöyük data stand in contrast to other megasites where bioarchaeological evidence has pointed to strict endogamy. These different kinship behaviors suggest that megasites may have arisen by employing unique, community-specific kinship practices.}, }
@article {pmid36493775, year = {2023}, author = {Koptekin, D and Yüncü, E and Rodríguez-Varela, R and Altınışık, NE and Psonis, N and Kashuba, N and Yorulmaz, S and George, R and Kazancı, DD and Kaptan, D and Gürün, K and Vural, KB and Gemici, HC and Vassou, D and Daskalaki, E and Karamurat, C and Lagerholm, VK and Erdal, ÖD and Kırdök, E and Marangoni, A and Schachner, A and Üstündağ, H and Shengelia, R and Bitadze, L and Elashvili, M and Stravopodi, E and Özbaşaran, M and Duru, G and Nafplioti, A and Rose, CB and Gencer, T and Darbyshire, G and Gavashelishvili, A and Pitskhelauri, K and Çevik, Ö and Vuruşkan, O and Kyparissi-Apostolika, N and Büyükkarakaya, AM and Oğuzhanoğlu, U and Günel, S and Tabakaki, E and Aliev, A and Ibrahimov, A and Shadlinski, V and Sampson, A and Kılınç, GM and Atakuman, Ç and Stamatakis, A and Poulakakis, N and Erdal, YS and Pavlidis, P and Storå, J and Özer, F and Götherström, A and Somel, M}, title = {Spatial and temporal heterogeneity in human mobility patterns in Holocene Southwest Asia and the East Mediterranean.}, journal = {Current biology : CB}, volume = {33}, number = {1}, pages = {41-57.e15}, pmid = {36493775}, issn = {1879-0445}, mesh = {Humans ; Male ; History, Ancient ; *Racial Groups ; Iran ; *Genome, Human ; Gene Flow ; Human Migration ; Genetics, Population ; }, abstract = {We present a spatiotemporal picture of human genetic diversity in Anatolia, Iran, Levant, South Caucasus, and the Aegean, a broad region that experienced the earliest Neolithic transition and the emergence of complex hierarchical societies. Combining 35 new ancient shotgun genomes with 382 ancient and 23 present-day published genomes, we found that genetic diversity within each region steadily increased through the Holocene. We further observed that the inferred sources of gene flow shifted in time. In the first half of the Holocene, Southwest Asian and the East Mediterranean populations homogenized among themselves. Starting with the Bronze Age, however, regional populations diverged from each other, most likely driven by gene flow from external sources, which we term "the expanding mobility model." Interestingly, this increase in inter-regional divergence can be captured by outgroup-f3-based genetic distances, but not by the commonly used FST statistic, due to the sensitivity of FST, but not outgroup-f3, to within-population diversity. Finally, we report a temporal trend of increasing male bias in admixture events through the Holocene.}, }
@article {pmid36260544, year = {2022}, author = {Kendler, KS and Klee, A}, title = {Hermann Hoffmann's 1921 Monograph: "The Offspring of Endogenous Psychoses: Genealogical-Characterological Examinations".}, journal = {Schizophrenia bulletin}, volume = {48}, number = {Suppl 1}, pages = {S20-S27}, pmid = {36260544}, issn = {1745-1701}, mesh = {Adult ; Humans ; Eugenics ; *Psychotic Disorders ; }, abstract = {Five years after the publication of Rüdin's major sibling study, Hermann Hoffmann, working with Rüdin, performed the first systematic study of the risk for dementia praecox (DP) in offspring of DP probands. Field work was limited to 3 months. Hoffmann ascertained families with at least one parent with certain DP, after Kraepelin, with children the youngest of whom were at least 30 years old. These families contained 103 offspring 30 years or older of whom 7 had definite DP and two possible DP for an estimated risk of 6.8%-8.7%. Hoffmann assessed schizoidia in these children, reporting the quite high risk figure of 47.6%. Hoffmann explored a wide range of two and three locus recessive models in his modest sample. He finds Rüdin's two locus recessive model at the boundary of his results and then reviews three additional more complex models. The simplest is a three-locus recessive model which fits his data better. He also explores an oligogenic three locus model with risk classes of individuals with 1 to 6 risk alleles and an epistatic model where two loci form a di-recessive model for schizoidia, and the third locus is a dominant required for the expression of psychosis. Hoffman questioned whether DP was a "unit-character" appropriate for Mendelian analysis and advocated for a much larger study of offspring. His work should be appreciated in light of his enthusiastic endorsement of Nazi eugenic goals.}, }
@article {pmid36260542, year = {2022}, author = {Kendler, KS and Klee, A}, title = {Rüdin's 1916 Monograph: On the Inheritance and Primary Origin of Dementia Praecox.}, journal = {Schizophrenia bulletin}, volume = {48}, number = {Suppl 1}, pages = {S8-S19}, pmid = {36260542}, issn = {1745-1701}, mesh = {Male ; Humans ; Eugenics ; *Psychotic Disorders ; Risk Factors ; Morbidity ; *Schizophrenia/genetics ; }, abstract = {In 1916, Ernst Rüdin published the first modern family study in the history of psychiatric genetics, the major goal of which was to test whether the pattern of risk in the siblings of dementia praecox (DP) probands followed Mendelian expectations. He utilized systematic ascertainment of probands and multisourced diagnostic assessments of probands and relatives, applying the narrow Kraepelinian concept of DP. In a novel step, he collaborated closely with a statistical geneticist-Wilhelm Weinberg-and applied his sibling, proband, and age correction methods. In his key sample-701 sibships when neither parent had DP-the morbid risk for DP in siblings was 4.48%, much lower than 25% expected for a recessive disorder. Risk for DP was increased by alcoholism or other mental disorders in parents. Other non-DP psychoses were common in both siblings and parents of DP probands. Rüdin discussed several alternative genetic models for DP including a 2-locus recessive, incomplete penetrance, and an oligogenic model. The high rates of other psychoses and psychopathic personalities in relatives might arise, he suggested, because these disorders shared genetic risks with DP. Rüdin established that DP, when carefully studied, ran in families, did not have a simple Mendelian genetic transmission pattern, and appeared likely to be genetically related to other non-DP psychotic disorders and perhaps some kinds of psychopathic personalities. This study, the most important in Rüdin's career, should be viewed in the context of his later extensive support of and collaboration with Nazi eugenic policies.}, }
@article {pmid36191217, year = {2022}, author = {Reitsema, LJ and Mittnik, A and Kyle, B and Catalano, G and Fabbri, PF and Kazmi, ACS and Reinberger, KL and Sineo, L and Vassallo, S and Bernardos, R and Broomandkhoshbacht, N and Callan, K and Candilio, F and Cheronet, O and Curtis, E and Fernandes, D and Lari, M and Lawson, AM and Mah, M and Mallick, S and Mandl, K and Micco, A and Modi, A and Oppenheimer, J and Özdogan, KT and Rohland, N and Stewardson, K and Vai, S and Vergata, C and Workman, JN and Zalzala, F and Zaro, V and Achilli, A and Anagnostopoulos, A and Capelli, C and Constantinou, V and Lancioni, H and Olivieri, A and Papadopoulou, A and Psatha, N and Semino, O and Stamatoyannopoulos, J and Valliannou, I and Yannaki, E and Lazaridis, I and Patterson, N and Ringbauer, H and Caramelli, D and Pinhasi, R and Reich, D}, title = {The diverse genetic origins of a Classical period Greek army.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {41}, pages = {e2205272119}, pmid = {36191217}, issn = {1091-6490}, support = {R01 HG012287/HG/NHGRI NIH HHS/United States ; n/a//Howard Hughes Medical Institute (HHMI)/ ; }, mesh = {*Archaeology/methods ; Europe ; Greece ; History, Ancient ; Humans ; *Military Personnel ; Warfare ; }, abstract = {Trade and colonization caused an unprecedented increase in Mediterranean human mobility in the first millennium BCE. Often seen as a dividing force, warfare is in fact another catalyst of culture contact. We provide insight into the demographic dynamics of ancient warfare by reporting genome-wide data from fifth-century soldiers who fought for the army of the Greek Sicilian colony of Himera, along with representatives of the civilian population, nearby indigenous settlements, and 96 present-day individuals from Italy and Greece. Unlike the rest of the sample, many soldiers had ancestral origins in northern Europe, the Steppe, and the Caucasus. Integrating genetic, archaeological, isotopic, and historical data, these results illustrate the significant role mercenaries played in ancient Greek armies and highlight how participation in war contributed to continental-scale human mobility in the Classical world.}, }
@article {pmid36086833, year = {2022}, author = {Löwy, I}, title = {Precision Medicine: Historiography of Life Sciences and the Geneticization of the Clinics.}, journal = {Berichte zur Wissenschaftsgeschichte}, volume = {45}, number = {3}, pages = {487-498}, pmid = {36086833}, issn = {1522-2365}, mesh = {*Biological Science Disciplines ; *Historiography ; Molecular Biology ; Precision Medicine ; }, abstract = {In 2013, Hans Jörg Rheinberger proposed that Mendelian genetics and molecular biology were "scientific ideologies," that is, for him they are systems of thought whose objects are hyperbolic; they are not, or not yet, in the realm of and not, or not yet, under the control of that system. This article proposes that precision medicine today is a scientific ideology and analyses the implications of this statement for historians of biology, genetics, and medicine.}, }
@article {pmid36007055, year = {2022}, author = {Lazaridis, I and Alpaslan-Roodenberg, S and Acar, A and Açıkkol, A and Agelarakis, A and Aghikyan, L and Akyüz, U and Andreeva, D and Andrijašević, G and Antonović, D and Armit, I and Atmaca, A and Avetisyan, P and Aytek, Aİ and Bacvarov, K and Badalyan, R and Bakardzhiev, S and Balen, J and Bejko, L and Bernardos, R and Bertsatos, A and Biber, H and Bilir, A and Bodružić, M and Bonogofsky, M and Bonsall, C and Borić, D and Borovinić, N and Bravo Morante, G and Buttinger, K and Callan, K and Candilio, F and Carić, M and Cheronet, O and Chohadzhiev, S and Chovalopoulou, ME and Chryssoulaki, S and Ciobanu, I and Čondić, N and Constantinescu, M and Cristiani, E and Culleton, BJ and Curtis, E and Davis, J and Demcenco, TI and Dergachev, V and Derin, Z and Deskaj, S and Devejyan, S and Djordjević, V and Duffett Carlson, KS and Eccles, LR and Elenski, N and Engin, A and Erdoğan, N and Erir-Pazarcı, S and Fernandes, DM and Ferry, M and Freilich, S and Frînculeasa, A and Galaty, ML and Gamarra, B and Gasparyan, B and Gaydarska, B and Genç, E and Gültekin, T and Gündüz, S and Hajdu, T and Heyd, V and Hobosyan, S and Hovhannisyan, N and Iliev, I and Iliev, L and Iliev, S and İvgin, İ and Janković, I and Jovanova, L and Karkanas, P and Kavaz-Kındığılı, B and Kaya, EH and Keating, D and Kennett, DJ and Deniz Kesici, S and Khudaverdyan, A and Kiss, K and Kılıç, S and Klostermann, P and Kostak Boca Negra Valdes, S and Kovačević, S and Krenz-Niedbała, M and Krznarić Škrivanko, M and Kurti, R and Kuzman, P and Lawson, AM and Lazar, C and Leshtakov, K and Levy, TE and Liritzis, I and Lorentz, KO and Łukasik, S and Mah, M and Mallick, S and Mandl, K and Martirosyan-Olshansky, K and Matthews, R and Matthews, W and McSweeney, K and Melikyan, V and Micco, A and Michel, M and Milašinović, L and Mittnik, A and Monge, JM and Nekhrizov, G and Nicholls, R and Nikitin, AG and Nikolov, V and Novak, M and Olalde, I and Oppenheimer, J and Osterholtz, A and Özdemir, C and Özdoğan, KT and Öztürk, N and Papadimitriou, N and Papakonstantinou, N and Papathanasiou, A and Paraman, L and Paskary, EG and Patterson, N and Petrakiev, I and Petrosyan, L and Petrova, V and Philippa-Touchais, A and Piliposyan, A and Pocuca Kuzman, N and Potrebica, H and Preda-Bălănică, B and Premužić, Z and Price, TD and Qiu, L and Radović, S and Raeuf Aziz, K and Rajić Šikanjić, P and Rasheed Raheem, K and Razumov, S and Richardson, A and Roodenberg, J and Ruka, R and Russeva, V and Şahin, M and Şarbak, A and Savaş, E and Schattke, C and Schepartz, L and Selçuk, T and Sevim-Erol, A and Shamoon-Pour, M and Shephard, HM and Sideris, A and Simalcsik, A and Simonyan, H and Sinika, V and Sirak, K and Sirbu, G and Šlaus, M and Soficaru, A and Söğüt, B and Sołtysiak, A and Sönmez-Sözer, Ç and Stathi, M and Steskal, M and Stewardson, K and Stocker, S and Suata-Alpaslan, F and Suvorov, A and Szécsényi-Nagy, A and Szeniczey, T and Telnov, N and Temov, S and Todorova, N and Tota, U and Touchais, G and Triantaphyllou, S and Türker, A and Ugarković, M and Valchev, T and Veljanovska, F and Videvski, Z and Virag, C and Wagner, A and Walsh, S and Włodarczak, P and Workman, JN and Yardumian, A and Yarovoy, E and Yavuz, AY and Yılmaz, H and Zalzala, F and Zettl, A and Zhang, Z and Çavuşoğlu, R and Rohland, N and Pinhasi, R and Reich, D and Davtyan, R}, title = {The genetic history of the Southern Arc: A bridge between West Asia and Europe.}, journal = {Science (New York, N.Y.)}, volume = {377}, number = {6609}, pages = {eabm4247}, pmid = {36007055}, issn = {1095-9203}, support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; }, mesh = {Asia ; Balkan Peninsula ; Europe ; *Gene Flow ; *Genome, Human ; History, Ancient ; *Human Migration/history ; Humans ; White People/genetics ; }, abstract = {By sequencing 727 ancient individuals from the Southern Arc (Anatolia and its neighbors in Southeastern Europe and West Asia) over 10,000 years, we contextualize its Chalcolithic period and Bronze Age (about 5000 to 1000 BCE), when extensive gene flow entangled it with the Eurasian steppe. Two streams of migration transmitted Caucasus and Anatolian/Levantine ancestry northward, and the Yamnaya pastoralists, formed on the steppe, then spread southward into the Balkans and across the Caucasus into Armenia, where they left numerous patrilineal descendants. Anatolia was transformed by intra-West Asian gene flow, with negligible impact of the later Yamnaya migrations. This contrasts with all other regions where Indo-European languages were spoken, suggesting that the homeland of the Indo-Anatolian language family was in West Asia, with only secondary dispersals of non-Anatolian Indo-Europeans from the steppe.}, }
@article {pmid36007054, year = {2022}, author = {Lazaridis, I and Alpaslan-Roodenberg, S and Acar, A and Açıkkol, A and Agelarakis, A and Aghikyan, L and Akyüz, U and Andreeva, D and Andrijašević, G and Antonović, D and Armit, I and Atmaca, A and Avetisyan, P and Aytek, Aİ and Bacvarov, K and Badalyan, R and Bakardzhiev, S and Balen, J and Bejko, L and Bernardos, R and Bertsatos, A and Biber, H and Bilir, A and Bodružić, M and Bonogofsky, M and Bonsall, C and Borić, D and Borovinić, N and Bravo Morante, G and Buttinger, K and Callan, K and Candilio, F and Carić, M and Cheronet, O and Chohadzhiev, S and Chovalopoulou, ME and Chryssoulaki, S and Ciobanu, I and Čondić, N and Constantinescu, M and Cristiani, E and Culleton, BJ and Curtis, E and Davis, J and Demcenco, TI and Dergachev, V and Derin, Z and Deskaj, S and Devejyan, S and Djordjević, V and Duffett Carlson, KS and Eccles, LR and Elenski, N and Engin, A and Erdoğan, N and Erir-Pazarcı, S and Fernandes, DM and Ferry, M and Freilich, S and Frînculeasa, A and Galaty, ML and Gamarra, B and Gasparyan, B and Gaydarska, B and Genç, E and Gültekin, T and Gündüz, S and Hajdu, T and Heyd, V and Hobosyan, S and Hovhannisyan, N and Iliev, I and Iliev, L and Iliev, S and İvgin, İ and Janković, I and Jovanova, L and Karkanas, P and Kavaz-Kındığılı, B and Kaya, EH and Keating, D and Kennett, DJ and Deniz Kesici, S and Khudaverdyan, A and Kiss, K and Kılıç, S and Klostermann, P and Kostak Boca Negra Valdes, S and Kovačević, S and Krenz-Niedbała, M and Krznarić Škrivanko, M and Kurti, R and Kuzman, P and Lawson, AM and Lazar, C and Leshtakov, K and Levy, TE and Liritzis, I and Lorentz, KO and Łukasik, S and Mah, M and Mallick, S and Mandl, K and Martirosyan-Olshansky, K and Matthews, R and Matthews, W and McSweeney, K and Melikyan, V and Micco, A and Michel, M and Milašinović, L and Mittnik, A and Monge, JM and Nekhrizov, G and Nicholls, R and Nikitin, AG and Nikolov, V and Novak, M and Olalde, I and Oppenheimer, J and Osterholtz, A and Özdemir, C and Özdoğan, KT and Öztürk, N and Papadimitriou, N and Papakonstantinou, N and Papathanasiou, A and Paraman, L and Paskary, EG and Patterson, N and Petrakiev, I and Petrosyan, L and Petrova, V and Philippa-Touchais, A and Piliposyan, A and Pocuca Kuzman, N and Potrebica, H and Preda-Bălănică, B and Premužić, Z and Price, TD and Qiu, L and Radović, S and Raeuf Aziz, K and Rajić Šikanjić, P and Rasheed Raheem, K and Razumov, S and Richardson, A and Roodenberg, J and Ruka, R and Russeva, V and Şahin, M and Şarbak, A and Savaş, E and Schattke, C and Schepartz, L and Selçuk, T and Sevim-Erol, A and Shamoon-Pour, M and Shephard, HM and Sideris, A and Simalcsik, A and Simonyan, H and Sinika, V and Sirak, K and Sirbu, G and Šlaus, M and Soficaru, A and Söğüt, B and Sołtysiak, A and Sönmez-Sözer, Ç and Stathi, M and Steskal, M and Stewardson, K and Stocker, S and Suata-Alpaslan, F and Suvorov, A and Szécsényi-Nagy, A and Szeniczey, T and Telnov, N and Temov, S and Todorova, N and Tota, U and Touchais, G and Triantaphyllou, S and Türker, A and Ugarković, M and Valchev, T and Veljanovska, F and Videvski, Z and Virag, C and Wagner, A and Walsh, S and Włodarczak, P and Workman, JN and Yardumian, A and Yarovoy, E and Yavuz, AY and Yılmaz, H and Zalzala, F and Zettl, A and Zhang, Z and Çavuşoğlu, R and Rohland, N and Pinhasi, R and Reich, D and Davtyan, R}, title = {Ancient DNA from Mesopotamia suggests distinct Pre-Pottery and Pottery Neolithic migrations into Anatolia.}, journal = {Science (New York, N.Y.)}, volume = {377}, number = {6609}, pages = {982-987}, pmid = {36007054}, issn = {1095-9203}, support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Archaeology ; Armenia ; Cyprus ; DNA, Ancient ; *Farmers/history ; *Gene Flow ; History, Ancient ; *Human Migration/history ; Mesopotamia ; }, abstract = {We present the first ancient DNA data from the Pre-Pottery Neolithic of Mesopotamia (Southeastern Turkey and Northern Iraq), Cyprus, and the Northwestern Zagros, along with the first data from Neolithic Armenia. We show that these and neighboring populations were formed through admixture of pre-Neolithic sources related to Anatolian, Caucasus, and Levantine hunter-gatherers, forming a Neolithic continuum of ancestry mirroring the geography of West Asia. By analyzing Pre-Pottery and Pottery Neolithic populations of Anatolia, we show that the former were derived from admixture between Mesopotamian-related and local Epipaleolithic-related sources, but the latter experienced additional Levantine-related gene flow, thus documenting at least two pulses of migration from the Fertile Crescent heartland to the early farmers of Anatolia.}, }
@article {pmid36007020, year = {2022}, author = {Lazaridis, I and Alpaslan-Roodenberg, S and Acar, A and Açıkkol, A and Agelarakis, A and Aghikyan, L and Akyüz, U and Andreeva, D and Andrijašević, G and Antonović, D and Armit, I and Atmaca, A and Avetisyan, P and Aytek, Aİ and Bacvarov, K and Badalyan, R and Bakardzhiev, S and Balen, J and Bejko, L and Bernardos, R and Bertsatos, A and Biber, H and Bilir, A and Bodružić, M and Bonogofsky, M and Bonsall, C and Borić, D and Borovinić, N and Bravo Morante, G and Buttinger, K and Callan, K and Candilio, F and Carić, M and Cheronet, O and Chohadzhiev, S and Chovalopoulou, ME and Chryssoulaki, S and Ciobanu, I and Čondić, N and Constantinescu, M and Cristiani, E and Culleton, BJ and Curtis, E and Davis, J and Demcenco, TI and Dergachev, V and Derin, Z and Deskaj, S and Devejyan, S and Djordjević, V and Duffett Carlson, KS and Eccles, LR and Elenski, N and Engin, A and Erdoğan, N and Erir-Pazarcı, S and Fernandes, DM and Ferry, M and Freilich, S and Frînculeasa, A and Galaty, ML and Gamarra, B and Gasparyan, B and Gaydarska, B and Genç, E and Gültekin, T and Gündüz, S and Hajdu, T and Heyd, V and Hobosyan, S and Hovhannisyan, N and Iliev, I and Iliev, L and Iliev, S and İvgin, İ and Janković, I and Jovanova, L and Karkanas, P and Kavaz-Kındığılı, B and Kaya, EH and Keating, D and Kennett, DJ and Deniz Kesici, S and Khudaverdyan, A and Kiss, K and Kılıç, S and Klostermann, P and Kostak Boca Negra Valdes, S and Kovačević, S and Krenz-Niedbała, M and Krznarić Škrivanko, M and Kurti, R and Kuzman, P and Lawson, AM and Lazar, C and Leshtakov, K and Levy, TE and Liritzis, I and Lorentz, KO and Łukasik, S and Mah, M and Mallick, S and Mandl, K and Martirosyan-Olshansky, K and Matthews, R and Matthews, W and McSweeney, K and Melikyan, V and Micco, A and Michel, M and Milašinović, L and Mittnik, A and Monge, JM and Nekhrizov, G and Nicholls, R and Nikitin, AG and Nikolov, V and Novak, M and Olalde, I and Oppenheimer, J and Osterholtz, A and Özdemir, C and Özdoğan, KT and Öztürk, N and Papadimitriou, N and Papakonstantinou, N and Papathanasiou, A and Paraman, L and Paskary, EG and Patterson, N and Petrakiev, I and Petrosyan, L and Petrova, V and Philippa-Touchais, A and Piliposyan, A and Pocuca Kuzman, N and Potrebica, H and Preda-Bălănică, B and Premužić, Z and Price, TD and Qiu, L and Radović, S and Raeuf Aziz, K and Rajić Šikanjić, P and Rasheed Raheem, K and Razumov, S and Richardson, A and Roodenberg, J and Ruka, R and Russeva, V and Şahin, M and Şarbak, A and Savaş, E and Schattke, C and Schepartz, L and Selçuk, T and Sevim-Erol, A and Shamoon-Pour, M and Shephard, HM and Sideris, A and Simalcsik, A and Simonyan, H and Sinika, V and Sirak, K and Sirbu, G and Šlaus, M and Soficaru, A and Söğüt, B and Sołtysiak, A and Sönmez-Sözer, Ç and Stathi, M and Steskal, M and Stewardson, K and Stocker, S and Suata-Alpaslan, F and Suvorov, A and Szécsényi-Nagy, A and Szeniczey, T and Telnov, N and Temov, S and Todorova, N and Tota, U and Touchais, G and Triantaphyllou, S and Türker, A and Ugarković, M and Valchev, T and Veljanovska, F and Videvski, Z and Virag, C and Wagner, A and Walsh, S and Włodarczak, P and Workman, JN and Yardumian, A and Yarovoy, E and Yavuz, AY and Yılmaz, H and Zalzala, F and Zettl, A and Zhang, Z and Çavuşoğlu, R and Rohland, N and Pinhasi, R and Reich, D and Davtyan, R}, title = {A genetic probe into the ancient and medieval history of Southern Europe and West Asia.}, journal = {Science (New York, N.Y.)}, volume = {377}, number = {6609}, pages = {940-951}, pmid = {36007020}, issn = {1095-9203}, support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Archaeology ; Asia ; Europe ; Genetic Variation ; Greece ; History, Ancient ; History, Medieval ; *Human Migration/history ; Humans ; *Population/genetics ; }, abstract = {Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and included both people with some steppe ancestry and others, like the Griffin Warrior, without it. Similarly, people in the central area of the Urartian Kingdom around Lake Van lacked the steppe ancestry characteristic of the kingdom's northern provinces. Anatolia exhibited extraordinary continuity down to the Roman and Byzantine periods, with its people serving as the demographic core of much of the Roman Empire, including the city of Rome itself. During medieval times, migrations associated with Slavic and Turkic speakers profoundly affected the region.}, }
@article {pmid35931723, year = {2022}, author = {Silva, NM and Kreutzer, S and Souleles, A and Triantaphyllou, S and Kotsakis, K and Urem-Kotsou, D and Halstead, P and Efstratiou, N and Kotsos, S and Karamitrou-Mentessidi, G and Adaktylou, F and Chondroyianni-Metoki, A and Pappa, M and Ziota, C and Sampson, A and Papathanasiou, A and Vitelli, K and Cullen, T and Kyparissi-Apostolika, N and Lanz, AZ and Peters, J and Rio, J and Wegmann, D and Burger, J and Currat, M and Papageorgopoulou, C}, title = {Ancient mitochondrial diversity reveals population homogeneity in Neolithic Greece and identifies population dynamics along the Danubian expansion axis.}, journal = {Scientific reports}, volume = {12}, number = {1}, pages = {13474}, pmid = {35931723}, issn = {2045-2322}, support = {31003A_156853/SNSF_/Swiss National Science Foundation/Switzerland ; }, mesh = {Bayes Theorem ; DNA, Ancient ; *DNA, Mitochondrial/genetics ; Europe ; Genetics, Population ; Greece ; History, Ancient ; Humans ; *Mitochondria/genetics ; Population Dynamics ; }, abstract = {The aim of the study is to investigate mitochondrial diversity in Neolithic Greece and its relation to hunter-gatherers and farmers who populated the Danubian Neolithic expansion axis. We sequenced 42 mitochondrial palaeogenomes from Greece and analysed them together with European set of 328 mtDNA sequences dating from the Early to the Final Neolithic and 319 modern sequences. To test for population continuity through time in Greece, we use an original structured population continuity test that simulates DNA from different periods by explicitly considering the spatial and temporal dynamics of populations. We explore specific scenarios of the mode and tempo of the European Neolithic expansion along the Danubian axis applying spatially explicit simulations coupled with Approximate Bayesian Computation. We observe a striking genetic homogeneity for the maternal line throughout the Neolithic in Greece whereas population continuity is rejected between the Neolithic and present-day Greeks. Along the Danubian expansion axis, our best-fitting scenario supports a substantial decrease in mobility and an increasing local hunter-gatherer contribution to the gene-pool of farmers following the initial rapid Neolithic expansion. Οur original simulation approach models key demographic parameters rather than inferring them from fragmentary data leading to a better understanding of this important process in European prehistory.}, }
@article {pmid35858408, year = {2022}, author = {Barton, NH}, title = {The "New Synthesis".}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {30}, pages = {e2122147119}, pmid = {35858408}, issn = {1091-6490}, mesh = {*Biological Evolution ; *Genetics/history ; *Heredity ; History, 19th Century ; *Selection, Genetic ; }, abstract = {When Mendel's work was rediscovered in 1900, and extended to establish classical genetics, it was initially seen in opposition to Darwin's theory of evolution by natural selection on continuous variation, as represented by the biometric research program that was the foundation of quantitative genetics. As Fisher, Haldane, and Wright established a century ago, Mendelian inheritance is exactly what is needed for natural selection to work efficiently. Yet, the synthesis remains unfinished. We do not understand why sexual reproduction and a fair meiosis predominate in eukaryotes, or how far these are responsible for their diversity and complexity. Moreover, although quantitative geneticists have long known that adaptive variation is highly polygenic, and that this is essential for efficient selection, this is only now becoming appreciated by molecular biologists-and we still do not have a good framework for understanding polygenic variation or diffuse function.}, }
@article {pmid35852990, year = {2022}, author = {McLysaght, A}, title = {The deceptive simplicity of mendelian genetics.}, journal = {PLoS biology}, volume = {20}, number = {7}, pages = {e3001691}, pmid = {35852990}, issn = {1545-7885}, mesh = {*Cognition ; *Genetics ; History, 19th Century ; }, abstract = {Mendel, a genius experimentalist, meticulously uncovered the genetic basis of heredity in work that transformed the science of biology. But does the alluring simplicity of Mendel's laws sometimes obscure the true complexity of genetics?}, }
@article {pmid35841840, year = {2022}, author = {Pence, CH}, title = {Of stirps and chromosomes: Generality through detail.}, journal = {Studies in history and philosophy of science}, volume = {94}, number = {}, pages = {177-190}, doi = {10.1016/j.shpsa.2022.06.015}, pmid = {35841840}, issn = {0039-3681}, mesh = {Biological Evolution ; Biometry ; Chromosomes/genetics ; *Heredity ; *Historiography ; }, abstract = {One claim found in the received historiography of the biometrical school (comprised primarily of Francis Galton, Karl Pearson, and W. F. R. Weldon) is that one of the biometricians' great flaws was their inability to look past their population-focused, statistical, gradualist understanding of evolutionary change - which led, in part, to their ignoring developments in cellular biology around 1900. I will argue, on the contrary, that the work of the biometricians was, from its earliest days, fundamentally concerned with connections between statistical patterns of inheritance and the underlying cellular features that gave rise to them. Such work remained current with contemporary knowledge of chromosomes, cytology, and development; in this article, I explore the first case. The biometricians were thus well positioned to understand the relationship between the patterns of Mendelian inheritance and the statistical distributions with which they primarily occupied themselves. Ignorance of this connection, then, is not the reason why they rejected Mendelism. Further, both Galton and Weldon - though each in their own unique way - decided to turn to biological detail as a way to better justify the generality of their statistical approaches to heredity. Perhaps paradoxically, then, for these biometricians, detail offered an approach to theoretical generality.}, }
@article {pmid35804181, year = {2022}, author = {Cilia, G and Flaminio, S and Quaranta, M}, title = {A novel and non-invasive method for DNA extraction from dry bee specimens.}, journal = {Scientific reports}, volume = {12}, number = {1}, pages = {11679}, pmid = {35804181}, issn = {2045-2322}, mesh = {Animals ; Bees/genetics ; *DNA, Mitochondrial/genetics ; *Museums ; Phylogeny ; Preservation, Biological ; Sequence Analysis, DNA/methods ; }, abstract = {In recent years molecular techniques have been used on museum material as integrative support for classic taxonomy. This cumulative systematics approach is especially for rare or extinct specimens, and genetic analysis may be useful to discern information that is not possible to glean from live materials or morphology. To date, the extraction of DNA required at least a partial destruction of the specimens, which is not possible for all individuals, especially the types. In this study, we described a novel method to extract mitochondrial DNA (mtDNA) from pinned museum bee individuals to avoid any external morphological damage. This method was able to amplify the mtDNA Cytochrome C oxidase subunit I (COI) gene in bee samples collected up to 27 years ago. We tested the efficacy of this method on 72 preserved be specimens belonging to nine species among four families, it could be used on many museums' rare and/or extinct bee species because it does not provide external morphological damages. The method could be helpful for providing ecological, taxonomic, and phylogenetic information about specimens preserved in museum collections.}, }
@article {pmid35588742, year = {2022}, author = {Ariano, B and Mattiangeli, V and Breslin, EM and Parkinson, EW and McLaughlin, TR and Thompson, JE and Power, RK and Stock, JT and Mercieca-Spiteri, B and Stoddart, S and Malone, C and Gopalakrishnan, S and Cassidy, LM and Bradley, DG}, title = {Ancient Maltese genomes and the genetic geography of Neolithic Europe.}, journal = {Current biology : CB}, volume = {32}, number = {12}, pages = {2668-2680.e6}, pmid = {35588742}, issn = {1879-0445}, support = {205072/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Agriculture ; *Archaeology ; DNA, Ancient ; DNA, Mitochondrial/genetics ; Europe ; *Genome, Human ; Geography ; History, Ancient ; Human Migration ; Humans ; }, abstract = {Archaeological consideration of maritime connectivity has ranged from a biogeographical perspective that considers the sea as a barrier to a view of seaways as ancient highways that facilitate exchange. Our results illustrate the former. We report three Late Neolithic human genomes from the Mediterranean island of Malta that are markedly enriched for runs of homozygosity, indicating inbreeding in their ancestry and an effective population size of only hundreds, a striking illustration of maritime isolation in this agricultural society. In the Late Neolithic, communities across mainland Europe experienced a resurgence of hunter-gatherer ancestry, pointing toward the persistence of different ancestral strands that subsequently admixed. This is absent in the Maltese genomes, giving a further indication of their genomic insularity. Imputation of genome-wide genotypes in our new and 258 published ancient individuals allowed shared identity-by-descent segment analysis, giving a fine-grained genetic geography of Neolithic Europe. This highlights the differentiating effects of seafaring Mediterranean expansion and also island colonization, including that of Ireland, Britain, and Orkney. These maritime effects contrast profoundly with a lack of migratory barriers in the establishment of Central European farming populations from Anatolia and the Balkans.}, }
@article {pmid35508651, year = {2022}, author = {Gelabert, P and Schmidt, RW and Fernandes, DM and Karsten, JK and Harper, TK and Madden, GD and Ledogar, SH and Sokhatsky, M and Oota, H and Kennett, DJ and Pinhasi, R}, title = {Genomes from Verteba cave suggest diversity within the Trypillians in Ukraine.}, journal = {Scientific reports}, volume = {12}, number = {1}, pages = {7242}, pmid = {35508651}, issn = {2045-2322}, support = {PACE #70245/MCCC_/Marie Curie/United Kingdom ; }, mesh = {Agriculture ; *DNA, Ancient ; Europe ; Genome, Human ; History, Ancient ; *Human Migration ; Humans ; Ukraine ; }, abstract = {The transition to agriculture occurred relatively late in Eastern Europe, leading researchers to debate whether it was a gradual, interactive process or a colonisation event. In the forest and forest-steppe regions of Ukraine, farming appeared during the fifth millennium BCE, associated with the Cucuteni-Trypillia cultural complex (CTCC, ~ 5000-3000 BCE). Across Europe, the Neolithisation process was highly variable across space and over time. Here, we investigate the population dynamics of early agriculturalists from the eastern forest-steppe region based on the analyses of 20 ancient genomes from the site of Verteba Cave (3935-825 cal BCE). Results reveal that the CTCC individuals' ancestry is related to both western hunter-gatherers and Near Eastern farmers, has no local ancestry associated with Ukrainian Neolithic hunter-gatherers and has steppe ancestry. An Early Bronze Age individual has an ancestry profile related to the Yamnaya expansions but with 20% of ancestry related to the other Trypillian individuals, which suggests admixture between the Trypillians and the incoming populations carrying steppe-related ancestry. A Late Bronze Age individual dated to 980-825 cal BCE has a genetic profile indicating affinity to Beaker-related populations, detected close to 1000 years after the end of the Bell Beaker phenomenon during the third millennium BCE.}, }
@article {pmid35378166, year = {2022}, author = {Roll-Hansen, N}, title = {A special role for the genotype? Some comments on Keith Baverstock: "The gene: An appraisal".}, journal = {Progress in biophysics and molecular biology}, volume = {172}, number = {}, pages = {82-89}, doi = {10.1016/j.pbiomolbio.2022.03.005}, pmid = {35378166}, issn = {1873-1732}, mesh = {Genotype ; History, 20th Century ; Humans ; Phenotype ; *Physicians ; }, abstract = {There is at present uneasiness about the conceptual basis of genetics. The gene concept has become blurred and there are problems with the distinction between genotype and phenotype. In the present paper I go back to their role in the creation of modern genetics in the early twentieth century. The terms were introduced by the Danish botanist and geneticist Wilhelm Johannsen in his big textbook of 1909. Historical accounts usually concentrate on this book and his 1911 paper "The Genotype Conception of Heredity." His bean selection experiment of 1900-1903 is generally assumed to be the source of his genotype theory. The present paper examines the scientific context and meaning of this experiment, how it was received, and how the genotype theory became securely established by the early 1910s. I argue in conclusion that the genotype/phenotype distinction, which provides the empirical basis for Johannsen's gene, was scientifically well founded when introduced and still is. Keith Baverstock's criticism does not consider the force of the bean selection experiment at the time and as a paradigm for following investigations of heredity.}, }
@article {pmid35025067, year = {2022}, author = {Carlson, SJ and Bauer, CE and Govindjee, G}, title = {Remembering Robert (Bob) Togasaki (1932-2019): A leader in Chlamydomonas genetics and in plant biology, as well as a teacher par excellence.}, journal = {Photosynthesis research}, volume = {152}, number = {1}, pages = {73-86}, pmid = {35025067}, issn = {1573-5079}, mesh = {Biology ; Carbon ; *Chlamydomonas/genetics ; History, 20th Century ; Humans ; Male ; Photosynthesis/genetics ; }, abstract = {Robert (Bob) K. Togasaki was devoted to science and the people in the scientific community. He elucidated some of the most fundamental aspects of photosynthesis and carbon metabolism through classic genetic approaches and later using the tools of modern biotechnology. Along the way, he freely shared his ideas and enthusiasm with established scientists, junior researchers, graduate students, and even elementary students. His career trajectory led him to work with some of the leaders in the field, including the late Martin Gibbs and R. Paul Levine. His dedicated research has led to a more complete understanding of some of the core biochemical functions relating to photosynthesis of the green alga Chlamydomonas; this has included carbon-concentrating mechanisms, hydrogenases, and superoxide dismutase to name just a few. The focus of this Tribute is personal reminiscences by his postdoctoral advisor R. Paul Levine; his collaborators Teruo Ogawa, Jean-David Rochaix, Hidehiro Sakurai, Michael Seibert; and by his students William Belknap, Susan Carlson, Charlene Forest, Arthur Grossman, Gregory Katzman, Masahiko Kitayama, and Jon Suzuki. All remember Bob Togasaki for his intellect, dedication to science education, and his unwavering goodwill and optimism towards his fellow human beings.}, }
@article {pmid35023262, year = {2022}, author = {Kendler, KS and Klee, A}, title = {The place of Franz Kallmann's 1938 "the genetics of schizophrenia" in the history of psychiatric genetics.}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {189}, number = {1-2}, pages = {26-36}, doi = {10.1002/ajmg.b.32886}, pmid = {35023262}, issn = {1552-485X}, mesh = {Brain ; Eugenics ; Family ; Germany ; Humans ; *Schizophrenia/diagnosis/genetics ; United States ; }, abstract = {This essay provides the historical context and key findings of one of the largest fieldwork-based family studies ever done in the history of psychiatric genetics conducted in Berlin by Franz Kallmann from 1929 to 1933. It included over 1,000 schizophrenic probands and 12,500 of their relatives including siblings, offspring, nieces/nephews and grandchildren. The work was analyzed in close collaboration with Rüdin, Schulz, and Luxenburger in Munich. Born of Jewish parents, Kallmann had to leave Germany in 1936, completing and publishing the monograph in the United States in 1938. This study included a number of methodologic advances over the classic 1916 sibling study of Rüdin: (a) joint analysis of multiple classes of relatives; (b) subdivision of schizophrenia into four subtypes; (c) a focus on schizoid personality [schizoidia]; (d) examination of the familial aggregation of schizophrenia; and (e) a more complex genetic model-with schizophrenia arising from a single-recessive gene with 70% penetrance and background polygenic influences, and schizoidia from heterozygotes. Kallmann found important differences in risk of relatives in nuclear versus peripheral subtypes and concluded that schizoidia was a part of schizophrenia disease complex while other psychopathies, feeblemindedness, and organic brain disorders were not. Kallmann was strongly invested in the eugenic implications of his results.}, }
@article {pmid35022602, year = {2022}, author = {}, title = {A very Mendelian year.}, journal = {Nature genetics}, volume = {54}, number = {1}, pages = {1}, doi = {10.1038/s41588-021-01002-x}, pmid = {35022602}, issn = {1546-1718}, mesh = {COVID-19/genetics ; Deep Learning ; Genetic Research ; Genetics/*history/trends ; History, 21st Century ; Humans ; Plants/genetics ; }, }
@article {pmid34997802, year = {2022}, author = {Kendler, KS}, title = {The beginnings of biometrical psychiatric genetics: Studies of the insane diathesis 1905-1909.}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {189}, number = {1-2}, pages = {6-15}, doi = {10.1002/ajmg.b.32885}, pmid = {34997802}, issn = {1552-485X}, mesh = {Disease Susceptibility ; History, 20th Century ; Humans ; Male ; Phenotype ; *Research Personnel ; }, abstract = {The year 1900 saw not only the rediscovery of Mendel's hybridization studies but also the publication by Karl Pearson of his newly developed tetrachoric correlation which he used to study the parent-offspring resemblance for the "insane diathesis" in 1905. This was followed by more detailed reports by two of his students/associates: Heron in 1907 and Goring in 1909. Both calculated the tetrachoric correlation for insanity in parent-offspring and Heron for sib-sib pairs. Estimates ranged from approximately +0.30 to +0.60. These papers were statistically sophisticated but demonstrated minimal interest in the phenotype being studied. They are of historical interest because they laid the groundwork for biometrical psychiatric genetics which emerged as a major research paradigm in latter third of the 20th century. In a biting critique of Heron's paper by a young Ernst Rüdin, we see the beginnings of a long-running argument in psychiatric genetics about the relative value of detailed phenotyping versus novel statistical methods and of Mendelian versus Biometrical methods. While much interest has focused on the eugenic orientation of German psychiatric genetics in the early 20th century, these early British biometrical geneticists, like the majority of geneticists of that day, were also ardent advocates of the eugenic application of their research results.}, }
@article {pmid34971081, year = {2022}, author = {Kendler, KS}, title = {The beginnings of the debate between the Mendelians and the Biometricians in psychiatric genetics: David Heron, Karl Pearson, Abraham Rosanoff, and Charles Davenport 1913-1914.}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {189}, number = {1-2}, pages = {16-25}, doi = {10.1002/ajmg.b.32884}, pmid = {34971081}, issn = {1552-485X}, mesh = {*Bipolar Disorder ; *Genetic Diseases, X-Linked ; History, 20th Century ; Humans ; *Intellectual Disability ; United States ; }, abstract = {The world learned of the heated dispute about the methodology of the early works by Davenport and Rosanoff claiming Mendelian transmission patterns for mental handicap and psychiatric illness in a bold headline in the New York Times on Sunday, November 9, 1913: ENGLISH EXPERT ATTACKS AMERICAN EUGENIC WORK. I here focus on the debate surrounding Rosanoff's 1911 study where he presented evidence that the neuropathic constitution, including, among its manifestations, dementia praecox, and manic-depressive illness, was an autosomal recessive trait. The "English expert," David Heron, a student of Pearson's, launched the debate in his 1913 paper which argued that Rosanoff's field work methods were biased, his clinical assessments sloppy, his phenotype far too broad, and his statistical approach flawed. Both Davenport, Rosanoff's mentor, and Rosanoff vigorously defended their methods. Behind this sometimes personal debate was the long simmering controversy about the relative validity of Biometrical genetic (represented by Heron and Pearson) and Mendelian genetic (represented by Rosanoff and Davenport) models for genetic transmission in plants, animals and, especially, humans. A review suggests that most of Heron's criticisms were valid. This episode presages later controversies within psychiatric genetics, for example between twin and linkage researchers in the 1980s and 1990s.}, }
@article {pmid34618559, year = {2021}, author = {Kocher, A and Papac, L and Barquera, R and Key, FM and Spyrou, MA and Hübler, R and Rohrlach, AB and Aron, F and Stahl, R and Wissgott, A and van Bömmel, F and Pfefferkorn, M and Mittnik, A and Villalba-Mouco, V and Neumann, GU and Rivollat, M and van de Loosdrecht, MS and Majander, K and Tukhbatova, RI and Musralina, L and Ghalichi, A and Penske, S and Sabin, S and Michel, M and Gretzinger, J and Nelson, EA and Ferraz, T and Nägele, K and Parker, C and Keller, M and Guevara, EK and Feldman, M and Eisenmann, S and Skourtanioti, E and Giffin, K and Gnecchi-Ruscone, GA and Friederich, S and Schimmenti, V and Khartanovich, V and Karapetian, MK and Chaplygin, MS and Kufterin, VV and Khokhlov, AA and Chizhevsky, AA and Stashenkov, DA and Kochkina, AF and Tejedor-Rodríguez, C and de Lagrán, ÍG and Arcusa-Magallón, H and Garrido-Pena, R and Royo-Guillén, JI and Nováček, J and Rottier, S and Kacki, S and Saintot, S and Kaverzneva, E and Belinskiy, AB and Velemínský, P and Limburský, P and Kostka, M and Loe, L and Popescu, E and Clarke, R and Lyons, A and Mortimer, R and Sajantila, A and de Armas, YC and Hernandez Godoy, ST and Hernández-Zaragoza, DI and Pearson, J and Binder, D and Lefranc, P and Kantorovich, AR and Maslov, VE and Lai, L and Zoledziewska, M and Beckett, JF and Langová, M and Danielisová, A and Ingman, T and Atiénzar, GG and de Miguel Ibáñez, MP and Romero, A and Sperduti, A and Beckett, S and Salter, SJ and Zilivinskaya, ED and Vasil'ev, DV and von Heyking, K and Burger, RL and Salazar, LC and Amkreutz, L and Navruzbekov, M and Rosenstock, E and Alonso-Fernández, C and Slavchev, V and Kalmykov, AA and Atabiev, BC and Batieva, E and Calmet, MA and Llamas, B and Schultz, M and Krauß, R and Jiménez-Echevarría, J and Francken, M and Shnaider, S and de Knijff, P and Altena, E and Van de Vijver, K and Fehren-Schmitz, L and Tung, TA and Lösch, S and Dobrovolskaya, M and Makarov, N and Read, C and Van Twest, M and Sagona, C and Ramsl, PC and Akar, M and Yener, KA and Ballestero, EC and Cucca, F and Mazzarello, V and Utrilla, P and Rademaker, K and Fernández-Domínguez, E and Baird, D and Semal, P and Márquez-Morfín, L and Roksandic, M and Steiner, H and Salazar-García, DC and Shishlina, N and Erdal, YS and Hallgren, F and Boyadzhiev, Y and Boyadzhiev, K and Küßner, M and Sayer, D and Onkamo, P and Skeates, R and Rojo-Guerra, M and Buzhilova, A and Khussainova, E and Djansugurova, LB and Beisenov, AZ and Samashev, Z and Massy, K and Mannino, M and Moiseyev, V and Mannermaa, K and Balanovsky, O and Deguilloux, MF and Reinhold, S and Hansen, S and Kitov, EP and Dobeš, M and Ernée, M and Meller, H and Alt, KW and Prüfer, K and Warinner, C and Schiffels, S and Stockhammer, PW and Bos, K and Posth, C and Herbig, A and Haak, W and Krause, J and Kühnert, D}, title = {Ten millennia of hepatitis B virus evolution.}, journal = {Science (New York, N.Y.)}, volume = {374}, number = {6564}, pages = {182-188}, doi = {10.1126/science.abi5658}, pmid = {34618559}, issn = {1095-9203}, mesh = {Americas ; Asia ; Asian People ; Communicable Diseases, Emerging/*history/virology ; Europe ; *Evolution, Molecular ; Genetic Variation ; Genomics ; Hepatitis B/*history/virology ; Hepatitis B virus/*classification/*genetics ; History, Ancient ; Humans ; Paleontology ; Phylogeny ; White People ; American Indian or Alaska Native ; }, abstract = {Hepatitis B virus (HBV) has been infecting humans for millennia and remains a global health problem, but its past diversity and dispersal routes are largely unknown. We generated HBV genomic data from 137 Eurasians and Native Americans dated between ~10,500 and ~400 years ago. We date the most recent common ancestor of all HBV lineages to between ~20,000 and 12,000 years ago, with the virus present in European and South American hunter-gatherers during the early Holocene. After the European Neolithic transition, Mesolithic HBV strains were replaced by a lineage likely disseminated by early farmers that prevailed throughout western Eurasia for ~4000 years, declining around the end of the 2nd millennium BCE. The only remnant of this prehistoric HBV diversity is the rare genotype G, which appears to have reemerged during the HIV pandemic.}, }
@article {pmid34532947, year = {2021}, author = {Puffenberger, EG}, title = {Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3322-3333}, doi = {10.1002/ajmg.a.62489}, pmid = {34532947}, issn = {1552-4833}, mesh = {Amish/genetics ; Founder Effect ; Genetic Diseases, Inborn/genetics/*history ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Pennsylvania/epidemiology ; Translational Science, Biomedical/trends ; }, abstract = {Founder populations have long contributed to our knowledge of rare disease genes and phenotypes. From the pioneering work of Dr. Victor McKusick to today, research in these groups has shed light on rare recessive phenotypes, expanded the clinical spectrum of disease, and facilitated disease gene identification. Current clinical and research studies in these special groups augment the wealth of knowledge already gained, provide new insights into emerging problems such as variant interpretation and reduced penetrance, and contribute to the development of novel therapies for rare genetic diseases. Clinical developments over the past 30 years have altered the fundamental relationship with the Lancaster Plain communities: research has become more collaborative, and the knowledge imparted by these studies is now being harnessed to provide cutting-edge translational medicine to the very community of vulnerable individuals who need it most.}, }
@article {pmid34463023, year = {2021}, author = {Francomano, CA}, title = {Victor Almon McKusick: In the footsteps of Mendel and Osler.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3193-3201}, doi = {10.1002/ajmg.a.62451}, pmid = {34463023}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Awards and Prizes ; Chromosome Mapping ; Databases, Genetic/*history ; Genetics, Medical/*history ; Genome, Human/*genetics ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; United States ; }, abstract = {Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.}, }
@article {pmid34455258, year = {2021}, author = {Shan, Y}, title = {Beyond Mendelism and Biometry.}, journal = {Studies in history and philosophy of science}, volume = {89}, number = {}, pages = {155-163}, doi = {10.1016/j.shpsa.2021.08.014}, pmid = {34455258}, issn = {0039-3681}, mesh = {*Biometry/history ; Fruit ; *Genetics/history ; History, 19th Century ; History, 20th Century ; Reading Frames ; }, abstract = {Historiographical analyses of the development of genetics in the first decade of the 20th century have been to a great extent framed in the context of the Mendelian-Biometrician controversy. Much has been discussed on the nature, origin, development, and legacy of the controversy. However, such a framework is becoming less useful and fruitful. This paper challenges the traditional historiography framed by the Mendelian-Biometrician distinction. It argues that the Mendelian-Biometrician distinction fails to reflect the theoretical and methodological diversity in the controversy. It also argues that the Mendelian-Biometrician distinction is not helpful to make a full understanding of the development of genetics in the first decade of the twentieth century.}, }
@article {pmid34415100, year = {2021}, author = {Kendler, KS}, title = {Ernst Rüdin's, 1911 vision of a Mendelian psychiatric genetics research program: His paper "Methods and goals of family research in psychiatry".}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {186}, number = {5}, pages = {279-288}, doi = {10.1002/ajmg.b.32870}, pmid = {34415100}, issn = {1552-485X}, mesh = {Eugenics ; Family ; Germany ; *Goals ; History, 20th Century ; Humans ; Male ; National Socialism ; *Psychiatry ; }, abstract = {While working under Kraepelin in Munich, Ernst Rüdin, a Swiss-born Psychiatrist, at the age of 26, outlined in a 1911 98-page article, a detailed plan for a future Mendelian-informed family research program for psychiatry. Rüdin would go on to head the Department of Genealogical and Demographic Studies at Kraepelin's Research Institute which became one of the world's leading programs in psychiatric genetics. I here summarize this article, providing a complete translation online. Rüdin's review outlined a paradigm shift in psychiatric genetics research moving from calculations of aggregate hereditary burden, as they applied to the proband, to examining patterns of transmission within family pedigrees which involved careful individual assessments of relatives. He references widely clinical and statistical genetic studies, many focusing on the newly discovered Mendelian laws. However, Rüdin was no genetic reductionist but recognized the contribution of environmental risk factors to psychiatric illness arguing that they should be studied as part of a comprehensive research program. As a committed eugenicist, Rüdin also explored the implications of such a program for "racial hygiene." Rüdin's contributions should be viewed in the context of his extensive collaboration from 1933 to 1945 with the National Socialists and his support for their eugenics program, including involuntary sterilizations.}, }
@article {pmid34328209, year = {2021}, author = {Meza-Peñaloza, A and Zertuche, F and Morehart, C}, title = {Population level comparisons in central Mexico using cranial nonmetric traits.}, journal = {American journal of physical anthropology}, volume = {176}, number = {2}, pages = {237-248}, doi = {10.1002/ajpa.24377}, pmid = {34328209}, issn = {1096-8644}, mesh = {Anthropology, Physical ; Biological Evolution ; Burial ; History, Ancient ; Human Migration ; Humans ; *Indians, North American/classification/statistics &amp; numerical data ; Mexico ; Skull/*anatomy &amp; histology ; }, abstract = {OBJECTIVES: We study the genetic diversity between Classic Teotihuacan and its neighboring towns trying to understand how far or close they are at the genetic level.<br><br>MATERIALS AND METHODS: We use cranial nonmetric traits to study a sample of 280 adult skulls from archaeological sites running from the late Preclassic to the early Postclassic. Samples of Classic Teotihuacan were studied for La Ventilla and San Sebasti&#xe1;n Xolalpan neighbors. For the Epiclassic period, samples from Xaltocan, Toluca valley, Mogotes and Xico were used. For the Preclassic and Postclassic samples from Xico were also used. We used a parametric bootstrap for the mean measure of divergence for the statistical analysis.<br><br>RESULTS: Samples from Xico have small biodistance from Preclassic to Postclassic. Samples from Los Mogotes differ depending on the functional context of deposition, with individuals from household burials (funerary) differing from non-funerary, ceremonial interments and exhibiting affinities to Epiclassic samples from Toluca valley. Epiclassic populations from Xaltocan vary significantly from any samples analyzed. Samples from Classic period Teotihuacan vary considerably among them but form a separate genetic group from all the other populations under study.<br><br>CONCLUSIONS: The great biodistance separation among Classic Teotihuacan and its neighbor villages of central Mexico let us conclude that, contrary from the classical idea that those villages were confirmed by the inhabitants of Teotihuacan's collapse: They indeed remain as separate populations by themselves.}, }
@article {pmid34309858, year = {2021}, author = {Rakotoambinina, B and Hiffler, L and Gomes, F}, title = {Pediatric thiamine deficiency disorders in high-income countries between 2000 and 2020: a clinical reappraisal.}, journal = {Annals of the New York Academy of Sciences}, volume = {1498}, number = {1}, pages = {57-76}, pmid = {34309858}, issn = {1749-6632}, support = {OPP1176128//Bill and Melinda Gates Foundation/ ; }, mesh = {Age Factors ; Beriberi/epidemiology/etiology/history ; Child ; Developed Countries ; Disease Management ; Disease Susceptibility ; History, 21st Century ; Humans ; Infant ; Infant, Newborn ; Public Health Surveillance ; Socioeconomic Factors ; Thiamine/metabolism ; Thiamine Deficiency/diagnosis/*epidemiology/etiology/history ; }, abstract = {Often thought to be a nutritional issue limited to low- and middle-income countries (LMICs), pediatric thiamine deficiency (PTD) is perceived as being eradicated or anecdotal in high-income countries (HICs). In HICs, classic beriberi cases in breastfed infants by thiamine-deficient mothers living in disadvantaged socioeconomic conditions are thought to be rare. This study aims to assess PTD in HICs in the 21st century. Literature searches were conducted to identify case reports of PTD observed in HICs and published between 2000 and 2020. The analyzed variables were age, country, underlying conditions, clinical manifestations of PTD, and response to thiamine supplementation. One hundred and ten articles were identified, totaling 389 PTD cases that were classified into four age groups: neonates, infants, children, and adolescents. Eleven categories of PTD-predisposing factors were identified, including genetic causes, lifestyle (diabetes, obesity, and excessive consumption of sweetened beverages), eating disorders, cancer, gastrointestinal disorders/surgeries, critical illness, and artificial nutrition. TD-associated hyperlactatemia and Wernicke encephalopathy were the most frequent clinical manifestations. The circumstances surrounding PTD in HICs differ from classic PTD observed in LMICs and this study delineates its mutiple predisposing factors. Further studies are required to estimate its magnitude. Awareness is of utmost importance in clinical practice.}, }
@article {pmid34308549, year = {2021}, author = {Juras, A and Ehler, E and Chyleński, M and Pospieszny, &#x141; and Spinek, AE and Malmström, H and Krzewińska, M and Szostek, K and Pasterkiewicz, W and Florek, M and Wilk, S and Mnich, B and Kruk, J and Szmyt, M and Kozieł, S and Götherström, A and Jakobsson, M and Dabert, M}, title = {Maternal genetic origin of the late and final Neolithic human populations from present-day Poland.}, journal = {American journal of physical anthropology}, volume = {176}, number = {2}, pages = {223-236}, doi = {10.1002/ajpa.24372}, pmid = {34308549}, issn = {1096-8644}, mesh = {Anthropology, Physical ; *DNA, Ancient ; DNA, Mitochondrial/*genetics ; Haplotypes/genetics ; History, Ancient ; Humans ; Poland ; White People/*genetics ; }, abstract = {OBJECTIVE: We aim to identify maternal genetic affinities between the Middle to Final Neolithic (3850-2300 BC) populations from present-day Poland and possible genetic influences from the Pontic steppe.<br><br>MATERIALS AND METHODS: We conducted ancient DNA studies from populations associated with Z&#x142;ota, Globular Amphora, Funnel Beaker, and Corded Ware cultures (CWC). We sequenced genomic libraries on Illumina platform to generate 86 complete ancient mitochondrial genomes. Some of the samples were enriched for mitochondrial DNA using hybridization capture.<br><br>RESULTS: The maternal genetic composition found in Z&#x142;ota-associated individuals resembled that found in people associated with the Globular Amphora culture which indicates that both groups likely originated from the same maternal genetic background. Further, these two groups were closely related to the Funnel Beaker culture-associated population. None of these groups shared a close affinity to CWC-associated people. Haplogroup U4 was present only in the CWC group and absent in Z&#x142;ota group, Globular Amphora, and Funnel Beaker cultures.<br><br>DISCUSSION: The prevalence of mitochondrial haplogroups of Neolithic farmer origin identified in Early, Middle and Late Neolithic populations suggests a genetic continuity of these maternal lineages in the studied area. Although overlapping in time - and to some extent - in cultural expressions, none of the studied groups (Z&#x142;ota, Globular Amphora, Funnel Beaker), shared a close genetic affinity to CWC-associated people, indicating a larger extent of cultural influence from the Pontic steppe than genetic exchange. The higher frequency of haplogroup U5b found in populations associated with Funnel Beaker, Globular Amphora, and Z&#x142;ota cultures suggest a gradual maternal genetic influx from Mesolithic hunter-gatherers. Moreover, presence of haplogroup U4 in Corded Ware groups is most likely associated with the migrations from the Pontic steppe at the end of the Neolithic and supports the observed genetic distances.}, }
@article {pmid34169650, year = {2021}, author = {Hamosh, A and Amberger, JS and Bocchini, C and Scott, AF and Rasmussen, SA}, title = {Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3259-3265}, pmid = {34169650}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; NIH/NHGRI U41HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Chromosome Mapping ; Databases, Genetic/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer-readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long-term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.}, }
@article {pmid34159717, year = {2021}, author = {Rasmussen, SA and Pomputius, A and Amberger, JS and Hamosh, A}, title = {Viewing Victor McKusick's legacy through the lens of his bibliography.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3212-3223}, pmid = {34159717}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Databases, Genetic/*history ; Genetics, Medical/*history ; Genome, Human/*genetics ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; United States ; }, abstract = {Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.}, }
@article {pmid34159713, year = {2021}, author = {Antonarakis, SE}, title = {History of the methodology of disease gene identification.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3266-3275}, pmid = {34159713}, issn = {1552-4833}, mesh = {Databases, Genetic/*history ; Genetic Diseases, Inborn/epidemiology/*genetics/history ; Genetic Linkage/genetics ; *Genetic Predisposition to Disease ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; }, abstract = {The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to thousands of monogenic phenotypes. This endeavor can be divided in three phases in which different laboratory strategies were employed for the discovery of disease-related genes: (i) the biochemical phase, (ii) the genetic linkage followed by positional cloning phase, and (iii) the sequence identification phase. However, much more work is needed to identify all the high impact genomic variation that substantially contributes to the phenotypic variation.}, }
@article {pmid34135357, year = {2021}, author = {Lentz, DL and Hamilton, TL and Dunning, NP and Tepe, EJ and Scarborough, VL and Meyers, SA and Grazioso, L and Weiss, AA}, title = {Environmental DNA reveals arboreal cityscapes at the Ancient Maya Center of Tikal.}, journal = {Scientific reports}, volume = {11}, number = {1}, pages = {12725}, pmid = {34135357}, issn = {2045-2322}, mesh = {Archaeology ; Cities/history ; DNA, Ancient/*analysis ; DNA, Environmental/*analysis ; DNA, Plant/*analysis ; Forests ; Geologic Sediments/chemistry ; Guatemala ; History, Ancient ; *Plants ; *Trees ; Water Supply/*history ; }, abstract = {Tikal, a major city of the ancient Maya world, has been the focus of archaeological research for over a century, yet the interactions between the Maya and the surrounding Neotropical forests remain largely enigmatic. This study aimed to help fill that void by using a powerful new technology, environmental DNA analysis, that enabled us to characterize the site core vegetation growing in association with the artificial reservoirs that provided the city water supply. Because the area has no permanent water sources, such as lakes or rivers, these reservoirs were key to the survival of the city, especially during the population expansion of the Classic period (250-850 CE). In the absence of specific evidence, the nature of the vegetation surrounding the reservoirs has been the subject of scientific hypotheses and artistic renderings for decades. To address these hypotheses we captured homologous sequences of vascular plant DNA extracted from reservoir sediments by using a targeted enrichment approach involving 120-bp genetic probes. Our samples encompassed the time before, during and after the occupation of Tikal (1000 BCE-900 CE). Results indicate that the banks of the ancient reservoirs were primarily fringed with native tropical forest vegetation rather than domesticated species during the Maya occupation.}, }
@article {pmid34097448, year = {2021}, author = {Rohatgi, A and Westerterp, M and von Eckardstein, A and Remaley, A and Rye, KA}, title = {HDL in the 21st Century: A Multifunctional Roadmap for Future HDL Research.}, journal = {Circulation}, volume = {143}, number = {23}, pages = {2293-2309}, pmid = {34097448}, issn = {1524-4539}, support = {K24 HL146838/HL/NHLBI NIH HHS/United States ; R01 HL136724/HL/NHLBI NIH HHS/United States ; }, mesh = {Atherosclerosis/pathology ; Cholesterol/metabolism ; History, 21st Century ; Humans ; Inflammasomes/metabolism ; Lipoproteins, HDL/blood/*metabolism ; Oxidative Stress ; Proteomics ; Research/history ; Risk Factors ; }, abstract = {Low high-density lipoprotein cholesterol (HDL-C) characterizes an atherogenic dyslipidemia that reflects adverse lifestyle choices, impaired metabolism, and increased cardiovascular risk. Low HDL-C is also associated with increased risk of inflammatory disorders, malignancy, diabetes, and other diseases. This epidemiologic evidence has not translated to raising HDL-C as a viable therapeutic target, partly because HDL-C does not reflect high-density lipoprotein (HDL) function. Mendelian randomization analyses that have found no evidence of a causal relationship between HDL-C levels and cardiovascular risk have decreased interest in increasing HDL-C levels as a therapeutic target. HDLs comprise distinct subpopulations of particles of varying size, charge, and composition that have several dynamic and context-dependent functions, especially with respect to acute and chronic inflammatory states. These functions include reverse cholesterol transport, inhibition of inflammation and oxidation, and antidiabetic properties. HDLs can be anti-inflammatory (which may protect against atherosclerosis and diabetes) and proinflammatory (which may help clear pathogens in sepsis). The molecular regulation of HDLs is complex, as evidenced by their association with multiple proteins, as well as bioactive lipids and noncoding RNAs. Clinical investigations of HDL biomarkers (HDL-C, HDL particle number, and apolipoprotein A through I) have revealed nonlinear relationships with cardiovascular outcomes, differential relationships by sex and ethnicity, and differential patterns with coronary versus noncoronary events. Novel HDL markers may also have relevance for heart failure, cancer, and diabetes. HDL function markers (namely, cholesterol efflux capacity) are associated with coronary disease, but they remain research tools. Therapeutics that manipulate aspects of HDL metabolism remain the holy grail. None has proven to be successful, but most have targeted HDL-C, not metrics of HDL function. Future therapeutic strategies should focus on optimizing HDL function in the right patients at the optimal time in their disease course. We provide a framework to help the research and clinical communities, as well as funding agencies and stakeholders, obtain insights into current thinking on these topics, and what we predict will be an exciting future for research and development on HDLs.}, }
@article {pmid34011428, year = {2021}, author = {McGovern, MF}, title = {Genes go digital: Mendelian Inheritance in Man and the genealogy of electronic publishing in biomedicine.}, journal = {British journal for the history of science}, volume = {54}, number = {2}, pages = {213-231}, doi = {10.1017/S0007087421000224}, pmid = {34011428}, issn = {1474-001X}, mesh = {Databases, Genetic/*history ; Genetics, Medical/*history ; *Heredity ; History, 20th Century ; History, 21st Century ; Humans ; Publishing/*history ; }, abstract = {Mendelian Inheritance in Man (MIM), a computerized catalogue of human genetic disorders authored and maintained by cardiologist and medical genetics pioneer Victor A. McKusick, played a major part in demarcating between a novel biomedical science and the eugenic projects of racial betterment which existed prior to its emergence. Nonetheless, it built upon prior efforts to systematize genetic knowledge tied to individuals and institutions invested in eugenics. By unpacking the process of digitizing a homespun cataloguing project and charting its development into an online database, this article aims to illuminate how the institution-building efforts of one individual created an 'information order' for accessing genetic information that tacitly shaped the norms and priorities of the field toward the pursuit of specific genes associated with discernible genetic disorders. This was not by design, but rather arose through negotiation with the catalogue's users; it accommodated further changes as biomedical research displaced the Mendelian paradigm. While great effort was expended toward making sequence data available to investigators during the Human Genome Project, MIM was largely taken for granted as a 'legacy system', McKusick's own labour of love. Drawing on recent histories of biomedical data, the article suggests that the bibliographical work of curation and translation is a central feature of value production in the life sciences meriting attention in its own right.}, }
@article {pmid33982855, year = {2021}, author = {Battaglia, A and Carey, JC}, title = {Reflections on observing faces in art.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {187}, number = {2}, pages = {144-147}, doi = {10.1002/ajmg.c.31912}, pmid = {33982855}, issn = {1552-4876}, mesh = {Europe ; Humans ; Museums ; *Paintings ; *Sculpture ; }, abstract = {The experience of art provides the visitor of a museum or gallery with the opportunity to contemplate and share the human condition both from the physical and psychological point of view. Because of the accessibility and the number of museums throughout Europe, classical European art as both sculpture and painting, affords the viewer the opportunity to experience life from one part of the world over centuries of history. These museums occasionally exhibit pieces showing a person with a human disorder and physical differences. On viewing such artwork, practitioners of health care, especially dysmorphologists, usually find themselves observing such pieces within the context of their practice. In this essay, the coauthors reflect on paintings and sculptures which remind us of our patients with similar physical and medical conditions. Various works of art also provide the opportunity to observe and view the human face from many vantage points and times in history. Several paintings are cited to illustrate the central themes of the Commentary: the human circumstance of disease and differences and the skill of observing and describing the human face.}, }
@article {pmid33974848, year = {2021}, author = {Saupe, T and Montinaro, F and Scaggion, C and Carrara, N and Kivisild, T and D'Atanasio, E and Hui, R and Solnik, A and Lebrasseur, O and Larson, G and Alessandri, L and Arienzo, I and De Angelis, F and Rolfo, MF and Skeates, R and Silvestri, L and Beckett, J and Talamo, S and Dolfini, A and Miari, M and Metspalu, M and Benazzi, S and Capelli, C and Pagani, L and Scheib, CL}, title = {Ancient genomes reveal structural shifts after the arrival of Steppe-related ancestry in the Italian Peninsula.}, journal = {Current biology : CB}, volume = {31}, number = {12}, pages = {2576-2591.e12}, doi = {10.1016/j.cub.2021.04.022}, pmid = {33974848}, issn = {1879-0445}, mesh = {*DNA, Ancient ; Datasets as Topic ; Genetics, Population ; Genome, Human/*genetics ; Genomics ; History, Ancient ; Human Migration/*history ; Humans ; Italy ; Leprosy/genetics ; Phenotype ; }, abstract = {Across Europe, the genetics of the Chalcolithic/Bronze Age transition is increasingly characterized in terms of an influx of Steppe-related ancestry. The effect of this major shift on the genetic structure of populations in the Italian Peninsula remains underexplored. Here, genome-wide shotgun data for 22 individuals from commingled cave and single burials in Northeastern and Central Italy dated between 3200 and 1500 BCE provide the first genomic characterization of Bronze Age individuals (n = 8; 0.001-1.2× coverage) from the central Italian Peninsula, filling a gap in the literature between 1950 and 1500 BCE. Our study confirms a diversity of ancestry components during the Chalcolithic and the arrival of Steppe-related ancestry in the central Italian Peninsula as early as 1600 BCE, with this ancestry component increasing through time. We detect close patrilineal kinship in the burial patterns of Chalcolithic commingled cave burials and a shift away from this in the Bronze Age (2200-900 BCE) along with lowered runs of homozygosity, which may reflect larger changes in population structure. Finally, we find no evidence that the arrival of Steppe-related ancestry in Central Italy directly led to changes in frequency of 115 phenotypes present in the dataset, rather that the post-Roman Imperial period had a stronger influence, particularly on the frequency of variants associated with protection against Hansen's disease (leprosy). Our study provides a closer look at local dynamics of demography and phenotypic shifts as they occurred as part of a broader phenomenon of widespread admixture during the Chalcolithic/Bronze Age transition.}, }
@article {pmid33930288, year = {2021}, author = {Clemente, F and Unterländer, M and Dolgova, O and Amorim, CEG and Coroado-Santos, F and Neuenschwander, S and Ganiatsou, E and Cruz Dávalos, DI and Anchieri, L and Michaud, F and Winkelbach, L and Blöcher, J and Arizmendi Cárdenas, YO and Sousa da Mota, B and Kalliga, E and Souleles, A and Kontopoulos, I and Karamitrou-Mentessidi, G and Philaniotou, O and Sampson, A and Theodorou, D and Tsipopoulou, M and Akamatis, I and Halstead, P and Kotsakis, K and Urem-Kotsou, D and Panagiotopoulos, D and Ziota, C and Triantaphyllou, S and Delaneau, O and Jensen, JD and Moreno-Mayar, JV and Burger, J and Sousa, VC and Lao, O and Malaspinas, AS and Papageorgopoulou, C}, title = {The genomic history of the Aegean palatial civilizations.}, journal = {Cell}, volume = {184}, number = {10}, pages = {2565-2586.e21}, pmid = {33930288}, issn = {1097-4172}, support = {R01 GM135899/GM/NIGMS NIH HHS/United States ; R35 GM139383/GM/NIGMS NIH HHS/United States ; }, mesh = {Civilization/*history ; DNA, Ancient ; *Genome, Human ; *Genome, Mitochondrial ; Greece, Ancient ; History, Ancient ; Human Migration/*history ; Humans ; }, abstract = {The Cycladic, the Minoan, and the Helladic (Mycenaean) cultures define the Bronze Age (BA) of Greece. Urbanism, complex social structures, craft and agricultural specialization, and the earliest forms of writing characterize this iconic period. We sequenced six Early to Middle BA whole genomes, along with 11 mitochondrial genomes, sampled from the three BA cultures of the Aegean Sea. The Early BA (EBA) genomes are homogeneous and derive most of their ancestry from Neolithic Aegeans, contrary to earlier hypotheses that the Neolithic-EBA cultural transition was due to massive population turnover. EBA Aegeans were shaped by relatively small-scale migration from East of the Aegean, as evidenced by the Caucasus-related ancestry also detected in Anatolians. In contrast, Middle BA (MBA) individuals of northern Greece differ from EBA populations in showing ∼50% Pontic-Caspian Steppe-related ancestry, dated at ca. 2,600-2,000 BCE. Such gene flow events during the MBA contributed toward shaping present-day Greek genomes.}, }
@article {pmid33896938, year = {2021}, author = {von Seth, J and Dussex, N and Díez-Del-Molino, D and van der Valk, T and Kutschera, VE and Kierczak, M and Steiner, CC and Liu, S and Gilbert, MTP and Sinding, MS and Prost, S and Guschanski, K and Nathan, SKSS and Brace, S and Chan, YL and Wheat, CW and Skoglund, P and Ryder, OA and Goossens, B and Götherström, A and Dalén, L}, title = {Genomic insights into the conservation status of the world's last remaining Sumatran rhinoceros populations.}, journal = {Nature communications}, volume = {12}, number = {1}, pages = {2393}, pmid = {33896938}, issn = {2041-1723}, support = {217223/Z/19/Z/WT_/Wellcome Trust/United Kingdom ; FC001595/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Animals ; Borneo ; *Conservation of Natural Resources ; *Endangered Species/history ; Female ; Gene Flow ; Genetic Variation ; Genome ; History, 21st Century ; History, Ancient ; Inbreeding ; Indonesia ; Loss of Function Mutation ; Male ; Mutation ; Perissodactyla/*genetics ; Population Density ; Selection, Genetic ; }, abstract = {Small populations are often exposed to high inbreeding and mutational load that can increase the risk of extinction. The Sumatran rhinoceros was widespread in Southeast Asia, but is now restricted to small and isolated populations on Sumatra and Borneo, and most likely extinct on the Malay Peninsula. Here, we analyse 5 historical and 16 modern genomes from these populations to investigate the genomic consequences of the recent decline, such as increased inbreeding and mutational load. We find that the Malay Peninsula population experienced increased inbreeding shortly before extirpation, which possibly was accompanied by purging. The populations on Sumatra and Borneo instead show low inbreeding, but high mutational load. The currently small population sizes may thus in the near future lead to inbreeding depression. Moreover, we find little evidence for differences in local adaptation among populations, suggesting that future inbreeding depression could potentially be mitigated by assisted gene flow among populations.}, }
@article {pmid33857427, year = {2021}, author = {Yaka, R and Mapelli, I and Kaptan, D and Doğu, A and Chyleński, M and Erdal, &#xd6;D and Koptekin, D and Vural, KB and Bayliss, A and Mazzucato, C and Fer, E and Çokoğlu, SS and Lagerholm, VK and Krzewińska, M and Karamurat, C and Gemici, HC and Sevkar, A and Dağtaş, ND and Kılınç, GM and Adams, D and Munters, AR and Sağlıcan, E and Milella, M and Schotsmans, EMJ and Yurtman, E and Çetin, M and Yorulmaz, S and Altınışık, NE and Ghalichi, A and Juras, A and Bilgin, CC and Günther, T and Storå, J and Jakobsson, M and de Kleijn, M and Mustafaoğlu, G and Fairbairn, A and Pearson, J and Togan, &#x130; and Kayacan, N and Marciniak, A and Larsen, CS and Hodder, I and Atakuman, &#xc7; and Pilloud, M and Sürer, E and Gerritsen, F and Özbal, R and Baird, D and Erdal, YS and Duru, G and Özbaşaran, M and Haddow, SD and Knüsel, CJ and Götherström, A and Özer, F and Somel, M}, title = {Variable kinship patterns in Neolithic Anatolia revealed by ancient genomes.}, journal = {Current biology : CB}, volume = {31}, number = {11}, pages = {2455-2468.e18}, pmid = {33857427}, issn = {1879-0445}, mesh = {*Archaeology ; History, Ancient ; Humans ; Pedigree ; *Social Structure ; Turkey ; }, abstract = {The social organization of the first fully sedentary societies that emerged during the Neolithic period in Southwest Asia remains enigmatic,[1] mainly because material culture studies provide limited insight into this issue. However, because Neolithic Anatolian communities often buried their dead beneath domestic buildings,[2] household composition and social structure can be studied through these human remains. Here, we describe genetic relatedness among co-burials associated with domestic buildings in Neolithic Anatolia using 59 ancient genomes, including 22 new genomes from Aşıklı Höyük and Çatalhöyük. We infer pedigree relationships by simultaneously analyzing multiple types of information, including autosomal and X chromosome kinship coefficients, maternal markers, and radiocarbon dating. In two early Neolithic villages dating to the 9th and 8th millennia BCE, Aşıklı Höyük and Boncuklu, we discover that siblings and parent-offspring pairings were frequent within domestic structures, which provides the first direct indication of close genetic relationships among co-burials. In contrast, in the 7th millennium BCE sites of Çatalhöyük and Barcın, where we study subadults interred within and around houses, we find close genetic relatives to be rare. Hence, genetic relatedness may not have played a major role in the choice of burial location at these latter two sites, at least for subadults. This supports the hypothesis that in Çatalhöyük,[3-5] and possibly in some other Neolithic communities, domestic structures may have served as burial location for social units incorporating biologically unrelated individuals. Our results underscore the diversity of kin structures in Neolithic communities during this important phase of sociocultural development.}, }
@article {pmid33661398, year = {2021}, author = {Masiuk, S and Chepurny, M and Buderatska, V and Kukush, A and Shklyar, S and Ivanova, O and Boiko, Z and Zhadan, N and Fedosenko, G and Bilonyk, A and Lev, T and Talerko, M and Kutsen, S and Minenko, V and Viarenich, K and Drozdovitch, V}, title = {Thyroid doses in Ukraine due to [131]I intake after the Chornobyl accident. Report I: revision of direct thyroid measurements.}, journal = {Radiation and environmental biophysics}, volume = {60}, number = {2}, pages = {267-288}, pmid = {33661398}, issn = {1432-2099}, support = {Z99 CA999999/ImNIH/Intramural NIH HHS/United States ; }, mesh = {Adolescent ; Adult ; *Chernobyl Nuclear Accident ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; *Iodine Radioisotopes ; Radiometry/*methods ; *Thyroid Gland ; Ukraine ; Young Adult ; }, abstract = {The increased risk of thyroid cancer among individuals exposed during childhood and adolescence to Iodine-131 ([131]I) is the main statistically significant long-term effect of the Chornobyl accident. Several radiation epidemiological studies have been carried out or are currently in progress in Ukraine, to assess the risk of radiation-related health effects in exposed populations. About 150,000 measurements of [131]I thyroid activity, so-called 'direct thyroid measurements', performed in May-June 1986 in the Ukrainian population served as the main sources of data used to estimate thyroid doses to the individuals of these studies. However, limitations in the direct thyroid measurements have been recently recognized including improper measurement geometry and unknown true values of calibration coefficients for unchecked thyroid detectors. In the present study, a comparative analysis of [131]I thyroid activity measured by calibrated and unchecked devices in residents of the same neighboring settlements was conducted to evaluate the correct measurement geometry and calibration coefficients for measuring devices. As a result, revised values of [131]I thyroid activity were obtained. On average, in Vinnytsia, Kyiv, Lviv and Chernihiv Oblasts and in the city of Kyiv, the revised values of the [131]I thyroid activities were found to be 10-25% higher than previously reported, while in Zhytomyr Oblast, the values of the revised activities were found to be lower by about 50%. New sources of shared and unshared errors associated with estimates of [131]I thyroid activity were identified. The revised estimates of thyroid activity are recommended to be used to develop an updated Thyroid Dosimetry system (TD20) for the entire population of Ukraine as well as to revise the thyroid doses for the individuals included in post-Chornobyl radiation epidemiological studies: the Ukrainian-American cohort of individuals exposed during childhood and adolescence, the Ukrainian in utero cohort and the Chornobyl Tissue Bank.}, }
@article {pmid33601743, year = {2021}, author = {Kendler, KS}, title = {Kraepelin's final views on manic-depressive Illness.}, journal = {Journal of affective disorders}, volume = {282}, number = {}, pages = {979-990}, doi = {10.1016/j.jad.2020.12.200}, pmid = {33601743}, issn = {1573-2517}, mesh = {Adult ; *Bipolar Disorder/diagnosis ; *Genetic Diseases, X-Linked ; Germany ; History, 20th Century ; Humans ; *Psychiatry ; *Psychotic Disorders ; Young Adult ; }, abstract = {At the age of 65, 8 years after finishing his last textbook edition, Emil Kraepelin completed the final edition of his "Introduction to Clinical Psychiatry" which included a mini-textbook for students with a 7-page section on manic-depressive insanity (MDI), a disorder he had formally proposed 22 years earlier, and a series of new detailed case histories, 9 of which examined MDI. This text distills, near the end of his life, Kraepelin's perspective of the key features of MDI. The text and case histories are here translated into English for the first time. Kraepelin's views of the symptoms and signs of melancholia and mania closely aligned to those proposed by DSM-5. He emphasized the importance both of mixed features and the constitutional/personality foundations of MDI suggesting that a particular emotional disposition is often seen both inter-episodically in affected individuals (where they "fill the entire life") and in their unaffected relatives. He illustrates both these points in his case reports. His cases also made clear that for Kraepelin, classical Schneiderian psychotic symptoms and a full catatonic syndrome were consistent with a diagnosis of MDI.}, }
@article {pmid33568824, year = {2021}, author = {Bergström, A and Stringer, C and Hajdinjak, M and Scerri, EML and Skoglund, P}, title = {Origins of modern human ancestry.}, journal = {Nature}, volume = {590}, number = {7845}, pages = {229-237}, pmid = {33568824}, issn = {1476-4687}, support = {/ERC_/European Research Council/International ; /WT_/Wellcome Trust/United Kingdom ; 217223/Z/19/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Africa/ethnology ; Animals ; Fossils ; Gene Flow/genetics ; History, Ancient ; Human Migration/*history ; Humans ; Neanderthals/genetics ; *Pedigree ; }, abstract = {New finds in the palaeoanthropological and genomic records have changed our view of the origins of modern human ancestry. Here we review our current understanding of how the ancestry of modern humans around the globe can be traced into the deep past, and which ancestors it passes through during our journey back in time. We identify three key phases that are surrounded by major questions, and which will be at the frontiers of future research. The most recent phase comprises the worldwide expansion of modern humans between 40 and 60 thousand years ago (ka) and their last known contacts with archaic groups such as Neanderthals and Denisovans. The second phase is associated with a broadly construed African origin of modern human diversity between 60 and 300 ka. The oldest phase comprises the complex separation of modern human ancestors from archaic human groups from 0.3 to 1 million years ago. We argue that no specific point in time can currently be identified at which modern human ancestry was confined to a limited birthplace, and that patterns of the first appearance of anatomical or behavioural traits that are used to define Homo sapiens are consistent with a range of evolutionary histories.}, }
@article {pmid33428619, year = {2021}, author = {Mineta, K and Goto, K and Gojobori, T and Alkuraya, FS}, title = {Population structure of indigenous inhabitants of Arabia.}, journal = {PLoS genetics}, volume = {17}, number = {1}, pages = {e1009210}, pmid = {33428619}, issn = {1553-7404}, mesh = {Africa/epidemiology ; Arabia/epidemiology ; Arabs/*genetics/history ; Asia/epidemiology ; Europe/epidemiology ; Female ; Genome, Human/*genetics ; HapMap Project ; Haplotypes/genetics ; History, Ancient ; Humans ; Inbreeding ; Male ; Population Groups/*genetics/history ; Principal Component Analysis ; Saudi Arabia/epidemiology ; }, abstract = {Modern day Saudi Arabia occupies the majority of historical Arabia, which may have contributed to ancient waves of migration out of Africa. This ancient history has left a lasting imprint in the genetics of the region, including the diverse set of tribes that call Saudi Arabia their home. How these tribes relate to each other and to the world's major populations remains an unanswered question. In an attempt to improve our understanding of the population structure of Saudi Arabia, we conducted genomic profiling of 957 unrelated individuals who self-identify with 28 large tribes in Saudi Arabia. Consistent with the tradition of intra-tribal unions, the subjects showed strong clustering along tribal lines with the distance between clusters correlating with their geographical proximities in Arabia. However, these individuals form a unique cluster when compared to the world's major populations. The ancient origin of these tribal affiliations is supported by analyses that revealed little evidence of ancestral origin from within the 28 tribes. Our results disclose a granular map of population structure and have important implications for future genetic studies into Mendelian and common diseases in the region.}, }
@article {pmid33417825, year = {2021}, author = {Scharf, ME and Peterson, BF}, title = {A Century of Synergy in Termite Symbiosis Research: Linking the Past with New Genomic Insights.}, journal = {Annual review of entomology}, volume = {66}, number = {}, pages = {23-43}, doi = {10.1146/annurev-ento-022420-074746}, pmid = {33417825}, issn = {1545-4487}, mesh = {Animals ; Entomology/*history ; Genomics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Isoptera/genetics/microbiology/*parasitology ; *Microbiota ; *Symbiosis ; }, abstract = {Termites have long been studied for their symbiotic associations with gut microbes. In the late nineteenth century, this relationship was poorly understood and captured the interest of parasitologists such as Joseph Leidy; this research led to that of twentieth-century biologists and entomologists including Cleveland, Hungate, Trager, and Lüscher. Early insights came via microscopy, organismal, and defaunation studies, which led to descriptions of microbes present, descriptions of the roles of symbionts in lignocellulose digestion, and early insights into energy gas utilization by the host termite. Focus then progressed to culture-dependent microbiology and biochemical studies of host-symbiont complementarity, which revealed specific microhabitat requirements for symbionts and noncellulosic mechanisms of symbiosis (e.g., N2 fixation). Today, knowledge on termite symbiosis has accrued exponentially thanks to omic technologies that reveal symbiont identities, functions, and interdependence, as well as intricacies of host-symbiont complementarity. Moving forward, the merging of classical twentieth-century approaches with evolving omic tools should provide even deeper insights into host-symbiont interplay.}, }
@article {pmid33361857, year = {2020}, author = {Mishcheniuk, OY and Kostiukevych, OM and Benkovska, LK and Kravchenko, OM and Klymenko, SV}, title = {CONTRIBUTION OF THE G1691A ALLELE CARRYING OF THE COAGULATION FACTOR V GENE TO THE DEVELOPMENT OF THROMBOSES IN RADIATION-EXPOSED PATIENTS WITH REACTIVE CHANGES IN PERIPHERAL BLOOD.}, journal = {Problemy radiatsiinoi medytsyny ta radiobiolohii}, volume = {25}, number = {}, pages = {502-515}, doi = {10.33145/2304-8336-2020-25-502-515}, pmid = {33361857}, issn = {2313-4607}, mesh = {Aged ; Air Pollutants, Radioactive/adverse effects ; Alleles ; *Chernobyl Nuclear Accident ; Emergency Responders ; Factor V/*genetics ; Female ; Gene Expression ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Prognosis ; Radiation Exposure/*adverse effects ; Radiation, Ionizing ; Soil Pollutants, Radioactive/adverse effects ; Ukraine ; Venous Thrombosis/etiology/*genetics/pathology ; }, abstract = {UNLABELLED: Thrombosis triggers, in addition to «classic» risk factors (RFs) of cardiovascular events, includes the reactive changesof peripheral blood (RCPB), markers of the hereditary thrombophilia and radiation anamnesis. However, results ofmost studies suggest the «classic» RFs are able to neutralize the prothrombogenic potential of the hereditary thrombophilia and other, less powerful predictors of thrombosis.<br><br>OBJECTIVE: to determine the influence of the G1691A allele of the proaccelerin gene carrying to the thrombosis development, taking into account the vascular type of their occurrence, the presence of RFs in individuals with RCPB (reactive leukocytosis and thrombocytosis, and secondary erythrocytosis), as well as with and without radiation anamnesis.<br><br>MATERIAL AND METHODS: In general, it was analyzed the results of clinical and molecular-genetic data of 152 patientswith RCPB, 19 patients had radiation anamnesis, 133 - did not have. The thrombotic complications were detected in5 (26.31 %) of radiation-exposer patients and 25 (18.79 %) patients without radiation anamneses. The carrying ofthe G1691A allele proaccelerin gene (APG) (Leiden mutation (LM)) was detected using the allele-specific polymerasechain reaction.<br><br>RESULTS: The LM was found in 5.9 % (9 carriers) of the general cohort (GC) of RPBC patients. There were no differencein the LM frequency between the groups of patients with and without radiation anamnesis (&#x440; = 0.312). In the groupof radiation-exposer patients (&#x440; = 0.017), as well as in the group without its (&#x440; = 0.031), venous thromboses only weremore frequently in the LM carriers. In the presence of a radiation anamnesis, G1691A APG carriers with RFs have thehigher frequency (&#x440; = 0.008) and the probability of the occurrence (relative risk [RR] = 25.00; CI 95 %: 1.56-399.68)of venous thrombosis. In the group without radiation anamnesis, the frequency of venues thrombosis in the LMcarriers is higher in the younger age subgroup (&#x440; = 0.001), without RFs (p = 0.044) and without RFs under 60 years(&#x440; = 0.023). The risk of venous thrombosis in the G1691A APG carriers of the group without radiation anamnesis is5.78 (95 % CI: 1.58-21.13). In LM carriers without radiation anamnesis and RFs, as well as under the 60 years of age,the probability of venous thrombosis was 6.85 (95 % CI: 1.86-25.22) and 19.40 (95 % CI: 4.64-81.09), respectively,and in the absence of both criteria - 9.57 (95 % CI: 2.49-36.73).<br><br>CONCLUSIONS: In patients with and without radiation anamnesis, the risk of venues thrombosis are observed moreoften in carriers of LM. The carrying of the G1691A APG in patients with RPBC and without RA increased the risk ofvenues thrombosis development in subjects without FRs and below 60 years of age. In the radiation-exposure group,the frequency and the risk of venues thrombosis in the G1691A APG carriers was higher in the subgroup with RFs. It isprobably due to the peculiarity of the samples, or prothrombogenic interaction between LM and radiation-associated endothelial damage.}, }
@article {pmid33361853, year = {2020}, author = {Dyagil, IS and Dmytrenko, IV and Sholoiko, VV and Fedorenko, VG and Shlyakhtichenko, TY and Petrusha, OO and Martina, ZV and Tovstogan, AO and Silayev, YO and Stupakova, ZV and Minchenko, ZM}, title = {CHRONIC MYELOID LEUKEMIA COURSE IN PERSONS EXPOSED TO IONIZING RADIATION AS A RESULT OF THE CHORNOBYL ACCIDENT.}, journal = {Problemy radiatsiinoi medytsyny ta radiobiolohii}, volume = {25}, number = {}, pages = {443-455}, doi = {10.33145/2304-8336-2020-25-443-455}, pmid = {33361853}, issn = {2313-4607}, mesh = {Aged ; Air Pollutants, Radioactive/adverse effects ; Antineoplastic Combined Chemotherapy Protocols/*therapeutic use ; Bone Marrow Cells/immunology/pathology/radiation effects ; *Chernobyl Nuclear Accident ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Drug Resistance, Neoplasm/genetics ; Emergency Responders ; Female ; Food Contamination, Radioactive ; Fusion Proteins, bcr-abl/*genetics ; Gene Expression ; Humans ; Imatinib Mesylate/therapeutic use ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy/etiology/*genetics/mortality ; Male ; Middle Aged ; Prognosis ; Radiation Exposure/*adverse effects ; Radiation Injuries/drug therapy/etiology/*genetics/mortality ; Radiation, Ionizing ; Soil Pollutants, Radioactive/adverse effects ; Survival Analysis ; Translocation, Genetic ; Ukraine ; }, abstract = {OBJECTIVE: Describe and characterize the peculiarities of the chronic myeloid leukemia (CML) course and responseto treatment in patients irradiated as a result of the Chornobyl nuclear power plant (ChNPP) accident based on theassessment of clinical-laboratory and clinical parameters.<br><br>MATERIALS AND METHODS: The CML patients (n = 33) exposed to ionizing radiation as a result of the ChNPP accidentwere enrolled. The comparison group consisted of CML patients (n = 725) with no history of radiation exposure. Allpatients were in the chronic phase of the disease. Clinical, hematological and molecular genetic research methodswere applied.<br><br>RESULTS: Patients exposed to ionizing radiation as a result of the ChNPP accident had no differences in CML manifestation, as well as in classical genetic markers at the onset of the disease compared with patients with no historyof radiation exposure. Reduction of tumor clone on imatinib therapy was significantly less effective in the patientsexposed to ionizing radiation than in cases of no history of radiation exposure. Cases of primary resistance were statistically significantly prevalent in the ChNPP accident consequences clean-up workers while in the residents ofradiologically contaminated areas a statistically significant increase in probability of loss of complete cytogeneticresponse (development of secondary resistance) to imatinib therapy was found. An association was found betweenthe radiation exposure and probability of loss of complete cytogenetic response to imatinib therapy in this group ofpatients.<br><br>CONCLUSION: The radiation exposure in the history even many years before the onset of CML is an unfavorable exogenous factor responsible for the development of resistance to imatinib therapy.}, }
@article {pmid33299185, year = {2020}, author = {Hoyal Cuthill, JF and Guttenberg, N and Budd, GE}, title = {Impacts of speciation and extinction measured by an evolutionary decay clock.}, journal = {Nature}, volume = {588}, number = {7839}, pages = {636-641}, pmid = {33299185}, issn = {1476-4687}, mesh = {Animals ; *Extinction, Biological ; *Fossils ; *Genetic Speciation ; History, Ancient ; *Machine Learning ; Plants ; Time Factors ; }, abstract = {The hypothesis that destructive mass extinctions enable creative evolutionary radiations (creative destruction) is central to classic concepts of macroevolution[1,2]. However, the relative impacts of extinction and radiation on the co-occurrence of species have not been directly quantitatively compared across the Phanerozoic eon. Here we apply machine learning to generate a spatial embedding (multidimensional ordination) of the temporal co-occurrence structure of the Phanerozoic fossil record, covering 1,273,254 occurrences in the Paleobiology Database for 171,231 embedded species. This facilitates the simultaneous comparison of macroevolutionary disruptions, using measures independent of secular diversity trends. Among the 5% most significant periods of disruption, we identify the 'big five' mass extinction events[2], seven additional mass extinctions, two combined mass extinction-radiation events and 15 mass radiations. In contrast to narratives that emphasize post-extinction radiations[1,3], we find that the proportionally most comparable mass radiations and extinctions (such as the Cambrian explosion and the end-Permian mass extinction) are typically decoupled in time, refuting any direct causal relationship between them. Moreover, in addition to extinctions[4], evolutionary radiations themselves cause evolutionary decay (modelled co-occurrence probability and shared fraction of species between times approaching zero), a concept that we describe as destructive creation. A direct test of the time to over-threshold macroevolutionary decay[4] (shared fraction of species between two times ≤ 0.1), counted by the decay clock, reveals saw-toothed fluctuations around a Phanerozoic mean of 18.6 million years. As the Quaternary period began at a below-average decay-clock time of 11 million years, modern extinctions further increase life's decay-clock debt.}, }
@article {pmid33298198, year = {2020}, author = {Tunlid, A and Kristoffersson, U and Åström, F}, title = {A century of Hereditas: from local publication to international journal.}, journal = {Hereditas}, volume = {157}, number = {1}, pages = {50}, pmid = {33298198}, issn = {1601-5223}, support = {H2019-24//Erik Philip-S&#xf6;rensens stiftelse f&#xf6;r fr&#xe4;mjande av genetisk och humanistisk vetenskaplig forskning (SE)/ ; }, mesh = {Genetics ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/*statistics &amp; numerical data ; Serial Publications/history/*statistics &amp; numerical data/trends ; Sweden ; }, abstract = {BACKGROUND: The Mendelian Society of Lund launched Hereditas in 1920. The purpose of this article is to give an overview of Hereditas's hundred-year existence, focusing on the conditions for a learned society to publish a scientific journal, and the journal's importance for the publication and dissemination of genetic research. The article focuses on the historical development of the journal and analyses how the content and orientation of research published in Hereditas have changed over the years.<br><br>METHODS: The historical study is based on the collation and interpretation of archival material, mainly held in the Mendelian Society's archive, which includes the Hereditas archive. The bibliometric analyses are based on bibliographic metadata from Web of Science (WoS). Together with descriptive statistics, co-citation analyses were performed by using BibExcel, in combination with the clustering and visualisation tool VOSviewer. Journals with articles citing Hereditas articles were identified as a complement to the co-citation analyses.<br><br>RESULTS: The history of the journal falls into three main periods: a local period, 1920-1959, when Hereditas was primarily intended for Swedish geneticists; a Scandinavian period, 1960-1988, when Hereditas was the official journal of the Scandinavian Association of Geneticists; and an international period from 1989 onwards. The original decision that Hereditas should cover genetic research with no particular specialisation was retained throughout. Its publications demonstrate the continuing presence of genetic research on plants and animals, albeit with a shifting focus, while human genetics emerged slowly and reached its peak in the period 1960-1988.<br><br>CONCLUSION: In the hundred years of Hereditas's existence, the publishing landscape has changed dramatically, including a far greater number of specialist journals, changes to the academic merit system, new commercial models for publishing, and digitalisation. Over the years, the journal's survival has therefore been dependent on the strong commitment of its owners and an ability to adapt to changing conditions.}, }
@article {pmid33156546, year = {2021}, author = {Nicholas, FW}, title = {Online Mendelian Inheritance in Animals (OMIA): a record of advances in animal genetics, freely available on the Internet for 25 years.}, journal = {Animal genetics}, volume = {52}, number = {1}, pages = {3-9}, doi = {10.1111/age.13010}, pmid = {33156546}, issn = {1365-2052}, mesh = {Animals ; Databases, Genetic/*history ; Genetics ; History, 20th Century ; History, 21st Century ; Internet ; Mutation ; }, abstract = {For the last 25 years, Online Mendelian Inheritance in Animals (OMIA) has been providing free global access to an ever-increasing record of discoveries made by animal geneticists around the world. To mark this 25-year milestone, this document provides a brief account (including some pre-history) of how OMIA came to be; some timelines of important discoveries and advances in the genetics of the animal species covered by OMIA, gleaned from the OMIA database; and an analysis of the current state of knowledge regarding likely causal variants of single-locus traits in OMIA species, also gleaned from the OMIA database.}, }
@article {pmid33059178, year = {2020}, author = {Gombeau, K and Bonzom, JM and Cavalié, I and Camilleri, V and Orjollet, D and Dubourg, N and Beaugelin-Seiller, K and Bourdineaud, JP and Lengagne, T and Armant, O and Ravanat, JL and Adam-Guillermin, C}, title = {Dose-dependent genomic DNA hypermethylation and mitochondrial DNA damage in Japanese tree frogs sampled in the Fukushima Daiichi area.}, journal = {Journal of environmental radioactivity}, volume = {225}, number = {}, pages = {106429}, doi = {10.1016/j.jenvrad.2020.106429}, pmid = {33059178}, issn = {1879-1700}, mesh = {Animals ; Cesium Radioisotopes/analysis ; *DNA Damage ; DNA Methylation ; *DNA, Mitochondrial ; Dose-Response Relationship, Radiation ; *Fukushima Nuclear Accident ; Genomics ; Japan ; Radiation Dosage ; *Radiation Monitoring ; }, abstract = {The long-term consequences of the nuclear disaster at the Fukushima Daiichi Nuclear Power Plant (FDNPP) that occurred on March 2011, have been scarcely studied on wildlife. We sampled Japanese tree frogs (Dryophytes japonicus), in a 50 -km area around the FDNPP to test for an increase of DNA damages and variation of DNA methylation level. The ambient dose rate ranged between 0.4 and 2.8 μGy h[-1] and the total estimated dose rate absorbed by frogs ranged between 0.3 and 7.7 μGy h[-1]. Frogs from contaminated sites exhibited a dose-dependent increase of global genomic DNA methylation level (5-mdC and 5-hmdC) and of mitochondrial DNA damages. Such DNA damages may indicate a genomic instability, which may induce physiological adaptations governed by DNA methylation changes. This study stresses the need for biological data combining targeted molecular methods and classic ecotoxicology, in order to better understand the impacts on wildlife of long term exposure to low ionizing radiation levels.}, }
@article {pmid32984898, year = {2020}, author = {Kitahara, CM and Sosa, JA and Shiels, MS}, title = {Influence of Nomenclature Changes on Trends in Papillary Thyroid Cancer Incidence in the United States, 2000 to 2017.}, journal = {The Journal of clinical endocrinology and metabolism}, volume = {105}, number = {12}, pages = {e4823-30}, pmid = {32984898}, issn = {1945-7197}, mesh = {Adult ; Aged ; Aged, 80 and over ; Endocrinology/history/methods/trends ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Incidence ; Male ; Medical Overuse/statistics &amp; numerical data ; Middle Aged ; Registries ; *Terminology as Topic ; Thyroid Cancer, Papillary/*classification/diagnosis/*epidemiology ; Thyroid Neoplasms/*classification/diagnosis/*epidemiology ; United States/epidemiology ; }, abstract = {CONTEXT: US papillary thyroid carcinoma (PTC) incidence recently declined for the first time in decades, for reasons that remain unclear.<br><br>OBJECTIVE: This work aims to evaluate PTC incidence trends, including by histologic subtype and size, and noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).<br><br>DESIGN: This descriptive study uses US Surveillance, Epidemiology, and End Results-18 cancer registry data (2000-2017).<br><br>PATIENTS: Participants included individuals diagnosed with PTC (2000-2017) or NIFTP (2016-2017).<br><br>RESULTS: During 2000 to 2015, PTC incidence increased an average 7.3% per year, (95% CI, 6.9% to 7.8%) during 2000 to 2009, and 3.7% per year (95% CI, 0.2% to 7.3%) during 2009 to 2012, before stabilizing in 2012 to 2015 (annual percentage change [APC]&#x2005;=&#x2005;1.4% per year, 95% CI, -1.8% to 4.7%) and declining in 2015 to 2017 (APC&#x2005;=&#x2005;-4.6% per year, 95% CI, -7.6% to -1.4%). The recent declines were observed for all sizes of PTC at diagnosis. Incidence of follicular variant of PTC (FVPTC) sharply declined in 2015 to 2017, overall (APC&#x2005;=&#x2005;-21.1% per year; 95% CI, -26.5% to -15.2%) and for all tumor sizes. Observed increases in encapsulated papillary carcinoma (classical PTC subtype) and NIFTP each accounted for 10% of the decline in FVPTC. Classical PTC incidence continuously increased (2000-2009, APC&#x2005;=&#x2005;8.7% per year, 95% CI, 8.1% to 9.4%; 2009-2017, APC&#x2005;=&#x2005;1.0% per year, 95% CI, 0.4% to 1.5%), overall and for all sizes except smaller than 1 cm, as did incidence of other PTC variants combined (2000-2017, APC&#x2005;=&#x2005;5.9% per year, 95% CI, 4.0% to 7.9%).<br><br>CONCLUSION: The reasons underlying PTC incidence trends were multifactorial. Sharp declines in FVPTC incidence during 2015 to 2017 coincided with clinical practice and diagnostic coding changes, including reclassification of noninvasive encapsulated FVPTC from a malignant to in situ neoplasm (NIFTP). Observed increases in NIFTP accounted for 10% of the decline in FVPTC.}, }
@article {pmid32856794, year = {2020}, author = {Kendler, KS and Klee, A}, title = {The turn to controls and the refinement of the concept of hereditary burden: The 1895 study of Jenny Koller.}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {183}, number = {7}, pages = {433-442}, doi = {10.1002/ajmg.b.32819}, pmid = {32856794}, issn = {1552-485X}, mesh = {Case-Control Studies ; Family/psychology ; Genetic Predisposition to Disease/*genetics ; Genetic Testing/history/methods ; History, 18th Century ; History, 19th Century ; Humans ; Mental Disorders/*genetics/history/*psychology ; Parents/psychology ; Risk Factors ; Siblings/psychology ; }, abstract = {Throughout the 19th century, many alienists reported the proportion of their patients who were "hereditarily burdened," meaning they had a positive family history for mental illness. The rates of such burden differed widely because different authors used divergent definition of illness and investigated different groups of relatives. Most importantly, no authors compared rates of burden with those seen in a nonpatient control group. The first such study in the history of psychiatric genetics was published in 1895, the doctoral dissertation of a Swiss physician Jenny Koller working under Auguste Forel. She obtained histories of a range of mental/neurologic disorders in the parents, aunts/uncles, grandparents and siblings of 370 hospitalized psychiatric patients and 370 controls. Rates of any hereditary burden were only modestly higher in cases (78%) than controls (59%). However, when examining individual syndromes, only major mental illness and eccentricities, but not apoplexy, nervous disorders or dementia, were more common in proband than control families. Furthermore, the rates of mental illness and eccentricities were substantially elevated in the first-degree relatives of cases versus controls but not in the second-degree relatives. Koller's study represented a major methodological advance in psychiatric genetics, helping to define which disorders coaggregated with major mental illness.}, }
@article {pmid32776361, year = {2020}, author = {Huminiecki, &#x141;}, title = {A Contemporary Message from Mendel's Logical Empiricism.}, journal = {BioEssays : news and reviews in molecular, cellular and developmental biology}, volume = {42}, number = {9}, pages = {e2000120}, doi = {10.1002/bies.202000120}, pmid = {32776361}, issn = {1521-1878}, support = {2016/21/P/NZ2/03926//National Science Centre, Poland/International ; 665778//European Union's Horizon 2020 research and innovation programme/International ; }, mesh = {*Empiricism ; Genomics ; *Heredity ; History, 20th Century ; Technology ; }, abstract = {The gene is one of the most fundamental concepts in life sciences, having been developed in the mold of the Mendelian paradigm of heredity, which shaped genetics across 150 years. How could Mendel possibly be so prophetic in the middle of 19[th] century, using only the small garden of the monastery as his experimental breeding field? I believe that we are indebted to Mendel's mastery of the scientific method, which was far ahead of his time. Although his experimental technology was literally garden-variety, Mendel's excellence in the method of science, algebra, and logical analysis helped him in designing the right experiment and in interpreting the results insightfully. This may be valuable to recall in today's technology-focused culture, where the center of interest tends to be on the generation and description of high-throughput datasets from specialized genomics screens. As Mendel's story suggests, progress in 21[st] century genetics may also depend on the development of robust concepts and generalizations.}, }
@article {pmid32762461, year = {2020}, author = {Hegele, RA and Dron, JS}, title = {2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia.}, journal = {Arteriosclerosis, thrombosis, and vascular biology}, volume = {40}, number = {9}, pages = {1970-1981}, doi = {10.1161/ATVBAHA.120.313065}, pmid = {32762461}, issn = {1524-4636}, support = {//CIHR/Canada ; }, mesh = {Biomarkers/blood ; DNA Copy Number Variations ; Dyslipidemias/blood/diagnosis/*genetics/history ; Genetic Predisposition to Disease ; Genetic Testing ; *Genetic Variation ; High-Throughput Nucleotide Sequencing ; History, 20th Century ; History, 21st Century ; Humans ; Lipids/*blood ; Multifactorial Inheritance ; Phenotype ; Prognosis ; Risk Assessment ; Risk Factors ; }, abstract = {Dyslipidemias include both rare single gene disorders and common conditions that have a complex underlying basis. In London, ON, there is fortuitous close physical proximity between the Lipid Genetics Clinic and the London Regional Genomics Centre. For >30 years, we have applied DNA sequencing of clinical samples to help answer scientific questions. More than 2000 patients referred with dyslipidemias have participated in an ongoing translational research program. In 2013, we transitioned to next-generation sequencing; our targeted panel is designed to concurrently assess both monogenic and polygenic contributions to dyslipidemias. Patient DNA is screened for rare variants underlying 25 mendelian dyslipidemias, including familial hypercholesterolemia, hepatic lipase deficiency, abetalipoproteinemia, and familial chylomicronemia syndrome. Furthermore, polygenic scores for LDL (low-density lipoprotein) and HDL (high-density lipoprotein) cholesterol, and triglycerides are calculated for each patient. We thus simultaneously document both rare and common genetic variants, allowing for a broad view of genetic predisposition for both individual patients and cohorts. For instance, among patients referred with severe hypertriglyceridemia, defined as ≥10 mmol/L (≥885 mg/dL), <1% have a mendelian disorder (ie, autosomal recessive familial chylomicronemia syndrome), ≈15% have heterozygous rare variants (a >3-fold increase over normolipidemic individuals), and ≈35% have an extreme polygenic score (a >3-fold increase over normolipidemic individuals). Other dyslipidemias show a different mix of genetic determinants. Genetic results are discussed with patients and can support clinical decision-making. Integrating DNA testing into clinical care allows for a bidirectional flow of information, which facilitates scientific discoveries and clinical translation.}, }
@article {pmid32728085, year = {2020}, author = {Chessa, D and Murgia, M and Sias, E and Deligios, M and Mazzarello, V and Fiamma, M and Rovina, D and Carenti, G and Ganau, G and Pintore, E and Fiori, M and Kay, GL and Ponzeletti, A and Cappuccinelli, P and Kelvin, DJ and Wain, J and Rubino, S}, title = {Metagenomics and microscope revealed T. trichiura and other intestinal parasites in a cesspit of an Italian nineteenth century aristocratic palace.}, journal = {Scientific reports}, volume = {10}, number = {1}, pages = {12656}, pmid = {32728085}, issn = {2045-2322}, mesh = {Animals ; DNA, Ancient/*isolation &amp; purification ; DNA, Protozoan/genetics ; DNA, Ribosomal/genetics ; Geologic Sediments/parasitology ; High-Throughput Nucleotide Sequencing ; History, 19th Century ; Host Specificity ; Humans ; Intestinal Diseases, Parasitic/*history ; Italy ; Metagenomics/*methods ; RNA, Ribosomal, 18S/*genetics ; Sequence Analysis, DNA ; Trichuriasis/history ; Trichuris/*classification/genetics/isolation &amp; purification ; }, abstract = {This study evidenced the presence of parasites in a cesspit of an aristocratic palace of nineteenth century in Sardinia (Italy) by the use of classical paleoparasitological techniques coupled with next-generation sequencing. Parasite eggs identified by microscopy included helminth genera pathogenic for humans and animals: the whipworm Trichuris sp., the roundworm Ascaris sp., the flatworm Dicrocoelium sp. and the fish tapeworm Diphyllobothrium sp. In addition, 18S rRNA metabarcoding and metagenomic sequencing analysis allowed the first description in Sardinia of aDNA of the human specific T. trichiura species and Ascaris genus. Their presence is important for understanding the health conditions, hygiene habits, agricultural practices and the diet of the local inhabitants in the period under study.}, }
@article {pmid32719233, year = {2020}, author = {Sadhukhan, D and Biswas, A and Bhaduri, A and Sarkar, N and Biswas, A and Das, SK and Banerjee, TK and Ray, K and Ray, J}, title = {Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism.}, journal = {The Indian journal of medical research}, volume = {151}, number = {6}, pages = {592-597}, pmid = {32719233}, issn = {0975-9174}, mesh = {Adult ; Female ; Genetic Predisposition to Disease ; History, 16th Century ; Humans ; India/epidemiology ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/*genetics ; Male ; Middle Aged ; Mutation ; *Parkinson Disease/epidemiology/genetics ; Penetrance ; }, abstract = {BACKGROUND &amp; OBJECTIVES: Parkinsonian disorder, including Parkinson's disease (PD), is an aetiologically complex neurodegenerative disorder. Mutations in leucine-rich repeat kinase 2 (LRRK2) gene have been implicated in an autosomal dominant form of PD with variable penetrance. The identification of a common LRRK2 variant (p.Gly2019Ser) in dementia with Lewy bodies indicated its potential role in Parkinsonian disorder. The current study was aimed to identify the p.Gly2019Ser variant in Indian patients with Parkinsonian disorder.<br><br>METHODS: The patient group consisting of 412 classical PD patients, 107 PD patients with cognitive impairment, 107 patients with Parkinson plus syndrome and 200 unrelated controls were recruited from eastern part of India. The allele representing p.Gly2019Ser variant was screened by polymerase chain reaction followed by restriction fragment length polymorphism analysis.<br><br>RESULTS: The p.Gly2019Ser variant was identified in an East Indian young-onset female PD patient in a heterozygous state having several motor and autonomic problems without disturbed cognition. Her younger brother, sister and elder son harbouring the same mutation were asymptomatic carriers for the variant. However, the influence of DNM3 on decreased disease onset in this family was not clear.<br><br>Identification of the p.Gly2019Ser variant in only one patient among a large number of Indian patients (n=626) with Parkinsonian disorder in our study suggests a limited role of the LRRK2 variant towards disease pathogenesis.}, }
@article {pmid32647113, year = {2020}, author = {Haruda, AF and Ventresca Miller, AR and Paijmans, JLA and Barlow, A and Tazhekeyev, A and Bilalov, S and Hesse, Y and Preick, M and King, T and Thomas, R and Härke, H and Arzhantseva, I}, title = {The earliest domestic cat on the Silk Road.}, journal = {Scientific reports}, volume = {10}, number = {1}, pages = {11241}, pmid = {32647113}, issn = {2045-2322}, mesh = {Animal Feed ; Animal Husbandry/history ; Animals ; Archaeology/methods ; Bone and Bones/physiology ; Carbon Isotopes ; Cats/*genetics ; Cities ; Cluster Analysis ; Ecology ; Genetic Variation ; Geography ; History, Ancient ; Kazakhstan ; Nitrogen Isotopes ; Pets/*history ; Phylogeny ; }, abstract = {We present the earliest evidence for domestic cat (Felis catus L., 1758) from Kazakhstan, found as a well preserved skeleton with extensive osteological pathologies dating to 775-940 cal CE from the early medieval city of Dzhankent, Kazakhstan. This urban settlement was located on the intersection of the northern Silk Road route which linked the cities of Khorezm in the south to the trading settlements in the Volga region to the north and was known in the tenth century CE as the capital of the nomad Oghuz. The presence of this domestic cat, presented here as an osteobiography using a combination of zooarchaeological, genetic, and isotopic data, provides proxy evidence for a fundamental shift in the nature of human-animal relationships within a previously pastoral region. This illustrates the broader social, cultural, and economic changes occurring within the context of rapid urbanisation during the early medieval period along the Silk Road.}, }
@article {pmid32638691, year = {2020}, author = {Eaves, L}, title = {Birmingham and Beyond.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {68-71}, doi = {10.1017/thg.2020.27}, pmid = {32638691}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Models, Genetic ; Twin Studies as Topic/history ; Twins/*genetics ; }, abstract = {Nick Martin was a doctoral student of mine at the University of Birmingham in the mid 1970s. In this review, I discuss two of Nick's earliest and most seminal contributions to the field of behavior genetics. First, Martin and Eaves' (1977) extension of the model-fitting approach to multivariate data, which laid the theoretical groundwork for a generation of multivariate behavior genetic studies. Second, the Martin et al.'s (1978) manuscript on the power of the classical twin design, which showed that thousands of twin pairs would be required in order to reliably estimate components of variance, and has served as impetus for the formation of large-scale twin registries across the world. I discuss these contributions against the historical backdrop of a time when we and others were struggling with the challenge of figuring out how to incorporate gene-by-environment interaction, gene-environment correlation, mate selection and cultural transmission into more complex genetic models of human behavior.}, }
@article {pmid32638684, year = {2020}, author = {Sham, PC and Purcell, SM and Cherny, SS and Neale, MC and Neale, BM}, title = {Statistical Power and the Classical Twin Design.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {87-89}, doi = {10.1017/thg.2020.46}, pmid = {32638684}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history/statistics &amp; numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Sample Size ; Twin Studies as Topic/*history/statistics &amp; numerical data ; Twins/*genetics/statistics &amp; numerical data ; }, abstract = {Dr Nick Martin has made enormous contributions to the field of behavior genetics over the past 50 years. Of his many seminal papers that have had a profound impact, we focus on his early work on the power of twin studies. He was among the first to recognize the importance of sample size calculation before conducting a study to ensure sufficient power to detect the effects of interest. The elegant approach he developed, based on the noncentral chi-squared distribution, has been adopted by subsequent researchers for other genetic study designs, and today remains a standard tool for power calculations in structural equation modeling and other areas of statistical analysis. The present brief article discusses the main aspects of his seminal paper, and how it led to subsequent developments, by him and others, as the field of behavior genetics evolved into the present era.}, }
@article {pmid32554594, year = {2020}, author = {Düx, A and Lequime, S and Patrono, LV and Vrancken, B and Boral, S and Gogarten, JF and Hilbig, A and Horst, D and Merkel, K and Prepoint, B and Santibanez, S and Schlotterbeck, J and Suchard, MA and Ulrich, M and Widulin, N and Mankertz, A and Leendertz, FH and Harper, K and Schnalke, T and Lemey, P and Calvignac-Spencer, S}, title = {Measles virus and rinderpest virus divergence dated to the sixth century BCE.}, journal = {Science (New York, N.Y.)}, volume = {368}, number = {6497}, pages = {1367-1370}, pmid = {32554594}, issn = {1095-9203}, support = {U19 AI135995/AI/NIAID NIH HHS/United States ; /ERC_/European Research Council/International ; }, mesh = {Cities/history ; Communicable Diseases, Emerging/*history/virology ; *Evolution, Molecular ; *Genetic Variation ; History, Ancient ; Humans ; Measles/*history/virology ; Measles virus/*genetics ; Rinderpest virus/genetics ; }, abstract = {Many infectious diseases are thought to have emerged in humans after the Neolithic revolution. Although it is broadly accepted that this also applies to measles, the exact date of emergence for this disease is controversial. We sequenced the genome of a 1912 measles virus and used selection-aware molecular clock modeling to determine the divergence date of measles virus and rinderpest virus. This divergence date represents the earliest possible date for the establishment of measles in human populations. Our analyses show that the measles virus potentially arose as early as the sixth century BCE, possibly coinciding with the rise of large cities.}, }
@article {pmid32532136, year = {2020}, author = {Capelli, I and Aiello, V and Gasperoni, L and Comai, G and Corradetti, V and Ravaioli, M and Biagini, E and Graziano, C and La Manna, G}, title = {Kidney Transplant in Fabry Disease: A Revision of the Literature.}, journal = {Medicina (Kaunas, Lithuania)}, volume = {56}, number = {6}, pages = {}, pmid = {32532136}, issn = {1648-9144}, mesh = {Adult ; Fabry Disease/*complications/history/mortality ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Transplantation/adverse effects/*history/*standards ; Male ; }, abstract = {Fabry disease is classified as a rare X-linked disease caused by a complete or partial defect of enzyme alpha-galactosidase, due to GLA gene mutations. This disorder leads to intracellular globotriaosylceramide (Gb3) deposition associated with increased Gb3 plasma levels. Most of the symptoms of the disease, involving kidneys, heart and nervous system, result from this progressive Gb3 deposition. The incidence is estimated in 1/50,000 to 1/117,000 in males. Fabry nephropathy begins with microalbuminuria and/or proteinuria, which, in the classic form, appear from childhood. Thus, a progressive decline of renal function can start at a young age, and evolve to kidney failure, requiring dialysis or renal transplantation. Enzyme replacement therapy (ERT), available since 2001 for Fabry disease, has been increasingly introduced into the clinical practice, with overall positive short-term and long-term effects in terms of ventricular hypertrophy and renal function. Kidney transplantation represents a relevant therapeutic option for Fabry nephropathy management, for patients reaching end-stage renal disease, but little is known about long-term outcomes, overall patient survival or the possible role of ERT after transplant. The purpose of this review is to analyze the literature on every aspect related to kidney transplantation in patients with Fabry nephropathy: from the analysis of transplant outcomes, to the likelihood of disease recurrence, up to the effects of ERT and its possible interference with immunosuppression.}, }
@article {pmid32497286, year = {2020}, author = {Coutinho, A and Günther, T and Munters, AR and Svensson, EM and Götherström, A and Storå, J and Malmström, H and Jakobsson, M}, title = {The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herders.}, journal = {American journal of physical anthropology}, volume = {172}, number = {4}, pages = {638-649}, doi = {10.1002/ajpa.24079}, pmid = {32497286}, issn = {1096-8644}, mesh = {Burial/history ; Chromosomes, Human, Y/genetics ; DNA, Ancient/analysis ; DNA, Mitochondrial/genetics ; Female ; Genetics, Population ; Genome, Human/genetics ; History, Ancient ; Human Migration/*history ; Humans ; Male ; Scandinavian and Nordic Countries/ethnology ; Tooth/chemistry ; *White People/ethnology/genetics ; }, abstract = {OBJECTIVES: In order to understand contacts between cultural spheres in the third millennium BC, we investigated the impact of a new herder culture, the Battle Axe culture, arriving to Scandinavia on the people of the sub-Neolithic hunter-gatherer Pitted Ware culture. By investigating the genetic make-up of Pitted Ware culture people from two types of burials (typical Pitted Ware culture burials and Battle Axe culture-influenced burials), we could determine the impact of migration and the impact of cultural influences.<br><br>METHODS: We sequenced and analyzed the genomes of 25 individuals from typical Pitted Ware culture burials and from Pitted Ware culture burials with Battle Axe culture influences in order to determine if the different burial types were associated with different gene-pools.<br><br>RESULTS: The genomic data show that all individuals belonged to one genetic population-a population associated with the Pitted Ware culture-irrespective of the burial style.<br><br>CONCLUSION: We conclude that the Pitted Ware culture communities were not impacted by gene-flow, that is, via migration or exchange of mates. These different cultural expressions in the Pitted Ware culture burials are instead a consequence of cultural exchange.}, }
@article {pmid32482192, year = {2020}, author = {Verhulst, B}, title = {Sociopolitical Attitudes Through the Lens of Behavioral Genetics: Contributions from Dr Nicholas Martin.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {125-126}, doi = {10.1017/thg.2020.30}, pmid = {32482192}, issn = {1832-4274}, mesh = {*Gene-Environment Interaction ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; Personality/*genetics ; Politics ; Social Sciences/*history ; }, abstract = {Professor Nicholas (Nick) Martin spearheaded initial investigations into the genetic basis of political attitudes and behaviors, demonstrating that behaviors that are perceived as socially constructed could have a biological basis. As he showed, the typical mode of inheritance for political attitudes consists of approximately equal proportions of variance from additive genetic, shared environmental and unique environmental sources. This differs from other psychological variables, such as personality traits, which tend to be characterized by genetic and unique environmental sources of variation. By treating political attitudes as a model phenotype, Nick Martin was able to leverage the unique pattern of observed intergenerational transmission for political attitudes to reexamine the quintessential assumptions of the classical twin model. Specifically, by creatively leveraging the nuances of the genetic architecture of political attitudes, he was able to demonstrate the robustness of the equal environments assumption and suggest corrections to account for assortative mating. These advances have had a substantial impact on both the fields of political science, as well as behavioral and quantitative genetics.}, }
@article {pmid32470401, year = {2020}, author = {Skourtanioti, E and Erdal, YS and Frangipane, M and Balossi Restelli, F and Yener, KA and Pinnock, F and Matthiae, P and Özbal, R and Schoop, UD and Guliyev, F and Akhundov, T and Lyonnet, B and Hammer, EL and Nugent, SE and Burri, M and Neumann, GU and Penske, S and Ingman, T and Akar, M and Shafiq, R and Palumbi, G and Eisenmann, S and D'Andrea, M and Rohrlach, AB and Warinner, C and Jeong, C and Stockhammer, PW and Haak, W and Krause, J}, title = {Genomic History of Neolithic to Bronze Age Anatolia, Northern Levant, and Southern Caucasus.}, journal = {Cell}, volume = {181}, number = {5}, pages = {1158-1175.e28}, doi = {10.1016/j.cell.2020.04.044}, pmid = {32470401}, issn = {1097-4172}, mesh = {Archaeology/methods ; DNA, Ancient/*analysis ; DNA, Mitochondrial/genetics ; Ethnicity/*genetics/history ; Gene Flow/*genetics/physiology ; Genetic Variation/genetics ; Genetics, Population/methods ; Genome, Human/genetics ; Genomics/methods ; Haplotypes ; History, Ancient ; Human Migration/history ; Humans ; Mediterranean Region ; Middle East ; Sequence Analysis, DNA ; }, abstract = {Here, we report genome-wide data analyses from 110 ancient Near Eastern individuals spanning the Late Neolithic to Late Bronze Age, a period characterized by intense interregional interactions for the Near East. We find that 6[th] millennium BCE populations of North/Central Anatolia and the Southern Caucasus shared mixed ancestry on a genetic cline that formed during the Neolithic between Western Anatolia and regions in today's Southern Caucasus/Zagros. During the Late Chalcolithic and/or the Early Bronze Age, more than half of the Northern Levantine gene pool was replaced, while in the rest of Anatolia and the Southern Caucasus, we document genetic continuity with only transient gene flow. Additionally, we reveal a genetically distinct individual within the Late Bronze Age Northern Levant. Overall, our study uncovers multiple scales of population dynamics through time, from extensive admixture during the Neolithic period to long-distance mobility within the globalized societies of the Late Bronze Age. VIDEO ABSTRACT.}, }
@article {pmid32470374, year = {2020}, author = {Haber, M and Nassar, J and Almarri, MA and Saupe, T and Saag, L and Griffith, SJ and Doumet-Serhal, C and Chanteau, J and Saghieh-Beydoun, M and Xue, Y and Scheib, CL and Tyler-Smith, C}, title = {A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.}, journal = {American journal of human genetics}, volume = {107}, number = {1}, pages = {149-157}, pmid = {32470374}, issn = {1537-6605}, support = {/WT_/Wellcome Trust/United Kingdom ; }, mesh = {DNA/*genetics ; Egypt ; Ethnicity/genetics/history ; Genetics, Population/*history ; Genome, Human/genetics ; Haplotypes/genetics ; History, Ancient ; Human Migration/history ; Humans ; Middle East ; }, abstract = {The Iron and Classical Ages in the Near East were marked by population expansions carrying cultural transformations that shaped human history, but the genetic impact of these events on the people who lived through them is little-known. Here, we sequenced the whole genomes of 19 individuals who each lived during one of four time periods between 800 BCE and 200 CE in Beirut on the Eastern Mediterranean coast at the center of the ancient world's great civilizations. We combined these data with published data to traverse eight archaeological periods and observed any genetic changes as they arose. During the Iron Age (∼1000 BCE), people with Anatolian and South-East European ancestry admixed with people in the Near East. The region was then conquered by the Persians (539 BCE), who facilitated movement exemplified in Beirut by an ancient family with Egyptian-Lebanese admixed members. But the genetic impact at a population level does not appear until the time of Alexander the Great (beginning 330 BCE), when a fusion of Asian and Near Easterner ancestry can be seen, paralleling the cultural fusion that appears in the archaeological records from this period. The Romans then conquered the region (31 BCE) but had little genetic impact over their 600 years of rule. Finally, during the Ottoman rule (beginning 1516 CE), Caucasus-related ancestry penetrated the Near East. Thus, in the past 4,000 years, three limited admixture events detectably impacted the population, complementing the historical records of this culturally complex region dominated by the elite with genetic insights from the general population.}, }
@article {pmid32453973, year = {2020}, author = {Roberts, J}, title = {A Tale of Good Fortune in the Era of DNA.}, journal = {Annual review of microbiology}, volume = {74}, number = {}, pages = {1-19}, doi = {10.1146/annurev-micro-012520-073029}, pmid = {32453973}, issn = {1545-3251}, mesh = {Bacteriophage lambda/*genetics/physiology ; *DNA ; *DNA Damage ; Gene Expression Regulation ; History, 20th Century ; Humans ; Male ; RNA, Viral/genetics ; Research/history ; Transcription Factors ; *Transcription, Genetic ; }, abstract = {Two strains of good fortune in my career were to stumble upon the Watson-Gilbert laboratory at Harvard when I entered graduate school in 1964, and to study gene regulation in bacteriophage λ when I was there. λ was almost entirely a genetic item a few years before, awaiting biochemical incarnation. Throughout my career I was a relentless consumer of the work of previous and current generations of λ geneticists. Empowered by this background, my laboratory made contributions in two areas. The first was regulation of early gene transcription in λ, the study of which began with the discovery of the Rho transcription termination factor, and the regulatory mechanism of transcription antitermination by the λ N protein, subjects of my thesis work. This was developed into a decades-long program during my career at Cornell, studying the mechanism of transcription termination and antitermination. The second area was the classic problem of prophage induction in response to cellular DNA damage, the study of which illuminated basic cellular processes to survive DNA damage.}, }
@article {pmid32423516, year = {2020}, author = {Visscher, PM}, title = {Musings on Visscher et al. (2006).}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {107-108}, doi = {10.1017/thg.2020.21}, pmid = {32423516}, issn = {1832-4274}, mesh = {Genetic Markers/*genetics ; History, 20th Century ; History, 21st Century ; Humans ; Twin Studies as Topic/*history ; Twins/*genetics ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics ; }, abstract = {The classical twin design relies on a number of strong number of assumptions in order to yield unbiased estimates of heritability. This includes the equal environments assumption - that monozygotic and dizygotic twins experience similar degrees of environmental similarity - an assumption that is likely to be violated in practice for many traits of interest. An alternative method of estimating heritability that does not suffer from many of these limitations is to model trait similarity between sibling pairs as a function of their empirical genome-wide identity by descent sharing, estimated from genetic markers. In this review, I recount the story behind Nick Martin's and my development of this method, our first attempts at applying it in a human population and more recent studies using the original and related methods to estimate trait heritability.}, }
@article {pmid32303690, year = {2020}, author = {Linderholm, A and Kılınç, GM and Szczepanek, A and Włodarczak, P and Jarosz, P and Belka, Z and Dopieralska, J and Werens, K and Górski, J and Mazurek, M and Hozer, M and Rybicka, M and Ostrowski, M and Bagińska, J and Koman, W and Rodríguez-Varela, R and Storå, J and Götherström, A and Krzewińska, M}, title = {Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.}, journal = {Scientific reports}, volume = {10}, number = {1}, pages = {6885}, pmid = {32303690}, issn = {2045-2322}, mesh = {Burial/history ; Carbon Isotopes/*analysis/history ; Culture ; DNA, Ancient/analysis ; Europe ; Female ; *Genome, Human ; Genomics ; History, Ancient ; Human Migration/history ; Humans ; Male ; Nitrogen Isotopes/*analysis/history ; Poland ; }, abstract = {During the Final Eneolithic the Corded Ware Complex (CWC) emerges, chiefly identified by its specific burial rites. This complex spanned most of central Europe and exhibits demographic and cultural associations to the Yamnaya culture. To study the genetic structure and kin relations in CWC communities, we sequenced the genomes of 19 individuals located in the heartland of the CWC complex region, south-eastern Poland. Whole genome sequence and strontium isotope data allowed us to investigate genetic ancestry, admixture, kinship and mobility. The analysis showed a unique pattern, not detected in other parts of Poland; maternally the individuals are linked to earlier Neolithic lineages, whereas on the paternal side a Steppe ancestry is clearly visible. We identified three cases of kinship. Of these two were between individuals buried in double graves. Interestingly, we identified kinship between a local and a non-local individual thus discovering a novel, previously unknown burial custom.}, }
@article {pmid32297323, year = {2020}, author = {Juras, A and Makarowicz, P and Chyleński, M and Ehler, E and Malmström, H and Krzewińska, M and Pospieszny, &#x141; and Górski, J and Taras, H and Szczepanek, A and Polańska, M and Włodarczak, P and Szyca, A and Lasota-Kuś, A and Wójcik, I and Jakobsson, M and Dabert, M}, title = {Mitochondrial genomes from Bronze Age Poland reveal genetic continuity from the Late Neolithic and additional genetic affinities with the steppe populations.}, journal = {American journal of physical anthropology}, volume = {172}, number = {2}, pages = {176-188}, doi = {10.1002/ajpa.24057}, pmid = {32297323}, issn = {1096-8644}, mesh = {Adult ; Anthropology, Physical ; Cemeteries ; Child ; DNA, Ancient/*analysis ; Female ; *Genetics, Population ; Genome, Mitochondrial/*genetics ; Haplotypes/genetics ; History, Ancient ; Human Migration ; Humans ; Male ; Poland ; White People/*genetics ; }, abstract = {OBJECTIVE: In this work we aim to investigate the origins and genetic affinities of Bronze Age populations (2,400-1,100 BC) from the region of southern Poland and to trace maternal kinship patterns present in the burials of those populations by the use of complete mitochondrial genomes.<br><br>MATERIALS AND METHODS: We performed ancient DNA analyses for Bronze Age individuals from present-day Poland associated with the Strzy&#x17c;ow culture, the Mierzanowice culture, and the Trzciniec Cultural circle. To obtain complete mitochondrial genomes, we sequenced genomic libraries using Illumina platform. Additionally, hybridization capture was used to enrich some of the samples for mitochondrial DNA. AMS [14] C-dating was conducted for 51 individuals to verify chronological and cultural attribution of the analyzed samples.<br><br>RESULTS: Complete ancient mitochondrial genomes were generated for 80 of the Bronze Age individuals from present-day Poland. The results of the population genetic analyses indicate close maternal genetic affinity between Mierzanowice, Trzciniec, and Corded Ware culture-associated populations. This is in contrast to the genetically more distant Strzy&#x17c;&#xf3;w people that displayed closer maternal genetic relation to steppe populations associated with the preceding Yamnaya culture and Catacomb culture, and with later Scythians. Potential maternal kinship relations were identified in burials of Mierzanowice and Trzciniec populations analyzed in this study.<br><br>DISCUSSION: Results revealed genetic continuity from the Late Neolithic Corded Ware groups to Bronze Age Mierzanowice and Trzciniec-associated populations, and possible additional genetic contribution from the steppe to the formation of the Strzy&#x17c;&#xf3;w-associated group at the end of 3rd millennium BC. Mitochondrial patterns indicated several pairs of potentially maternally related individuals mostly in Trzciniec-associated group.}, }
@article {pmid32125391, year = {2020}, author = {}, title = {Toxics.}, journal = {JAMA}, volume = {323}, number = {9}, pages = {898}, doi = {10.1001/jama.2019.13334}, pmid = {32125391}, issn = {1538-3598}, mesh = {Animals ; Cardiovascular System ; Female ; Genetic Diseases, Inborn/*history ; Germ Theory of Disease/history ; History, 19th Century ; Humans ; Male ; Poisons/history ; Toxins, Biological/*history ; }, }
@article {pmid32119789, year = {2020}, author = {Davies, KE}, title = {The Long Journey from Diagnosis to Therapy.}, journal = {Annual review of genomics and human genetics}, volume = {21}, number = {}, pages = {1-13}, doi = {10.1146/annurev-genom-112019-083518}, pmid = {32119789}, issn = {1545-293X}, support = {MR/N010698/1/MRC_/Medical Research Council/United Kingdom ; }, mesh = {Animals ; *Disease Models, Animal ; Dystrophin/*genetics ; Gene Editing ; *Genetic Therapy ; History, 20th Century ; History, 21st Century ; Humans ; Muscular Dystrophy, Duchenne/*diagnosis/*therapy ; *Mutation ; Periodicals as Topic ; }, abstract = {I was honored to be asked by the Editorial Committee of the Annual Review of Genomics and Genetics to write an autobiographical account of my life in science and in genetics in particular. The field has moved from mapping Mendelian disorders 40 years ago to the delivery of effective therapies for some monogenic disorders today. My 40-year journey from diagnosis to therapy for Duchenne muscular dystrophy has depended on collaborations among basic scientists, clinicians, medical charities, genetic counselors, biotech companies, and affected families. The future of human genetics looks even more exciting, with techniques such as single-cell sequencing and somatic cell CRISPR editing opening up opportunities for precision medicine and accelerating progress.}, }
@article {pmid32062721, year = {2020}, author = {Lanciego, JL and Wouterlood, FG}, title = {Neuroanatomical tract-tracing techniques that did go viral.}, journal = {Brain structure &amp; function}, volume = {225}, number = {4}, pages = {1193-1224}, pmid = {32062721}, issn = {1863-2661}, support = {340527//European Research Council Advanced Grants/ ; PI2017/02//Ciberned's Intramural Program/ ; BFU2017-82407-R//FEDER/Ministerio de Ciencia, Innovaci&#xf3;n y Universidades - Agencia Estatal de Investigaci&#xf3;n/ ; 046-2017_NAB7//Department of Health, Government of Navarra/ ; 011-1383-2019-000006 (PI031)//Department of Health, Government of Navarra/ ; }, mesh = {Animals ; Axonal Transport ; Brain/*cytology ; History, 20th Century ; History, 21st Century ; Humans ; Image Processing, Computer-Assisted ; Neural Pathways/cytology ; *Neuroanatomical Tract-Tracing Techniques/history ; Neurons/*cytology ; }, abstract = {Neuroanatomical tracing methods remain fundamental for elucidating the complexity of brain circuits. During the past decades, the technical arsenal at our disposal has been greatly enriched, with a steady supply of fresh arrivals. This paper provides a landscape view of classical and modern tools for tract-tracing purposes. Focus is placed on methods that have gone viral, i.e., became most widespread used and fully reliable. To keep an historical perspective, we start by reviewing one-dimensional, standalone transport-tracing tools; these including today's two most favorite anterograde neuroanatomical tracers such as Phaseolus vulgaris-leucoagglutinin and biotinylated dextran amine. Next, emphasis is placed on several classical tools widely used for retrograde neuroanatomical tracing purposes, where Fluoro-Gold in our opinion represents the best example. Furthermore, it is worth noting that multi-dimensional paradigms can be designed by combining different tracers or by applying a given tracer together with detecting one or more neurochemical substances, as illustrated here with several examples. Finally, it is without any doubt that we are currently witnessing the unstoppable and spectacular rise of modern molecular-genetic techniques based on the use of modified viruses as delivery vehicles for genetic material, therefore, pushing the tract-tracing field forward into a new era. In summary, here, we aim to provide neuroscientists with the advice and background required when facing a choice on which neuroanatomical tracer-or combination thereof-might be best suited for addressing a given experimental design.}, }
@article {pmid31988114, year = {2020}, author = {Kolobova, KA and Roberts, RG and Chabai, VP and Jacobs, Z and Krajcarz, MT and Shalagina, AV and Krivoshapkin, AI and Li, B and Uthmeier, T and Markin, SV and Morley, MW and O'Gorman, K and Rudaya, NA and Talamo, S and Viola, B and Derevianko, AP}, title = {Archaeological evidence for two separate dispersals of Neanderthals into southern Siberia.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {6}, pages = {2879-2885}, pmid = {31988114}, issn = {1091-6490}, mesh = {Animals ; *Archaeology ; Caves ; Fossils/history ; History, Ancient ; Neanderthals/*genetics ; Siberia ; }, abstract = {Neanderthals were once widespread across Europe and western Asia. They also penetrated into the Altai Mountains of southern Siberia, but the geographical origin of these populations and the timing of their dispersal have remained elusive. Here we describe an archaeological assemblage from Chagyrskaya Cave, situated in the Altai foothills, where around 90,000 Middle Paleolithic artifacts and 74 Neanderthal remains have been recovered from deposits dating to between 59 and 49 thousand years ago (age range at 95.4% probability). Environmental reconstructions suggest that the Chagyrskaya hominins were adapted to the dry steppe and hunted bison. Their distinctive toolkit closely resembles Micoquian assemblages from central and eastern Europe, including the northern Caucasus, more than 3,000 kilometers to the west of Chagyrskaya Cave. At other Altai sites, evidence of earlier Neanderthal populations lacking associated Micoquian-like artifacts implies two or more Neanderthal incursions into this region. We identify eastern Europe as the most probable ancestral source region for the Chagyrskaya toolmakers, supported by DNA results linking the Neanderthal remains with populations in northern Croatia and the northern Caucasus, and providing a rare example of a long-distance, intercontinental population movement associated with a distinctive Paleolithic toolkit.}, }
@article {pmid31964606, year = {2020}, author = {Nelson, EA and Buikstra, JE and Herbig, A and Tung, TA and Bos, KI}, title = {Advances in the molecular detection of tuberculosis in pre-contact Andean South America.}, journal = {International journal of paleopathology}, volume = {29}, number = {}, pages = {128-140}, doi = {10.1016/j.ijpp.2019.12.006}, pmid = {31964606}, issn = {1879-9825}, mesh = {DNA, Bacterial/genetics/*history ; Diffusion of Innovation ; Forecasting ; High-Throughput Nucleotide Sequencing/trends ; History, Ancient ; Humans ; Metagenomics/trends ; *Mycobacterium tuberculosis/genetics ; *Paleopathology/trends ; *Research Design/trends ; Sequence Analysis, DNA/*trends ; South America ; Tuberculosis/genetics/*history/microbiology ; }, abstract = {Andean paleopathological research has significantly enhanced knowledge about the geographical distribution and evolution of tuberculosis (TB) in pre-Columbian South America. In this paper, we review the history and progress of research on ancient tuberculosis (TB) in the Andean region, focusing on the strengths and limitations of current approaches for the molecular detection of ancient pathogens, with special attention to TB. As a case study, we describe a molecular screening approach for the detection of ancient Mycobacterium tuberculosis in individuals from Late Intermediate Period (1000-1400 CE) contexts at the site of Huari, Peru. We evaluate 34 commingled human vertebrae and combine morphological assessments of pathology with high throughput sequencing and a non-selective approach to ancient pathogen DNA screening. Our method enabled the simultaneous detection of ancient M. tuberculosis DNA and an evaluation of the environmental microbial composition of each sample. Our results show that despite the dominance of environmental DNA, molecular signatures of M. tuberculosis were identified in eight vertebrae, six of which had no observable skeletal pathology classically associated tuberculosis infection. This screening approach will assist in the identification of candidate samples for downstream genomic analyses. The method permits higher resolution disease identification in cases where pathology may be absent, or where the archaeological context may necessitate a broad differential diagnosis based on morphology alone.}, }
@article {pmid31940807, year = {2020}, author = {Gabbianelli, F and Alhaique, F and Romagnoli, G and Brancazi, L and Piermartini, L and Ottoni, C and Valentini, A and Chillemi, G}, title = {Was the Cinta Senese Pig Already a Luxury Food in the Late Middle Ages? Ancient DNA and Archaeozoological Evidence from Central Italy.}, journal = {Genes}, volume = {11}, number = {1}, pages = {}, pmid = {31940807}, issn = {2073-4425}, mesh = {Animals ; *DNA, Ancient ; History, Medieval ; Italy ; *Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins c-kit/*genetics ; Swine/*genetics ; }, abstract = {The Cinta senese is a pig breed, highly esteemed for its meat and derived products, characterized by a black coat with a typical white "belt" and documented by scant iconography, since the 13[th]-14[th] century in Italy. A piece of pottery showing a Cinta pig was found in the Graffignano castle (Northern Latium, Italy) dated 15th-16th centuries, spurring us to investigate the diet of the inhabitants. Ancient DNA analysis was carried out on 21 pig specimens on three nuclear SNPs: (1) g.43597545C>T, on the KIT gene, informative for the identification of the Cinta senese breed; (2) rs81460129, on an intergenic region in chr. 16, which discriminates between domestic pigs and wild boars, and; (3) a SNP on the ZFY/ZFX homologous genes, to determine the sex of the individuals. Our results indicate that the Cinta senese was present in Northern Latium in Late Medieval time, although it was not the only breed, and that pigs, including Cinta, interbred with wild boars, suggesting free-range breeding for all types of pigs. Moreover, the unexpected high proportion of young females may be considered as evidence for the wealth of the family inhabiting the castle.}, }
@article {pmid31896562, year = {2020}, author = {Trenholm, S and Krishnaswamy, A}, title = {An Annotated Journey through Modern Visual Neuroscience.}, journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience}, volume = {40}, number = {1}, pages = {44-53}, pmid = {31896562}, issn = {1529-2401}, mesh = {Action Potentials ; Animals ; Brain Mapping ; Cerebral Cortex/physiology ; Connectome ; Form Perception/physiology ; Geniculate Bodies/physiology ; History, 20th Century ; History, 21st Century ; Humans ; Models, Neurological ; Motion Perception/physiology ; Neurosciences/*history ; Retina/cytology/physiology ; Sensory Receptor Cells/classification/physiology ; Space Perception/physiology ; Visual Cortex/physiology ; Visual Pathways/physiology ; Visual Perception/*physiology ; }, abstract = {Recent advances in microscopy, genetics, physiology, and data processing have expanded the scope and accelerated the pace of discovery in visual neuroscience. However, the pace of discovery and the ever increasing number of published articles can present a serious issue for both trainees and senior scientists alike: with each passing year the fog of progress thickens, making it easy to lose sight of important earlier advances. As part of this special issue of the Journal of Neuroscience commemorating the 50th anniversary of SfN, here, we provide a variation on Stephen Kuffler's Oldies but Goodies classic reading list, with the hope that by looking back at highlights in the field of visual neuroscience we can better define remaining gaps in our knowledge and thus guide future work. We also hope that this article can serve as a resource that will aid those new to the field to find their bearings.}, }
@article {pmid31893535, year = {2020}, author = {Du, ZY and Harris, AJ and Xiang, QJ}, title = {Phylogenomics, co-evolution of ecological niche and morphology, and historical biogeography of buckeyes, horsechestnuts, and their relatives (Hippocastaneae, Sapindaceae) and the value of RAD-Seq for deep evolutionary inferences back to the Late Cretaceous.}, journal = {Molecular phylogenetics and evolution}, volume = {145}, number = {}, pages = {106726}, doi = {10.1016/j.ympev.2019.106726}, pmid = {31893535}, issn = {1095-9513}, mesh = {Aesculus/*classification/genetics ; Bayes Theorem ; Biological Evolution ; Ecosystem ; Fossils/history ; History, Ancient ; Phylogeny ; Phylogeography ; RNA, Plant/*chemistry/classification/metabolism ; RNA-Seq ; }, abstract = {In this study, we used RAD-seq data to resolve the phylogeny of the tribe Hippocastaneae (Sapindaceae) and conducted comparative analyses to gain insights into the evolution and biogeography of the group that had fossils dating back to the late Cretaceous. Hippocastaneae, including the horsechestnuts and buckeyes, is a well-supported clade in Sapindaceae that comprises 12-14 species in Aesculus, two in Billia, and one in Handeliodendron. Most species in the tribe are distributed in Eurasia and North America and exhibit a classic pattern of intercontinental disjunction in the Northern Hemisphere, while Billia occurs from southern Mexico to northern South America. The earliest fossils of Aesculus date back to at least the earliest Paleocene of eastern Asia and western North America, where there are also putative occurrences from the latest Cretaceous. The group provides an excellent system for understanding floristic disjunction in the Northern Hemisphere extending to the Neotropics. However, a strongly supported and well resolved phylogeny is presently lacking for the tribe. Previous phylogenetic studies using several gene regions revealed five well-supported clades in Aesculus, largely corresponding to five recognized taxonomic sections, but relationships among these clades and among Aesculus, Billia, and Handeliodendron were not well supported. In this study, we used RAD-seq data from 68 samples representing all clades and species of Hippocastaneae except Billia, for which we used one of two species, to further resolve relationships within the tribe. Our phylogenomic analyses showed strong support for a sister relationship between Aesculus and Handeliodendron, in contrast to previous findings which supported Billia as sister to Aesculus. Within Aesculus, relationships among sections were strongly supported as (sect. Calothyrsus, (sect. Aesculus, (sect. Macrothyrsus, (sect. Parryana, sect. Pavia)))). We found that the traditionally recognized section Calothyrsus was monophyletic, with all eastern Asian species sister to the western North American species, A. californica. Analyses of divergence times combined with biogeographic analyses suggested a Late Cretaceous origin of Hippocastaneae, in eastern Asia, western North America, and Central America (including southern Mexico), followed by isolation of Billia in Central America, extinction of the tribe ancestor in western North America, and divergence of Aesculus from Handeliodendron in eastern Asia. A Late Cretaceous origin of the common ancestor of Aesculus in eastern Asia was followed by dispersals into western North America, Europe, and eastern North America during the Late Cretaceous and the Paleogene. Our results support Aesculus as a relic of the boreotropical flora and subsequent intercontinental spread of the genus through the Bering and North Atlantic land bridges. We performed character mapping analyses, which revealed that biogeographic isolation and niche divergence may have played important roles in driving morphological evolution and lineage divergence in Aesculus. Our study demonstrates the value of RAD-seq data for reconstructing phylogeny back to the Late Cretaceous.}, }
@article {pmid31889305, year = {2020}, author = {Gómez-Olivencia, A and López-Onaindia, D and Sala, N and Balzeau, A and Pantoja-Pérez, A and Arganda-Carreras, I and Arlegi, M and Rios-Garaizar, J and Gómez-Robles, A}, title = {The human remains from Axlor (Dima, Biscay, northern Iberian Peninsula).}, journal = {American journal of physical anthropology}, volume = {172}, number = {3}, pages = {475-491}, doi = {10.1002/ajpa.23989}, pmid = {31889305}, issn = {1096-8644}, mesh = {Adult ; Animals ; Anthropology, Physical ; Child ; *Fossils ; History, Ancient ; Humans ; Neanderthals ; Skull/*anatomy &amp; histology ; Spain ; Tooth/*anatomy &amp; histology ; }, abstract = {OBJECTIVES: We provide the description and comparative analysis of all the human fossil remains found at Axlor during the excavations carried out by J. M. de Barandiarán from 1967 to 1974: a cranial vault fragment and seven teeth, five of which likely belonged to the same individual, although two are currently lost. Our goal is to describe in detail all these human remains and discuss both their taxonomic attribution and their stratigraphic context.<br><br>MATERIALS AND METHODS: We describe external and internal anatomy, and use classic and geometric morphometrics. The teeth from Axlor are compared to Neandertals, Upper Paleolithic, and recent modern humans.<br><br>RESULTS: Two teeth (a left dm[2] , a left di[1]) and the parietal fragment show morphological features consistent with a Neandertal classification, and were found in an undisturbed Mousterian context. The remaining three teeth (plus the two lost ones), initially classified as Neandertals, show morphological features and a general size that are more compatible with their classification as modern humans.<br><br>DISCUSSION: A left parietal fragment (Level VIII) from a single probably adult Neandertal individual was recovered during the old excavations performed by Barandiar&#xe1;n. Additionally, two different Neandertal children lost deciduous teeth during the formations of levels V (left di[1]) and IV (right dm[2]). In addition, a modern human individual is represented by five remains (two currently lost) from a complex stratigraphic setting. Some of the morphological features of these remains suggest that they may represent one of the scarce examples of Upper Paleolithic modern human remains in the northern Iberian Peninsula, which should be confirmed by direct dating.}, }
@article {pmid31848463, year = {2020}, author = {Fairbanks, DJ}, title = {Mendel and Darwin: untangling a persistent enigma.}, journal = {Heredity}, volume = {124}, number = {2}, pages = {263-273}, pmid = {31848463}, issn = {1365-2540}, mesh = {*Biological Evolution ; Genetic Research/*history ; History, 19th Century ; Humans ; *Selection, Genetic ; }, abstract = {Mendel and Darwin were contemporaries, with much overlap in their scientifically productive years. Available evidence shows that Mendel knew much about Darwin, whereas Darwin knew nothing of Mendel. Because of the fragmentary nature of this evidence, published inferences regarding Mendel's views on Darwinian evolution are contradictory and enigmatic, with claims ranging from enthusiastic acceptance to outright rejection. The objective of this review is to examine evidence from Mendel's published and private writings on evolution and Darwin, and the influence of the scientific environment in which he was immersed. Much of this evidence lies in Mendel's handwritten annotations in his copies of Darwin's books, which this review scrutinises in detail. Darwin's writings directly influenced Mendel's classic 1866 paper, and his letters to Nägeli. He commended and criticised Darwin on specific issues pertinent to his research, including the provisional hypothesis of pangenesis, the role of pollen in fertilisation, and the influence of "conditions of life" on heritable variation. In his final letter to Nägeli, Mendel proposed a Darwinian scenario for natural selection using the same German term for "struggle for existence" as in his copies of Darwin's books. His published and private scientific writings are entirely objective, devoid of polemics or religious allusions, and address evolutionary questions in a manner consistent with that of his scientific contemporaries. The image that emerges of Mendel is of a meticulous scientist who accepted the tenets of Darwinian evolution, while privately pinpointing aspects of Darwin's views of inheritance that were not supported by Mendel's own experiments.}, }
@article {pmid31840773, year = {2019}, author = {Nanjundiah, V}, title = {Individual and collective behaviour in cellular slime mould development: contributions of John Bonner (1920-2019).}, journal = {The International journal of developmental biology}, volume = {63}, number = {8-9-10}, pages = {333-342}, doi = {10.1387/ijdb.190272vn}, pmid = {31840773}, issn = {1696-3547}, mesh = {Animals ; Biological Evolution ; Body Patterning ; Cell Biology/history ; Chemotaxis ; Developmental Biology/history ; Dictyostelium/*genetics/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; Models, Biological ; Selection, Genetic ; }, abstract = {John Bonner used the cellular slime moulds to address issues that lie at the heart of evolutionary and developmental biology. He did so mostly by combining acute observation and a knack for asking the right questions with the methods of classical embryology. The present paper focusses on his contributions to understanding two phenomena that are characteristic of development in general: chemotaxis of single cells to an external attractant, and spatial patterning and proportioning of cell types in the multicellular aggregate. Brief mention is also made of other areas of slime mould biology where he made significant inputs. He saw cellular slime moulds as exemplars of development and worthy of study in their own right. His ideas continue to inspire researchers.}, }
@article {pmid31718067, year = {2019}, author = {DiMauro, S}, title = {A Brief History of Mitochondrial Pathologies.}, journal = {International journal of molecular sciences}, volume = {20}, number = {22}, pages = {}, pmid = {31718067}, issn = {1422-0067}, mesh = {DNA, Mitochondrial/*genetics ; History, 20th Century ; History, 21st Century ; Humans ; Mitochondria/metabolism/*pathology ; Mitochondrial Diseases/genetics/*history/*pathology ; Mitochondrial Proteins/genetics/*metabolism ; *Mutation ; }, abstract = {The history of "mitochondrial pathologies", namely genetic pathologies affecting mitochondrial metabolism because of mutations in nuclear DNA-encoded genes for proteins active inside mitochondria or mutations in mitochondrial DNA-encoded genes, began in 1988. In that year, two different groups of researchers discovered, respectively, large-scale single deletions of mitochondrial DNA (mtDNA) in muscle biopsies from patients with "mitochondrial myopathies" and a point mutation in the mtDNA gene for subunit 4 of NADH dehydrogenase (MTND4), associated with maternally inherited Leber's hereditary optic neuropathy (LHON). Henceforth, a novel conceptual "mitochondrial genetics", separate from mendelian genetics, arose, based on three features of mtDNA: (1) polyplasmy; (2) maternal inheritance; and (3) mitotic segregation. Diagnosis of mtDNA-related diseases became possible through genetic analysis and experimental approaches involving histochemical staining of muscle or brain sections, single-fiber polymerase chain reaction (PCR) of mtDNA, and the creation of patient-derived "cybrid" (cytoplasmic hybrid) immortal fibroblast cell lines. The availability of the above-mentioned techniques along with the novel sensitivity of clinicians to such disorders led to the characterization of a constantly growing number of pathologies. Here is traced a brief historical perspective on the discovery of autonomous pathogenic mtDNA mutations and on the related mendelian pathology altering mtDNA integrity.}, }
@article {pmid31659490, year = {2019}, author = {Lowe, JWE and Bruce, A}, title = {Genetics without genes? The centrality of genetic markers in livestock genetics and genomics.}, journal = {History and philosophy of the life sciences}, volume = {41}, number = {4}, pages = {50}, doi = {10.1007/s40656-019-0290-x}, pmid = {31659490}, issn = {1742-6316}, support = {678757//H2020 European Research Council/ ; }, mesh = {Animal Husbandry/*history ; Animals ; *Genetic Markers ; Genetic Techniques/*history ; Genetics/*history ; Genomics/history/methods ; History, 20th Century ; Sus scrofa/*genetics ; }, abstract = {In this paper, rather than focusing on genes as an organising concept around which historical considerations of theory and practice in genetics are elucidated, we place genetic markers at the heart of our analysis. This reflects their central role in the subject of our account, livestock genetics concerning the domesticated pig, Sus scrofa. We define a genetic marker as a (usually material) element existing in different forms in the genome, that can be identified and mapped using a variety (and often combination) of quantitative, classical and molecular genetic techniques. The conjugation of pig genome researchers around the common object of the marker from the early-1990s allowed the distinctive theories and approaches of quantitative and molecular genetics concerning the size and distribution of gene effects to align (but never fully integrate) in projects to populate genome maps. Critical to this was the nature of markers as ontologically inert, internally heterogeneous and relational. Though genes as an organising and categorising principle remained important, the particular concatenation of limitations, opportunities, and intended research goals of the pig genetics community, meant that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. We therefore detail a different way of doing genetics to more gene-centred accounts. By doing so, we reveal the presence of practices, concepts and communities that would otherwise be hidden.}, }
@article {pmid31650470, year = {2019}, author = {Veuille, M}, title = {Chance, Variation and Shared Ancestry: Population Genetics After the Synthesis.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {537-567}, pmid = {31650470}, issn = {1573-0387}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Models, Biological ; *Selection, Genetic ; }, abstract = {Chance has been a focus of attention ever since the beginning of population genetics, but neutrality has not, as natural selection once appeared to be the only worthwhile issue. Neutral change became a major source of interest during the neutralist-selectionist debate, 1970-1980. It retained interest beyond this period for two reasons that contributed to its becoming foundational for evolutionary reasoning. On the one hand, neutral evolution was the first mathematical prediction to emerge from Mendelian inheritance: until then evolution by natural selection was considered the alternative to the fixity of species; now it appears to be the alternative to continuous change. Second, neutral change generated a set of clear predictions on standing variation. These could be used as a reference for detecting more elusive alternative mechanisms of evolution including natural selection. In the wake of the transition from Mendelism to genomics, the combination of coalescent theory, DNA sequence variation, and numerical analysis made it possible to integrate contingent aspects of the history of species into a new null model, thus opening a new dimension in the concept of population that the Modern Synthesis formerly considered as a mere gene pool.}, }
@article {pmid31594508, year = {2019}, author = {Malmström, H and Günther, T and Svensson, EM and Juras, A and Fraser, M and Munters, AR and Pospieszny, &#x141; and Tõrv, M and Lindström, J and Götherström, A and Storå, J and Jakobsson, M}, title = {The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon.}, journal = {Proceedings. Biological sciences}, volume = {286}, number = {1912}, pages = {20191528}, pmid = {31594508}, issn = {1471-2954}, mesh = {Baltic States ; Base Sequence ; *Culture ; DNA, Ancient ; Europe ; Farmers ; Genomics ; *History, Ancient ; *Human Migration ; Humans ; Poland ; Population Dynamics ; Scandinavian and Nordic Countries ; Sweden ; White People ; }, abstract = {The Neolithic period is characterized by major cultural transformations and human migrations, with lasting effects across Europe. To understand the population dynamics in Neolithic Scandinavia and the Baltic Sea area, we investigate the genomes of individuals associated with the Battle Axe Culture (BAC), a Middle Neolithic complex in Scandinavia resembling the continental Corded Ware Culture (CWC). We sequenced 11 individuals (dated to 3330-1665 calibrated before common era (cal BCE)) from modern-day Sweden, Estonia, and Poland to 0.26-3.24× coverage. Three of the individuals were from CWC contexts and two from the central-Swedish BAC burial 'Bergsgraven'. By analysing these genomes together with the previously published data, we show that the BAC represents a group different from other Neolithic populations in Scandinavia, revealing stratification among cultural groups. Similar to continental CWC, the BAC-associated individuals display ancestry from the Pontic-Caspian steppe herders, as well as smaller components originating from hunter-gatherers and Early Neolithic farmers. Thus, the steppe ancestry seen in these Scandinavian BAC individuals can be explained only by migration into Scandinavia. Furthermore, we highlight the reuse of megalithic tombs of the earlier Funnel Beaker Culture (FBC) by people related to BAC. The BAC groups likely mixed with resident middle Neolithic farmers (e.g. FBC) without substantial contributions from Neolithic foragers.}, }
@article {pmid31576991, year = {2019}, author = {Löwy, I}, title = {How diseases became "genetic".}, journal = {Ciencia &amp; saude coletiva}, volume = {24}, number = {10}, pages = {3607-3617}, doi = {10.1590/1413-812320182410.19102019}, pmid = {31576991}, issn = {1678-4561}, mesh = {Genetic Diseases, Inborn/*genetics/history ; Genetic Predisposition to Disease/*genetics/history ; Genetic Testing/history/*methods ; Genomics/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {This article examines the origins of the term "genetic disease." In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar "predisposition" was replaced by the view that such diseases have specific causes, while Mendelian genetics provided then clues to the patterns of their transmission. The genetictisation of inborn pathologies took a decisive turn with the redefinition, in 1959, of Down syndrome as a chromosomal anomaly, then the development of tests for the diagnosis of other hereditary pathologies. At that time, geneticists distinguished "hereditary" diseases that run in families, from "genetic" conditions that are the result of new mutations during the production of egg and sperm cells. In the latter case, the inborn impairment is produced by an anomaly in the genetic material of the cell, but is not hereditary, because it is not transmitted from one or both parents. In the late 20th and early 21st century, new genomic technologies blurred the distinction between hereditary and genetic impairments, extended the concept of genetic disease, and modified the experience of people living with such a disease.}, }
@article {pmid31511700, year = {2019}, author = {Cappellini, E and Welker, F and Pandolfi, L and Ramos-Madrigal, J and Samodova, D and Rüther, PL and Fotakis, AK and Lyon, D and Moreno-Mayar, JV and Bukhsianidze, M and Rakownikow Jersie-Christensen, R and Mackie, M and Ginolhac, A and Ferring, R and Tappen, M and Palkopoulou, E and Dickinson, MR and Stafford, TW and Chan, YL and Götherström, A and Nathan, SKSS and Heintzman, PD and Kapp, JD and Kirillova, I and Moodley, Y and Agusti, J and Kahlke, RD and Kiladze, G and Martínez-Navarro, B and Liu, S and Sandoval Velasco, M and Sinding, MS and Kelstrup, CD and Allentoft, ME and Orlando, L and Penkman, K and Shapiro, B and Rook, L and Dalén, L and Gilbert, MTP and Olsen, JV and Lordkipanidze, D and Willerslev, E}, title = {Early Pleistocene enamel proteome from Dmanisi resolves Stephanorhinus phylogeny.}, journal = {Nature}, volume = {574}, number = {7776}, pages = {103-107}, pmid = {31511700}, issn = {1476-4687}, support = {//Wellcome Trust/United Kingdom ; 681396/ERC_/European Research Council/International ; 681605/ERC_/European Research Council/International ; }, mesh = {Amino Acid Motifs ; Amino Acid Sequence ; Animals ; Bayes Theorem ; DNA, Ancient/*analysis ; Dental Enamel/*metabolism ; *Fossils ; History, Ancient ; Humans ; Male ; Perissodactyla/*classification/*genetics/metabolism ; Phosphorylation/genetics ; *Phylogeny ; Proteome/analysis/*genetics ; *Proteomics ; }, abstract = {The sequencing of ancient DNA has enabled the reconstruction of speciation, migration and admixture events for extinct taxa[1]. However, the irreversible post-mortem degradation[2] of ancient DNA has so far limited its recovery-outside permafrost areas-to specimens that are not older than approximately 0.5 million years (Myr)[3]. By contrast, tandem mass spectrometry has enabled the sequencing of approximately 1.5-Myr-old collagen type I[4], and suggested the presence of protein residues in fossils of the Cretaceous period[5]-although with limited phylogenetic use[6]. In the absence of molecular evidence, the speciation of several extinct species of the Early and Middle Pleistocene epoch remains contentious. Here we address the phylogenetic relationships of the Eurasian Rhinocerotidae of the Pleistocene epoch[7-9], using the proteome of dental enamel from a Stephanorhinus tooth that is approximately 1.77-Myr old, recovered from the archaeological site of Dmanisi (South Caucasus, Georgia)[10]. Molecular phylogenetic analyses place this Stephanorhinus as a sister group to the clade formed by the woolly rhinoceros (Coelodonta antiquitatis) and Merck's rhinoceros (Stephanorhinus kirchbergensis). We show that Coelodonta evolved from an early Stephanorhinus lineage, and that this latter genus includes at least two distinct evolutionary lines. The genus Stephanorhinus is therefore currently paraphyletic, and its systematic revision is needed. We demonstrate that sequencing the proteome of Early Pleistocene dental enamel overcomes the limitations of phylogenetic inference based on ancient collagen or DNA. Our approach also provides additional information about the sex and taxonomic assignment of other specimens from Dmanisi. Our findings reveal that proteomic investigation of ancient dental enamel-which is the hardest tissue in vertebrates[11], and is highly abundant in the fossil record-can push the reconstruction of molecular evolution further back into the Early Pleistocene epoch, beyond the currently known limits of ancient DNA preservation.}, }
@article {pmid31501337, year = {2019}, author = {Geber, J and Tromp, M and Scott, A and Bouwman, A and Nanni, P and Grossmann, J and Hendy, J and Warinner, C}, title = {Relief food subsistence revealed by microparticle and proteomic analyses of dental calculus from victims of the Great Irish Famine.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {39}, pages = {19380-19385}, pmid = {31501337}, issn = {1091-6490}, support = {/WT_/Wellcome Trust/United Kingdom ; 096435/Z/11/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Adolescent ; Adult ; Dental Calculus/*chemistry/history ; Diet/*history ; Dietary Carbohydrates/analysis/history ; Dietary Proteins/analysis/history ; Famine/*history ; Female ; Fossils ; History, 19th Century ; Humans ; Ireland/epidemiology ; Male ; Middle Aged ; Poverty/*history ; Proteomics ; Young Adult ; }, abstract = {Food and diet were class markers in 19th-century Ireland, which became evident as nearly 1 million people, primarily the poor and destitute, died as a consequence of the notorious Great Famine of 1845 to 1852. Famine took hold after a blight (Phytophthora infestans) destroyed virtually the only means of subsistence-the potato crop-for a significant proportion of the population. This study seeks to elucidate the variability of diet in mid-19th-century Ireland through microparticle and proteomic analysis of human dental calculus samples (n = 42) from victims of the famine. The samples derive from remains of people who died between August 1847 and March 1851 while receiving poor relief as inmates in the union workhouse in the city of Kilkenny (52°39' N, -7°15' W). The results corroborate the historical accounts of food provisions before and during the famine, with evidence of corn (maize), potato, and cereal starch granules from the microparticle analysis and milk protein from the proteomic analysis. Unexpectedly, there is also evidence of egg protein-a food source generally reserved only for export and the better-off social classes-which highlights the variability of the prefamine experience for those who died. Through historical contextualization, this study shows how the notoriously monotonous potato diet of the poor was opportunistically supplemented by other foodstuffs. While the Great Irish Famine was one of the worst subsistence crises in history, it was foremost a social disaster induced by the lack of access to food and not the lack of food availability.}, }
@article {pmid31470964, year = {2019}, author = {Duboule, D}, title = {Commentary on paper by Leroy C.}, journal = {Developmental biology}, volume = {454}, number = {1}, pages = {1-14}, doi = {10.1016/j.ydbio.2019.07.016}, pmid = {31470964}, issn = {1095-564X}, mesh = {Animals ; Developmental Biology/*history/*methods ; Embryoid Bodies/*pathology ; History, 20th Century ; Humans ; Male ; Mice ; Teratoma/pathology ; Testicular Neoplasms/pathology ; }, }
@article {pmid31442669, year = {2019}, author = {Buś, MM and Lembring, M and Kjellström, A and Strobl, C and Zimmermann, B and Parson, W and Allen, M}, title = {Mitochondrial DNA analysis of a Viking age mass grave in Sweden.}, journal = {Forensic science international. Genetics}, volume = {42}, number = {}, pages = {268-274}, doi = {10.1016/j.fsigen.2019.06.002}, pmid = {31442669}, issn = {1878-0326}, mesh = {Adolescent ; Adult ; *Body Remains ; Bone and Bones/chemistry ; *Burial ; Child ; *DNA Fingerprinting ; DNA, Mitochondrial/*genetics ; Female ; Genome, Human ; Haplotypes ; High-Throughput Nucleotide Sequencing ; History, Medieval ; Humans ; Male ; Middle Aged ; Sequence Analysis, DNA ; Sweden ; Tooth/chemistry ; Young Adult ; }, abstract = {In 1998, a Viking Age mass grave was discovered and excavated at St. Laurence´s churchyard in Sigtuna, Sweden. The excavated bones underwent osteoarchaeological analysis and were assigned to at least 19 individuals. Eleven skeletons showed sharp force trauma from bladed weapons. Mass graves are an unusual finding from this time period, making the burial context extraordinary. To investigate a possible maternal kinship among the individuals, bones and teeth from the skeletal remains were selected for mitochondrial DNA (mtDNA) analysis. Sanger sequencing of short stretches of the hypervariable segments I and II (HVS-I and HVS-II) was performed. A subset of the samples was also analysed by massively parallel sequencing analysis (MPS) of the entire mtDNA genome using the Precision ID mtDNA Whole Genome Panel. A total of 15 unique and three shared mtDNA profiles were obtained. Based on a combination of genetic and archaeological data, we conclude that a minimum of 20 individuals was buried in the mass grave. The majority of the individuals were not maternally related. However, two possible pairs of siblings or mother-child relationships were identified. All individuals were assigned to West Eurasian haplogroups, with a predominance of haplogroup H. Although the remains showed an advanced level of DNA degradation, the combined use of Sanger sequencing and MPS with the Precision ID mtDNA Whole Genome Panel revealed at least partial mtDNA data for all samples.}, }
@article {pmid31405970, year = {2019}, author = {Frantz, LAF and Haile, J and Lin, AT and Scheu, A and Geörg, C and Benecke, N and Alexander, M and Linderholm, A and Mullin, VE and Daly, KG and Battista, VM and Price, M and Gron, KJ and Alexandri, P and Arbogast, RM and Arbuckle, B and Bӑlӑşescu, A and Barnett, R and Bartosiewicz, L and Baryshnikov, G and Bonsall, C and Borić, D and Boroneanţ, A and Bulatović, J and Çakirlar, C and Carretero, JM and Chapman, J and Church, M and Crooijmans, R and De Cupere, B and Detry, C and Dimitrijevic, V and Dumitraşcu, V and du Plessis, L and Edwards, CJ and Erek, CM and Erim-Özdoğan, A and Ervynck, A and Fulgione, D and Gligor, M and Götherström, A and Gourichon, L and Groenen, MAM and Helmer, D and Hongo, H and Horwitz, LK and Irving-Pease, EK and Lebrasseur, O and Lesur, J and Malone, C and Manaseryan, N and Marciniak, A and Martlew, H and Mashkour, M and Matthews, R and Matuzeviciute, GM and Maziar, S and Meijaard, E and McGovern, T and Megens, HJ and Miller, R and Mohaseb, AF and Orschiedt, J and Orton, D and Papathanasiou, A and Pearson, MP and Pinhasi, R and Radmanović, D and Ricaut, FX and Richards, M and Sabin, R and Sarti, L and Schier, W and Sheikhi, S and Stephan, E and Stewart, JR and Stoddart, S and Tagliacozzo, A and Tasić, N and Trantalidou, K and Tresset, A and Valdiosera, C and van den Hurk, Y and Van Poucke, S and Vigne, JD and Yanevich, A and Zeeb-Lanz, A and Triantafyllidis, A and Gilbert, MTP and Schibler, J and Rowley-Conwy, P and Zeder, M and Peters, J and Cucchi, T and Bradley, DG and Dobney, K and Burger, J and Evin, A and Girdland-Flink, L and Larson, G}, title = {Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {35}, pages = {17231-17238}, pmid = {31405970}, issn = {1091-6490}, support = {/WT_/Wellcome Trust/United Kingdom ; 210119/Z/18/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Animals ; *DNA, Ancient ; DNA, Mitochondrial/*genetics ; *Domestication ; Europe ; *Gene Flow ; History, Ancient ; Middle East ; *Phylogeny ; Skin Pigmentation/genetics ; Swine/*genetics ; }, abstract = {Archaeological evidence indicates that pig domestication had begun by ∼10,500 y before the present (BP) in the Near East, and mitochondrial DNA (mtDNA) suggests that pigs arrived in Europe alongside farmers ∼8,500 y BP. A few thousand years after the introduction of Near Eastern pigs into Europe, however, their characteristic mtDNA signature disappeared and was replaced by haplotypes associated with European wild boars. This turnover could be accounted for by substantial gene flow from local European wild boars, although it is also possible that European wild boars were domesticated independently without any genetic contribution from the Near East. To test these hypotheses, we obtained mtDNA sequences from 2,099 modern and ancient pig samples and 63 nuclear ancient genomes from Near Eastern and European pigs. Our analyses revealed that European domestic pigs dating from 7,100 to 6,000 y BP possessed both Near Eastern and European nuclear ancestry, while later pigs possessed no more than 4% Near Eastern ancestry, indicating that gene flow from European wild boars resulted in a near-complete disappearance of Near East ancestry. In addition, we demonstrate that a variant at a locus encoding black coat color likely originated in the Near East and persisted in European pigs. Altogether, our results indicate that while pigs were not independently domesticated in Europe, the vast majority of human-mediated selection over the past 5,000 y focused on the genomic fraction derived from the European wild boars, and not on the fraction that was selected by early Neolithic farmers over the first 2,500 y of the domestication process.}, }
@article {pmid31330138, year = {2019}, author = {Wirtz, J and Wiehe, T}, title = {The Evolving Moran Genealogy.}, journal = {Theoretical population biology}, volume = {130}, number = {}, pages = {94-105}, doi = {10.1016/j.tpb.2019.07.005}, pmid = {31330138}, issn = {1096-0325}, mesh = {*Biological Evolution ; *Genealogy and Heraldry ; *Genetics, Population ; Markov Chains ; Models, Genetic ; }, abstract = {We study the evolution of the population genealogy in the classic neutral Moran Model of finite size n∈N and in discrete time. The stochastic transformations that shape a Moran population can be realized directly on its genealogy and give rise to a process on a state space consisting of n-sized binary increasing trees. We derive a number of properties of this process, and show that they are in agreement with existing results on the infinite-population limit of the Moran Model. Most importantly, this process admits time reversal, which makes it possible to simplify the mechanisms determining state changes, and allows for a thorough investigation of the Most Recent Common Ancestorprocess.}, }
@article {pmid31189901, year = {2019}, author = {Hurst, LD}, title = {A century of bias in genetics and evolution.}, journal = {Heredity}, volume = {123}, number = {1}, pages = {33-43}, pmid = {31189901}, issn = {1365-2540}, support = {ERC-2014-ADG 669207//EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013))/International ; }, mesh = {Alleles ; Animals ; *Biological Evolution ; Eukaryotic Cells ; Gene Conversion ; Genetic Fitness ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Mammals/genetics ; Models, Genetic ; *Selection, Genetic ; }, abstract = {Mendel proposed that the heritable material is particulate and that transmission of alleles is unbiased. An assumption of unbiased transmission was necessary to show how variation can be preserved in the absence of selection, so overturning an early objection to Darwinism. In the second half of the twentieth century, it was widely recognised that even strongly deleterious alleles can invade if they have strongly biased transmission (i.e. strong segregation distortion). The spread of alleles with distorted segregation can explain many curiosities. More recently, the selectionist-neutralist duopoly was broken by the realisation that biased gene conversion can explain phenomena such as mammalian isochore structures. An initial focus on unbiased transmission in 1919, has thus given way to an interest in biased transmission in 2019. A focus on very weak bias is now possible owing to technological advances, although technical biases may put a limit on resolving power. To understand the relevance of weak bias we could profit from having the concept of the effectively Mendelian allele, a companion to the effectively neutral allele. Understanding the implications of unbiased and biased transmission may, I suggest, be a good way to teach evolution so as to avoid psychological biases.}, }
@article {pmid31168094, year = {2019}, author = {Flegontov, P and Altınışık, NE and Changmai, P and Rohland, N and Mallick, S and Adamski, N and Bolnick, DA and Broomandkhoshbacht, N and Candilio, F and Culleton, BJ and Flegontova, O and Friesen, TM and Jeong, C and Harper, TK and Keating, D and Kennett, DJ and Kim, AM and Lamnidis, TC and Lawson, AM and Olalde, I and Oppenheimer, J and Potter, BA and Raff, J and Sattler, RA and Skoglund, P and Stewardson, K and Vajda, EJ and Vasilyev, S and Veselovskaya, E and Hayes, MG and O'Rourke, DH and Krause, J and Pinhasi, R and Reich, D and Schiffels, S}, title = {Palaeo-Eskimo genetic ancestry and the peopling of Chukotka and North America.}, journal = {Nature}, volume = {570}, number = {7760}, pages = {236-240}, pmid = {31168094}, issn = {1476-4687}, support = {//Wellcome Trust/United Kingdom ; /HHMI_/Howard Hughes Medical Institute/United States ; R01 GM100233/GM/NIGMS NIH HHS/United States ; }, mesh = {Africa ; Alaska ; Alleles ; Arctic Regions ; Asia, Southeastern ; Canada ; Europe ; Genome, Human/genetics ; Haplotypes ; History, Ancient ; Human Migration/*history ; Humans ; Inuit/*classification/*genetics ; *Phylogeny ; *Phylogeography ; Principal Component Analysis ; Siberia/ethnology ; }, abstract = {Much of the American Arctic was first settled 5,000 years ago, by groups of people known as Palaeo-Eskimos. They were subsequently joined and largely displaced around 1,000 years ago by ancestors of the present-day Inuit and Yup'ik[1-3]. The genetic relationship between Palaeo-Eskimos and Native American, Inuit, Yup'ik and Aleut populations remains uncertain[4-6]. Here we present genomic data for 48 ancient individuals from Chukotka, East Siberia, the Aleutian Islands, Alaska, and the Canadian Arctic. We co-analyse these data with data from present-day Alaskan Iñupiat and West Siberian populations and published genomes. Using methods based on rare-allele and haplotype sharing, as well as established techniques[4,7-9], we show that Palaeo-Eskimo-related ancestry is ubiquitous among people who speak Na-Dene and Eskimo-Aleut languages. We develop a comprehensive model for the Holocene peopling events of Chukotka and North America, and show that Na-Dene-speaking peoples, people of the Aleutian Islands, and Yup'ik and Inuit across the Arctic region all share ancestry from a single Palaeo-Eskimo-related Siberian source.}, }
@article {pmid31123709, year = {2019}, author = {Kashuba, N and Kırdök, E and Damlien, H and Manninen, MA and Nordqvist, B and Persson, P and Götherström, A}, title = {Ancient DNA from mastics solidifies connection between material culture and genetics of mesolithic hunter-gatherers in Scandinavia.}, journal = {Communications biology}, volume = {2}, number = {}, pages = {185}, pmid = {31123709}, issn = {2399-3642}, mesh = {Anthropology, Cultural/history ; Betula/chemistry ; Chewing Gum/history ; DNA, Ancient/*isolation &amp; purification ; DNA, Mitochondrial/genetics/history ; Genetics, Population/history ; History, Ancient ; Human Migration/history ; Humans ; Mastic Resin/history ; Resins, Plant/history ; Scandinavian and Nordic Countries ; }, abstract = {Human demography research in grounded on the information derived from ancient DNA and archaeology. For example, the study on the early postglacial dual-route colonisation of the Scandinavian Peninsula is largely based on associating genomic data with the early dispersal of lithic technology from the East European Plain. However, a clear connection between material culture and genetics has been lacking. Here, we demonstrate that direct connection by analysing human DNA from chewed birch bark pitch mastics. These samples were discovered at Huseby Klev in western Sweden, a Mesolithic site with eastern lithic technology. We generated genome-wide data for three individuals, and show their affinity to the Scandinavian hunter-gatherers. Our samples date to 9880-9540 calBP, expanding the temporal range and distribution of the early Scandinavian genetic group. We propose that DNA from ancient mastics can be used to study environment and ecology of prehistoric populations.}, }
@article {pmid31080083, year = {2019}, author = {Saag, L and Laneman, M and Varul, L and Malve, M and Valk, H and Razzak, MA and Shirobokov, IG and Khartanovich, VI and Mikhaylova, ER and Kushniarevich, A and Scheib, CL and Solnik, A and Reisberg, T and Parik, J and Saag, L and Metspalu, E and Rootsi, S and Montinaro, F and Remm, M and Mägi, R and D'Atanasio, E and Crema, ER and Díez-Del-Molino, D and Thomas, MG and Kriiska, A and Kivisild, T and Villems, R and Lang, V and Metspalu, M and Tambets, K}, title = {The Arrival of Siberian Ancestry Connecting the Eastern Baltic to Uralic Speakers further East.}, journal = {Current biology : CB}, volume = {29}, number = {10}, pages = {1701-1711.e16}, pmid = {31080083}, issn = {1879-0445}, support = {261213/ERC_/European Research Council/International ; 100719/Z/12/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Archaeology ; DNA, Ancient/*analysis ; Estonia ; Female ; *Gene Flow ; History, Ancient ; History, Medieval ; *Human Migration ; Humans ; Male ; *Phenotype ; }, abstract = {In this study, we compare the genetic ancestry of individuals from two as yet genetically unstudied cultural traditions in Estonia in the context of available modern and ancient datasets: 15 from the Late Bronze Age stone-cist graves (1200-400 BC) (EstBA) and 6 from the Pre-Roman Iron Age tarand cemeteries (800/500 BC-50 AD) (EstIA). We also included 5 Pre-Roman to Roman Iron Age Ingrian (500 BC-450 AD) (IngIA) and 7 Middle Age Estonian (1200-1600 AD) (EstMA) individuals to build a dataset for studying the demographic history of the northern parts of the Eastern Baltic from the earliest layer of Mesolithic to modern times. Our findings are consistent with EstBA receiving gene flow from regions with strong Western hunter-gatherer (WHG) affinities and EstIA from populations related to modern Siberians. The latter inference is in accordance with Y chromosome (chrY) distributions in present day populations of the Eastern Baltic, as well as patterns of autosomal variation in the majority of the westernmost Uralic speakers [1-5]. This ancestry reached the coasts of the Baltic Sea no later than the mid-first millennium BC; i.e., in the same time window as the diversification of west Uralic (Finnic) languages [6]. Furthermore, phenotypic traits often associated with modern Northern Europeans, like light eyes, hair, and skin, as well as lactose tolerance, can be traced back to the Bronze Age in the Eastern Baltic. VIDEO ABSTRACT.}, }
@article {pmid31056281, year = {2019}, author = {Fages, A and Hanghøj, K and Khan, N and Gaunitz, C and Seguin-Orlando, A and Leonardi, M and McCrory Constantz, C and Gamba, C and Al-Rasheid, KAS and Albizuri, S and Alfarhan, AH and Allentoft, M and Alquraishi, S and Anthony, D and Baimukhanov, N and Barrett, JH and Bayarsaikhan, J and Benecke, N and Bernáldez-Sánchez, E and Berrocal-Rangel, L and Biglari, F and Boessenkool, S and Boldgiv, B and Brem, G and Brown, D and Burger, J and Crubézy, E and Daugnora, L and Davoudi, H and de Barros Damgaard, P and de Los Ángeles de Chorro Y de Villa-Ceballos, M and Deschler-Erb, S and Detry, C and Dill, N and do Mar Oom, M and Dohr, A and Ellingvåg, S and Erdenebaatar, D and Fathi, H and Felkel, S and Fernández-Rodríguez, C and García-Viñas, E and Germonpré, M and Granado, JD and Hallsson, JH and Hemmer, H and Hofreiter, M and Kasparov, A and Khasanov, M and Khazaeli, R and Kosintsev, P and Kristiansen, K and Kubatbek, T and Kuderna, L and Kuznetsov, P and Laleh, H and Leonard, JA and Lhuillier, J and Liesau von Lettow-Vorbeck, C and Logvin, A and Lõugas, L and Ludwig, A and Luis, C and Arruda, AM and Marques-Bonet, T and Matoso Silva, R and Merz, V and Mijiddorj, E and Miller, BK and Monchalov, O and Mohaseb, FA and Morales, A and Nieto-Espinet, A and Nistelberger, H and Onar, V and Pálsdóttir, AH and Pitulko, V and Pitskhelauri, K and Pruvost, M and Rajic Sikanjic, P and Rapan Papeša, A and Roslyakova, N and Sardari, A and Sauer, E and Schafberg, R and Scheu, A and Schibler, J and Schlumbaum, A and Serrand, N and Serres-Armero, A and Shapiro, B and Sheikhi Seno, S and Shevnina, I and Shidrang, S and Southon, J and Star, B and Sykes, N and Taheri, K and Taylor, W and Teegen, WR and Trbojević Vukičević, T and Trixl, S and Tumen, D and Undrakhbold, S and Usmanova, E and Vahdati, A and Valenzuela-Lamas, S and Viegas, C and Wallner, B and Weinstock, J and Zaibert, V and Clavel, B and Lepetz, S and Mashkour, M and Helgason, A and Stefánsson, K and Barrey, E and Willerslev, E and Outram, AK and Librado, P and Orlando, L}, title = {Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.}, journal = {Cell}, volume = {177}, number = {6}, pages = {1419-1435.e31}, pmid = {31056281}, issn = {1097-4172}, support = {681605/ERC_/European Research Council/International ; U01 MH106874/MH/NIMH NIH HHS/United States ; W 1225/FWF_/Austrian Science Fund FWF/Austria ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Animals ; Asia ; Biological Evolution ; Breeding/history ; DNA, Ancient/analysis ; Domestication ; Equidae/genetics ; Europe ; Female ; Genetic Variation/genetics ; Genome/genetics ; History, Ancient ; Horses/*genetics ; Male ; Phylogeny ; }, abstract = {Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (≥1-fold coverage), 87 of which are new. This extensive dataset allows us to assess the modern legacy of past equestrian civilizations. We find that two extinct horse lineages existed during early domestication, one at the far western (Iberia) and the other at the far eastern range (Siberia) of Eurasia. None of these contributed significantly to modern diversity. We show that the influence of Persian-related horse lineages increased following the Islamic conquests in Europe and Asia. Multiple alleles associated with elite-racing, including at the MSTN "speed gene," only rose in popularity within the last millennium. Finally, the development of modern breeding impacted genetic diversity more dramatically than the previous millennia of human management.}, }
@article {pmid30988179, year = {2019}, author = {Sánchez-Quinto, F and Malmström, H and Fraser, M and Girdland-Flink, L and Svensson, EM and Simões, LG and George, R and Hollfelder, N and Burenhult, G and Noble, G and Britton, K and Talamo, S and Curtis, N and Brzobohata, H and Sumberova, R and Götherström, A and Storå, J and Jakobsson, M}, title = {Megalithic tombs in western and northern Neolithic Europe were linked to a kindred society.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {19}, pages = {9469-9474}, pmid = {30988179}, issn = {1091-6490}, mesh = {Agriculture/history ; *Archaeology ; Burial ; Chromosomes, Human, Y/*genetics ; Female ; *Genome, Human ; *Haplotypes ; History, Ancient ; Humans ; Male ; United Kingdom ; }, abstract = {Paleogenomic and archaeological studies show that Neolithic lifeways spread from the Fertile Crescent into Europe around 9000 BCE, reaching northwestern Europe by 4000 BCE. Starting around 4500 BCE, a new phenomenon of constructing megalithic monuments, particularly for funerary practices, emerged along the Atlantic façade. While it has been suggested that the emergence of megaliths was associated with the territories of farming communities, the origin and social structure of the groups that erected them has remained largely unknown. We generated genome sequence data from human remains, corresponding to 24 individuals from five megalithic burial sites, encompassing the widespread tradition of megalithic construction in northern and western Europe, and analyzed our results in relation to the existing European paleogenomic data. The various individuals buried in megaliths show genetic affinities with local farming groups within their different chronological contexts. Individuals buried in megaliths display (past) admixture with local hunter-gatherers, similar to that seen in other Neolithic individuals in Europe. In relation to the tomb populations, we find significantly more males than females buried in the megaliths of the British Isles. The genetic data show close kin relationships among the individuals buried within the megaliths, and for the Irish megaliths, we found a kin relation between individuals buried in different megaliths. We also see paternal continuity through time, including the same Y-chromosome haplotypes reoccurring. These observations suggest that the investigated funerary monuments were associated with patrilineal kindred groups. Our genomic investigation provides insight into the people associated with this long-standing megalith funerary tradition, including their social dynamics.}, }
@article {pmid30967441, year = {2019}, author = {Visscher, PM and Goddard, ME}, title = {From R.A. Fisher's 1918 Paper to GWAS a Century Later.}, journal = {Genetics}, volume = {211}, number = {4}, pages = {1125-1130}, pmid = {30967441}, issn = {1943-2631}, mesh = {Animals ; Genetics/*history ; Genome-Wide Association Study/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.}, }
@article {pmid30890703, year = {2019}, author = {Feldman, M and Fernández-Domínguez, E and Reynolds, L and Baird, D and Pearson, J and Hershkovitz, I and May, H and Goring-Morris, N and Benz, M and Gresky, J and Bianco, RA and Fairbairn, A and Mustafaoğlu, G and Stockhammer, PW and Posth, C and Haak, W and Jeong, C and Krause, J}, title = {Late Pleistocene human genome suggests a local origin for the first farmers of central Anatolia.}, journal = {Nature communications}, volume = {10}, number = {1}, pages = {1218}, pmid = {30890703}, issn = {2041-1723}, mesh = {Adult ; Agriculture/*history ; Archaeology ; Bone and Bones ; DNA, Ancient/*analysis/isolation &amp; purification ; Europe ; Farmers/*history ; Female ; Genome, Human/*genetics ; High-Throughput Nucleotide Sequencing ; History, Ancient ; Human Migration/*history ; Humans ; Iran ; Male ; Radiometric Dating ; }, abstract = {Anatolia was home to some of the earliest farming communities. It has been long debated whether a migration of farming groups introduced agriculture to central Anatolia. Here, we report the first genome-wide data from a 15,000-year-old Anatolian hunter-gatherer and from seven Anatolian and Levantine early farmers. We find high genetic continuity (~80-90%) between the hunter-gatherers and early farmers of Anatolia and detect two distinct incoming ancestries: an early Iranian/Caucasus related one and a later one linked to the ancient Levant. Finally, we observe a genetic link between southern Europe and the Near East predating 15,000 years ago. Our results suggest a limited role of human migration in the emergence of agriculture in central Anatolia.}, }
@article {pmid30870139, year = {2019}, author = {Postel, A and Nishi, T and Kameyama, KI and Meyer, D and Suckstorff, O and Fukai, K and Becher, P}, title = {Reemergence of Classical Swine Fever, Japan, 2018.}, journal = {Emerging infectious diseases}, volume = {25}, number = {6}, pages = {1228-1231}, pmid = {30870139}, issn = {1080-6059}, mesh = {Animals ; Classical Swine Fever/*epidemiology/history/*virology ; *Classical Swine Fever Virus/classification/genetics/isolation &amp; purification ; Genes, Viral ; History, 21st Century ; Japan/epidemiology ; Phylogeny ; Public Health Surveillance ; RNA, Viral ; Swine ; }, abstract = {In September 2018, classical swine fever reemerged in Japan after 26 years, affecting domestic pigs and wild boars. The causative virus belongs to the 2.1 subgenotype, which caused repeated outbreaks in eastern and Southeast Asia. Intensive surveillance of swine and vaccination of wild boars will help control and eradicate this disease in Japan.}, }
@article {pmid30868212, year = {2020}, author = {Dudás, E and Susa, &#xc9; and Pamjav, H and Szabolcsi, Z}, title = {Identification of World War II bone remains found in Ukraine using classical anthropological and mitochondrial DNA results.}, journal = {International journal of legal medicine}, volume = {134}, number = {2}, pages = {487-489}, pmid = {30868212}, issn = {1437-1596}, mesh = {Adult ; *Body Remains ; *Bone and Bones ; DNA, Mitochondrial/*analysis ; Forensic Anthropology/*methods ; Haplotypes ; History, 20th Century ; Humans ; Hungary ; Locus Control Region ; Male ; *Sequence Analysis, DNA ; Ukraine ; World War II ; }, abstract = {Gyula Ágner was a Royal Hungarian First Lieutenant (1st Lt.) during the World War II and died at 30 years old due to a mine shrapnel injury on 27 April 1944 in Luczky, Ukraine. In October 2014, the Hungarian Ministry of Defence exhumated the remains then transported them to Budapest in Hungary. Classical anthropological methods were used to determine morphological gender, height and age at death; furthermore, metrical and pathological characters were also analysed. Determination of maternal lineage was the only solution to examine the possible relationship of the bone fragments. Gyula Ágner did not have direct descendants, thus the living niece of the deceased (his sister's daughter) served as the reference person during the investigations. Hypervariable regions of the mtDNA control region (HV1, HV2 and HV3) were amplified by Qiagen® Multiplex PCR Kit in different monoplex reactions. The results of the anthropological and genetical analysis supported the hypothesis that the bone remains belong to Gyula Ágner.}, }
@article {pmid30782850, year = {2019}, author = {Shinkai, Y and Koyasu, S and Nakayama, KI and Murphy, KM and Loh, DY and Reinherz, EL and Alt, FW}, title = {Pillars Article: Restoration of T Cell Development in RAG-2-Deficient Mice by Functional TCR Transgenes. Science. 1993. 259: 822-825.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {202}, number = {5}, pages = {1317-1320}, pmid = {30782850}, issn = {1550-6606}, mesh = {Allergy and Immunology/*history ; Animals ; *DNA-Binding Proteins/deficiency/genetics ; History, 20th Century ; Mice ; *Receptors, Antigen, T-Cell, alpha-beta/genetics/immunology ; *T-Lymphocytes/immunology ; }, }
@article {pmid30768789, year = {2019}, author = {Nutma, E and Willison, H and Martino, G and Amor, S}, title = {Neuroimmunology - the past, present and future.}, journal = {Clinical and experimental immunology}, volume = {197}, number = {3}, pages = {278-293}, pmid = {30768789}, issn = {1365-2249}, mesh = {Animals ; Central Nervous System/*immunology/pathology ; History, 20th Century ; History, 21st Century ; Humans ; Inflammation/history/immunology/pathology ; Multiple Sclerosis/history/*immunology/pathology ; Neurodegenerative Diseases/*immunology/pathology ; *Neurology/history/trends ; }, abstract = {Neuroimmunology as a separate discipline has its roots in the fields of neurology, neuroscience and immunology. Early studies of the brain by Golgi and Cajal, the detailed clinical and neuropathology studies of Charcot and Thompson's seminal paper on graft acceptance in the central nervous system, kindled a now rapidly expanding research area, with the aim of understanding pathological mechanisms of inflammatory components of neurological disorders. While neuroimmunologists originally focused on classical neuroinflammatory disorders, such as multiple sclerosis and infections, there is strong evidence to suggest that the immune response contributes to genetic white matter disorders, epilepsy, neurodegenerative diseases, neuropsychiatric disorders, peripheral nervous system and neuro-oncological conditions, as well as ageing. Technological advances have greatly aided our knowledge of how the immune system influences the nervous system during development and ageing, and how such responses contribute to disease as well as regeneration and repair. Here, we highlight historical aspects and milestones in the field of neuroimmunology and discuss the paradigm shifts that have helped provide novel insights into disease mechanisms. We propose future perspectives including molecular biological studies and experimental models that may have the potential to push many areas of neuroimmunology. Such an understanding of neuroimmunology will open up new avenues for therapeutic approaches to manipulate neuroinflammation.}, }
@article {pmid30760854, year = {2019}, author = {Shay, JW and Wright, WE}, title = {Telomeres and telomerase: three decades of progress.}, journal = {Nature reviews. Genetics}, volume = {20}, number = {5}, pages = {299-309}, pmid = {30760854}, issn = {1471-0064}, mesh = {Abnormalities, Multiple/genetics/metabolism/pathology ; Aging/*genetics/metabolism ; Animals ; Cell Cycle Proteins/genetics/metabolism ; DNA/chemistry/genetics/metabolism ; Gene Expression Regulation ; Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Chaperones ; Neoplasms/*genetics/metabolism/pathology ; Nuclear Proteins/genetics/metabolism ; Progeria/genetics/metabolism/pathology ; Ribonucleoproteins, Small Nuclear/genetics/metabolism ; Ribonucleoproteins, Small Nucleolar/genetics/metabolism ; Shelterin Complex ; Telomerase/*genetics/metabolism ; Telomere/*chemistry/metabolism ; Telomere Homeostasis ; Telomere-Binding Proteins/genetics/metabolism ; }, abstract = {Many recent advances have emerged in the telomere and telomerase fields. This Timeline article highlights the key advances that have expanded our views on the mechanistic underpinnings of telomeres and telomerase and their roles in ageing and disease. Three decades ago, the classic view was that telomeres protected the natural ends of linear chromosomes and that telomerase was a specific telomere-terminal transferase necessary for the replication of chromosome ends in single-celled organisms. While this concept is still correct, many diverse fields associated with telomeres and telomerase have substantially matured. These areas include the discovery of most of the key molecular components of telomerase, implications for limits to cellular replication, identification and characterization of human genetic disorders that result in premature telomere shortening, the concept that inhibiting telomerase might be a successful therapeutic strategy and roles for telomeres in regulating gene expression. We discuss progress in these areas and conclude with challenges and unanswered questions in the field.}, }
@article {pmid30679065, year = {2019}, author = {Bonneuil, C}, title = {Seeing nature as a 'universal store of genes': How biological diversity became 'genetic resources', 1890-1940.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {75}, number = {}, pages = {1-14}, doi = {10.1016/j.shpsc.2018.12.002}, pmid = {30679065}, issn = {1879-2499}, mesh = {Agriculture/*history ; *Biodiversity ; Biota/*genetics ; Colonialism ; Conservation of Natural Resources/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Politics ; Social Change ; }, abstract = {Till late in the 20th century, biological diversity has been understood and addressed in terms of "genetic resources". This paper proposes a history of this "genetic resources" concept and the biopolitical practices it was related to. A semantic history of the 'resource' idiom first sheds light on how, in the age of empires and fossil industrialism, the Earth came to be considered as a stock of static mineral and living reserves. Then we follow how the gene became the unit of this "resourcist" view of biological diversity as static stocks of entities open to prospection, harnessing and "conservation". Erwin Baur, Nikolai I. Vavilov, Aleksandr S. Serebrovsky and Hermann J. Muller were key biologists who introduced a spatial turn to the gene concept. Beyond the space-time of Neo-mendelian and Morganian laboratory genetics, genes became understood though a geographical gaze at a planetary scale. The world became a "universal store of genes" (Vavilov, 1929). From 1926 to World War 2, this advent of genes as new global epistemic objects went hand in hand with genes' new modes of existence as geopolitical objects. The article documents Interwar years' scramble for genes as well as first collaborative international efforts to conserve and exchange genetic material (which prefigured post WW2 initiatives), and situates the rise of the 'genetic resources' category within mid 20th century's imperialism, high-modernism, agricultural modernization and biopolitics.}, }
@article {pmid30592978, year = {2019}, author = {Xing, C and Lu, Z and Jiang, J and Huang, L and Xu, J and He, D and Wei, Z and Huang, H and Zhang, H and Murong, C and Tu, C and Gong, W}, title = {Sub-subgenotype 2.1c isolates of classical swine fever virus are dominant in Guangdong province of China, 2018.}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {68}, number = {}, pages = {212-217}, doi = {10.1016/j.meegid.2018.12.029}, pmid = {30592978}, issn = {1567-7257}, mesh = {Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Antibodies, Neutralizing ; Antibodies, Viral/immunology ; Biopsy ; China/epidemiology ; Classical Swine Fever/diagnosis/*epidemiology/history/*virology ; Classical Swine Fever Virus/*classification/*genetics/immunology/isolation &amp; purification ; Disease Outbreaks ; Evolution, Molecular ; Genes, Viral ; *Genotype ; Geography, Medical ; History, 21st Century ; Phylogeny ; Swine ; }, abstract = {Classical swine fever (CSF) continues to be a devastating infectious disease for the swine industry in China and commonly exists as wild or atypical types. From June 3rd to October 3rd, 2018, outbreaks of typical CSF cases with mortality rates of 42-86% occurred in 11 swine herds in five cities of Guangdong province, and were confirmed by RT-PCR. Phylogenetic analyses based on the nucleotide sequences of full-length E2 genes showed that the CSFV isolates collected in Guangdong, 2018 grouped into sub-subgenotype 2.1c and formed a separate clade from previously identified 2.1c isolates. Sequence comparison further confirmed the distance between the novel emergent and previously identified 2.1c isolates, with shared 94.5-98.2% and 97.8-99.7% identities at the nucleotide and amino acid levels respectively. Furthermore, 2.1c isolates collected in 2018 from Guangdong province contained a unique amino acid substitution (K174R) in the E2 protein in comparison with other 2.1c representative strains and CSFV 2.1, 2.2, 2.3 strains. Of note, the novel emergent 2.1c isolates are neutralized by sera from C-strain vaccinated sows, indicating that C-strain is still efficacious for protection against field isolates of CSFV.}, }
@article {pmid30572028, year = {2019}, author = {Chen, N and Huang, Y and Ye, M and Li, S and Xiao, Y and Cui, B and Zhu, J}, title = {Co-infection status of classical swine fever virus (CSFV), porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circoviruses (PCV2 and PCV3) in eight regions of China from 2016 to 2018.}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {68}, number = {}, pages = {127-135}, doi = {10.1016/j.meegid.2018.12.011}, pmid = {30572028}, issn = {1567-7257}, mesh = {Animals ; China/epidemiology ; Circoviridae Infections/*veterinary ; *Circovirus/classification/genetics ; Classical Swine Fever/*epidemiology/history/virology ; *Classical Swine Fever Virus/classification/genetics ; *Coinfection ; History, 21st Century ; Multilocus Sequence Typing ; Phylogeny ; Porcine Reproductive and Respiratory Syndrome/*epidemiology/history/virology ; *Porcine respiratory and reproductive syndrome virus/classification/genetics ; Swine ; }, abstract = {Classical swine fever virus (CSFV), porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circoviruses (PCV2 and PCV3) are economically important swine viruses that cause reproductive failure and/or respiratory symptoms in pigs. However, the co-infection status of these viruses in Chinese swine herds is not well clarified. In this study, we evaluated the co-infection of these four viruses in 159 pigs collected from 63 herds in eight regions of China from 2016 to 2018. CSFV, PRRSV, PCV2 and PCV3 were detected in 14, 56, 43 and 4 of the pigs, respectively. The percentage of singular infections was 32.71%, while the percentages of dual infections and multiple infections were 15.72% and 3.15%, respectively. The E2 of CSFV, ORF5 of PRRSV, ORF2s of PCV2 and PCV3 from all positive samples were determined and used for phylogenetic analyses. E2-based phylogenetic tree showed that all 14 CSFVs identified in this study belong to 2.1b subtype. ORF5-based phylogenetic tree showed that PRRSV2 is predominant in China while PRRSV1 can also be detected. In addition, 35, 16, 4 and 1 of our PRRSVs are clustered with highly pathogenic PRRSV2, NADC30-like PRRSV2, classical PRRSV2 and PRRSV1, respectively. ORF2-based phylogenetic trees showed that our PCVs are grouped with 2 PCV2 subtypes (PCV2d and PCV2b) and 3 PCV3 subtypes (PCV3a, PCV3b and PCV3c), respectively. Our results provide the latest co-infection status and the diversity of four important swine viruses in Chinese swine herds, which is beneficial for understanding the epidemiology of these viruses.}, }
@article {pmid30566601, year = {2019}, author = {Santen, RJ and Simpson, E}, title = {History of Estrogen: Its Purification, Structure, Synthesis, Biologic Actions, and Clinical Implications.}, journal = {Endocrinology}, volume = {160}, number = {3}, pages = {605-625}, doi = {10.1210/en.2018-00529}, pmid = {30566601}, issn = {1945-7170}, mesh = {Animals ; Aromatase/genetics/isolation &amp; purification/metabolism ; Breast Neoplasms/etiology ; Clinical Studies as Topic ; Endocrinology/*history ; Estrogen Replacement Therapy/history ; Estrogens/isolation &amp; purification/*physiology ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Hormonal Contraception/history ; Humans ; Receptors, Estrogen/metabolism ; }, abstract = {This mini-review summarizes key points from the Clark Sawin Memorial Lecture on the History of Estrogen delivered at Endo 2018 and focuses on the rationales and motivation leading to various discoveries and their clinical applications. During the classical period of antiquity, incisive clinical observations uncovered important findings; however, extensive anatomical dissections to solidify proof were generally lacking. Initiation of the experimental approach followed later, influenced by Claude Bernard's treatise "An Introduction to the Study of Experimental Medicine." With this approach, investigators began to explore the function of the ovaries and their "internal secretions" and, after intensive investigations for several years, purified various estrogens. Clinical therapies for hot flashes, osteoporosis, and dysmenorrhea were quickly developed and, later, methods of hormonal contraception. Sophisticated biochemical methods revealed the mechanisms of estrogen synthesis through the enzyme aromatase and, after discovery of the estrogen receptors, their specific biologic actions. Molecular techniques facilitated understanding of the specific transcriptional and translational events requiring estrogen. This body of knowledge led to methods to prevent and treat hormone-dependent neoplasms as well as a variety of other estrogen-related conditions. More recently, the role of estrogen in men was uncovered by prismatic examples of estrogen deficiency in male patients and by knockout of the estrogen receptor and aromatase in animals. As studies became more extensive, the effects of estrogen on nearly every organ were described. We conclude that the history of estrogen illustrates the role of intellectual reasoning, motivation, and serendipity in advancing knowledge about this important sex steroid.}, }
@article {pmid30554378, year = {2019}, author = {Hoßfeld, U and Levit, GS and Watts, E}, title = {100 Years of phenogenetics: Valentin Haecker and his examination of the phenotype.}, journal = {Molecular genetics and genomics : MGG}, volume = {294}, number = {2}, pages = {445-456}, pmid = {30554378}, issn = {1617-4623}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Mutation/genetics ; *Phenotype ; }, abstract = {Following the 'rediscovery' of Mendel's work around 1900 the study of genetics grew rapidly and multiple new inheritance theories quickly emerged such as Hugo de Vries' "Mutation Theory" (1901) and the "Boveri-Sutton Chromosome Theory" (1902). Mendel's work also caught the attention of the German geneticist Valentin Haecker, yet he was generally dissatisfied the simplicity of Mendelian genetics as he believed that inheritance and the expression of various characteristics appeared to be much more complex than the proposed "on-off hypotheses". Haecker's primary objection was that Mendelian-based theories still failed to bridge the gap between hereditary units and phenotypic traits. Haecker thus set out to bridge this gap in his research program, which he called Phänogenetik ("phenogenetics"). He outlined his work in a special study "Entwicklungsgeschichtliche Eigenschaftsanalyse (Phänogenetik)" in 1918. 2018 thus marks the 100th anniversary of Haecker's seminal publication, which was devoted to the analysis of the phenotype and highlighted the true complexity of heredity. This article takes a specific look at Haecker and his work, while also illustrating how this often forgotten scientist influenced the field of genetics and other scientists.}, }
@article {pmid30540129, year = {2019}, author = {Cuenca, L and Gil-Martinez, AL and Cano-Fernandez, L and Sanchez-Rodrigo, C and Estrada, C and Fernandez-Villalba, E and Herrero, MT}, title = {Parkinson's disease: a short story of 200 years.}, journal = {Histology and histopathology}, volume = {34}, number = {6}, pages = {573-591}, doi = {10.14670/HH-18-073}, pmid = {30540129}, issn = {1699-5848}, support = {FS 20179/OC/17//Fundaci&#xf3;n S&#xe9;neca/ ; -//-/ ; }, mesh = {Animals ; Calcium/metabolism ; Disease Progression ; Dopamine/*metabolism ; Genetic Predisposition to Disease ; Genetic Therapy ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Homeostasis ; Humans ; Inflammation ; Lewy Bodies/metabolism ; Mitochondria/metabolism ; Motor Skills ; Oxidative Stress ; Parkinson Disease/*diagnosis/genetics/*history/*physiopathology ; Proteasome Endopeptidase Complex/metabolism ; Reactive Oxygen Species/metabolism ; Risk Factors ; Ubiquitin/metabolism ; Ubiquitin-Protein Ligases/genetics ; alpha-Synuclein/genetics ; }, abstract = {After Alzheimer's disease, Parkinson's disease (PD) is the second most prevalent and incidental neurodegenerative disorder, affecting more than 2% of the population older than 65 years old. Since it was first described 200 years ago by Dr James Parkinson, great steps have been made in the understanding of the pathology. However, the cause(s) that initiates and perpetuates the neurodegenerative process is (are) still not clear. Thus, early diagnosis is not available, nor are there efficient therapies that can stop neurodegeneration. PD clinical features are defined by motor (like bradykinesia, resting tremor, gait impairment) and non-motor symptoms (like constipation, apathy, fathigue, olfactory dysfunction, depression and cognitive decline) that get more severe as the disease advances. Neuropathological hallmarks comprise selective loss of dopaminergic neurons in the Substantia Nigra pars compacta (SNpc) and Lewy bodies (LB) in different nuclei of the nervous system. Numerous studies have shown that these pathological features are aggravated by the confluence of other contributing factors, such as a genetic component, exposure to environmental toxins, mitochondrial dysfunction, increase of oxidative stress, calcium imbalance and chronic neuroinflammation, among others. Here, we provide a summary of the actual state of PD's pathology, the most studied molecular mechanisms, classic and novel therapeutic strategies and diagnosis methods, especially highlighting recent advances in these 200 years.}, }
@article {pmid30425216, year = {2018}, author = {Malaviya, AN and Mehra, NK}, title = {A fascinating story of the discovery &amp; development of biologicals for use in clinical medicine.}, journal = {The Indian journal of medical research}, volume = {148}, number = {3}, pages = {263-278}, pmid = {30425216}, issn = {0971-5916}, mesh = {Biological Products/history/pharmacology ; Drug Development/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Targeted Therapy/*history ; }, abstract = {A young physician starting a fresh career in medicine in this millennium would hardly stop to think about the genesis of a particular biological drug that he/she will be prescribing for a patient evaluated in the morning outpatient department. For him/her, this is now routine, and the question of 'Who', 'How' and 'When' about these biologicals would be the last thing on their mind. However, for those who came to the medical profession in the 1950s, 1960s and 1970s, these targeted drugs are nothing short of 'miracles'. It would be a fascinating story for the young doctor to learn about the long journey that the dedicated biomedical scientists of yesteryears took to reach the final destination of producing such wonder drugs. The story is much like an interesting novel, full of twists and turns, heart-breaking failures and glorious successes. The biologicals acting as 'targeted therapy' have not only changed the natural history of a large number of incurable/uncontrollable diseases but have also transformed the whole approach towards drug development. From the classical empirical process, there is now a complete shift towards understanding the disease pathobiology focusing on the dysregulated molecule(s), targeting them with greater precision and aiming for better results. Seminal advances in understanding the disease mechanism, development of remarkably effective new technologies, greater knowledge of the human genome and genetic medicine have all made it possible to reach the stage where artificially developed 'targeted' drugs are now therapeutically used in routine clinical medicine.}, }
@article {pmid30417088, year = {2018}, author = {Krzewińska, M and Kılınç, GM and Juras, A and Koptekin, D and Chyleński, M and Nikitin, AG and Shcherbakov, N and Shuteleva, I and Leonova, T and Kraeva, L and Sungatov, FA and Sultanova, AN and Potekhina, I and Łukasik, S and Krenz-Niedbała, M and Dalén, L and Sinika, V and Jakobsson, M and Storå, J and Götherström, A}, title = {Ancient genomes suggest the eastern Pontic-Caspian steppe as the source of western Iron Age nomads.}, journal = {Science advances}, volume = {4}, number = {10}, pages = {eaat4457}, pmid = {30417088}, issn = {2375-2548}, mesh = {Asia ; Chromosomes, Human, Y ; DNA, Mitochondrial ; Europe ; Asia, Eastern ; Genetic Drift ; Genetics, Population ; Genome, Human/*genetics ; Haplotypes ; History, Ancient ; Human Migration/*history ; Humans ; Male ; White People/genetics ; }, abstract = {For millennia, the Pontic-Caspian steppe was a connector between the Eurasian steppe and Europe. In this scene, multidirectional and sequential movements of different populations may have occurred, including those of the Eurasian steppe nomads. We sequenced 35 genomes (low to medium coverage) of Bronze Age individuals (Srubnaya-Alakulskaya) and Iron Age nomads (Cimmerians, Scythians, and Sarmatians) that represent four distinct cultural entities corresponding to the chronological sequence of cultural complexes in the region. Our results suggest that, despite genetic links among these peoples, no group can be considered a direct ancestor of the subsequent group. The nomadic populations were heterogeneous and carried genetic affinities with populations from several other regions including the Far East and the southern Urals. We found evidence of a stable shared genetic signature, making the eastern Pontic-Caspian steppe a likely source of western nomadic groups.}, }
@article {pmid30414977, year = {2019}, author = {Zhirakovskaia, E and Tikunov, A and Tymentsev, A and Sokolov, S and Sedelnikova, D and Tikunova, N}, title = {Changing pattern of prevalence and genetic diversity of rotavirus, norovirus, astrovirus, and bocavirus associated with childhood diarrhea in Asian Russia, 2009-2012.}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {67}, number = {}, pages = {167-182}, doi = {10.1016/j.meegid.2018.11.006}, pmid = {30414977}, issn = {1567-7257}, mesh = {Age Distribution ; Age Factors ; Astroviridae/*genetics ; Bocavirus/*genetics ; Child ; Child, Preschool ; Diarrhea/*epidemiology/history/*virology ; Female ; *Genetic Variation ; Genotype ; History, 21st Century ; Humans ; Male ; Molecular Typing ; Norovirus/*genetics ; Odds Ratio ; Phylogeny ; Prevalence ; Public Health Surveillance ; RNA, Viral ; Rotavirus/*genetics ; Russia/epidemiology ; Seasons ; }, abstract = {This hospital-based surveillance study was carried out in Novosibirsk, Asian Russia from September 2009 to December 2012. Stool samples from 5486 children with diarrhea and from 339 healthy controls were screened for rotavirus, norovirus, astrovirus, and bocavirus by RT-PCR. At least one enteric virus was found in 2075 (37.8%) cases with diarrhea and 8 (2.4%) controls. In the diarrhea cases, rotavirus was the most commonly detected virus (24.9%), followed by norovirus (13.4%), astrovirus (2.8%) and bocavirus (1.1%). Mixed viral infections were identified in 4.3% cases. The prevalence of enteric viruses varied every season. Rotavirus infection was distributed in a typical seasonal pattern with a significant annual increase from November to May, while infections caused by other viruses showed no apparent seasonality. The most common rotavirus was G4P[8] (56%), followed by G1P[8] (20.1%), G3P[8] (5.5%), G9P[8], G2P[4] (each 1.3%), six unusual (1.2%), and five mixed strains (0.5%). Norovirus GII.3 (66.5%) was predominant, followed by GII.4 (27.3%), GII.6 (3.7%), GII.1 (1.6%), and four rare genotypes (totally, 0.9%). Re-infection with noroviruses of different genotypes was observed in four children. The classic human astrovirus belonged to HAstV-1 (82%), HAstV-5 (8%), HAstV-4 (4.7%), HAstV-3 (4%) and HAstV-2 (1.3%). Consecutive episodes of HAstV-1 and HAstV-4 infections were detected in one child with an 8-month interval. Bocavirus strains were genotyped as HBoV2 (56.5%), HBoV1 (38.7%), HBoV4 (3.2%) and HBoV3 (1.6%). In the controls, norovirus strains belonged to GII.4 (n = 4), GII.1, GII.3, and GII.6, and HBoV2 strain were detected. Most of the detected virus isolates were characterized by a partial sequencing of the genomes. The genotype distribution of most common enteric viruses found in the Asian part of Russia did not differ considerably from their distribution in European Russia in 2009-2012.}, }
@article {pmid30409395, year = {2018}, author = {Khudaverdyan, AY}, title = {Illuminating the processes of microevolution: A bioarchaeological analysis of dental non-metric traits from Armenian Highland.}, journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen}, volume = {69}, number = {6}, pages = {304-323}, doi = {10.1016/j.jchb.2018.10.002}, pmid = {30409395}, issn = {1618-1301}, mesh = {Adult ; Anatomic Variation/*physiology ; Anthropology, Physical ; Archaeology ; Armenia ; *Biological Evolution ; Female ; Georgia (Republic) ; History, Ancient ; Humans ; Male ; Tooth/*anatomy &amp; histology ; }, abstract = {Non-metric dental traits provide useful information for assessing temporal changes as well as for assessing biological relationships among living and ancient populations. Dental morphological traits were employed in this study as direct indicators of biological affinities among the populations that inhabited the Armenian Highland from the Late Chalcolithic-Early Bronze Age to Modern times. Sixteen morphological features in 2643 permanent adult teeth from 41 samples coming from 5 areas within the Armenian Highland were scored. Both Zubov's standard protocol and Turner's ASUDAS were employed. Given the paucity of odontological data for this area, this study contributes to the dental non-metric traits' history of Armenian Highland and is a summary compilation and comparison of previously conducted work where non-metric traits were used in relation to dental reductions within the ancient Caucasus and Near East. The chronological sequence is considerable and spans from the Late Chalcolithic-Bronze Age to the Modern Age. It is suggested that offspring of ancient inhabitants of Armenian Highland continued to inhabit this area during the Late Iron Age, Classical/Late Antiquity, Middle Age and Modern period. This scenario indicates genetic continuity and gene flow between populations. Such a perspective is supported by the archaeological and molecular findings.}, }
@article {pmid30402778, year = {2019}, author = {Sepkoski, D}, title = {The Unfinished Synthesis?: Paleontology and Evolutionary Biology in the 20th Century.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {687-703}, pmid = {30402778}, issn = {1573-0387}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Paleontology/*history ; *Selection, Genetic ; }, abstract = {In the received view of the history of the Modern Evolutionary Synthesis, paleontology was given a prominent role in evolutionary biology thanks to the significant influence of paleontologist George Gaylord Simpson on both the institutional and conceptual development of the Synthesis. Simpson's 1944 Tempo and Mode in Evolution is considered a classic of Synthesis-era biology, and Simpson often remarked on the influence of other major Synthesis figures - such as Ernst Mayr and Theodosius Dobzhansky - on his developing thought. Why, then, did paleontologists of the 1970s and 1980s - Stephen Jay Gould, Niles Eldredge, David M. Raup, Steven Stanley, and others - so frequently complain that paleontology remained marginalized within evolutionary biology? This essay considers three linked questions: first, were paleontologists genuinely welcomed into the Synthetic project during its initial stages? Second, was the initial promise of the role for paleontology realized during the decades between 1950 and 1980, when the Synthesis supposedly "hardened" to an "orthodoxy"? And third, did the period of organized dissent and opposition to this orthodoxy by paleontologists during the 1970s and 1980s bring about a long-delayed completion to the Modern Synthesis, or rather does it highlight the wider failure of any such unified Darwinian evolutionary consensus?}, }
@article {pmid30389159, year = {2018}, author = {Balajee, AS and Hande, MP}, title = {History and evolution of cytogenetic techniques: Current and future applications in basic and clinical research.}, journal = {Mutation research. Genetic toxicology and environmental mutagenesis}, volume = {836}, number = {Pt A}, pages = {3-12}, doi = {10.1016/j.mrgentox.2018.08.008}, pmid = {30389159}, issn = {1879-3592}, mesh = {*Chromosome Aberrations ; Cytogenetic Analysis/*history ; Genetic Diseases, Inborn/*diagnosis/*genetics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; *Mutagenesis ; }, abstract = {Chromosomes are the vehicles of genes, which are the functional units of a cell's nucleus. In humans, there are more than 20,000 genes that are distributed among 46 chromosomes in somatic cells. The study of chromosome structure and function is known as cytogenetics which is historically a field of hybrid science encompassing cytology and genetics. The field of cytogenetics has undergone rapid developments over the last several decades from classical Giemsa staining of chromosomes to 3-dimensional spatial organization of chromosomes with a high resolution mapping of gene structure at the nucleotide level. Improved molecular cytogenetic techniques have opened up exciting possibilities for understanding the chromosomal/molecular basis of various human diseases including cancer and tissue degeneration. This review summaries the history and evolution of various cytogenetic techniques and their current and future applications in diverse areas of basic research and medical diagnostics.}, }
@article {pmid30348658, year = {2018}, author = {Muramatsu, M and Kinoshita, K and Fagarasan, S and Yamada, S and Shinkai, Y and Honjo, T}, title = {Pillars Article: Class Switch Recombination and Hypermutation Require Activation-Induced Cytidine Deaminase (AID), a Potential RNA Editing Enzyme. Cell. 2000. 102: 553-563.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {201}, number = {9}, pages = {2530-2540}, pmid = {30348658}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocytes/cytology/*immunology ; Cell Line ; Cytidine Deaminase/*genetics ; Genes, Immunoglobulin/genetics/immunology ; History, 20th Century ; History, 21st Century ; Humans ; Hyper-IgM Immunodeficiency Syndrome/genetics ; Immunoglobulin A/genetics ; Immunoglobulin Class Switching/*genetics/immunology ; Immunoglobulin M/genetics ; Mice ; Mice, Knockout ; RNA Editing/genetics ; Somatic Hypermutation, Immunoglobulin/*genetics/immunology ; }, }
@article {pmid30348657, year = {2018}, author = {Leeman-Neill, RJ and Lim, J and Basu, U}, title = {The Common Key to Class-Switch Recombination and Somatic Hypermutation: Discovery of AID and Its Role in Antibody Gene Diversification.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {201}, number = {9}, pages = {2527-2529}, pmid = {30348657}, issn = {1550-6606}, support = {P30 ES009089/ES/NIEHS NIH HHS/United States ; R01 AI099195/AI/NIAID NIH HHS/United States ; R01 AI134988/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; B-Lymphocytes/cytology/*immunology ; Cell Line ; Cytidine Deaminase/*genetics ; Genes, Immunoglobulin/genetics/immunology ; History, 20th Century ; History, 21st Century ; Humans ; Hyper-IgM Immunodeficiency Syndrome/genetics ; Immunoglobulin Class Switching/*genetics/immunology ; Mice ; Somatic Hypermutation, Immunoglobulin/*genetics/immunology ; }, }
@article {pmid30298598, year = {2018}, author = {Elston, RC}, title = {Fisher's influence on me.}, journal = {Genetic epidemiology}, volume = {42}, number = {8}, pages = {849-853}, doi = {10.1002/gepi.22165}, pmid = {30298598}, issn = {1098-2272}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; *Molecular Epidemiology ; Pedigree ; Probability ; }, abstract = {This is the 100th year anniversary of Fisher's 1918 paper "The correlation between relatives on the supposition of Mendelian inheritance" (Transactions of the Royal Society of Edinburgh 1918, 52 pp 899-438). Fisher's work has had a strong influence on today's genetic epidemiology and this brief autobiographical note highlights a few of the ways his influence on me has affected the field. Although I once took a course of lectures from Fisher, it was mainly his writings that influenced my statistical thinking. Not only did the concept of maximum likelihood appeal to me, but also the concepts of interclass and intraclass correlations, discriminant analysis, and transforming semiquantitative scores to minimize interactions-all topics I first learned about from the 11th edition of his book on Statistical Methods for Research Workers. This, together with a few serendipitous events that shaped my career, had a large influence on me and hence also on the field of genetic epidemiology.}, }
@article {pmid30264379, year = {2018}, author = {Nicoglou, A}, title = {Waddington's epigenetics or the pictorial meetings of development and genetics.}, journal = {History and philosophy of the life sciences}, volume = {40}, number = {4}, pages = {61}, doi = {10.1007/s40656-018-0228-8}, pmid = {30264379}, issn = {0391-9714}, support = {ANR-11-IDEX-0005-02//French government through its "Investments for the Future" Program operated by the French National Research Agency (ANR)/ ; }, mesh = {Animals ; Biological Evolution ; Developmental Biology/*history ; Embryology/*history ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; }, abstract = {In 1956, in his Principles of Embryology, Conrad Hal Waddington explained that the word "epigenetics" should be used to translate and update Wilhelm Roux' German notion of "Entwicklungsmechanik" (1890) to qualify the studies focusing on the mechanisms of development. When Waddington mentioned it in 1956, the notion of epigenetics was not yet popular, as it would become from the 1980s. However, Waddington referred first to the notion in the late 1930s. While his late allusion clearly reveals that Waddington readily associated the notion of epigenetics with the developmental process, in the contemporary uses of the notion this developmental connotation seems to have disappeared. The advent and success of molecular biology have probably contributed to focusing biologists' attention on the "genetic" or the "non-genetic" over the "developmental". In the present paper, I first examine the links that exist, in Waddington's work, between the classical notion of epigenesis in embryology and those of epigenetics that Waddington proposed to connect, and even synthesize, data both from embryology and genetics. Second, I show that Waddington's own view of epigenetics has changed over time and I analyze how these changes appear through his many representations (both schematic or metaphorical images) of the relationships between genetic signals and developmental processes.}, }
@article {pmid30243857, year = {2018}, author = {Wirtz, J and Rauscher, M and Wiehe, T}, title = {Topological linkage disequilibrium calculated from coalescent genealogies.}, journal = {Theoretical population biology}, volume = {124}, number = {}, pages = {41-50}, doi = {10.1016/j.tpb.2018.09.001}, pmid = {30243857}, issn = {1096-0325}, mesh = {Alleles ; Chromosomes ; Computer Simulation ; Genealogy and Heraldry ; Genetic Variation ; *Genetics, Population ; Haplotypes ; Linkage Disequilibrium/*genetics ; Markov Chains ; *Models, Genetic ; Recombination, Genetic ; }, abstract = {We revisit the classical, and introduce a novel, concept of two-locus linkage disequilibrium (LD). In contrast to defining haplotypes as allele combinations at two marker loci, we concentrate on the clustering of a sample of chromosomes induced by their coalescent genealogy. The root of a binary coalescent tree defines two clusters of chromosomes, each one of them containing the left and right descendants of the root. At two different loci this assignment may be different as a result of recombination. We show that the proportion of shared chromosomes among clusters at two different loci, measured by the squared correlation, constitutes a natural measure of LD. We call this topological LD (tLD) since it is induced by the topology of the coalescent tree. We find that it is, on average, larger than classical LD for any given distance between loci. Furthermore, tLD has a smaller coefficient of variation, which should provide an advantage, compared to the use of classical LD, for any kind of mapping purposes. We conclude with a practical application to the LCT region in human populations.}, }
@article {pmid30201914, year = {2018}, author = {Burgio, E and Piscitelli, P and Migliore, L}, title = {Ionizing Radiation and Human Health: Reviewing Models of Exposure and Mechanisms of Cellular Damage. An Epigenetic Perspective.}, journal = {International journal of environmental research and public health}, volume = {15}, number = {9}, pages = {}, pmid = {30201914}, issn = {1660-4601}, mesh = {Animals ; Chernobyl Nuclear Accident ; DNA Damage ; Epigenesis, Genetic ; Genomic Instability ; Humans ; Radiation Exposure ; *Radiation, Ionizing ; }, abstract = {We reviewed available evidence in medical literature concerning experimental models of exposure to ionizing radiations (IR) and their mechanisms of producing damages on living organisms. The traditional model is based on the theory of "stochastic breakage" of one or both strands of the DNA double helix. According to this model, high doses may cause the breaks, potentially lethal to the cell by damaging both DNA strands, while low doses of IR would cause essentially single strands breaks, easily repairable, resulting in no permanent damages. The available evidence makes this classical model increasingly less acceptable, because the exposure to low doses of IR seems to have carcinogenic effects, even after years or decades, both in the exposed individuals and in subsequent generations. In addition, the cells that survived the exposure to low doses, despite being apparently normal, accumulate damages that become evident in their progeny, such as nonclonal chromosomal aberrations, which can be found even in cells not directly irradiated due to the exchange of molecular signals and complex tissue reactions involving neighboring or distant cells. For all these reasons, a paradigm shift is needed, based on evidence and epigenetics.}, }
@article {pmid30146150, year = {2018}, author = {Krzewińska, M and Kjellström, A and Günther, T and Hedenstierna-Jonson, C and Zachrisson, T and Omrak, A and Yaka, R and Kılınç, GM and Somel, M and Sobrado, V and Evans, J and Knipper, C and Jakobsson, M and Storå, J and Götherström, A}, title = {Genomic and Strontium Isotope Variation Reveal Immigration Patterns in a Viking Age Town.}, journal = {Current biology : CB}, volume = {28}, number = {17}, pages = {2730-2738.e10}, doi = {10.1016/j.cub.2018.06.053}, pmid = {30146150}, issn = {1879-0445}, mesh = {Bone and Bones/chemistry ; Cities ; DNA/*genetics ; *Emigration and Immigration/history ; Female ; *Genome-Wide Association Study ; Genomics ; History, Ancient ; Humans ; Male ; Strontium/*chemistry ; Strontium Isotopes ; Sweden ; }, abstract = {The impact of human mobility on the northern European urban populations during the Viking and Early Middle Ages and its repercussions in Scandinavia itself are still largely unexplored. Our study of the demographics in the final phase of the Viking era is the first comprehensive multidisciplinary investigation that includes genetics, isotopes, archaeology, and osteology on a larger scale. This early Christian dataset is particularly important as the earlier common pagan burial tradition during the Iron Age was cremation, hindering large-scale DNA analyses. We present genome-wide sequence data from 23 individuals from the 10[th] to 12[th] century Swedish town of Sigtuna. The data revealed high genetic diversity among the early urban residents. The observed variation exceeds the genetic diversity in distinct modern-day and Iron Age groups of central and northern Europe. Strontium isotope data suggest mixed local and non-local origin of the townspeople. Our results uncover the social system underlying the urbanization process of the Viking World of which mobility was an intricate part and was comparable between males and females. The inhabitants of Sigtuna were heterogeneous in their genetic affinities, probably reflecting both close and distant connections through an established network, confirming that early urbanization processes in northern Europe were driven by migration.}, }
@article {pmid30075327, year = {2018}, author = {Alonso-Llamazares, C and Gómez, C and García-Manrique, P and Pardiñas, AF and López, B}, title = {Medical diagnostic methods applied to a medieval female with vitamin D deficiency from the north of Spain.}, journal = {International journal of paleopathology}, volume = {22}, number = {}, pages = {109-120}, doi = {10.1016/j.ijpp.2018.07.007}, pmid = {30075327}, issn = {1879-9825}, mesh = {Adult ; Bone Density ; Female ; History, Medieval ; Humans ; Osteomalacia/history ; Paleopathology/*methods ; Spain ; Vitamin D Deficiency/*history ; }, abstract = {Vitamin D deficiency is a pathological condition that affects bone metabolism by preventing proper mineralization, which eventually leads to bone deformities and other pathological conditions such as osteoporosis, increased bone fragility and fractures. The aim of this study is to present a case of vitamin D deficiency, but also to note how the application of several complementary techniques is a fundamental step in the establishing an accurate diagnosis. These techniques range from classical palaeopathological analysis to modern clinical practice. After the macroscopic examination of a medieval female skeleton from Palencia (Spain), where various bone deformations were observed, a differential diagnosis could not establish a definitive cause. Radiological, bone density, and histological studies were carried out, finally allowing to confirm a vitamin D deficiency suffered in both childhood and adulthood. This is a clear example, with practical applications, of the importance of interdisciplinarity to reveal insights about the life history and physical health of ancient individuals.}, }
@article {pmid30028840, year = {2018}, author = {Radenković, S and Veličković, N and Ssymank, A and Obreht Vidaković, D and Djan, M and Ståhls, G and Veselić, S and Vujić, A}, title = {Close relatives of Mediterranean endemo-relict hoverflies (Diptera, Syrphidae) in South Africa: Morphological and molecular evidence in the Merodon melanocerus subgroup.}, journal = {PloS one}, volume = {13}, number = {7}, pages = {e0200805}, pmid = {30028840}, issn = {1932-6203}, mesh = {*Animal Distribution ; Animals ; Bayes Theorem ; *Biological Evolution ; Diptera/*classification/genetics ; Electron Transport Complex IV/metabolism ; Female ; *Genes, Mitochondrial ; Geography ; Male ; Museums ; Phylogeny ; Reproducibility of Results ; South Africa ; Species Specificity ; Specimen Handling ; }, abstract = {An ongoing study of the genus Merodon Meigen, 1803 in the Republic of South Africa (RSA) has revealed the existence of new species related to M. melanocerus Bezzi, 1915. The M. melanocerus subgroup belongs to the Afrotropical lineage of the M. desuturinus group. Revision of all available material from museums and detailed analyses of newly -collected specimens from our own expeditions to RSA resulted in delimitation of five species: M. capensis Hurkmans sp. n., M. commutabilis Radenković et Vujić sp. n., M. drakonis Vujić et Radenković sp. n., M. flavocerus Hurkmans sp. n. and M. melanocerus. In addition to classical morphological characters, sequences of the mitochondrial COI gene are provided for four related taxa. Results of molecular phylogenetic analyses supports monophyly of the M. desuturinus group and confirmed delimitation between species. Links between Palaearctic and Afrotropical faunas of this group, as well as possible evolutionary paths, are discussed. Based on phylogenetic analyses, four lineages (putative subgenera) have been recognized within the genus Merodon; besides the three previously established ones, albifrons+desuturinus, aureus (sensu lato) and avidus-nigritarsis, one new lineage named natans is distinguished.}, }
@article {pmid29895902, year = {2018}, author = {Kılınç, GM and Kashuba, N and Yaka, R and Sümer, AP and Yüncü, E and Shergin, D and Ivanov, GL and Kichigin, D and Pestereva, K and Volkov, D and Mandryka, P and Kharinskii, A and Tishkin, A and Ineshin, E and Kovychev, E and Stepanov, A and Alekseev, A and Fedoseeva, SA and Somel, M and Jakobsson, M and Krzewińska, M and Storå, J and Götherström, A}, title = {Investigating Holocene human population history in North Asia using ancient mitogenomes.}, journal = {Scientific reports}, volume = {8}, number = {1}, pages = {8969}, pmid = {29895902}, issn = {2045-2322}, mesh = {Asia, Northern ; *DNA, Ancient ; DNA, Mitochondrial/*genetics ; Female ; *Genetic Variation ; *Genome, Microbial ; History, Ancient ; Humans ; Male ; }, abstract = {Archaeogenomic studies have largely elucidated human population history in West Eurasia during the Stone Age. However, despite being a broad geographical region of significant cultural and linguistic diversity, little is known about the population history in North Asia. We present complete mitochondrial genome sequences together with stable isotope data for 41 serially sampled ancient individuals from North Asia, dated between c.13,790 BP and c.1,380 BP extending from the Palaeolithic to the Iron Age. Analyses of mitochondrial DNA sequences and haplogroup data of these individuals revealed the highest genetic affinity to present-day North Asian populations of the same geographical region suggesting a possible long-term maternal genetic continuity in the region. We observed a decrease in genetic diversity over time and a reduction of maternal effective population size (Ne) approximately seven thousand years before present. Coalescent simulations were consistent with genetic continuity between present day individuals and individuals dating to 7,000 BP, 4,800 BP or 3,000 BP. Meanwhile, genetic differences observed between 7,000 BP and 3,000 BP as well as between 4,800 BP and 3,000 BP were inconsistent with genetic drift alone, suggesting gene flow into the region from distant gene pools or structure within the population. These results indicate that despite some level of continuity between ancient groups and present-day populations, the region exhibits a complex demographic history during the Holocene.}, }
@article {pmid29743673, year = {2018}, author = {Mühlemann, B and Jones, TC and Damgaard, PB and Allentoft, ME and Shevnina, I and Logvin, A and Usmanova, E and Panyushkina, IP and Boldgiv, B and Bazartseren, T and Tashbaeva, K and Merz, V and Lau, N and Smrčka, V and Voyakin, D and Kitov, E and Epimakhov, A and Pokutta, D and Vicze, M and Price, TD and Moiseyev, V and Hansen, AJ and Orlando, L and Rasmussen, S and Sikora, M and Vinner, L and Osterhaus, ADME and Smith, DJ and Glebe, D and Fouchier, RAM and Drosten, C and Sjögren, KG and Kristiansen, K and Willerslev, E}, title = {Ancient hepatitis B viruses from the Bronze Age to the Medieval period.}, journal = {Nature}, volume = {557}, number = {7705}, pages = {418-423}, doi = {10.1038/s41586-018-0097-z}, pmid = {29743673}, issn = {1476-4687}, mesh = {Africa ; Animals ; Asia ; Europe ; *Evolution, Molecular ; Genotype ; Hepatitis B/*virology ; Hepatitis B virus/classification/*genetics/*isolation &amp; purification ; History, Ancient ; History, Medieval ; Hominidae/virology ; Human Migration/history ; Humans ; *Phylogeny ; Recombination, Genetic ; }, abstract = {Hepatitis B virus (HBV) is a major cause of human hepatitis. There is considerable uncertainty about the timescale of its evolution and its association with humans. Here we present 12 full or partial ancient HBV genomes that are between approximately 0.8 and 4.5 thousand years old. The ancient sequences group either within or in a sister relationship with extant human or other ape HBV clades. Generally, the genome properties follow those of modern HBV. The root of the HBV tree is projected to between 8.6 and 20.9 thousand years ago, and we estimate a substitution rate of 8.04 × 10[-6]-1.51 × 10[-5] nucleotide substitutions per site per year. In several cases, the geographical locations of the ancient genotypes do not match present-day distributions. Genotypes that today are typical of Africa and Asia, and a subgenotype from India, are shown to have an early Eurasian presence. The geographical and temporal patterns that we observe in ancient and modern HBV genotypes are compatible with well-documented human migrations during the Bronze and Iron Ages[1,2]. We provide evidence for the creation of HBV genotype A via recombination, and for a long-term association of modern HBV genotypes with humans, including the discovery of a human genotype that is now extinct. These data expose a complexity of HBV evolution that is not evident when considering modern sequences alone.}, }
@article {pmid29719288, year = {2018}, author = {Miller, WL}, title = {The Hypothalamic-Pituitary-Adrenal Axis: A Brief History.}, journal = {Hormone research in paediatrics}, volume = {89}, number = {4}, pages = {212-223}, doi = {10.1159/000487755}, pmid = {29719288}, issn = {1663-2826}, mesh = {Adrenocorticotropic Hormone/history/*metabolism ; Animals ; Corticotropin-Releasing Hormone/history/*metabolism ; Endocrinology/*history ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Hydrocortisone/history/*metabolism ; Hypothalamo-Hypophyseal System/*metabolism ; Pituitary-Adrenal System/*metabolism ; Receptors, Cell Surface/history/*metabolism ; }, abstract = {The hypothalamic-pituitary-adrenal (HPA) axis is central to homeostasis, stress responses, energy metabolism, and neuropsychiatric function. The history of this complex system involves discovery of the relevant glands (adrenal, pituitary, hypothalamus), hormones (cortisol, corticotropin, corticotropin-releasing hormone), and the receptors for these hormones. The adrenal and pituitary were identified by classical anatomists, but most of this history has taken place rather recently, and has involved complex chemistry, biochemistry, genetics, and clinical investigation. The integration of the HPA axis with modern neurology and psychiatry has cemented the role of endocrinology in contemporary studies of behavior.}, }
@article {pmid29704514, year = {2018}, author = {Lambert, A}, title = {The coalescent of a sample from a binary branching process.}, journal = {Theoretical population biology}, volume = {122}, number = {}, pages = {30-35}, doi = {10.1016/j.tpb.2018.04.005}, pmid = {29704514}, issn = {1096-0325}, mesh = {Algorithms ; Animals ; *Binomial Distribution ; Birth Rate ; Death ; Genealogy and Heraldry ; *Genetics, Population ; Humans ; *Models, Genetic ; Mortality ; Parturition ; *Probability ; }, abstract = {At time 0, start a time-continuous binary branching process, where particles give birth to a single particle independently (at a possibly time-dependent rate) and die independently (at a possibly time-dependent and age-dependent rate). A particular case is the classical birth-death process. Stop this process at time T>0. It is known that the tree spanned by the N tips alive at time T of the tree thus obtained (called a reduced tree or coalescent tree) is a coalescent point process (CPP), which basically means that the depths of interior nodes are independent and identically distributed (iid). Now select each of the N tips independently with probability y (Bernoulli sample). It is known that the tree generated by the selected tips, which we will call the Bernoulli sampled CPP, is again a CPP. Now instead, select exactly k tips uniformly at random among the N tips (a k-sample). We show that the tree generated by the selected tips is a mixture of Bernoulli sampled CPPs with the same parent CPP, over some explicit distribution of the sampling probability y. An immediate consequence is that the genealogy of a k-sample can be obtained by the realization of k random variables, first the random sampling probability Y and then the k-1 node depths which are iid conditional on Y=y.}, }
@article {pmid29701855, year = {2018}, author = {Kassir, Y}, title = {Family or career? I want both-the control of meiosis.}, journal = {FEMS yeast research}, volume = {18}, number = {4}, pages = {}, doi = {10.1093/femsyr/foy044}, pmid = {29701855}, issn = {1567-1364}, mesh = {Biomedical Research ; Career Choice ; Family ; History, 20th Century ; History, 21st Century ; Humans ; *Meiosis ; Mycology/*history ; Saccharomycetales/*growth &amp; development ; }, abstract = {In this paper I describe my professional and personal journey in science. In the 20th century there were fewer women scientists than man scientists. My personal experience and opinion is that women avoided academic careers. How one can combine family and career is discussed. The interest in science and the interactions I had with prominent leading Yeast Scientists changed my point of view, I matured and developed an academic career. My research focused on how budding yeast cells chose to exit the cell cycle and enter meiosis. My journey started using classical Genetic techniques. The development of Genetic engineering techniques enabled us to verify models and elucidate how entry into meiosis is controlled.}, }
@article {pmid29696989, year = {2018}, author = {Victor, MM and da Silva, BS and Kappel, DB and Bau, CH and Grevet, EH}, title = {Attention-deficit hyperactivity disorder in ancient Greece: The Obtuse Man of Theophrastus.}, journal = {The Australian and New Zealand journal of psychiatry}, volume = {52}, number = {6}, pages = {509-513}, doi = {10.1177/0004867418769743}, pmid = {29696989}, issn = {1440-1614}, mesh = {Adult ; Attention Deficit Disorder with Hyperactivity/history/*physiopathology ; Greece, Ancient ; History, Ancient ; Humans ; Male ; }, abstract = {We present an ancient Greek description written by the philosopher Theophrastus in his classic book ' Characters' comparable with modern attention-deficit hyperactivity disorder. The arguments are based in one chapter of this book-The Obtuse Man-presenting features of a character closely resembling the modern description of attention-deficit hyperactivity disorder. In a free comparative exercise, we compared Theophrastus descriptions with modern Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) attention-deficit hyperactivity disorder symptoms. The sentences describing The Obtuse Man written by Theophrastus are similar to several symptoms of attention-deficit hyperactivity disorder and he would probably be currently diagnosed with this disorder as an adult. To our knowledge, this is the oldest description compatible with the current conception of attention-deficit hyperactivity disorder in adults in the Western literature. Differently than the moralistic view of ancient Greece regarding those symptoms, the medical attention-deficit hyperactivity disorder conception may be advantageous to patients since it might reduce prejudice and allow individuals to seek treatment.}, }
@article {pmid29693443, year = {2018}, author = {Sheldon, KS and Huey, RB and Kaspari, M and Sanders, NJ}, title = {Fifty Years of Mountain Passes: A Perspective on Dan Janzen's Classic Article.}, journal = {The American naturalist}, volume = {191}, number = {5}, pages = {553-565}, doi = {10.1086/697046}, pmid = {29693443}, issn = {1537-5323}, mesh = {*Acclimatization ; *Altitude ; Animals ; Costa Rica ; Ecology/*history ; Ecosystem ; Genetic Speciation ; Geography ; History, 20th Century ; Humans ; *Seasons ; *Tropical Climate ; }, abstract = {In 1967, Dan Janzen published "Why Mountain Passes Are Higher in the Tropics" in The American Naturalist. Janzen's seminal article has captured the attention of generations of biologists and continues to inspire theoretical and empirical work. The underlying assumptions and derived predictions are broadly synthetic and widely applicable. Consequently, Janzen's "seasonality hypothesis" has proven relevant to physiology, climate change, ecology, and evolution. To celebrate the fiftieth anniversary of this highly influential article, we highlight the past, present, and future of this work and include a unique historical perspective from Janzen himself.}, }
@article {pmid29537034, year = {2018}, author = {Schor, R and Cox, R}, title = {Classic fungal natural products in the genomic age: the molecular legacy of Harold Raistrick.}, journal = {Natural product reports}, volume = {35}, number = {3}, pages = {230-256}, doi = {10.1039/c8np00021b}, pmid = {29537034}, issn = {1460-4752}, mesh = {Benzofurans/metabolism ; Biological Products/*history/metabolism ; Citrinin/chemistry/metabolism ; Emodin/metabolism ; Fungi/chemistry/genetics/*metabolism ; Griseofulvin/chemistry/pharmacology ; History, 20th Century ; Humans ; Lactones/chemistry ; Mycophenolic Acid/metabolism/pharmacology ; Zearalenone/analogs &amp; derivatives/chemistry/metabolism ; }, abstract = {Covering: 1893 to 2017Harold Raistrick was involved in the discovery of many of the most important classes of fungal metabolites during the 20th century. This review focusses on how these discoveries led to developments in isotopic labelling, biomimetic chemistry and the discovery, analysis and exploitation of biosynthetic gene clusters for major classes of fungal metabolites including: alternariol; geodin and metabolites of the emodin pathway; maleidrides; citrinin and the azaphilones; dehydrocurvularin; mycophenolic acid; and the tropolones. Key recent advances in the molecular understanding of these important pathways, including the discovery of biosynthetic gene clusters, the investigation of the molecular and chemical aspects of key biosynthetic steps, and the reengineering of key components of the pathways are reviewed and compared. Finally, discussion of key relationships between metabolites and pathways and the most important recent advances and opportunities for future research directions are given.}, }
@article {pmid29532721, year = {2018}, author = {Hellström, S}, title = {Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.}, journal = {Acta oto-laryngologica}, volume = {138}, number = {3}, pages = {329-338}, doi = {10.1080/00016489.2018.1438162}, pmid = {29532721}, issn = {1651-2251}, mesh = {China/epidemiology ; Connexin 26 ; Connexins/genetics/*history ; DNA Mutational Analysis/history ; Deafness/epidemiology/genetics/*history ; History, 21st Century ; Humans ; Mutation ; Otolaryngology/*history ; Periodicals as Topic/history ; Prevalence ; }, }
@article {pmid29531053, year = {2018}, author = {Valdiosera, C and Günther, T and Vera-Rodríguez, JC and Ureña, I and Iriarte, E and Rodríguez-Varela, R and Simões, LG and Martínez-Sánchez, RM and Svensson, EM and Malmström, H and Rodríguez, L and Bermúdez de Castro, JM and Carbonell, E and Alday, A and Hernández Vera, JA and Götherström, A and Carretero, JM and Arsuaga, JL and Smith, CI and Jakobsson, M}, title = {Four millennia of Iberian biomolecular prehistory illustrate the impact of prehistoric migrations at the far end of Eurasia.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {13}, pages = {3428-3433}, pmid = {29531053}, issn = {1091-6490}, mesh = {Archaeology ; DNA/*analysis/genetics ; Europe ; Farmers/*history ; Genetic Variation ; *Genetics, Population ; *Genome, Human ; Genomics/*methods ; High-Throughput Nucleotide Sequencing ; History, Ancient ; Human Migration/*history ; Humans ; }, abstract = {Population genomic studies of ancient human remains have shown how modern-day European population structure has been shaped by a number of prehistoric migrations. The Neolithization of Europe has been associated with large-scale migrations from Anatolia, which was followed by migrations of herders from the Pontic steppe at the onset of the Bronze Age. Southwestern Europe was one of the last parts of the continent reached by these migrations, and modern-day populations from this region show intriguing similarities to the initial Neolithic migrants. Partly due to climatic conditions that are unfavorable for DNA preservation, regional studies on the Mediterranean remain challenging. Here, we present genome-wide sequence data from 13 individuals combined with stable isotope analysis from the north and south of Iberia covering a four-millennial temporal transect (7,500-3,500 BP). Early Iberian farmers and Early Central European farmers exhibit significant genetic differences, suggesting two independent fronts of the Neolithic expansion. The first Neolithic migrants that arrived in Iberia had low levels of genetic diversity, potentially reflecting a small number of individuals; this diversity gradually increased over time from mixing with local hunter-gatherers and potential population expansion. The impact of post-Neolithic migrations on Iberia was much smaller than for the rest of the continent, showing little external influence from the Neolithic to the Bronze Age. Paleodietary reconstruction shows that these populations have a remarkable degree of dietary homogeneity across space and time, suggesting a strong reliance on terrestrial food resources despite changing culture and genetic make-up.}, }
@article {pmid29466337, year = {2018}, author = {Olalde, I and Brace, S and Allentoft, ME and Armit, I and Kristiansen, K and Booth, T and Rohland, N and Mallick, S and Szécsényi-Nagy, A and Mittnik, A and Altena, E and Lipson, M and Lazaridis, I and Harper, TK and Patterson, N and Broomandkhoshbacht, N and Diekmann, Y and Faltyskova, Z and Fernandes, D and Ferry, M and Harney, E and de Knijff, P and Michel, M and Oppenheimer, J and Stewardson, K and Barclay, A and Alt, KW and Liesau, C and Ríos, P and Blasco, C and Miguel, JV and García, RM and Fernández, AA and Bánffy, E and Bernabò-Brea, M and Billoin, D and Bonsall, C and Bonsall, L and Allen, T and Büster, L and Carver, S and Navarro, LC and Craig, OE and Cook, GT and Cunliffe, B and Denaire, A and Dinwiddy, KE and Dodwell, N and Ernée, M and Evans, C and Kuchařík, M and Farré, JF and Fowler, C and Gazenbeek, M and Pena, RG and Haber-Uriarte, M and Haduch, E and Hey, G and Jowett, N and Knowles, T and Massy, K and Pfrengle, S and Lefranc, P and Lemercier, O and Lefebvre, A and Martínez, CH and Olmo, VG and Ramírez, AB and Maurandi, JL and Majó, T and McKinley, JI and McSweeney, K and Mende, BG and Modi, A and Kulcsár, G and Kiss, V and Czene, A and Patay, R and Endrődi, A and Köhler, K and Hajdu, T and Szeniczey, T and Dani, J and Bernert, Z and Hoole, M and Cheronet, O and Keating, D and Velemínský, P and Dobeš, M and Candilio, F and Brown, F and Fernández, RF and Herrero-Corral, AM and Tusa, S and Carnieri, E and Lentini, L and Valenti, A and Zanini, A and Waddington, C and Delibes, G and Guerra-Doce, E and Neil, B and Brittain, M and Luke, M and Mortimer, R and Desideri, J and Besse, M and Brücken, G and Furmanek, M and Hałuszko, A and Mackiewicz, M and Rapiński, A and Leach, S and Soriano, I and Lillios, KT and Cardoso, JL and Pearson, MP and Włodarczak, P and Price, TD and Prieto, P and Rey, PJ and Risch, R and Rojo Guerra, MA and Schmitt, A and Serralongue, J and Silva, AM and Smrčka, V and Vergnaud, L and Zilhão, J and Caramelli, D and Higham, T and Thomas, MG and Kennett, DJ and Fokkens, H and Heyd, V and Sheridan, A and Sjögren, KG and Stockhammer, PW and Krause, J and Pinhasi, R and Haak, W and Barnes, I and Lalueza-Fox, C and Reich, D}, title = {The Beaker phenomenon and the genomic transformation of northwest Europe.}, journal = {Nature}, volume = {555}, number = {7695}, pages = {190-196}, pmid = {29466337}, issn = {1476-4687}, support = {//Wellcome Trust/United Kingdom ; R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; }, mesh = {Chromosomes, Human, Y/genetics ; Cultural Evolution/*history ; DNA, Ancient ; Europe ; Gene Pool ; Genetics, Population ; Genome, Human/*genetics ; *Genomics ; Haplotypes ; History, Ancient ; Human Migration/*history ; Humans ; Male ; Spatio-Temporal Analysis ; }, abstract = {From around 2750 to 2500 bc, Bell Beaker pottery became widespread across western and central Europe, before it disappeared between 2200 and 1800 bc. The forces that propelled its expansion are a matter of long-standing debate, and there is support for both cultural diffusion and migration having a role in this process. Here we present genome-wide data from 400 Neolithic, Copper Age and Bronze Age Europeans, including 226 individuals associated with Beaker-complex artefacts. We detected limited genetic affinity between Beaker-complex-associated individuals from Iberia and central Europe, and thus exclude migration as an important mechanism of spread between these two regions. However, migration had a key role in the further dissemination of the Beaker complex. We document this phenomenon most clearly in Britain, where the spread of the Beaker complex introduced high levels of steppe-related ancestry and was associated with the replacement of approximately 90% of Britain's gene pool within a few hundred years, continuing the east-to-west expansion that had brought steppe-related ancestry into central and northern Europe over the previous centuries.}, }
@article {pmid29466330, year = {2018}, author = {Mathieson, I and Alpaslan-Roodenberg, S and Posth, C and Szécsényi-Nagy, A and Rohland, N and Mallick, S and Olalde, I and Broomandkhoshbacht, N and Candilio, F and Cheronet, O and Fernandes, D and Ferry, M and Gamarra, B and Fortes, GG and Haak, W and Harney, E and Jones, E and Keating, D and Krause-Kyora, B and Kucukkalipci, I and Michel, M and Mittnik, A and Nägele, K and Novak, M and Oppenheimer, J and Patterson, N and Pfrengle, S and Sirak, K and Stewardson, K and Vai, S and Alexandrov, S and Alt, KW and Andreescu, R and Antonović, D and Ash, A and Atanassova, N and Bacvarov, K and Gusztáv, MB and Bocherens, H and Bolus, M and Boroneanţ, A and Boyadzhiev, Y and Budnik, A and Burmaz, J and Chohadzhiev, S and Conard, NJ and Cottiaux, R and Čuka, M and Cupillard, C and Drucker, DG and Elenski, N and Francken, M and Galabova, B and Ganetsovski, G and Gély, B and Hajdu, T and Handzhyiska, V and Harvati, K and Higham, T and Iliev, S and Janković, I and Karavanić, I and Kennett, DJ and Komšo, D and Kozak, A and Labuda, D and Lari, M and Lazar, C and Leppek, M and Leshtakov, K and Vetro, DL and Los, D and Lozanov, I and Malina, M and Martini, F and McSweeney, K and Meller, H and Menđušić, M and Mirea, P and Moiseyev, V and Petrova, V and Price, TD and Simalcsik, A and Sineo, L and Šlaus, M and Slavchev, V and Stanev, P and Starović, A and Szeniczey, T and Talamo, S and Teschler-Nicola, M and Thevenet, C and Valchev, I and Valentin, F and Vasilyev, S and Veljanovska, F and Venelinova, S and Veselovskaya, E and Viola, B and Virag, C and Zaninović, J and Zäuner, S and Stockhammer, PW and Catalano, G and Krauß, R and Caramelli, D and Zariņa, G and Gaydarska, B and Lillie, M and Nikitin, AG and Potekhina, I and Papathanasiou, A and Borić, D and Bonsall, C and Krause, J and Pinhasi, R and Reich, D}, title = {The genomic history of southeastern Europe.}, journal = {Nature}, volume = {555}, number = {7695}, pages = {197-203}, pmid = {29466330}, issn = {1476-4687}, support = {/HHMI_/Howard Hughes Medical Institute/United States ; 263441/ERC_/European Research Council/International ; R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; }, mesh = {Agriculture/history ; Asia/ethnology ; DNA, Ancient ; Europe ; Farmers/*history ; Female ; Genetics, Population ; Genome, Human/*genetics ; *Genomics ; Grassland ; History, Ancient ; Human Migration/*history ; Humans ; Male ; Sex Distribution ; }, abstract = {Farming was first introduced to Europe in the mid-seventh millennium bc, and was associated with migrants from Anatolia who settled in the southeast before spreading throughout Europe. Here, to understand the dynamics of this process, we analysed genome-wide ancient DNA data from 225 individuals who lived in southeastern Europe and surrounding regions between 12000 and 500 bc. We document a west-east cline of ancestry in indigenous hunter-gatherers and, in eastern Europe, the early stages in the formation of Bronze Age steppe ancestry. We show that the first farmers of northern and western Europe dispersed through southeastern Europe with limited hunter-gatherer admixture, but that some early groups in the southeast mixed extensively with hunter-gatherers without the sex-biased admixture that prevailed later in the north and west. We also show that southeastern Europe continued to be a nexus between east and west after the arrival of farmers, with intermittent genetic contact with steppe populations occurring up to 2,000 years earlier than the migrations from the steppe that ultimately replaced much of the population of northern Europe.}, }
@article {pmid29446559, year = {2018}, author = {Wynn, T and Gowlett, J}, title = {The handaxe reconsidered.}, journal = {Evolutionary anthropology}, volume = {27}, number = {1}, pages = {21-29}, doi = {10.1002/evan.21552}, pmid = {29446559}, issn = {1520-6505}, mesh = {Animals ; Archaeology ; Ergonomics/*history ; Esthetics/*history ; History, Ancient ; Hominidae/*physiology ; Technology/*history ; Tool Use Behavior/*physiology ; }, abstract = {The Acheulean handaxe is one of the longest-known and longest-surviving artifacts of the Palaeolithic and, despite its experimentally tested functionality, is often regarded as puzzling. It is unnecessary to invoke a unique-for-mammals genetic mechanism to explain the handaxe phenomenon. Instead, we propose that two nongenetic processes are sufficient. The first is a set of ergonomic design principles linked to the production of sturdy, hand-held cutting tools in the context of a knapped-stone technology that lacked hafting. The second is an esthetic preference for regular forms with gradual curves and pleasing proportions. Neither process is a cultural meme but, operating together in a cultural context, they can account for all of the supposedly puzzling time-space patterns presented by handaxes.}, }
@article {pmid29414976, year = {2017}, author = {Martín, R&#xc1;}, title = {Profesor Dr. Marshall Raymond Urist (1914-2001): descubridor de la formación ósea por inducción.}, journal = {Gaceta medica de Mexico}, volume = {153}, number = {7}, pages = {946-951}, doi = {10.24875/GMM.17002973}, pmid = {29414976}, issn = {0016-3813}, mesh = {*Bone Development ; Bone Morphogenetic Proteins/*history ; California ; Cell Differentiation ; History, 20th Century ; History, 21st Century ; Orthopedics/*history ; United States ; }, abstract = {Marshall R. Urist was an American orthopedic surgeon who worked in University of California at Los Angeles. His scientific work about bone formation brought to medical science the discovery of a bone growth inductor substance known as bone morphogenetic protein in 1965. The protein today is a recombinant genetically produced substance which helps to regenerate connective tissues and stimulates non specialized cells to transform in to osteoblastic cell lineage. This biographical document about Urist reviews his life, career, classic scientific papers and those landmark contributions to medical science.}, }
@article {pmid29362783, year = {2018}, author = {}, title = {Predetermination of Sex.}, journal = {JAMA}, volume = {319}, number = {4}, pages = {413}, doi = {10.1001/jama.2017.12215}, pmid = {29362783}, issn = {1538-3598}, mesh = {Animals ; Biomedical Research/history ; Drosophila melanogaster/*genetics/physiology ; Female ; Genotype ; History, 20th Century ; Humans ; Male ; Reproductive Physiological Phenomena ; Sex Chromosomes ; *Sex Determination Processes ; Sex Ratio ; }, }
@article {pmid29348210, year = {2018}, author = {Lerner, E and Cordes, T and Ingargiola, A and Alhadid, Y and Chung, S and Michalet, X and Weiss, S}, title = {Toward dynamic structural biology: Two decades of single-molecule Förster resonance energy transfer.}, journal = {Science (New York, N.Y.)}, volume = {359}, number = {6373}, pages = {}, pmid = {29348210}, issn = {1095-9203}, support = {R01 GM069709/GM/NIGMS NIH HHS/United States ; R01 GM095904/GM/NIGMS NIH HHS/United States ; }, mesh = {Fluorescence Resonance Energy Transfer/history/*methods ; History, 20th Century ; History, 21st Century ; Molecular Biology/trends ; *Nucleic Acid Conformation ; *Protein Conformation ; Single Molecule Imaging/history/*methods ; }, abstract = {Classical structural biology can only provide static snapshots of biomacromolecules. Single-molecule Förster resonance energy transfer (smFRET) paved the way for studying dynamics in macromolecular structures under biologically relevant conditions. Since its first implementation in 1996, smFRET experiments have confirmed previously hypothesized mechanisms and provided new insights into many fundamental biological processes, such as DNA maintenance and repair, transcription, translation, and membrane transport. We review 22 years of contributions of smFRET to our understanding of basic mechanisms in biochemistry, molecular biology, and structural biology. Additionally, building on current state-of-the-art implementations of smFRET, we highlight possible future directions for smFRET in applications such as biosensing, high-throughput screening, and molecular diagnostics.}, }
@article {pmid29315301, year = {2018}, author = {Günther, T and Malmström, H and Svensson, EM and Omrak, A and Sánchez-Quinto, F and Kılınç, GM and Krzewińska, M and Eriksson, G and Fraser, M and Edlund, H and Munters, AR and Coutinho, A and Simões, LG and Vicente, M and Sjölander, A and Jansen Sellevold, B and Jørgensen, R and Claes, P and Shriver, MD and Valdiosera, C and Netea, MG and Apel, J and Lidén, K and Skar, B and Storå, J and Götherström, A and Jakobsson, M}, title = {Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.}, journal = {PLoS biology}, volume = {16}, number = {1}, pages = {e2003703}, pmid = {29315301}, issn = {1545-7885}, mesh = {Adaptation, Physiological/*physiology ; Europe ; Female ; Fossils ; Genetic Variation ; Genetics, Population/methods ; History, Ancient ; Human Migration/*history ; Humans ; Male ; Membrane Proteins/genetics/metabolism ; Metagenomics/methods ; Pigmentation/genetics ; Scandinavian and Nordic Countries/ethnology ; White People/*genetics ; }, abstract = {Scandinavia was one of the last geographic areas in Europe to become habitable for humans after the Last Glacial Maximum (LGM). However, the routes and genetic composition of these postglacial migrants remain unclear. We sequenced the genomes, up to 57× coverage, of seven hunter-gatherers excavated across Scandinavia and dated from 9,500-6,000 years before present (BP). Surprisingly, among the Scandinavian Mesolithic individuals, the genetic data display an east-west genetic gradient that opposes the pattern seen in other parts of Mesolithic Europe. Our results suggest two different early postglacial migrations into Scandinavia: initially from the south, and later, from the northeast. The latter followed the ice-free Norwegian north Atlantic coast, along which novel and advanced pressure-blade stone-tool techniques may have spread. These two groups met and mixed in Scandinavia, creating a genetically diverse population, which shows patterns of genetic adaptation to high latitude environments. These potential adaptations include high frequencies of low pigmentation variants and a gene region associated with physical performance, which shows strong continuity into modern-day northern Europeans.}, }
@article {pmid29299963, year = {2017}, author = {Vukelic, A and Cohen, JA and Sullivan, AP and Perry, GH}, title = {Extending Genome-Wide Association Study Results to Test Classic Anthropological Hypotheses: Human Third Molar Agenesis and the "Probable Mutation Effect".}, journal = {Human biology}, volume = {89}, number = {2}, pages = {157-169}, doi = {10.13110/humanbiology.89.2.03}, pmid = {29299963}, issn = {1534-6617}, mesh = {Adult ; Animals ; Anodontia/*epidemiology/history ; Anthropology/history ; Biological Evolution ; Brain/anatomy &amp; histology ; Facial Bones/anatomy &amp; histology ; Genetics, Population/history ; Genome-Wide Association Study/*methods ; Genomics/methods ; History, Ancient ; Hominidae/genetics ; Humans ; Japan/epidemiology ; Molar, Third/*abnormalities ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Probability ; Republic of Korea/epidemiology ; Tooth, Impacted/*genetics ; }, abstract = {A genome-wide association study (GWAS) identifies regions of the genome that likely affect the variable state of a phenotype of interest. These regions can then be studied with population genetic methods to make inferences about the evolutionary history of the trait. There are increasing opportunities to use GWAS results-even from clinically motivated studies-for tests of classic anthropological hypotheses. One such example, presented here as a case study for this approach, involves tooth development variation related to dental crowding. Specifically, more than 10% of humans fail to develop one or more permanent third molars (M3 agenesis). M3 presence/absence variation within human populations has a significant genetic component (heritability estimate h [2] = 0.47). The evolutionary significance of M3 agenesis has a long history of anthropological speculation. First, the modern frequency of M3 agenesis could reflect a relaxation of selection pressure to retain larger and more teeth following the origins of cooking and other food-softening behaviors (i.e., the genetic drift hypothesis or, classically, the "probable mutation effect"). Alternatively, commensurate with increasing hominin brain size and facial shortening, M3 agenesis may have conferred an adaptive fitness advantage if it reduced the risk of M3 impaction and potential health complications (i.e., the positive selection hypothesis). A recent GWAS identified 70 genetic loci that may play a role in human M3 presence/absence variation. To begin evaluating the contrasting evolutionary scenarios for M3 agenesis, we used the integrated haplotype score (iHS) statistic to test whether those 70 genetic regions are enriched for genomic signatures of recent positive selection. None of our findings are inconsistent with the null hypothesis of genetic drift to explain the high prevalence of human M3 agenesis. This result might suggest that M3 impaction rates for modern humans do not accurately retrodict those of the preagricultural past. Alternatively, the absence of support for the positive selection hypothesis could reflect a lack of power; this analysis should be repeated following the completion of more comprehensive GWAS analyses for human M3 agenesis.}, }
@article {pmid29297395, year = {2017}, author = {Triska, P and Chekanov, N and Stepanov, V and Khusnutdinova, EK and Kumar, GPA and Akhmetova, V and Babalyan, K and Boulygina, E and Kharkov, V and Gubina, M and Khidiyatova, I and Khitrinskaya, I and Khrameeva, EE and Khusainova, R and Konovalova, N and Litvinov, S and Marusin, A and Mazur, AM and Puzyrev, V and Ivanoshchuk, D and Spiridonova, M and Teslyuk, A and Tsygankova, S and Triska, M and Trofimova, N and Vajda, E and Balanovsky, O and Baranova, A and Skryabin, K and Tatarinova, TV and Prokhortchouk, E}, title = {Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe.}, journal = {BMC genetics}, volume = {18}, number = {Suppl 1}, pages = {110}, pmid = {29297395}, issn = {1471-2156}, mesh = {Algorithms ; Asia ; DNA ; Datasets as Topic ; Emigration and Immigration/*history ; Ethnicity/*genetics ; Europe ; Female ; Genetic Variation ; *Genetics, Population ; Genotyping Techniques ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; History, Medieval ; Humans ; Male ; Russia ; }, abstract = {BACKGROUND: The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralic-speaking migrants as well as eastward by Europeans. Unfortunately, the material records of history of this region are not dense enough to reconstruct details of population history. These considerations stimulate growing interest to obtain a genetic picture of the demographic history of migrations and admixture in Northern Eurasia.<br><br>RESULTS: We genotyped and analyzed 1076 individuals from 30 populations with geographical coverage spanning from Baltic Sea to Baikal Lake. Our dense sampling allowed us to describe in detail the population structure, provide insight into genomic history of numerous European and Asian populations, and significantly increase quantity of genetic data available for modern populations in region of North Eurasia. Our study doubles the amount of genome-wide profiles available for this region. We detected unusually high amount of shared identical-by-descent (IBD) genomic segments between several Siberian populations, such as Khanty and Ket, providing evidence of genetic relatedness across vast geographic distances and between speakers of different language families. Additionally, we observed excessive IBD sharing between Khanty and Bashkir, a group of Turkic speakers from Southern Urals region. While adding some weight to the "Finno-Ugric" origin of Bashkir, our studies highlighted that the Bashkir genepool lacks the main "core", being a multi-layered amalgamation of Turkic, Ugric, Finnish and Indo-European contributions, which points at intricacy of genetic interface between Turkic and Uralic populations. Comparison of the genetic structure of Siberian ethnicities and the geography of the region they inhabit point at existence of the "Great Siberian Vortex" directing genetic exchanges in populations across the Siberian part of Asia. Slavic speakers of Eastern Europe are, in general, very similar in their genetic composition. Ukrainians, Belarusians and Russians have almost identical proportions of Caucasus and Northern European components and have virtually no Asian influence. We capitalized on wide geographic span of our sampling to address intriguing question about the place of origin of Russian Starovers, an enigmatic Eastern Orthodox Old Believers religious group relocated to Siberia in seventeenth century. A comparative reAdmix analysis, complemented by IBD sharing, placed their roots in the region of the Northern European Plain, occupied by North Russians and Finno-Ugric Komi and Karelian people. Russians from Novosibirsk and Russian Starover exhibit ancestral proportions close to that of European Eastern Slavs, however, they also include between five to 10 % of Central Siberian ancestry, not present at this level in their European counterparts.<br><br>CONCLUSIONS: Our project has patched the hole in the genetic map of Eurasia: we demonstrated complexity of genetic structure of Northern Eurasians, existence of East-West and North-South genetic gradients, and assessed different inputs of ancient populations into modern populations.}, }
@article {pmid29293741, year = {2017}, author = {Collier, RJ and Bauman, DE}, title = {TRIENNIAL LACTATION SYMPOSIUM/BOLFA:Historical perspectives of lactation biology in the late 20th and early 21st centuries.}, journal = {Journal of animal science}, volume = {95}, number = {12}, pages = {5639-5652}, pmid = {29293741}, issn = {1525-3163}, mesh = {Animals ; Cattle/genetics/*physiology ; Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; *Lactation ; Mammary Glands, Animal/physiology ; Metabolomics/*history ; Milk/*chemistry/metabolism ; Systems Biology/*history ; }, abstract = {The latter half of the 20th century and the early portion of the 21st century will be recognized as the "Golden Age" of lactation biology. This period corresponded with the rise of systemic, metabolomic, molecular, and genomic biology. It includes the discovery of the structure of DNA and ends with the sequencing of the complete genomes of humans and all major domestic animal species including the dairy cow. This included the ability to identify polymorphisms in the nucleic acid sequence, which can be tied to specific differences in cellular, tissue, and animal performance. Before this period, classical work using endocrine ablation and replacement studies identified the mammary gland as an endocrine-dependent organ. In the early 1960s, the development of RIA and radioreceptor assays permitted the study of the relationship between endocrine patterns and mammary function. The ability to measure nucleic acid content of tissues opened the door to study of the factors regulating mammary growth. The development of high-speed centrifugation in the 1960s allowed separation of specific cell organelles and their membranes. The development of transmission and scanning electron microscopy permitted the study of the relationship between structure and function in the mammary secretory cell. The availability of radiolabeled metabolites provided the opportunity to investigate the metabolic pathways and their regulation. The development of concepts regarding the coordination of metabolism to support lactation integrated our understanding of nutrient partitioning and homeostasis. The ability to produce recombinant molecules and organisms permitted enhancement of lactation in farm animal species and the production of milk containing proteins of value to human medicine. These discoveries and others contributed to vastly increased dairy farm productivity in the United States and worldwide. This review will include the discussion of the centers of excellence and scientists who labored in these fields to produce the harvest of knowledge we enjoy today.}, }
@article {pmid29283633, year = {2017}, author = {}, title = {Award for Distinguished Scientific Early Career Contributions to Psychology: Kathryn Paige Harden.}, journal = {The American psychologist}, volume = {72}, number = {9}, pages = {898-900}, doi = {10.1037/amp0000271}, pmid = {29283633}, issn = {1935-990X}, mesh = {*Awards and Prizes ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Human Development ; Humans ; Psychology/*history ; United States ; }, abstract = {The APA Awards for Distinguished Scientific Early Career Contributions to Psychology recognize psychologists who have demonstrated excellence early in their careers and have held a doctoral degree for no more than 9 years. One of the 2017 award winners is Kathryn Paige Harden, for demonstrating "how to integrate genetic knowledge with the classical clinical and developmental insights into human behavior." Harden's award citation, biography, and a selected bibliography are presented here. (PsycINFO Database Record}, }
@article {pmid29277272, year = {2018}, author = {Carter, AM}, title = {Classics revisited: Miguel Fernández on germ layer inversion and specific polyembryony in armadillos.}, journal = {Placenta}, volume = {61}, number = {}, pages = {55-60}, doi = {10.1016/j.placenta.2017.11.006}, pmid = {29277272}, issn = {1532-3102}, mesh = {Anatomy, Comparative/*history ; Animals ; Argentina ; Armadillos/*embryology/growth &amp; development/physiology ; Embryology/*history ; *Embryonic Development ; Extraembryonic Membranes/cytology/embryology/physiology ; Female ; Genetic Research/history ; Germ Layers/cytology/*embryology/physiology ; History, 20th Century ; Male ; Placentation ; Pregnancy ; Species Specificity ; *Twinning, Monozygotic ; Yolk Sac/cytology/embryology/physiology ; Zoology/*history ; }, abstract = {BACKGROUND: Miguel Fernández was an Argentinian zoologist who published the first account of obligate polyembryony in armadillos. His contribution is here discussed in relation to his contemporaries, Newman and Patterson, and more recent work.<br><br>FINDINGS: Fernandez worked on the mulita (Dasypus hybridus). He was able to get early stages before twinning occurred and show it was preceded by inversion of the germ layers. By the primitive streak stage there were separate embryonic shields and partition of the amnion. There was, however, a single exocoelom and all embryos were enclosed in a common set of membranes comprising chorion towards the attachment site in the uterine fundus and inverted yolk sac on the opposite face. He showed that monozygotic twinning did not occur in another armadillo, the peludo (Chaetophractus villosus).<br><br>CONCLUSIONS: Fern&#xe1;ndez's work represented a major breakthrough in understanding how twinning occurred in armadillos. His work and that of others is of intrinsic interest to zoologists and has a direct bearing on the origin of monozygotic twins and birth defects in humans.}, }
@article {pmid29255087, year = {2018}, author = {Bennett, JC and Hood, LE and Dreyer, WJ and Potter, M}, title = {Pillars Article: Evidence for Amino Acid Sequence Differences among Proteins Resembling the L-chain Subunits of Immunoglobulins. J. Mol. Biol. 1965. 12: 81-87.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {200}, number = {1}, pages = {27-37}, pmid = {29255087}, issn = {1550-6606}, mesh = {Allergy and Immunology/*history ; Amino Acid Sequence ; Animals ; Binding Sites/*genetics ; Hematologic Neoplasms/*immunology ; History, 20th Century ; Immunoglobulin Light Chains/*genetics/metabolism ; Mice ; Mice, Inbred BALB C ; Plasma Cells/*physiology ; }, }
@article {pmid29237884, year = {2017}, author = {Sarkar, S}, title = {Haldane's The causes of evolution and the Modern Synthesis in evolutionary biology.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {753-763}, pmid = {29237884}, issn = {0973-7731}, mesh = {Animals ; *Biological Evolution ; Drosophila/*genetics ; History, 20th Century ; Humans ; *Models, Genetic ; Sex Chromosomes/*genetics ; }, abstract = {This paper argues that Haldane's The causes of evolution was the most important founding document in the emergence of the received view of evolutionary theory which is typically referred to as the Modern Synthesis. Whether or not this historical development is characterized as a synthesis (which remains controversial), this paper argues the most important component of the emergence of the received view consisted of showing how the formal rules of Mendelian inheritance are based on (or emerge from) the material basis of heredity established by classical genetics primarily through the experimental work on Drosophila genetics of the Morgan school in the 1910s and 1920s. This is one of the most important achievements of Haldane's book. Thus this paper rejects both (i) the view that the synthesis was a unification of biometry and Mendelism and (ii) the claim that it arose from work primarily done in the late 1930s and 1940s by naturalists rather than theoretical population and classical experimental geneticists.}, }
@article {pmid29219655, year = {2018}, author = {Hill, MA}, title = {Track to the future: historical perspective on the importance of radiation track structure and DNA as a radiobiological target.}, journal = {International journal of radiation biology}, volume = {94}, number = {8}, pages = {759-768}, pmid = {29219655}, issn = {1362-3095}, support = {MC_U142760473/MRC_/Medical Research Council/United Kingdom ; MC-PC-12004/MRC_/Medical Research Council/United Kingdom ; }, mesh = {DNA/*genetics ; DNA Damage ; History, 20th Century ; History, 21st Century ; Humans ; Radiobiology/*history ; }, abstract = {PURPOSE: Understanding the mechanisms behind induced biological response following exposure to ionizing radiation is not only important in assessing the risk associated with human exposure, but potentially can help identify ways of improving the efficacy of radiotherapy. Over the decades, there has been much discussion on what is the key biological target for radiation action and its associated size. It was already known in the 1930s that microscopic features of radiation significantly influenced biological outcomes. This resulted in the development of classic target theory, leading to field of microdosimetry and subsequently nanodosimetry, studying the inhomogeneity and stochastics of interactions, along with the identification of DNA as a key target.<br><br>CONCLUSIONS: Ultimately, the biological response has been found to be dependent on the radiation track structure (spatial and temporal distribution of ionization and excitation events). Clustering of energy deposition on the nanometer scale has been shown to play a critical role in determining biological response, producing not just simple isolated DNA lesions but also complex clustered lesions that are more difficult to repair. The frequency and complexity of these clustered damage sites are typically found to increase with increasing LET. However in order to fully understand the consequences, it is important to look at the relative distribution of these lesions over larger dimensions along the radiation track, up to the micrometer scale. Correlation of energy deposition events and resulting sites of DNA damage can ultimately result in complex gene mutations and complex chromosome rearrangements following repair, with the frequency and spectrum of the resulting rearrangements critically dependent on the spatial and temporal distribution of these sites and therefore the radiation track. Due to limitations in the techniques used to identify these rearrangements it is likely that the full complexity of the genetic rearrangements that occur has yet to be revealed. This paper discusses these issues from a historical perspective, with many of these historical studies still having relevance today. These can not only cast light on current studies but guide future studies, especially with the increasing range of biological techniques available. So, let us build on past knowledge to effectively explore the future.}, }
@article {pmid29219108, year = {2017}, author = {Villalba, J and Navarro, FA and Cortés, F}, title = {Origin, History, and Meanings of the Word Transmission.}, journal = {Microbiology spectrum}, volume = {5}, number = {6}, pages = {}, doi = {10.1128/microbiolspec.MTBP-0004-2016}, pmid = {29219108}, issn = {2165-0497}, mesh = {Biology/*history ; Disease Transmission, Infectious/history ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; History, Medieval ; Humans ; *Language ; Natural Science Disciplines/history ; *Terminology as Topic ; }, abstract = {The origin of the words transmit and transmission and their derivatives can be traced to the Latin transmittere, in turn formed by prefixing the preposition trans ("across or beyond") to the verb mittere ("to let go or to send"). From the times of Ancient Rome in the 3rd century b.c.e., the Latin word transmissio has been "transmitted" (through Romance languages such as French, Italian, Spanish, and Portuguese) to all the major languages of culture, English among them. And through English, the international language of biomedical science in the 21st century, the term transmission is increasingly present today in some of the most dynamic disciplines of modern natural science, including genomics, molecular microbiology, hospital epidemiology, molecular genetics, biotechnology, evolutionary biology, and systems biology.}, }
@article {pmid29203698, year = {2017}, author = {Kingsley, DM}, title = {Beautiful Piles of Bones: An Interview with 2017 Genetics Society of America Medal Recipient David M. Kingsley.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1221-1222}, doi = {10.1534/genetics.117.300415}, pmid = {29203698}, issn = {1943-2631}, mesh = {Animals ; Awards and Prizes ; *Biological Evolution ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Mutation ; Skeleton/*growth &amp; development ; Smegmamorpha/genetics ; }, abstract = {The Genetics Society of America Medal is awarded to an individual for outstanding contributions to the field of genetics in the last 15 years. Recipients of the GSA Medal are recognized for elegant and highly meaningful contributions to modern genetics, exemplifying the ingenuity of GSA membership. The 2017 recipient is David M. Kingsley, whose work in mouse, sticklebacks, and humans has shifted paradigms about how vertebrates evolve. Kingsley first fell in love with genetics in graduate school, where he worked on receptor mediated endocytosis with Monty Krieger. In his postdoctoral training he was able to unite genetics with his first scientific love: vertebrate morphology. He joined the group of Neal Copeland and Nancy Jenkins, where he led efforts to map the classical mouse skeletal mutation short ear Convinced that experimental genetics had a unique power to reveal the inner workings of evolution, Kingsley then established the stickleback fish as an extraordinarily productive model of quantitative trait evolution in wild species. He and his colleagues revealed many important insights, including the discoveries that major morphological differences can map to key loci with large effects, that regulatory changes in essential developmental control genes have produced advantageous new traits, and that nature has selected the same genes over and over again to drive the stickleback's skeletal evolution. Recently, Kingsley's group has been using these lessons to reveal more about how our own species evolved.This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/kingsley/.}, }
@article {pmid29167366, year = {2017}, author = {Kılınç, GM and Koptekin, D and Atakuman, &#xc7; and Sümer, AP and Dönertaş, HM and Yaka, R and Bilgin, CC and Büyükkarakaya, AM and Baird, D and Altınışık, E and Flegontov, P and Götherström, A and Togan, &#x130; and Somel, M}, title = {Archaeogenomic analysis of the first steps of Neolithization in Anatolia and the Aegean.}, journal = {Proceedings. Biological sciences}, volume = {284}, number = {1867}, pages = {}, pmid = {29167366}, issn = {1471-2954}, mesh = {Agriculture/*history ; Archaeology ; Farmers/history ; *Gene Flow ; *Genome, Human ; Genomics ; Greece ; History, Ancient ; Human Migration/*history ; Humans ; Turkey ; }, abstract = {The Neolithic transition in west Eurasia occurred in two main steps: the gradual development of sedentism and plant cultivation in the Near East and the subsequent spread of Neolithic cultures into the Aegean and across Europe after 7000 cal BCE. Here, we use published ancient genomes to investigate gene flow events in west Eurasia during the Neolithic transition. We confirm that the Early Neolithic central Anatolians in the ninth millennium BCE were probably descendants of local hunter-gatherers, rather than immigrants from the Levant or Iran. We further study the emergence of post-7000 cal BCE north Aegean Neolithic communities. Although Aegean farmers have frequently been assumed to be colonists originating from either central Anatolia or from the Levant, our findings raise alternative possibilities: north Aegean Neolithic populations may have been the product of multiple westward migrations, including south Anatolian emigrants, or they may have been descendants of local Aegean Mesolithic groups who adopted farming. These scenarios are consistent with the diversity of material cultures among Aegean Neolithic communities and the inheritance of local forager know-how. The demographic and cultural dynamics behind the earliest spread of Neolithic culture in the Aegean could therefore be distinct from the subsequent Neolithization of mainland Europe.}, }
@article {pmid29152643, year = {2017}, author = {González-Reimers, E and Castañeyra-Ruiz, M and Trujillo-Mederos, A and Arnay-de-la-Rosa, M}, title = {Differences in tibial shape among the Prehispanic inhabitants from Gomera, Punta Azul (El Hierro), and Gran Canaria (Canary Islands).}, journal = {Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur}, volume = {74}, number = {4}, pages = {309-319}, doi = {10.1127/anthranz/2017/0687}, pmid = {29152643}, issn = {0003-5548}, mesh = {Anthropology, Physical ; Female ; History, Ancient ; Humans ; Male ; Spain ; Tibia/*anatomy &amp; histology ; White People/*statistics &amp; numerical data ; }, abstract = {The Canary Archipelago was colonized by North African Berbers who arrived at the Islands in the first millenium BC. Although it was classically considered that the prehispanic population was more or less uniform, recent genetic analysis has disclosed that some differences did exist between inhabitants of the different islands. From pure anthropometrical point of view, detailed inspection of some bones such as tibiae of prehispanic inhabitants of different islands allow the detection of some differences in tibial shape, especially regarding the relative size of both the proximal and distal thirds of these bones. On this basis, we have elaborated and calculated several indexes combining distal and proximal breadth measurements that define the global shape of the tibia. We have compared these indexes among the prehispanic population of the three islands for which sex has been accurately established. Both men and women from La Gomera, and, especially, from El Hierro, showed thicker distal ends of the tibiae with respect to proximal ones, in contrast with the population of Gran Canaria. In addition, differences among male and female tibiae were more marked among the population of Gran Canaria than among those of Gomera and El Hierro. Differences in these indexes could point either to differences in genetical background or to differences in activity. Compared with single anthropometric measurements, these indices separate better the population of the different islands. Just the opposite was observed when logistic regression analysis was used to analyse differences in sex.}, }
@article {pmid29102860, year = {2018}, author = {Ioannou, S and Henneberg, RJ and Henneberg, M}, title = {Presence of dental signs of congenital syphilis in pre-modern specimens.}, journal = {Archives of oral biology}, volume = {85}, number = {}, pages = {192-200}, doi = {10.1016/j.archoralbio.2017.10.017}, pmid = {29102860}, issn = {1879-1506}, mesh = {Archaeology ; Austria ; History, Ancient ; History, Medieval ; Humans ; Italy ; Mexico ; Syphilis, Congenital/*complications/*history ; Tooth Abnormalities/*etiology/*history ; Turkey ; }, abstract = {OBJECTIVE: Tooth morphology can vary due to genetic factors, infectious diseases and other environmental stresses. Congenital syphilis is known to interrupt tooth formation i.e. odontogenesis and amelogenesis, producing specific dental characteristics. Variation of those characteristics can occur, resulting in dental signs "not typical" of the disease, however, they are described in the 19th century literature. Past treatments of congenital syphilis with mercury also interrupted dental processes resulting in significantly different dental signs. The aim of this study is to examine the dentition of the oldest (pre 15th century) cases attributed to congenital syphilis to determine whether their dental processes have been affected by either congenital syphilis itself, its treatments (mercury) or a combination of both (syphilitic-mercurial).<br><br>DESIGN: Comparisons of dental signs of congenital syphilis and its mercuric treatments as described by Hutchinson, Moon and Fournier in the 1800s and in standardised methods as established by modern studies, are made with the dentition of specimens found in archaeological sites in Mexico, Italy, Turkey and Austria dating back to the Terminal Formative Period, Classical Antiquity, Byzantine times and Middle Ages.<br><br>RESULTS: The dentitions of a child from Oaxaca, Mexico, St. P&#xf6;lten, Austria, and two juveniles from Classical Antiquity site Metaponto, Italy, show signs attributed to syphilis only. One adolescent from Byzantine site Nicaea, Turkey, shows dental signs characterised as syphilitic-mercurial.<br><br>CONCLUSIONS: Dental abnormalities observed in Mediterranean individuals match a range of signs attributable to congenital syphilis and its treatments, more so than the New World case. Therefore, it is likely that these individuals suffered from congenital syphilis.}, }
@article {pmid29033228, year = {2017}, author = {Nicoglou, A and Merlin, F}, title = {Epigenetics: A way to bridge the gap between biological fields.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {66}, number = {}, pages = {73-82}, doi = {10.1016/j.shpsc.2017.10.002}, pmid = {29033228}, issn = {1879-2499}, mesh = {Developmental Biology/history ; *Epigenesis, Genetic ; Epigenomics/*history ; Heredity ; History, 20th Century ; United Kingdom ; }, abstract = {The concept of epigenetics has evolved since Waddington defined it from the late 1930s as the study of the causal mechanisms at work in development. It has become a multi-faceted notion with different meanings, depending on the disciplinary context it is used. In this article, we first analyse the transformations of the concept of epigenetics, from Waddington to contemporary accounts, in order to identify its different meanings and traditions, and to come up with a typology of epigenetics throughout its history. Second, we show on this basis that epigenetics has progressively turned its main focus from biological problems regarding development, toward issues concerning evolution. Yet, both these different epistemological aspects of epigenetics still coexist. Third, we claim that the classical opposition between epigenesis and preformationism as ways of thinking about the developmental process is part of the history of epigenetics and has contributed to its current various meanings. With these objectives in mind, we first show how Waddington introduced the term "epigenetics" in a biological context in order to solve a developmental problem, and we then build on this by presenting Nanney's, Riggs' and Holliday's definitions, which form the basis for the current conception of "molecular epigenetics". Then, we show that the evo-devo research field is where some particular uses of epigenetics have started shifting from developmental issues to evolutionary problems. We also show that epigenetics has progressively focused on the issue of epigenetic inheritance within the Extended Evolutionary Synthesis' framework. Finally, we conclude by presenting a typology of the different conceptions of epigenetics throughout time, and analyse the connections between them. We argue that, since Waddington, epigenetics, as an integrative research area, has been used to bridge the gap between different biological fields.}, }
@article {pmid28993198, year = {2018}, author = {Griffiths, RC and Jenkins, PA and Spanò, D}, title = {Wright-Fisher diffusion bridges.}, journal = {Theoretical population biology}, volume = {122}, number = {}, pages = {67-77}, doi = {10.1016/j.tpb.2017.09.005}, pmid = {28993198}, issn = {1096-0325}, mesh = {Algorithms ; Alleles ; Bayes Theorem ; Computer Simulation ; *Gene Frequency ; Genealogy and Heraldry ; Genetic Drift ; *Genetics, Population ; Humans ; *Models, Genetic ; Mutation ; }, abstract = {The trajectory of the frequency of an allele which begins at x at time 0 and is known to have frequency z at time T can be modelled by the bridge process of the Wright-Fisher diffusion. Bridges when x=z=0 are particularly interesting because they model the trajectory of the frequency of an allele which appears at a time, then is lost by random drift or mutation after a time T. The coalescent genealogy back in time of a population in a neutral Wright-Fisher diffusion process is well understood. In this paper we obtain a new interpretation of the coalescent genealogy of the population in a bridge from a time t∈(0,T). In a bridge with allele frequencies of 0 at times 0 and T the coalescence structure is that the population coalesces in two directions from t to 0 and t to T such that there is just one lineage of the allele under consideration at times 0 and T. The genealogy in Wright-Fisher diffusion bridges with selection is more complex than in the neutral model, but still with the property of the population branching and coalescing in two directions from time t∈(0,T). The density of the frequency of an allele at time t is expressed in a way that shows coalescence in the two directions. A new algorithm for exact simulation of a neutral Wright-Fisher bridge is derived. This follows from knowing the density of the frequency in a bridge and exact simulation from the Wright-Fisher diffusion. The genealogy of the neutral Wright-Fisher bridge is also modelled by branching Pólya urns, extending a representation in a Wright-Fisher diffusion. This is a new very interesting representation that relates Wright-Fisher bridges to classical urn models in a Bayesian setting.}, }
@article {pmid28884802, year = {2017}, author = {Hedenstierna-Jonson, C and Kjellström, A and Zachrisson, T and Krzewińska, M and Sobrado, V and Price, N and Günther, T and Jakobsson, M and Götherström, A and Storå, J}, title = {A female Viking warrior confirmed by genomics.}, journal = {American journal of physical anthropology}, volume = {164}, number = {4}, pages = {853-860}, pmid = {28884802}, issn = {1096-8644}, mesh = {Adult ; Anthropology, Physical ; Burial/*history ; DNA/analysis/genetics ; Female ; Genomics ; History, Medieval ; Humans ; Military Personnel/*history ; Sweden/ethnology ; }, abstract = {OBJECTIVES: The objective of this study has been to confirm the sex and the affinity of an individual buried in a well-furnished warrior grave (Bj 581) in the Viking Age town of Birka, Sweden. Previously, based on the material and historical records, the male sex has been associated with the gender of the warrior and such was the case with Bj 581. An earlier osteological classification of the individual as female was considered controversial in a historical and archaeological context. A genomic confirmation of the biological sex of the individual was considered necessary to solve the issue.<br><br>MATERIALS AND METHODS: Genome-wide sequence data was generated in order to confirm the biological sex, to support skeletal integrity, and to investigate the genetic relationship of the individual to ancient individuals as well as modern-day groups. Additionally, a strontium isotope analysis was conducted to highlight the mobility of the individual.<br><br>RESULTS: The genomic results revealed the lack of a Y-chromosome and thus a female biological sex, and the mtDNA analyses support a single-individual origin of sampled elements. The genetic affinity is close to present-day North Europeans, and within Sweden to the southern and south-central region. Nevertheless, the Sr values are not conclusive as to whether she was of local or nonlocal origin.<br><br>DISCUSSION: The identification of a female Viking warrior provides a unique insight into the Viking society, social constructions, and exceptions to the norm in the Viking time-period. The results call for caution against generalizations regarding social orders in past societies.}, }
@article {pmid28833313, year = {2017}, author = {Boniek, D and de Castro Mendes, I and Paiva, CAO and de Paula Lana, UG and Dos Santos, AFB and de Resende Stoianoff, MA}, title = {Ecology and identification of environmental fungi and metabolic processes involved in the biodeterioration of Brazilian soapstone historical monuments.}, journal = {Letters in applied microbiology}, volume = {65}, number = {5}, pages = {431-438}, doi = {10.1111/lam.12794}, pmid = {28833313}, issn = {1472-765X}, mesh = {Brazil ; Ecosystem ; Environment ; Fungi/classification/genetics/*isolation &amp; purification/*metabolism ; Geologic Sediments/chemistry/*microbiology ; History, Ancient ; Sculpture/history ; }, abstract = {UNLABELLED: This study aimed to evaluate the action of organic acids produced by the fungal population associated with the biodeterioration process of the Twelve Prophets of Aleijadinho, a set of soapstone sculptures in Congonhas, state of Minas Gerais, Brazil. For this, samples of fungi were obtained from the surface of each of the 12 outdoor stone sculptures that comprise the set of Prophets. The identification of the colonizing filamentous fungi was performed by classical microbiology and molecular methods. Some species of filamentous fungi-dependent cultivation were detected, and the presence of species Aspergillus versicolor, Curvularia lunata, Epicoccum nigrum, Penicillium citrinum and Pseudocercospora norchiensis indicated a connection with the excretion of organic acids. The acids produced by each of these fungal species were analysed quantitatively by chromatographic methods, revealing potential biodeterioration by the action of acidic metabolites excreted in the stone.<br><br>Minas Gerais, Brazil, is vulnerable to the activities of mineral extraction industries, posing an imminent risk to United Nations Educational, Scientific and Cultural Organization (UNESCO) recognized cities, e.g. Congonhas. Many of these municipalities hold many soapstone religious sculptures and historical monuments. Consequently, soapstone is susceptible to filamentous fungi attack causing irreversible biodeterioration. Despite the concern related to nondestructive sampling of 18th century sculptures, in this study, we have discussed the factors that lead to biodeterioration of soapstone due to organic acid excretion by the fungi that damage the stone, thereby providing an insight in conserving and preserving the soapstone monuments.}, }
@article {pmid28827385, year = {2017}, author = {Sayos, J and Wu, C and Morra, M and Wang, N and Zhang, X and Allen, D and van Schaik, S and Notarangelo, L and Geha, R and Roncarolo, MG and Oettgen, H and De Vries, JE and Aversa, G and Terhorst, C}, title = {Pillars Article: The X-Linked Lymphoproliferative Disease Gene Product SAP Regulates Signals Induced through the Co-Receptor SLAM. Nature. 1998. 395: 462-469.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {199}, number = {5}, pages = {1534-1541}, pmid = {28827385}, issn = {1550-6606}, support = {P01 AI035714/AI/NIAID NIH HHS/United States ; }, mesh = {Adult ; Allergy and Immunology/*history ; Animals ; Cloning, Molecular ; History, 20th Century ; Humans ; Jurkat Cells ; Lymphocyte Activation ; Lymphoproliferative Disorders/*genetics/immunology ; Male ; Mice ; Mice, Inbred C57BL ; Mutation/*genetics ; Sequence Alignment ; Signaling Lymphocytic Activation Molecule Associated Protein/*genetics/metabolism ; Signaling Lymphocytic Activation Molecule Family Member 1/*metabolism ; T-Lymphocytes/*immunology ; Young Adult ; }, }
@article {pmid28791592, year = {2017}, author = {Bard, JBL}, title = {C.H. Waddington's differences with the creators of the modern evolutionary synthesis: a tale of two genes.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {3}, pages = {18}, pmid = {28791592}, issn = {0391-9714}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; *Models, Genetic ; Phenotype ; Systems Biology ; }, abstract = {In 2011, Peterson suggested that the main reason why C.H. Waddington was essentially ignored by the framers of the modern evolutionary synthesis in the 1950s was because they were Cartesian reductionists and mathematical population geneticists while he was a Whiteheadian organicist and experimental geneticist who worked with Drosophila. This paper suggests a further reason that can only be seen now. The former defined genes and their alleles by their selectable phenotypes, essentially the Mendelian view, while Waddington defined a gene through its functional role as determined by genetic analysis, a view that foresaw the modern view that a gene is a DNA sequence with some function. The former were interested in selection, while Waddington focused on variation. The differences between the two views of a gene are briefly considered in the context of systems biology.}, }
@article {pmid28783727, year = {2017}, author = {Lazaridis, I and Mittnik, A and Patterson, N and Mallick, S and Rohland, N and Pfrengle, S and Furtwängler, A and Peltzer, A and Posth, C and Vasilakis, A and McGeorge, PJP and Konsolaki-Yannopoulou, E and Korres, G and Martlew, H and Michalodimitrakis, M and Özsait, M and Özsait, N and Papathanasiou, A and Richards, M and Roodenberg, SA and Tzedakis, Y and Arnott, R and Fernandes, DM and Hughey, JR and Lotakis, DM and Navas, PA and Maniatis, Y and Stamatoyannopoulos, JA and Stewardson, K and Stockhammer, P and Pinhasi, R and Reich, D and Krause, J and Stamatoyannopoulos, G}, title = {Genetic origins of the Minoans and Mycenaeans.}, journal = {Nature}, volume = {548}, number = {7666}, pages = {214-218}, pmid = {28783727}, issn = {1476-4687}, support = {/HHMI/Howard Hughes Medical Institute/United States ; R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; }, mesh = {Chromosomes, Human, X/genetics ; Ethnicity/*genetics/history ; Female ; Greece ; History, Ancient ; Human Migration/history ; Humans ; Male ; *Phylogeny ; Polymorphism, Single Nucleotide/genetics ; Principal Component Analysis ; }, abstract = {The origins of the Bronze Age Minoan and Mycenaean cultures have puzzled archaeologists for more than a century. We have assembled genome-wide data from 19 ancient individuals, including Minoans from Crete, Mycenaeans from mainland Greece, and their eastern neighbours from southwestern Anatolia. Here we show that Minoans and Mycenaeans were genetically similar, having at least three-quarters of their ancestry from the first Neolithic farmers of western Anatolia and the Aegean, and most of the remainder from ancient populations related to those of the Caucasus and Iran. However, the Mycenaeans differed from Minoans in deriving additional ancestry from an ultimate source related to the hunter-gatherers of eastern Europe and Siberia, introduced via a proximal source related to the inhabitants of either the Eurasian steppe or Armenia. Modern Greeks resemble the Mycenaeans, but with some additional dilution of the Early Neolithic ancestry. Our results support the idea of continuity but not isolation in the history of populations of the Aegean, before and after the time of its earliest civilizations.}, }
@article {pmid28747540, year = {2017}, author = {Bazer, FW and Thatcher, WW}, title = {Chronicling the discovery of interferon tau.}, journal = {Reproduction (Cambridge, England)}, volume = {154}, number = {5}, pages = {F11-F20}, pmid = {28747540}, issn = {1741-7899}, support = {R01 HD032534/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Embryo Loss/genetics ; Female ; *Genetic Association Studies/history ; History, 20th Century ; History, 21st Century ; Humans ; Interferon Type I/*genetics/history ; Pregnancy ; Pregnancy Proteins/*genetics/history ; Uterus/metabolism ; }, abstract = {It has been 38 years since a protein, now known as interferon tau (IFNT), was discovered in ovine conceptus-conditioned culture medium. After 1979, purification and testing of native IFNT revealed its unique antiluteolyic activity to prevent the regression of corpora lutea on ovaries of nonpregnant ewes. Antiviral, antiproliferative and immunomodulatory properties of native and recombinant IFNT were demonstrated later. In addition, progesterone and IFNT were found to act cooperatively to silence expression of classical interferon stimulated genes in a cell-specific manner in ovine uterine luminal and superficial glandular epithelia. But, IFNT signaling through a STAT1/STAT2-independent pathway stimulates expression of genes, such as those for transport of glucose and amino acids, which are required for growth and development of the conceptus. Further, undefined mechanisms of action of IFNT are key to a servomechanism that allows ovine placental lactogen and placental growth hormone to affect the development of uterine glands and their expression of genes throughout gestation. IFNT also acts systemically to induce the expression of interferon stimulated genes that influence secretion of progesterone by the corpus luteum. Finally, IFNT has great potential as a therapeutic agent due to its low cytotoxicity, anti-inflammatory properties and effects to mitigate diabetes, obesity-associated syndromes and various autoimmune diseases.}, }
@article {pmid28648283, year = {2017}, author = {Cardon, MW}, title = {50 Years Ago in The Journal of Pediatrics: An Assessment of the Creatine Kinase Test in the Detection of Carriers of Duchenne Muscular Dystrophy.}, journal = {The Journal of pediatrics}, volume = {186}, number = {}, pages = {63}, doi = {10.1016/j.jpeds.2017.01.027}, pmid = {28648283}, issn = {1097-6833}, mesh = {Child ; Clinical Enzyme Tests/*history ; Creatine Kinase/*blood ; Genetic Carrier Screening/*history/methods ; History, 20th Century ; Humans ; Muscular Dystrophy, Duchenne/blood/diagnosis/*history ; Pediatrics/history ; Periodicals as Topic/history ; }, }
@article {pmid28630107, year = {2017}, author = {McMurry, MT and Krangel, MS}, title = {Pillars Article: A Role for Histone Acetylation in the Developmental Regulation of V(D)J Recombination. Science. 2000. 287: 495-498.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {199}, number = {1}, pages = {5-8}, pmid = {28630107}, issn = {1550-6606}, mesh = {Acetylation ; Allergy and Immunology/*history ; Animals ; Genetics/*history ; Histones/*metabolism ; History, 20th Century ; Humans ; Mice ; *Protein Processing, Post-Translational ; V(D)J Recombination/*genetics/immunology ; }, }
@article {pmid28628456, year = {2017}, author = {Lamp, B and Schwarz, L and Högler, S and Riedel, C and Sinn, L and Rebel-Bauder, B and Weissenböck, H and Ladinig, A and Rümenapf, T}, title = {Novel Pestivirus Species in Pigs, Austria, 2015.}, journal = {Emerging infectious diseases}, volume = {23}, number = {7}, pages = {1176-1179}, pmid = {28628456}, issn = {1080-6059}, mesh = {Animals ; Austria/epidemiology ; Disease Outbreaks ; History, 21st Century ; Immunohistochemistry ; Pestivirus/*classification/genetics/metabolism ; Pestivirus Infections/*veterinary ; Phenotype ; Phylogeny ; RNA, Viral ; Sus scrofa ; Swine ; Swine Diseases/diagnosis/*epidemiology/history/*virology ; }, abstract = {A novel pestivirus species was discovered in a piglet-producing farm in Austria during virologic examinations of congenital tremor cases. The emergence of this novel pestivirus species, provisionally termed Linda virus, in domestic pigs may have implications for classical swine fever virus surveillance and porcine health management.}, }
@article {pmid28621409, year = {2017}, author = {Khaner, O}, title = {Hefzibah Eyal-Giladi (1925-2017): over fifty years of embryological research in Israel.}, journal = {The International journal of developmental biology}, volume = {61}, number = {3-4-5}, pages = {121-126}, doi = {10.1387/ijdb.160179ok}, pmid = {28621409}, issn = {1696-3547}, mesh = {Animals ; *Body Patterning ; Chick Embryo ; Developmental Biology/*history ; Female ; Germ Cells/cytology ; History, 20th Century ; History, 21st Century ; Humans ; Israel ; Male ; Mesoderm/physiology ; Vertebrates ; }, abstract = {Hefzibah Eyal-Giladi was a creative and innovative pioneering scientist in the creation of the field of early chick embryo development. She had a sharp thinking and enthusiastic attitude, which enabled her to make a deep impression that was highly valued by the general scientific community. Notably, she was a highly successful female researcher in an era which was dominated by male scientists. Her unique personality and keen intellect enabled her to break these borders in a most successful manner. The experiments conducted by her personally, her students and her collaborators served to provide the basic knowledge and paradigms for future scientists in the field, also paving the way for discoveries in other vertebrate model systems. The experimental embryology assays she performed were "old school", examining embryos and explants at a precise morphological level of tissue interactions. In recent years, most of the experimentation in embryology has shifted to molecular and genetic levels. However, the results obtained with these technologically advanced research tools still re-confirm the fundamental findings obtained by Eyal-Giladi using "classic" experimental embryology techniques. Finally, Hefzibah Eyal-Giladi was an outstanding teacher and lecturer. For five decades, she trained and taught generations of undergraduate and graduate students in Israel, exposing them to the field of embryology and developmental biology in the most exciting and enthusiastic way.}, }
@article {pmid28611240, year = {2017}, author = {Armitage, JP and Becker, A and Christie, PJ and de Boer, PAJ and DiRita, VJ and Gourse, RL and Henkin, TM and Margolin, W and Metcalf, WW and Mullineaux, CW and O'Toole, GA and Parkinson, JS and Schneewind, O and Silhavy, TJ and Stock, AM and Zhulin, IB}, title = {Classic Spotlights: Selected Highlights from the First 100 Years of the Journal of Bacteriology.}, journal = {Journal of bacteriology}, volume = {199}, number = {13}, pages = {}, doi = {10.1128/JB.00062-17}, pmid = {28611240}, issn = {1098-5530}, support = {R01 GM048746/GM/NIGMS NIH HHS/United States ; R37 AI083256/AI/NIAID NIH HHS/United States ; }, mesh = {*Bacteriology ; History, 20th Century ; History, 21st Century ; Periodicals as Topic/*history ; }, }
@article {pmid28610953, year = {2017}, author = {Liu, WN and Yan, M and Chan, AM}, title = {A thirty-year quest for a role of R-Ras in cancer: from an oncogene to a multitasking GTPase.}, journal = {Cancer letters}, volume = {403}, number = {}, pages = {59-65}, doi = {10.1016/j.canlet.2017.06.003}, pmid = {28610953}, issn = {1872-7980}, mesh = {Animals ; Biomarkers, Tumor/genetics/history/*metabolism ; Biomedical Research/history/*methods ; Cell Adhesion Molecules/metabolism ; Cell Communication ; Cell Transformation, Neoplastic/genetics/*metabolism/pathology ; Enzyme Activation ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Neoplasms/*enzymology/genetics/history/pathology ; Nerve Tissue Proteins/metabolism ; Phenotype ; Semaphorins/metabolism ; Signal Transduction ; ras Proteins/genetics/history/*metabolism ; }, abstract = {Since the identification of R-Ras, which is the first Ras-related GTPase isolated based on sequence similarity to the classical RAS oncogene, more than 160 members of the Ras superfamily of GTPases have been identified and classified into the Ras, Rho, Rap, Rab, Ran, Arf, Rheb, RGK, Rad, Rit, and Miro subfamilies. R-Ras belongs to the Ras subfamily of small G-proteins, which are frequently implicated in cell growth and differentiation. Although the roles of R-Ras in cellular transformation and integrin-mediated cell adhesion have been extensively studied, the physiological function of this enigmatic G-protein was only revealed when a mouse strain deficient in R-Ras was generated. In parallel, a plethora of research findings also linked R-Ras with processes including tumor angiogenesis, axon guidance, and immune cell trafficking. Several upstream factors that modulate R-Ras GTP-binding were identified including Notch, semaphorin, and chemokine C-C motif ligand 21. A review of our evolving understanding of the role of R-Ras in oncogenesis is timely, as this year marks the 30th anniversary of the publication describing the cloning of R-Ras.}, }
@article {pmid28592503, year = {2017}, author = {Kaufman, TC}, title = {A Short History and Description of Drosophila melanogaster Classical Genetics: Chromosome Aberrations, Forward Genetic Screens, and the Nature of Mutations.}, journal = {Genetics}, volume = {206}, number = {2}, pages = {665-689}, pmid = {28592503}, issn = {1943-2631}, mesh = {Animals ; Chromosome Aberrations ; Drosophila melanogaster/*genetics ; Genome, Insect/*genetics ; History, 20th Century ; History, 21st Century ; Miosis/genetics ; Mutation/*genetics ; Science/*history ; }, abstract = {The purpose of this chapter in FlyBook is to acquaint the reader with the Drosophila genome and the ways in which it can be altered by mutation. Much of what follows will be familiar to the experienced Fly Pusher but hopefully will be useful to those just entering the field and are thus unfamiliar with the genome, the history of how it has been and can be altered, and the consequences of those alterations. I will begin with the structure, content, and organization of the genome, followed by the kinds of structural alterations (karyotypic aberrations), how they affect the behavior of chromosomes in meiotic cell division, and how that behavior can be used. Finally, screens for mutations as they have been performed will be discussed. There are several excellent sources of detailed information on Drosophila husbandry and screening that are recommended for those interested in further expanding their familiarity with Drosophila as a research tool and model organism. These are a book by Ralph Greenspan and a review article by John Roote and Andreas Prokop, which should be required reading for any new student entering a fly lab for the first time.}, }
@article {pmid28397400, year = {2017}, author = {Suzuki, TK}, title = {On the Origin of Complex Adaptive Traits: Progress Since the Darwin Versus Mivart Debate.}, journal = {Journal of experimental zoology. Part B, Molecular and developmental evolution}, volume = {328}, number = {4}, pages = {304-320}, doi = {10.1002/jez.b.22740}, pmid = {28397400}, issn = {1552-5015}, mesh = {Adaptation, Physiological/*genetics ; Animals ; *Biological Evolution ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Biological ; Models, Genetic ; Morphogenesis ; Selection, Genetic/*physiology ; }, abstract = {The evolutionary origin of complex adaptive traits has been a controversial topic in the history of evolutionary biology. Although Darwin argued for the gradual origins of complex adaptive traits within the theory of natural selection, Mivart insisted that natural selection could not account for the incipient stages of complex traits. The debate starting from Darwin and Mivart eventually engendered two opposite views: gradualism and saltationism. Although this has been a long-standing debate, the issue remains unresolved. However, recent studies have interrogated classic examples of complex traits, such as the asymmetrical eyes of flatfishes and leaf mimicry of butterfly wings, whose origins were debated by Darwin and Mivart. Here, I review recent findings as a starting point to provide a modern picture of the evolution of complex adaptive traits. First, I summarize the empirical evidence that unveils the evolutionary steps toward complex traits. I then argue that the evolution of complex traits could be understood within the concept of "reducible complexity." Through these discussions, I propose a conceptual framework for the formation of complex traits, named as reducible-composable multicomponent systems, that satisfy two major characteristics: reducibility into a sum of subcomponents and composability to construct traits from various additional and combinatorial arrangements of the subcomponents. This conceptual framework provides an analytical foundation for exploring evolutionary pathways to build up complex traits. This review provides certain essential avenues for deciphering the origin of complex adaptive traits.}, }
@article {pmid28384245, year = {2017}, author = {Hanot Mambres, D and Boarbi, S and Michel, P and Bouker, N and Escobar-Calle, L and Desqueper, D and Fancello, T and Van Esbroeck, M and Godfroid, J and Fretin, D and Mori, M}, title = {Imported human brucellosis in Belgium: Bio and molecular typing of bacterial isolates, 1996-2015.}, journal = {PloS one}, volume = {12}, number = {4}, pages = {e0174756}, pmid = {28384245}, issn = {1932-6203}, mesh = {Bacterial Typing Techniques ; Belgium/epidemiology ; Brucella/*genetics/isolation &amp; purification ; Brucellosis/*epidemiology/microbiology ; DNA, Bacterial/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Minisatellite Repeats ; Risk Factors ; }, abstract = {OBJECTIVES: The aim of this study was to characterize by classical biotyping and Multi-Locus variable number tandem repeats (VNTR) Analysis (MLVA) all Brucella spp. derived from human cases in Belgium from 1996 to 2015. Final goals were to determine the species and biovar, to trace-back on genetic grounds the origin of each strain when patient history and risk factors were missing, and to survey for particular trends at the national level.<br><br>METHODS: A total of 37 Brucella strains, isolated from 37 patients in Belgium, were analyzed by both classical biotyping and MLVA, and the genetic patterns compared to those of human strains isolated worldwide.<br><br>RESULTS: Classical biotyping revealed that isolates were mainly Brucella melitensis. Most of them belonged to biovar 3, the most abundant biovar in the Mediterranean region. MLVA confirmed that Brucella melitensis is too diverse in VNTRs to be able to make clusters associated to each biovar, but it allowed retrieving precious epidemiological information. The analysis highlighted the imported nature of the strains from all over the world with a dominant part from the Mediterranean countries. Findings of the MLVA11 testing were in line with the travel history of patients coming from Italy, Turkey, Lebanon and Peru. The analysis was particularly useful because it suggested the geographical origin of the infection for 12/16 patients for whom no case history was available.<br><br>CONCLUSION: Classical biotyping and MLVA analysis are not exclusive but remain complementary tools for Brucella melitensis strain surveillance. MLVA11 is sufficient for Brucella-free countries such as Belgium to trace the geographical origin of infection, but complete MLVA16 is needed to search for links with endemic areas.}, }
@article {pmid28360126, year = {2017}, author = {Portin, P and Wilkins, A}, title = {The Evolving Definition of the Term "Gene".}, journal = {Genetics}, volume = {205}, number = {4}, pages = {1353-1364}, pmid = {28360126}, issn = {1943-2631}, mesh = {*Genes ; Genetic Techniques/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; *Terminology as Topic ; }, abstract = {This paper presents a history of the changing meanings of the term "gene," over more than a century, and a discussion of why this word, so crucial to genetics, needs redefinition today. In this account, the first two phases of 20th century genetics are designated the "classical" and the "neoclassical" periods, and the current molecular-genetic era the "modern period." While the first two stages generated increasing clarity about the nature of the gene, the present period features complexity and confusion. Initially, the term "gene" was coined to denote an abstract "unit of inheritance," to which no specific material attributes were assigned. As the classical and neoclassical periods unfolded, the term became more concrete, first as a dimensionless point on a chromosome, then as a linear segment within a chromosome, and finally as a linear segment in the DNA molecule that encodes a polypeptide chain. This last definition, from the early 1960s, remains the one employed today, but developments since the 1970s have undermined its generality. Indeed, they raise questions about both the utility of the concept of a basic "unit of inheritance" and the long implicit belief that genes are autonomous agents. Here, we review findings that have made the classic molecular definition obsolete and propose a new one based on contemporary knowledge.}, }
@article {pmid28320912, year = {2017}, author = {Gough, NM and Gough, J and Metcalf, D and Kelso, A and Grail, D and Nicola, NA and Burgess, AW and Dunn, AR}, title = {Pillars Article: Molecular Cloning of cDNA Encoding a Murine Haematopoietic Growth Regulator, Granulocyte-Macrophage Colony Stimulating Factor. Nature. 1984. 309: 763-767.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {198}, number = {7}, pages = {2522-2526}, pmid = {28320912}, issn = {1550-6606}, mesh = {Allergy and Immunology/*history ; Animals ; Cell Differentiation ; Cloning, Molecular ; DNA, Complementary/analysis ; Granulocyte-Macrophage Colony-Stimulating Factor/*genetics/metabolism ; Granulocytes/*physiology ; Hematopoiesis ; History, 20th Century ; History, 21st Century ; Humans ; Lung/*physiology ; Macrophages/*physiology ; Mice ; Myeloid Progenitor Cells/physiology ; }, }
@article {pmid28273291, year = {2017}, author = {Ross, DA and Arbuckle, MR and Travis, MJ and Dwyer, JB and van Schalkwyk, GI and Ressler, KJ}, title = {An Integrated Neuroscience Perspective on Formulation and Treatment Planning for Posttraumatic Stress Disorder: An Educational Review.}, journal = {JAMA psychiatry}, volume = {74}, number = {4}, pages = {407-415}, pmid = {28273291}, issn = {2168-6238}, support = {R25 MH077823/MH/NIMH NIH HHS/United States ; R25 MH086466/MH/NIMH NIH HHS/United States ; R25 MH101076/MH/NIMH NIH HHS/United States ; }, mesh = {*Afghan Campaign 2001- ; Animals ; Brain/physiopathology ; Combat Disorders/diagnosis/psychology/*therapy ; Conditioning, Classical/physiology ; Disease Models, Animal ; Epigenesis, Genetic/physiology ; Fear/physiology ; Humans ; Hypothalamo-Hypophyseal System/physiopathology ; *Iraq War, 2003-2011 ; Memory Consolidation/physiology ; Military Personnel/*psychology ; Nerve Net/physiopathology ; Neurosciences/*education ; *Patient Care Planning ; Pituitary-Adrenal System/physiopathology ; Stress Disorders, Post-Traumatic/diagnosis/psychology/*therapy ; }, abstract = {IMPORTANCE: Posttraumatic stress disorder (PTSD) is a common psychiatric illness, increasingly in the public spotlight in the United States due its prevalence in the soldiers returning from combat in Iraq and Afghanistan. This educational review presents a contemporary approach for how to incorporate a modern neuroscience perspective into an integrative case formulation. The article is organized around key neuroscience "themes" most relevant for PTSD. Within each theme, the article highlights how seemingly diverse biological, psychological, and social perspectives all intersect with our current understanding of neuroscience.<br><br>OBSERVATIONS: Any contemporary neuroscience formulation of PTSD should include an understanding of fear conditioning, dysregulated circuits, memory reconsolidation, epigenetics, and genetic factors. Fear conditioning and other elements of basic learning theory offer a framework for understanding how traumatic events can lead to a range of behaviors associated with PTSD. A circuit dysregulation framework focuses more broadly on aberrant network connectivity, including between the prefrontal cortex and limbic structures. In the process of memory reconsolidation, it is now clear that every time a memory is reactivated it becomes momentarily labile-with implications for the genesis, maintenance, and treatment of PTSD. Epigenetic changes secondary to various experiences, especially early in life, can have long-term effects, including on the regulation of the hypothalamic-pituitary-adrenal axis, thereby affecting an individual's ability to regulate the stress response. Genetic factors are surprisingly relevant: PTSD has been shown to be highly heritable despite being definitionally linked to specific experiences. The relevance of each of these themes to current clinical practice and its potential to transform future care are discussed.<br><br>CONCLUSIONS AND RELEVANCE: Together, these perspectives contribute to an integrative, neuroscience-informed approach to case formulation and treatment planning. This may help to bridge the gap between the traditionally distinct viewpoints of clinicians and researchers.}, }
@article {pmid28273061, year = {2017}, author = {Weyrich, LS and Duchene, S and Soubrier, J and Arriola, L and Llamas, B and Breen, J and Morris, AG and Alt, KW and Caramelli, D and Dresely, V and Farrell, M and Farrer, AG and Francken, M and Gully, N and Haak, W and Hardy, K and Harvati, K and Held, P and Holmes, EC and Kaidonis, J and Lalueza-Fox, C and de la Rasilla, M and Rosas, A and Semal, P and Soltysiak, A and Townsend, G and Usai, D and Wahl, J and Huson, DH and Dobney, K and Cooper, A}, title = {Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus.}, journal = {Nature}, volume = {544}, number = {7650}, pages = {357-361}, doi = {10.1038/nature21674}, pmid = {28273061}, issn = {1476-4687}, mesh = {Animals ; Belgium ; Carnivory ; Caves ; DNA, Ancient/*analysis ; Dental Calculus/*chemistry ; Diet/*history ; Enterocytozoon/genetics/isolation &amp; purification ; *Food Preferences ; Genome, Bacterial/genetics ; Health/*history ; History, Ancient ; Humans ; Intestines/microbiology ; Meat/history ; Methanobrevibacter/genetics/isolation &amp; purification ; Mouth/microbiology ; Neanderthals/*microbiology/*psychology ; Pan troglodytes/microbiology ; Penicillium/chemistry ; Perissodactyla ; Sheep ; Spain ; Stomach/microbiology ; Symbiosis ; Time Factors ; Vegetarians/history ; }, abstract = {Recent genomic data have revealed multiple interactions between Neanderthals and modern humans, but there is currently little genetic evidence regarding Neanderthal behaviour, diet, or disease. Here we describe the shotgun-sequencing of ancient DNA from five specimens of Neanderthal calcified dental plaque (calculus) and the characterization of regional differences in Neanderthal ecology. At Spy cave, Belgium, Neanderthal diet was heavily meat based and included woolly rhinoceros and wild sheep (mouflon), characteristic of a steppe environment. In contrast, no meat was detected in the diet of Neanderthals from El Sidrón cave, Spain, and dietary components of mushrooms, pine nuts, and moss reflected forest gathering. Differences in diet were also linked to an overall shift in the oral bacterial community (microbiota) and suggested that meat consumption contributed to substantial variation within Neanderthal microbiota. Evidence for self-medication was detected in an El Sidrón Neanderthal with a dental abscess and a chronic gastrointestinal pathogen (Enterocytozoon bieneusi). Metagenomic data from this individual also contained a nearly complete genome of the archaeal commensal Methanobrevibacter oralis (10.2× depth of coverage)-the oldest draft microbial genome generated to date, at around 48,000 years old. DNA preserved within dental calculus represents a notable source of information about the behaviour and health of ancient hominin specimens, as well as a unique system that is useful for the study of long-term microbial evolution.}, }
@article {pmid28137945, year = {2017}, author = {DiRita, VJ}, title = {Classic Spotlight: Persistence Persists.}, journal = {Journal of bacteriology}, volume = {199}, number = {4}, pages = {}, pmid = {28137945}, issn = {1098-5530}, mesh = {Acetylation ; Bacteriology/history ; History, 20th Century ; Humans ; Macrophages/*microbiology ; Protein Processing, Post-Translational ; Ribosomal Proteins/*analysis/metabolism ; Salmonella typhimurium/*chemistry/*growth &amp; development ; U937 Cells ; }, }
@article {pmid28059604, year = {2017}, author = {Hoßfeld, U and Watts, E and Levit, GS}, title = {Valentin Haecker (1864-1927) as a pioneer of phenogenetics: Building the bridge between genotype and phenotype.}, journal = {Epigenetics}, volume = {12}, number = {4}, pages = {247-253}, pmid = {28059604}, issn = {1559-2308}, mesh = {*Genotype ; History, 19th Century ; History, 20th Century ; Humans ; *Phenotype ; }, abstract = {Valentin Haecker is one of the forerunners of experimental biology, genetics, and developmental physiology. Haecker introduced the term Phänogenetik (phenogenetics) in 1918 in Entwicklungsgeschichtliche Eigenschaftsanalyse (Evolutionary Analysis of Characters), in which he described the earliest stages in the development of the phenotype. [1] His major objective in this publication was to integrate the 2 most important concepts of Mendelian genetics-phenotype and genotype-within a well-articulated theory. Haecker realized that a proper analysis of how the genotype gives rise to the phenotype requires the integration of knowledge of morphology, physiology, and experimental embryology.}, }
@article {pmid28010792, year = {2017}, author = {Goldman, AS}, title = {50 Years Ago in The Journal of Pediatrics: Dysgammaglobulinemic Antibody Deficiency Syndrome: Increased γM-Globulins and Decreased γG- and γA-Globulins.}, journal = {The Journal of pediatrics}, volume = {180}, number = {}, pages = {183}, doi = {10.1016/j.jpeds.2016.07.038}, pmid = {28010792}, issn = {1097-6833}, mesh = {History, 20th Century ; Humans ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Immunologic Deficiency Syndromes/*diagnosis/genetics/history ; Pediatrics/*history ; gamma-Globulins/deficiency ; }, }
@article {pmid28010789, year = {2017}, author = {Heikamp, EB and Parsons, DW and Plon, SE}, title = {50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders.}, journal = {The Journal of pediatrics}, volume = {180}, number = {}, pages = {115}, doi = {10.1016/j.jpeds.2016.08.023}, pmid = {28010789}, issn = {1097-6833}, mesh = {Adrenal Cortex Neoplasms/complications/*genetics/history ; Brain Neoplasms/complications ; Child ; Genetic Predisposition to Disease ; History, 20th Century ; Humans ; Hypertrophy/complications ; Mutation ; Neoplastic Syndromes, Hereditary/*genetics/history ; Pediatrics/*history ; }, }
@article {pmid27927896, year = {2016}, author = {Turelli, M}, title = {Edward East on the Mendelian Basis of Quantitative Trait Variation.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1321-1323}, pmid = {27927896}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Quantitative Trait Loci/*genetics ; Tobacco/*genetics ; }, }
@article {pmid27864374, year = {2016}, author = {Metcalf, WW}, title = {Classic Spotlight: Metabolic Flux-Which Way To Go?.}, journal = {Journal of bacteriology}, volume = {198}, number = {24}, pages = {3248-3249}, pmid = {27864374}, issn = {1098-5530}, mesh = {Biochemistry/education/history ; *Carbohydrate Metabolism ; *Genetic Variation ; Genetics, Microbial ; History, 20th Century ; *Metabolic Networks and Pathways ; Metabolomics ; }, }
@article {pmid27844115, year = {2016}, author = {Vollmann, J and Buerstmayr, H}, title = {From phenotype to genotype: celebrating 150 years of Mendelian genetics in plant breeding research.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2237-2239}, pmid = {27844115}, issn = {1432-2242}, mesh = {Crosses, Genetic ; Genetic Research ; Genetics/*history ; Genotype ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Phenotype ; *Plant Breeding ; Plants/*genetics ; }, }
@article {pmid27698418, year = {2016}, author = {Skoglund, P and Posth, C and Sirak, K and Spriggs, M and Valentin, F and Bedford, S and Clark, GR and Reepmeyer, C and Petchey, F and Fernandes, D and Fu, Q and Harney, E and Lipson, M and Mallick, S and Novak, M and Rohland, N and Stewardson, K and Abdullah, S and Cox, MP and Friedlaender, FR and Friedlaender, JS and Kivisild, T and Koki, G and Kusuma, P and Merriwether, DA and Ricaut, FX and Wee, JT and Patterson, N and Krause, J and Pinhasi, R and Reich, D}, title = {Genomic insights into the peopling of the Southwest Pacific.}, journal = {Nature}, volume = {538}, number = {7626}, pages = {510-513}, pmid = {27698418}, issn = {1476-4687}, support = {/HHMI/HHMI/ ; 261213/ERC_/European Research Council/International ; GM100233//National Institute of Health/International ; R01 GM100233/GM/NIGMS NIH HHS/United States ; 263441/ERC_/European Research Council/International ; }, mesh = {Asian People/*genetics ; Female ; Genetics, Population ; Genome, Human/*genetics ; *Genomics ; History, Ancient ; Human Migration/*history ; Humans ; Male ; Native Hawaiian or Other Pacific Islander/*genetics ; New Guinea/ethnology ; *Phylogeny ; Polynesia/ethnology ; Tonga ; Vanuatu ; }, abstract = {The appearance of people associated with the Lapita culture in the South Pacific around 3,000 years ago marked the beginning of the last major human dispersal to unpopulated lands. However, the relationship of these pioneers to the long-established Papuan people of the New Guinea region is unclear. Here we present genome-wide ancient DNA data from three individuals from Vanuatu (about 3,100-2,700 years before present) and one from Tonga (about 2,700-2,300 years before present), and analyse them with data from 778 present-day East Asians and Oceanians. Today, indigenous people of the South Pacific harbour a mixture of ancestry from Papuans and a population of East Asian origin that no longer exists in unmixed form, but is a match to the ancient individuals. Most analyses have interpreted the minimum of twenty-five per cent Papuan ancestry in the region today as evidence that the first humans to reach Remote Oceania, including Polynesia, were derived from population mixtures near New Guinea, before their further expansion into Remote Oceania. However, our finding that the ancient individuals had little to no Papuan ancestry implies that later human population movements spread Papuan ancestry through the South Pacific after the first peopling of the islands.}, }
@article {pmid27781385, year = {2017}, author = {Vargas, AO and Krabichler, Q and Guerrero-Bosagna, C}, title = {An Epigenetic Perspective on the Midwife Toad Experiments of Paul Kammerer (1880-1926).}, journal = {Journal of experimental zoology. Part B, Molecular and developmental evolution}, volume = {328}, number = {1-2}, pages = {179-192}, doi = {10.1002/jez.b.22708}, pmid = {27781385}, issn = {1552-5015}, mesh = {Animals ; Bufonidae/*genetics/*physiology ; Developmental Biology/*history ; *Epigenesis, Genetic ; History, 19th Century ; History, 20th Century ; }, abstract = {Paul Kammerer was the most outstanding neo-Lamarckian experimentalist of the early 20th century. He reported spectacular results in the midwife toad, including crosses of environmentally modified toads with normal toads, where acquired traits were inherited in Mendelian fashion. Accusations of fraud generated a great scandal, ending with Kammerer's suicide. Controversy reignited in the 1970s, when journalist Arthur Koestler argued against these accusations. Since then, others have argued that Kammerer's results, even if real, were not groundbreaking and could be explained by somatic plasticity, inadvertent selection, or conventional genetics. More recently, epigenetics has uncovered mechanisms by which inheritance can respond directly to environmental change, inviting a reanalysis of Kammerer's descriptions. Previous arguments for mere somatic plasticity have ignored the description of experiments showing heritable germ line modification. Alleged inadvertent selection associated with egg mortality can be discarded, since mortality decreased in a single generation, upon repeated exposures. The challenging implications did not escape the attention of Kammerer's noted contemporary, William Bateson, but he reacted with disbelief, thus encouraging fraud accusations. Nowadays, formerly puzzling phenomena can be explained by epigenetic mechanisms. Importantly, Kammerer described parent-of-origin effects, an effect of parental sex on dominance. Epigenetic mechanisms underlie these effects in genomic imprinting and experiments of transgenerational epigenetic inheritance. In the early 20th century, researchers had no reason to link them with the inheritance of acquired traits. Thus, the parent-of-origin effects in Kammerer's experiments specifically suggest authenticity. Ultimate proof should come from renewed experimentation. To encourage further research, we present a model of possible epigenetic mechanisms.}, }
@article {pmid27770041, year = {2016}, author = {Christie, PJ}, title = {Classic Spotlight: Journal of Bacteriology Minireviews Illuminate Bacterial Translocation Systems.}, journal = {Journal of bacteriology}, volume = {198}, number = {22}, pages = {3042-3043}, pmid = {27770041}, issn = {1098-5530}, support = {R01 GM048746/GM/NIGMS NIH HHS/United States ; }, mesh = {Adenosine Triphosphate/*metabolism ; Bacteria/*metabolism ; Bacterial Secretion Systems/*genetics/*metabolism ; Bacteriology/history ; *Biological Transport, Active ; History, 20th Century ; History, 21st Century ; Secretory Vesicles/*genetics/*metabolism ; }, }
@article {pmid27770040, year = {2016}, author = {Zhulin, IB}, title = {Classic Spotlight: Genetics of Escherichia coli Chemotaxis.}, journal = {Journal of bacteriology}, volume = {198}, number = {22}, pages = {3041}, pmid = {27770040}, issn = {1098-5530}, mesh = {Bacteriology/history ; Chemotaxis/*genetics ; Escherichia coli/*genetics/*physiology ; History, 20th Century ; }, }
@article {pmid27767007, year = {2016}, author = {Zhu, W and Zhang, H and Xiang, X and Zhong, L and Yang, L and Guo, J and Xie, Y and Li, F and Deng, Z and Feng, H and Huang, Y and Hu, S and Xu, X and Zou, X and Li, X and Bai, T and Chen, Y and Li, Z and Li, J and Shu, Y}, title = {Reassortant Eurasian Avian-Like Influenza A(H1N1) Virus from a Severely Ill Child, Hunan Province, China, 2015.}, journal = {Emerging infectious diseases}, volume = {22}, number = {11}, pages = {1930-1936}, pmid = {27767007}, issn = {1080-6059}, mesh = {Animals ; Cell Line ; China/epidemiology ; Genes, Viral ; History, 21st Century ; Humans ; Infant ; Influenza A Virus, H1N1 Subtype/*classification/*genetics/isolation &amp; purification/pathogenicity ; Influenza, Human/*diagnosis/epidemiology/history/*virology ; Multilocus Sequence Typing ; Phylogeny ; RNA, Viral ; *Reassortant Viruses ; Serologic Tests ; Severity of Illness Index ; Virulence ; Virus Replication ; }, abstract = {In 2015, a novel influenza A(H1N1) virus was isolated from a boy in China who had severe pneumonia. The virus was a genetic reassortant of Eurasian avian-like influenza A(H1N1) (EA-H1N1) virus. The hemagglutinin, neuraminidase, and matrix genes of the reassortant virus were highly similar to genes in EA-H1N1 swine influenza viruses, the polybasic 1 and 2, polymerase acidic, and nucleoprotein genes originated from influenza A(H1N1)pdm09 virus, and the nonstructural protein gene derived from classical swine influenza A(H1N1) (CS H1N1) virus. In a mouse model, the reassortant virus, termed influenza A/Hunan/42443/2015(H1N1) virus, showed higher infectivity and virulence than another human EA-H1N1 isolate, influenza A/Jiangsu/1/2011(H1N1) virus. In the respiratory tract of mice, virus replication by influenza A/Hunan/42443/2015(H1N1) virus was substantially higher than that by influenza A/Jiangsu/1/2011(H1N1) virus. Human-to-human transmission of influenza A/Hunan/42443/2015(H1N1) virus has not been detected; however, given the circulation of novel EA-H1N1 viruses in pigs, enhanced surveillance should be instituted among swine and humans.}, }
@article {pmid27754860, year = {2016}, author = {Kinzler, K and Vogelstein, B}, title = {Necessity Is the Mother of Invention: The Development of Digital Genomics.}, journal = {Clinical chemistry}, volume = {62}, number = {12}, pages = {1668-1669}, doi = {10.1373/clinchem.2016.262741}, pmid = {27754860}, issn = {1530-8561}, mesh = {Genomics/*history ; History, 20th Century ; Humans ; Inventions/history ; Polymerase Chain Reaction/*history/methods ; }, }
@article {pmid27744490, year = {2016}, author = {Gebhardt, C}, title = {The historical role of species from the Solanaceae plant family in genetic research.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2281-2294}, pmid = {27744490}, issn = {1432-2242}, mesh = {Biological Evolution ; Chromosome Mapping ; Comparative Genomic Hybridization ; Genetic Linkage ; Genetic Research/*history ; Genome, Plant ; History, 20th Century ; History, 21st Century ; Quantitative Trait Loci ; Solanaceae/*genetics ; }, abstract = {This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100 years. The tomato was one of the principal models in twentieth century classical genetics and a pacemaker of genome analysis in plants including molecular linkage maps, positional cloning of disease resistance genes and quantitative trait loci (QTL). Besides that, tomato is the model for the genetics of fruit development and composition. Tobacco was the major model used to establish the principals and methods of plant somatic cell genetics including in vitro propagation of cells and tissues, totipotency of somatic cells, doubled haploid production and genetic transformation. Petunia was a model for elucidating the biochemical and genetic basis of flower color and development. The cultivated potato is the economically most important Solanaceous plant and ranks third after wheat and rice as one of the world's great food crops. Potato is the model for studying the genetic basis of tuber development. Molecular genetics and genomics of potato, in particular association genetics, made valuable contributions to the genetic dissection of complex agronomic traits and the development of diagnostic markers for breeding applications. Pepper and eggplant are horticultural crops of worldwide relevance. Genetic and genomic research in pepper and eggplant mostly followed the tomato model. Comparative genome analysis of tomato, potato, pepper and eggplant contributed to the understanding of plant genome evolution.}, }
@article {pmid27740888, year = {2016}, author = {Hogan, JD}, title = {G. Stanley Hall and The Journal of Genetic Psychology: A Note.}, journal = {The Journal of genetic psychology}, volume = {177}, number = {6}, pages = {191-194}, doi = {10.1080/00221325.2016.1239998}, pmid = {27740888}, issn = {1940-0896}, mesh = {History, 19th Century ; History, 20th Century ; Humans ; Periodicals as Topic/*history ; Psychology, Developmental/*history ; }, abstract = {The Journal of Genetic Psychology (originally called The Pedagogical Seminary) has a complicated history. Known primarily as a journal of development psychology, it was originally intended to be a journal of higher education. In addition, G. Stanley Hall created it, at least in part, to curry favor with Jonas Clark, the benefactor of Clark University. The journal had a cumbersome start, with irregular issues for most of its first decade. Hall was a hands-on editor, often contributing articles and reviews as well as the texts of many of his speeches. A substantial number of additional articles were written by Clark University faculty and fellows where Hall was president. After Hall.s death, the editor became Carl Murchison who eventually left Clark University with the journal and continued to publish it privately until his death. Through the years, the journal has been the source for many classic articles in developmental psychology.}, }
@article {pmid27729492, year = {2016}, author = {Abbott, S and Fairbanks, DJ}, title = {Experiments on Plant Hybrids by Gregor Mendel.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {407-422}, doi = {10.1534/genetics.116.195198}, pmid = {27729492}, issn = {1943-2631}, mesh = {Genetics ; History, 19th Century ; Inheritance Patterns/*genetics ; Peas/*genetics ; Plants ; }, }
@article {pmid27729491, year = {2016}, author = {Fairbanks, DJ and Abbott, S}, title = {Darwin's Influence on Mendel: Evidence from a New Translation of Mendel's Paper.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {401-405}, pmid = {27729491}, issn = {1943-2631}, mesh = {Biological Evolution ; Genetics/*history ; History, 19th Century ; *Selection, Genetic ; }, abstract = {Gregor Mendel's classic paper, Versuche über Pflanzen-Hybriden (Experiments on Plant Hybrids), was published in 1866, hence 2016 is its sesquicentennial. Mendel completed his experiments in 1863 and shortly thereafter began compiling the results and writing his paper, which he presented in meetings of the Natural Science Society in Brünn in February and March of 1865. Mendel owned a personal copy of Darwin's Origin of Species, a German translation published in 1863, and it contains his marginalia. Its publication date indicates that Mendel's study of Darwin's book could have had no influence while he was conducting his experiments but its publication date coincided with the period of time when he was preparing his paper, making it possible that Darwin's writings influenced Mendel's interpretations and theory. Based on this premise, we prepared a Darwinized English translation of Mendel's paper by comparing German terms Mendel employed with the same terms in the German translation of Origin of Species in his possession, then using Darwin's counterpart English words and phrases as much as possible in our translation. We found a substantially higher use of these terms in the final two (10th and 11th) sections of Mendel's paper, particularly in one key paragraph, where Mendel reflects on evolutionary issues, providing strong evidence of Darwin's influence on Mendel.}, }
@article {pmid27717955, year = {2016}, author = {Smýkal, P and K Varshney, R and K Singh, V and Coyne, CJ and Domoney, C and Kejnovský, E and Warkentin, T}, title = {From Mendel's discovery on pea to today's plant genetics and breeding : Commemorating the 150th anniversary of the reading of Mendel's discovery.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2267-2280}, pmid = {27717955}, issn = {1432-2242}, mesh = {Chromosome Mapping ; Genetic Variation ; Genetics/*history ; Genome, Plant ; Genomics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Peas/*genetics ; Phenotype ; *Plant Breeding ; Plants, Genetically Modified/genetics ; Quantitative Trait Loci ; Selection, Genetic ; }, abstract = {This work discusses several selected topics of plant genetics and breeding in relation to the 150th anniversary of the seminal work of Gregor Johann Mendel. In 2015, we celebrated the 150th anniversary of the presentation of the seminal work of Gregor Johann Mendel. While Darwin's theory of evolution was based on differential survival and differential reproductive success, Mendel's theory of heredity relies on equality and stability throughout all stages of the life cycle. Darwin's concepts were continuous variation and "soft" heredity; Mendel espoused discontinuous variation and "hard" heredity. Thus, the combination of Mendelian genetics with Darwin's theory of natural selection was the process that resulted in the modern synthesis of evolutionary biology. Although biology, genetics, and genomics have been revolutionized in recent years, modern genetics will forever rely on simple principles founded on pea breeding using seven single gene characters. Purposeful use of mutants to study gene function is one of the essential tools of modern genetics. Today, over 100 plant species genomes have been sequenced. Mapping populations and their use in segregation of molecular markers and marker-trait association to map and isolate genes, were developed on the basis of Mendel's work. Genome-wide or genomic selection is a recent approach for the development of improved breeding lines. The analysis of complex traits has been enhanced by high-throughput phenotyping and developments in statistical and modeling methods for the analysis of phenotypic data. Introgression of novel alleles from landraces and wild relatives widens genetic diversity and improves traits; transgenic methodologies allow for the introduction of novel genes from diverse sources, and gene editing approaches offer possibilities to manipulate gene in a precise manner.}, }
@article {pmid27686564, year = {2016}, author = {Ferraro, A}, title = {Theorizing epigenesis in a time of preexistence: From the end of the seventeenth century to the 1720s.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {14}, doi = {10.1007/s40656-016-0115-0}, pmid = {27686564}, issn = {0391-9714}, mesh = {*Epigenesis, Genetic ; Epigenomics/*history ; France ; History, 17th Century ; History, 18th Century ; }, abstract = {According to a classic periodization in the history of science, biological thought as it emerged in France from the last decades of the seventeenth century to the 1740s was strongly committed to the doctrine of the preexistence of germs. Nicolas Malebranche's role in disseminating this paradigm, particularly in the milieu of the Académie Royale des Sciences during the years when Bernard Le Bouyer de Fontenelle was its secretary, has been studied in detail, especially by Jacques Roger. However, much less has been said about the authors who argued against this doctrine prior to the appearance of the relevant pieces by Pierre-Louis Moreau de Maupertuis, Georges-Louis Leclerc, Comte de Buffon, and Denis Diderot. I aim to examine a series of French medical treatises and clandestine manuscripts that outlined a mechanist theory of epigenesis, between the end of the seventeenth century and the 1720s, to bring to light the strategies-often quite original-that allowed them to achieve this result. One interesting case is the heterodox readers of Malebranche, which use some of his own arguments (notably on the physiology of brain traces and the laws of nature) both against preexistence and to support epigenesis. I inquire into the historical worth of the positions defended by these authors as well as into the connections existing between the history of epigenesis and that of materialism in the early modern era.}, }
@article {pmid27638938, year = {2016}, author = {Hoshino, K and Takeuchi, O and Kawai, T and Sanjo, H and Ogawa, T and Takeda, Y and Takeda, K and Akira, S}, title = {Pillars Article: Cutting Edge: Toll-Like Receptor 4 (TLR4)-Deficient Mice Are Hyporesponsive to Lipopolysaccharide: Evidence for TLR4 as the Lps Gene Product. J. Immunol. 1999. 162: 3749-3752.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {197}, number = {7}, pages = {2563-2566}, pmid = {27638938}, issn = {1550-6606}, mesh = {Animals ; History, 20th Century ; Lipopolysaccharides/*pharmacology ; Mice, Inbred C3H ; Toll-Like Receptor 4/deficiency/genetics/*history ; }, }
@article {pmid27613860, year = {2016}, author = {Gourse, RL}, title = {Classic Spotlight: the Heat Shock Response and the Discovery of Alternative Sigma Factors in Escherichia coli.}, journal = {Journal of bacteriology}, volume = {198}, number = {19}, pages = {2550}, pmid = {27613860}, issn = {1098-5530}, mesh = {Bacillus subtilis/genetics/physiology ; Bacteriology/history ; Escherichia coli/*genetics/*physiology ; *Gene Expression Regulation, Bacterial ; *Heat-Shock Response ; History, 20th Century ; Sigma Factor/*genetics/*metabolism ; }, }
@article {pmid27613859, year = {2016}, author = {Stock, AM}, title = {Classic Spotlight: Managing Stress.}, journal = {Journal of bacteriology}, volume = {198}, number = {19}, pages = {2549}, pmid = {27613859}, issn = {1098-5530}, mesh = {Adaptation, Physiological ; Bacterial Proteins/*genetics/*metabolism ; Bacteriology/history ; Escherichia coli/*genetics/*physiology ; *Gene Expression Regulation, Bacterial ; History, 20th Century ; Sigma Factor/*genetics/*metabolism ; Stress, Physiological ; }, }
@article {pmid29558593, year = {2016}, author = {Oesterdiekhoff, GW}, title = {Child and Ancient Man: How to Define Their Commonalities and Differences.}, journal = {The American journal of psychology}, volume = {129}, number = {}, pages = {295-312}, doi = {10.5406/amerjpsyc.129.3.0295}, pmid = {29558593}, issn = {0002-9556}, mesh = {Adult ; Child ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; History, Medieval ; *Human Development ; Humans ; *Psychological Theory ; *Psychology, Developmental ; }, abstract = {Developmental psychology is not only a psychology of development from childhood to old age but a psychology of human development in world history. Eighty years of cross-cultural empirical research findings indicate that the adolescent stage of formal operations evolved late in history and is not a universal development of adult humans across cultures and history. Correspondingly, preoperational or concrete operational stages describe adult psychological stages in past or premodern cultures, as Jean Piaget and some of his followers have mentioned. Developmental psychology is likewise a historical or anthropological psychology capable of describing humans in premodern cultures. The article develops a general anthropological or psychological theory answering the many questions that arise from the correspondences between (modern) children and ancient adults. On this psychological basis, the new structural genetic theory program is capable of explaining, better than previous approaches, the history of humankind from prehistory through ancient to modern societies, the history of economy, society, culture, religion, philosophy, sciences, morals, and everyday life. The accomplishment of this task was once demanded of some classical founders of psychology, sociology, history, and ethnology but was largely avoided by the postwar generations of authors for political and ideological reasons.}, }
@article {pmid27507099, year = {2016}, author = {Skoglund, P and Reich, D}, title = {A genomic view of the peopling of the Americas.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {27-35}, pmid = {27507099}, issn = {1879-0380}, support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; }, mesh = {Americas ; Arctic Regions ; Asia ; *Genome, Human ; *Genomics ; History, Ancient ; *Human Migration ; Humans ; Indians, North American/*genetics/history ; North America ; }, abstract = {Whole-genome studies have documented that most Native American ancestry stems from a single population that diversified within the continent more than twelve thousand years ago. However, this shared ancestry hides a more complex history whereby at least four distinct streams of Eurasian migration have contributed to present-day and prehistoric Native American populations. Whole genome studies enhanced by technological breakthroughs in ancient DNA now provide evidence of a sequence of events involving initial migrations from a structured Northeast Asian source population with differential relatedness to present-day Australasian populations, followed by a divergence into northern and southern Native American lineages. During the Holocene, new migrations from Asia introduced the Saqqaq/Dorset Paleoeskimo population to the North American Arctic ∼4500 years ago, ancestry that is potentially connected with ancestry found in Athabaskan-speakers today. This was then followed by a major new population turnover in the high Arctic involving Thule-related peoples who are the ancestors of present-day Inuit. We highlight several open questions that could be addressed through future genomic research.}, }
@article {pmid27445406, year = {2016}, author = {}, title = {McCulloch EA, Siminovitch L, Till JE, Russell ES, Bernstein SE. The cellular basis of the genetically determined hemopoietic defect in anemic mice of genotype Sl/Sld. Blood. 1965;26(4):399-410.}, journal = {Blood}, volume = {128}, number = {3}, pages = {315}, doi = {10.1182/blood-2016-05-716142}, pmid = {27445406}, issn = {1528-0020}, mesh = {Anemia/genetics/*history ; Animals ; Genotype ; Hematopoiesis/*genetics ; History, 20th Century ; Mice, Mutant Strains ; }, }
@article {pmid27432989, year = {2016}, author = {Rissler, LJ}, title = {Union of phylogeography and landscape genetics.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {29}, pages = {8079-8086}, pmid = {27432989}, issn = {1091-6490}, mesh = {Animals ; Evolution, Molecular ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Phylogeography and landscape genetics have arisen within the past 30 y. Phylogeography is said to be the bridge between population genetics and systematics, and landscape genetics the bridge between landscape ecology and population genetics. Both fields can be considered as simply the amalgamation of classic biogeography with genetics and genomics; however, they differ in the temporal, spatial, and organismal scales addressed and the methodology used. I begin by briefly summarizing the history and purview of each field and suggest that, even though landscape genetics is a younger field (coined in 2003) than phylogeography (coined in 1987), early studies by Dobzhansky on the "microgeographic races" of Linanthus parryae in the Mojave Desert of California and Drosophila pseudoobscura across the western United States presaged the fields by over 40 y. Recent advances in theory, models, and methods have allowed researchers to better synthesize ecological and evolutionary processes in their quest to answer some of the most basic questions in biology. I highlight a few of these novel studies and emphasize three major areas ripe for investigation using spatially explicit genomic-scale data: the biogeography of speciation, lineage divergence and species delimitation, and understanding adaptation through time and space. Examples of areas in need of study are highlighted, and I end by advocating a union of phylogeography and landscape genetics under the more general field: biogeography.}, }
@article {pmid27346509, year = {2016}, author = {Garfield, K and Schiffman, JD}, title = {50 Years Ago in TheJournal ofPediatrics: Multiple Cutaneous Cancers in Children: The Nevoid Basal Cell Carcinoma Syndrome.}, journal = {The Journal of pediatrics}, volume = {174}, number = {}, pages = {239}, doi = {10.1016/j.jpeds.2016.01.062}, pmid = {27346509}, issn = {1097-6833}, mesh = {Basal Cell Nevus Syndrome/genetics/*history ; Child ; Genetic Predisposition to Disease/history ; History, 20th Century ; Humans ; Mutation ; Pediatrics/*history ; Skin/pathology ; Skin Neoplasms/genetics/*history/pathology ; }, }
@article {pmid27345861, year = {2016}, author = {Chung, HC and Lee, JH and Nguyen, VG and Huynh, TML and Lee, GE and Moon, HJ and Park, SJ and Kim, HK and Park, BK}, title = {New emergence pattern with variant porcine epidemic diarrhea viruses, South Korea, 2012-2015.}, journal = {Virus research}, volume = {226}, number = {}, pages = {14-19}, pmid = {27345861}, issn = {1872-7492}, mesh = {Animals ; Communicable Diseases, Emerging/*veterinary ; Coronavirus Infections/*veterinary ; Diarrhea/*veterinary ; History, 21st Century ; Phylogeny ; Porcine epidemic diarrhea virus/*classification/*genetics ; Reassortant Viruses ; Recombination, Genetic ; Republic of Korea/epidemiology ; Swine ; Swine Diseases/*epidemiology/history/*virology ; Viral Proteins/genetics/metabolism ; }, abstract = {Since outbreaks of porcine epidemic diarrhea virus (PEDV) in the United States in 2013, explosive outbreaks of PED in South Korea have infected all age groups of pigs in 2014-2015year. This study analyzed a large collection of the Spike protein coding gene to infer the spatial-temporal diffusion history of PEDV. The studying results suggested that PEDVs in Korea belonged to different genogroups. While classical G1 was continuingly circulating between provinces of Korea, the pandemic G2a were recently introduced from China and USA. By the application of Bayesian phylogeographical analysis, this study demonstrated the spatial-temporal transmission of PEDVs within Korea. Of the recent emerged G2a viruses, J3142 strains showed potential recombination breakpoint (376-2,143nt) of S1 gene between KNU1303_Korea strain_G2a (KJ451046) and 45RWVCF0712_Thailand strain_G2b (KF724935). The pandemic G2a virus was partial neutralized by the antibodies invoked by the G1- based PED vaccine virus.}, }
@article {pmid27302122, year = {2016}, author = {Morgan, J}, title = {Jonathan Rosand: a classical neurologist in a modern world.}, journal = {The Lancet. Neurology}, volume = {15}, number = {6}, pages = {551}, doi = {10.1016/S1474-4422(16)00037-5}, pmid = {27302122}, issn = {1474-4465}, mesh = {Cerebrovascular Disorders/history/therapy ; History, 20th Century ; History, 21st Century ; Human Genetics/history ; Neurology/*history ; United States ; }, }
@article {pmid27263362, year = {2016}, author = {Gayon, J}, title = {From Mendel to epigenetics: History of genetics.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {225-230}, doi = {10.1016/j.crvi.2016.05.009}, pmid = {27263362}, issn = {1768-3238}, mesh = {Animals ; Epigenomics/*history/trends ; Genes ; Genetics/*history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/trends ; Plants/genetics ; }, abstract = {The origins of genetics are to be found in Gregor Mendel's memoir on plant hybridization (1865). However, the word 'genetics' was only coined in 1906, to designate the new science of heredity. Founded upon the Mendelian method for analyzing the products of crosses, this science is distinguished by its explicit purpose of being a general 'science of heredity', and by the introduction of totally new biological concepts (in particular those of gene, genotype, and phenotype). In the 1910s, Mendelian genetics fused with the chromosomal theory of inheritance, giving rise to what is still called 'classical genetics'. Within this framework, the gene is simultaneously a unit of function and transmission, a unit of recombination, and of mutation. Until the early 1950s, these concepts of the gene coincided. But when DNA was found to be the material basis of inheritance, this congruence dissolved. Then began the venture of molecular biology, which has never stopped revealing the complexity of the way in which hereditary material functions.}, }
@article {pmid27215970, year = {2016}, author = {de Wit, PJ}, title = {Cladosporium fulvum Effectors: Weapons in the Arms Race with Tomato.}, journal = {Annual review of phytopathology}, volume = {54}, number = {}, pages = {1-23}, doi = {10.1146/annurev-phyto-011516-040249}, pmid = {27215970}, issn = {1545-2107}, mesh = {Cladosporium/*physiology ; History, 20th Century ; History, 21st Century ; *Host-Pathogen Interactions ; Solanum lycopersicum/*microbiology ; Plant Diseases/*microbiology/prevention &amp; control ; }, abstract = {In this review, I recount my personal history. My drive to study host-pathogen interactions was to find alternatives for agrochemicals, which was triggered after reading the book "Silent Spring" by Rachel Carson. I reflect on my research at the Laboratory of Phytopathology at Wageningen University, where I have worked for my entire career on the interaction between Cladosporium fulvum and tomato, and related gene-for-gene pathosystems. I describe different methods used to identify and sequence avirulence (Avr) genes from the pathogen and resistance (R) genes from the host. The major genes involved in classical gene-for-gene interactions have now been identified, and breeders can produce plants with multiple R genes providing durable and environmentally safe protection against pathogens. In some cases, this might require the use of genetically modified plants when R genes cannot be introduced by classical breeding.}, }
@article {pmid27207805, year = {2016}, author = {Zheng, WP and Flavell, RA}, title = {Pillars Article: The Transcription Factor GATA-3 Is Necessary and Sufficient for Th2 Cytokine Gene Expression in CD4 T Cells. Cell. 1997. 89: 587-596.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {196}, number = {11}, pages = {4426-4435}, pmid = {27207805}, issn = {1550-6606}, mesh = {Animals ; CD4-Positive T-Lymphocytes/*immunology ; Cytokines/*genetics ; GATA3 Transcription Factor/*history/physiology ; History, 20th Century ; Th2 Cells/*immunology ; }, }
@article {pmid27183648, year = {2016}, author = {Bank, I and DePinho, RA and Brenner, MB and Cassimeris, J and Alt, FW and Chess, L}, title = {Pillars Article: A Functional T3 Molecule Associated with a Novel Heterodimer on the Surface of Immature Human Thymocytes. Nature. 1986. 322: 179-181.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {196}, number = {9}, pages = {3514-3516}, pmid = {27183648}, issn = {1550-6606}, mesh = {Antibodies, Monoclonal/immunology ; Antigens, Surface/immunology ; CD3 Complex/biosynthesis ; History, 20th Century ; Humans ; Membrane Proteins/biosynthesis ; RNA, Messenger/genetics ; Receptors, Antigen, T-Cell, gamma-delta/*biosynthesis/*genetics ; Thymocytes/cytology/*immunology ; }, }
@article {pmid27140921, year = {2016}, author = {Amberg, DC and Burke, DJ}, title = {Classical Genetics with Saccharomyces cerevisiae.}, journal = {Cold Spring Harbor protocols}, volume = {2016}, number = {5}, pages = {}, doi = {10.1101/pdb.top077628}, pmid = {27140921}, issn = {1559-6095}, mesh = {Genetics, Microbial/*history/*methods ; History, 20th Century ; History, 21st Century ; Saccharomyces cerevisiae/*genetics ; }, abstract = {The budding yeast Saccharomyces cerevisiae is an outstanding experimental model organism that has been exploited since the early part of the twentieth century for studies in biochemistry and genetics. It has been the premiere experimental system for modern functional genomics and continues to make important contributions to many areas of biology. Here we discuss its many virtues as an organism for classical genetic research.}, }
@article {pmid27039967, year = {2016}, author = {Cucina, A}, title = {Intra-population dental morphological variability among the Prehispanic Maya.}, journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen}, volume = {67}, number = {5}, pages = {384-396}, doi = {10.1016/j.jchb.2016.03.002}, pmid = {27039967}, issn = {1618-1301}, mesh = {Ethnicity/genetics/history ; Fossils/*anatomy &amp; histology/history ; Gene Flow ; History, Ancient ; Humans ; Mexico ; Paleodontology ; Population Dynamics/history ; Tooth/*anatomy &amp; histology ; }, abstract = {The present paper proposes a new approach to the estimation of intra-site variability of dental morphological traits when they are dichotomized into presence vs absence. It rests on the assumption that (1) higher intra-site variability is the expression of intense population dynamics and gene flow; and (2) maximum variability is reached when each trait is expressed in the population with a frequency of 50%. The approach simulates the calculation of frequency of heterozygotes in Mendelian traits (2xiyi), where xi and yi are the frequency of presence and absence of the trait. For every population, the final value corresponds to the average of (2xiyi) calculated from all the scored traits. Two separate analyses were performed using 50 and 40 traits recorded in 11 Prehispanic Maya skeletal collections from the Yucatán Peninsula. Resulting average values were related to the sites' positions within the region's social, political and economic sphere of influence. Dental collections that were obtained from important city centers or by grouping many sites from a single region present the highest values of internal variability, followed by sites known to have played an important role in trade activities or in other socio-political contexts. At the other end, dental collections that represent smaller communities or more isolated, kin-related groups are set at the lower ranks of internal variability. One-way ANOVA tests for both 50 and 40 variables show that sample means present significant differences between the extreme ends of the ranked set of samples.}, }
@article {pmid26960202, year = {2017}, author = {Else, T and Auchus, RJ and Miller, WL}, title = {Adrenocortical carcinoma in a 17th-century girl.}, journal = {The Journal of steroid biochemistry and molecular biology}, volume = {165}, number = {Pt A}, pages = {109-113}, doi = {10.1016/j.jsbmb.2016.03.008}, pmid = {26960202}, issn = {1879-1220}, mesh = {Adrenal Cortex Neoplasms/*diagnosis/history ; Adrenal Glands/metabolism ; Adrenocortical Carcinoma/*diagnosis/history ; Androgens/metabolism ; Autopsy ; Cushing Syndrome/diagnosis ; Female ; Glucocorticoids/metabolism ; History, 17th Century ; Humans ; Kidney/metabolism ; Mutation ; Neoplasm Metastasis ; Tumor Suppressor Protein p53/genetics ; }, abstract = {Adrenocortical carcinoma (ACC) is a rare, often fatal disease, that may be seen sporadically or with hereditary predisposition syndromes. Patients with ACC are usually girls under the age of seven who present signs of excess production of adrenal glucocorticoids and androgens, with the diagnosis being confirmed by imaging. Here we reproduce and examine what we believe to be the first autopsy case report of a child with ACC, reported by Dr. Henry Sampson in Philosophical Transactions, published by The Royal Society of London in 1697. The paper describes the autopsy of a girl with severe virilization and profound signs of Cushing syndrome who died at age six, strongly suggesting ACC. She apparently had extensive pulmonary metastases, and may have had liver involvement. The report indicates her disease arose from her left kidney and there is no indication of an adrenal origin, perhaps because the adrenal gland was not generally known as a separate organ at that time. This classic example of an early case report is particularly instructive in the context of medical knowledge and understanding in the 17th century compared to current knowledge.}, }
@article {pmid26953264, year = {2016}, author = {Schimenti, JC}, title = {L. C. Dunn and Donald Charles on Quantitative Traits in the Mouse.}, journal = {Genetics}, volume = {202}, number = {3}, pages = {867-868}, pmid = {26953264}, issn = {1943-2631}, mesh = {Animals ; Genetics/*history ; Hair ; History, 20th Century ; Mice ; *Phenotype ; Pigmentation/genetics ; *Quantitative Trait, Heritable ; }, }
@article {pmid26953263, year = {2016}, author = {Barton, NH}, title = {Richard Hudson and Norman Kaplan on the Coalescent Process.}, journal = {Genetics}, volume = {202}, number = {3}, pages = {865-866}, pmid = {26953263}, issn = {1943-2631}, mesh = {Alleles ; Animals ; Drosophila melanogaster/genetics ; Genetic Drift ; Genetics, Population/*history ; History, 20th Century ; *Models, Genetic ; Population Density ; *Selection, Genetic ; }, }
@article {pmid26937644, year = {2016}, author = {Akhoundi, M and Kuhls, K and Cannet, A and Votýpka, J and Marty, P and Delaunay, P and Sereno, D}, title = {A Historical Overview of the Classification, Evolution, and Dispersion of Leishmania Parasites and Sandflies.}, journal = {PLoS neglected tropical diseases}, volume = {10}, number = {3}, pages = {e0004349}, pmid = {26937644}, issn = {1935-2735}, mesh = {Animals ; *Biological Evolution ; Disease Reservoirs/*parasitology ; Fossils ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Insect Vectors/*parasitology ; Leishmania/classification/*isolation &amp; purification ; Leishmaniasis/*epidemiology/*history ; Psychodidae/classification/*growth &amp; development ; }, abstract = {BACKGROUND: The aim of this study is to describe the major evolutionary historical events among Leishmania, sandflies, and the associated animal reservoirs in detail, in accordance with the geographical evolution of the Earth, which has not been previously discussed on a large scale.<br><br>Leishmania and sandfly classification has always been a controversial matter, and the increasing number of species currently described further complicates this issue. Despite several hypotheses on the origin, evolution, and distribution of Leishmania and sandflies in the Old and New World, no consistent agreement exists regarding dissemination of the actors that play roles in leishmaniasis. For this purpose, we present here three centuries of research on sandflies and Leishmania descriptions, as well as a complete description of Leishmania and sandfly fossils and the emergence date of each Leishmania and sandfly group during different geographical periods, from 550 million years ago until now. We discuss critically the different approaches that were used for Leishmana and sandfly classification and their synonymies, proposing an updated classification for each species of Leishmania and sandfly. We update information on the current distribution and dispersion of different species of Leishmania (53), sandflies (more than 800 at genus or subgenus level), and animal reservoirs in each of the following geographical ecozones: Palearctic, Nearctic, Neotropic, Afrotropical, Oriental, Malagasy, and Australian. We propose an updated list of the potential and proven sandfly vectors for each Leishmania species in the Old and New World. Finally, we address a classical question about digenetic Leishmania evolution: which was the first host, a vertebrate or an invertebrate?<br><br>CONCLUSIONS AND SIGNIFICANCE: We propose an updated view of events that have played important roles in the geographical dispersion of sandflies, in relation to both the Leishmania species they transmit and the animal reservoirs of the parasites.}, }
@article {pmid26929383, year = {2016}, author = {Becker, A}, title = {Classic Spotlight: When Phenotypic Heterogeneity Met Carbon Catabolite Repression.}, journal = {Journal of bacteriology}, volume = {198}, number = {6}, pages = {878}, pmid = {26929383}, issn = {1098-5530}, mesh = {Bacteria/*enzymology/*genetics ; *Catabolite Repression ; *Gene Expression Regulation, Bacterial ; Genetics, Microbial/history ; *Genetics, Population ; Genotype ; History, 20th Century ; History, 21st Century ; Phenotype ; beta-Galactosidase/*biosynthesis ; }, }
@article {pmid26896482, year = {2016}, author = {Brugnera, E and Bhandoola, A and Cibotti, R and Yu, Q and Guinter, TI and Yamashita, Y and Sharrow, SO and Singer, A}, title = {Pillars Article: Coreceptor Reversal in the Thymus: Signaled CD4+8+ Thymocytes Initially Terminate CD8 Transcription Even When Differentiating into CD8+ T Cells. Immunity. 2000. 13: 59-71.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {196}, number = {5}, pages = {1985-1997}, pmid = {26896482}, issn = {1550-6606}, mesh = {Allergy and Immunology/*history ; Animals ; CD8 Antigens/*immunology ; CD8-Positive T-Lymphocytes/*cytology/*immunology ; Cell Differentiation/*immunology ; History, 20th Century ; Mice ; Thymocytes/cytology/immunology ; Thymus Gland/cytology/immunology ; Transcription, Genetic ; }, }
@article {pmid26869481, year = {2016}, author = {Meneely, PM}, title = {Pick Your Poisson: An Educational Primer for Luria and Delbrück's Classic Paper.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {371-375}, pmid = {26869481}, issn = {1943-2631}, mesh = {Escherichia coli/*genetics ; *Genetics/history ; History, 20th Century ; Humans ; Immunity/genetics ; *Models, Genetic ; *Mutation ; Mutation Rate ; Poisson Distribution ; }, abstract = {The origin of beneficial mutations is fundamentally important in understanding the processes by which natural selection works. Using phage-resistant mutants in Escherichia coli as their model for identifying the origin of beneficial mutations, Luria and Delbrück distinguished between two different hypotheses. Under the first hypothesis, which they termed "acquired immunity," the phages induced bacteria to mutate to immunity; this predicts that none of the resistant mutants were present before infection by the phages. Under the second hypothesis, termed "mutation to immunity," resistant bacteria arose from random mutations independent of the presence of the phages; this predicts that resistant bacteria were present in the population before infection by the phages. These two hypotheses could be distinguished by calculating the frequencies at which resistant mutants arose in separate cultures infected at the same time and comparing these frequencies to the theoretical results under each model. The data clearly show that mutations arise at a frequency that is independent of the presence of the phages. By inference, natural selection reveals the genetic variation that is present in a population rather than inducing or causing this variation.}, }
@article {pmid26856190, year = {2017}, author = {Płoszaj, T and Jędrychowska-Dańska, K and Masłowska, A and Kozłowski, T and Chudziak, W and Bojarski, J and Robaszkiewicz, A and Witas, HW}, title = {Analysis of medieval mtDNA from Napole cemetery provides new insights into the early history of Polish state.}, journal = {Annals of human biology}, volume = {44}, number = {1}, pages = {91-94}, doi = {10.3109/03014460.2016.1151550}, pmid = {26856190}, issn = {1464-5033}, mesh = {Adult ; Cemeteries/*history ; DNA, Mitochondrial/*genetics ; History, Medieval ; Humans ; Male ; Poland ; }, abstract = {Contemporary historical anthropology and classical archaeology are concerned not only with such fundamental issues as the origins of ancient human populations and migration routes, but also with the formation and development of inter-population relations and the mixing of gene pools as a result of inter-breeding between individuals representing different cultural units. The contribution of immigrants to the analysed autochthonous population and their effect on the gene pool of that population has proven difficult to evaluate with classical morphological methods. The burial of one individual in the studied Napole cemetery located in central Poland had the form of a chamber grave, which is typical of Scandinavian culture from that period. However, this fact cannot be interpreted as absolute proof that the individual (in the biological sense) was allochtonous. This gives rise to the question as to who was actually buried in that cemetery. The ancient DNA results indicate that one of the individuals had an mtDNA haplotype typical of Iron Age northern Europe, which suggests that he could have arrived from that area at a later period. This seems to indirectly confirm the claims of many anthropologists that the development of the early medieval Polish state was significantly and directly influenced by the Scandinavians.}, }
@article {pmid26839290, year = {2018}, author = {Raff, HB}, title = {Julian Lewis (1946-2014): A 'serious hero'.}, journal = {Journal of medical biography}, volume = {26}, number = {1}, pages = {33-37}, doi = {10.1177/0967772016629012}, pmid = {26839290}, issn = {1758-1087}, mesh = {Cell Biology/*history ; Cell Communication ; England ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, abstract = {Julian Lewis was a gifted medical researcher and writer. His early background was the Classics; then Physics and Math; finally, Molecular Cell Biology. He worked on important questions in early embryonic patterning and the cell communication system, and so cancer research, at King's College London, the Imperial Cancer Research Fund Oxford, and finally, Cancer Research UK London. He was a lifelong coauthor of the international textbook Molecular Biology of the Cell. His final personal battle with cancer was brave and not hidden. Awards included the Waddington Medal, a European Molecular Biology Organization membership, and a Fellowship of the Royal Society.}, }
@article {pmid26815850, year = {2016}, author = {Morgado, I}, title = {[Optogenetics: its history, fundamentals and relevance in the present and the past].}, journal = {Revista de neurologia}, volume = {62}, number = {3}, pages = {123-128}, pmid = {26815850}, issn = {1576-6578}, mesh = {Forecasting ; History, 21st Century ; Memory ; Neurons ; Optogenetics/*history/methods/*trends ; }, abstract = {INTRODUCTION: Optogenetic is an experimental technique that combines genetic engineering and optical physics procedures to mark specific neurons in the brain and activate them at will through rays of light of certain frequency.<br><br>AIM: To explain, to readers not versed in genetics the history, the rationale and the present and future applications of optogenetic in brain and mental processes research.<br><br>DEVELOPMENT: The current development of this technique is allowing considerable advances in accurate knowledge about the neural circuits that control behavior and motivational and cognitive states, like hunger and thirst, pain, sleep or learning and memory. Among the first shocking results there are the creation and control of false memories.<br><br>CONCLUSIONS: The optogenetics is a revolutionary experimental technique called to replace some of the classics techniques in brain behavior research and an important way in the development and control of mental processes and in the treatment of their diseases.}, }
@article {pmid26767207, year = {2015}, author = {Rüb, U and Vonsattel, JP and Heinsen, H and Korf, HW}, title = {The Neuropathology of Huntington´s disease: classical findings, recent developments and correlation to functional neuroanatomy.}, journal = {Advances in anatomy, embryology, and cell biology}, volume = {217}, number = {}, pages = {1-146}, pmid = {26767207}, issn = {0301-5556}, mesh = {Brain/metabolism/*pathology ; History, 19th Century ; History, 20th Century ; Humans ; Huntingtin Protein ; *Huntington Disease/etiology/history/metabolism/pathology/physiopathology ; Nerve Tissue Proteins/genetics/metabolism ; }, abstract = {Huntington’s disease (HD) is a severe, autosomal dominantly inherited, gradually worsening neurological disorder, the clinical features of which were first described in 1863 by Irving W. Lyon and with additional details, in 1872, by George Huntington. Progress in molecular biological research has shown that HD is caused by meiotically unstable CAG-repeats in the mutated HD gene (the so-called IT 15 gene) on chromosome 4p16.3, which encodes the mutated protein huntingtin (Htt). This monograph provides a survey of the stepwise progress in neuropathological HD research made during a time period of more than hundred years, the currently known neuropathological hallmarks of HD, as well as their pathogenic and clinical relevance. Starting with the initial descriptions of the progressive degeneration of the neostriatum (i.e., caudate nucleus and putamen) as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating qualitative and quantitative neuropathological data with characteristics pertaining to the functional neuroanatomy of the human brain, subsequent chapters will highlight the latest neuropathological HD findings: the area- and layer-specifi c neuronal loss in the cerebral neo- and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and the deep cerebellar nuclei, the involvement of distinct brainstem nuclei, and the pathophysiological relevance of these pathologies for the clinical phenotype of HD. Finally, the potential pathophysiological role of axonal transport deficit}, }
@article {pmid26751793, year = {2016}, author = {Beck, N}, title = {The spontaneous market order and evolution.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {58}, number = {}, pages = {49-55}, doi = {10.1016/j.shpsc.2015.12.003}, pmid = {26751793}, issn = {1879-2499}, mesh = {Animals ; *Biological Evolution ; Cultural Evolution ; Economics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Philosophy/history ; *Selection, Genetic ; }, abstract = {Darwin's theory of natural selection and the idea of a spontaneous order share a fundamental feature: the claim that apparent design or order do not necessarily imply a designer or rational planning. But they also present important differences, which touch upon central questions such as the evolution of morality, the role of human agency in social evolution, the existence (or not) of directionality in undesigned processes, and the presence (nor not) of a providential element in evolutionary accounts. In this article, I explore these themes and probe the relationship between the notion of a spontaneous order and the theory of evolution by natural selection. The reflections of Nobel laureate in economics, F.A. von Hayek, provide the beginning and endpoint in this voyage, for they constitute the most pronounced effort to develop a full-fledged theory combining evolution and economics in recent times. But along the way, I also investigate the influence of classical political economy on Darwin's thought, primarily that of Adam Smith, and consider the reasons for which Darwin did not refer to Smith when discussing the principle of natural selection in The Origin of Species. I conclude that the spontaneous order, as understood by Hayek, and evolution by natural selection constitute two disparate concepts.}, }
@article {pmid26733661, year = {2016}, author = {Barton, NH}, title = {Sewall Wright on Evolution in Mendelian Populations and the "Shifting Balance".}, journal = {Genetics}, volume = {202}, number = {1}, pages = {3-4}, pmid = {26733661}, issn = {1943-2631}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Models, Biological ; }, }
@article {pmid29489115, year = {2016}, author = {Jackson, MW}, title = {[In process.].}, journal = {Acta historica Leopoldina}, volume = {}, number = {65}, pages = {65-81}, pmid = {29489115}, issn = {0001-5857}, mesh = {Biotechnology/*history/legislation &amp; jurisprudence ; Drug Industry/*history/legislation &amp; jurisprudence ; *Genes ; History, 20th Century ; History, 21st Century ; Ownership ; Patents as Topic/*history/legislation &amp; jurisprudence ; Receptors, CCR5/*genetics ; United States ; }, abstract = {The story, which unfolds here, is a cultural history of science, one that closely analyzes the content of science. My story deals with an object, a gene. I use the CCR5 gene as a heuristic tool in order to probe the boundaries between science and society. Three important themes are discussed in this essay: genes as commodities (intellectual property and gene patents); alleles, natural selection, and the resistance to disease; and race and genomics. This is in part a story about neoliberalism, laissez-faire goverenments, free and open markets, the increase of privatization, and biotechnology. Many claim that the United States Patent and Trademake Office's (henceforth, USPTO) leniency in granting gene patenting led to the growth of biotechnology. I maintain the opposite: the growth of biotechnology led to decision to patent genes. My story is one of the present, a genealogy to borrow FOUCAULT'S and NIETZsCHE's terminology. How has it come about that genes are patentable entities, and that human classificatory schemes are usually based on race, although there are an infinite number of possibilities to characterize human variation? There are always alternatives, and historians are obliged to present those alternatives and explain why they were never chosen. I also use the concept of genealogy in the classical biological sense, i.e. to trace the passing of alleles from one generation to another. While this essay is similar to earlier studies dealing with the biography of objects, particularly scientific objects, the history told here is not a biography of the CCR5 gene, as that story is still ongoing. Rather, this essay concentrates upon a twenty-year period of the gene's life from the mid-1990s to the present. I am interested in understanding how it is we have reached the point we have today with respect to the relationship between science and society, and I use the CCR5 gene as a vehicle for that analysis.}, }
@article {pmid26715374, year = {2016}, author = {DiRita, VJ}, title = {Classic Spotlight: Phage Bring Punch to the Party.}, journal = {Journal of bacteriology}, volume = {198}, number = {2}, pages = {202}, pmid = {26715374}, issn = {1098-5530}, mesh = {Animals ; Bacteriophage Typing/*history/*methods ; Bacteriophages/*physiology ; Corynebacterium diphtheriae/classification/*pathogenicity/virology ; Diphtheria/*history/microbiology ; History, 20th Century ; Lysogeny ; Virulence ; }, }
@article {pmid26715373, year = {2016}, author = {Silhavy, TJ}, title = {Classic Spotlight: Gram-Negative Bacteria Have Two Membranes.}, journal = {Journal of bacteriology}, volume = {198}, number = {2}, pages = {201}, pmid = {26715373}, issn = {1098-5530}, mesh = {Bacterial Proteins/genetics/history/metabolism ; Cell Membrane/*physiology ; Cell Wall/*physiology ; Gene Expression Regulation, Bacterial/physiology ; Gram-Negative Bacteria/*physiology/*ultrastructure ; Gram-Positive Bacteria/*physiology/*ultrastructure ; History, 20th Century ; }, }
@article {pmid26709393, year = {2016}, author = {Kumar, S}, title = {MBE Citation Classics (2016 Edition).}, journal = {Molecular biology and evolution}, volume = {33}, number = {1}, pages = {1-3}, doi = {10.1093/molbev/msv279}, pmid = {26709393}, issn = {1537-1719}, mesh = {*Biological Evolution ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology ; Publications/history ; Research ; }, }
@article {pmid26703478, year = {2016}, author = {Papadimitriou, A}, title = {The Evolution of the Age at Menarche from Prehistorical to Modern Times.}, journal = {Journal of pediatric and adolescent gynecology}, volume = {29}, number = {6}, pages = {527-530}, doi = {10.1016/j.jpag.2015.12.002}, pmid = {26703478}, issn = {1873-4332}, mesh = {Adolescent ; Age Factors ; Child ; Female ; History, 21st Century ; History, Ancient ; Humans ; *Life History Traits ; *Menarche ; *Sexual Maturation ; }, abstract = {Menarche denotes the onset of the female reproductive capacity. The age that menarche occurs is mostly attributed to the interaction of genetics and various environmental factors. Herein, the author describes the evolution of the age at menarche from prehistoric to the present times. Data from skeletal remains suggest that in the Paleolithic woman menarche occurred at an age between 7 and 13 years, early sexual maturation being a trade-off for reduced life expectancy. In the classical, as well as in the medieval years, the age at menarche was generally reported to be at approximately 14 years, with a range from 12 to 15 years. A significant retardation of the age at menarche occurred in the beginning of the modern times, soon after the industrial revolution, due to the deterioration of the living conditions, with most studies reporting menarche to occur at 15-16 years. In the 20th century, especially in the second half of it, in the industrialized countries, the age at menarche decreased significantly, as a result of the improvement of the socioeconomic conditions, occurring at 12-13 years. In the present times, in the developed countries, this trend seems to slow down or level off.}, }
@article {pmid26699626, year = {2016}, author = {Meunier, R}, title = {The many lives of experiments: Wilhelm Johannsen, selection, hybridization, and the complex relations of genes and characters.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {42-64}, doi = {10.1007/s40656-015-0093-7}, pmid = {26699626}, issn = {0391-9714}, mesh = {Biological Evolution ; Fabaceae/*genetics ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; *Selection, Genetic ; }, abstract = {In addition to his experiments on selection in pure lines, Wilhelm Johannsen (1857-1927) performed less well-known hybridisation experiments with beans. This article describes these experiments and discusses Johannsen's motivations and interpretations, in the context of developments in early genetics. I will show that Johannsen first presented the hybridisation experiments as an additional control for his selection experiments. The latter were dedicated to investigating heredity with respect to debates concerning the significance of natural selection of continuous variation for evolution. In the course of the establishment of a Mendelian research program after 1900, the study of heredity gained increasing independence from questions of evolution, and focused more on the modes and mechanisms of heredity. Further to their role as control experiments, Johannsen also saw his hybridisation experiments as contributing to the Mendelian program, by extending the scope of the principles of Mendelian inheritance to quantitative characters. Towards the end of the first decade of genetics, Johannsen revisited his experiments to illustrate the many-many relationship between genes and characters, at a time when that relationship appeared increasingly complex, and the unit-character concept, accordingly, became inadequate. For the philosophy of science, the example shows that experiments can have multiple roles in a research programme, and can be interpreted in the light of questions other than those that motivated the experiments in the first place.}, }
@article {pmid26685313, year = {2016}, author = {Förster, R and Schubel, A and Breitfeld, D and Kremmer, E and Renner-Müller, I and Wolf, E and Lipp, M}, title = {Pillars Article: CCR7 Coordinates the Primary Immune Response by Establishing Functional Microenvironments in Secondary Lymphoid Organs. Cell. 1999. 99: 23-33.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {196}, number = {1}, pages = {5-15}, pmid = {26685313}, issn = {1550-6606}, mesh = {Adaptive Immunity/*immunology ; Animals ; Cellular Microenvironment/immunology ; Dendritic Cells/immunology ; History, 20th Century ; Lymph Nodes/*immunology ; Lymphocytes/immunology ; Mice ; Receptors, CCR7/genetics/*history/immunology ; }, }
@article {pmid26614894, year = {2015}, author = {Andritsos, LA and Grever, MR}, title = {Historical overview of hairy cell leukemia.}, journal = {Best practice &amp; research. Clinical haematology}, volume = {28}, number = {4}, pages = {166-174}, doi = {10.1016/j.beha.2015.10.018}, pmid = {26614894}, issn = {1532-1924}, mesh = {Antineoplastic Agents/*therapeutic use ; B-Lymphocytes/*drug effects/pathology ; Cladribine/therapeutic use ; Disease Management ; History, 20th Century ; History, 21st Century ; Humans ; Immunotoxins/therapeutic use ; Indoles/*therapeutic use ; Leukemia, Hairy Cell/*drug therapy/*history/mortality/surgery ; Mutation ; Pentostatin/therapeutic use ; Proto-Oncogene Proteins B-raf/*antagonists &amp; inhibitors/genetics/immunology ; Remission Induction ; Rituximab/therapeutic use ; Splenectomy ; Sulfonamides/*therapeutic use ; Survival Analysis ; Vemurafenib ; }, abstract = {Since its discovery in 1923 and further characterization in 1958, hairy cell leukemia (HCL) has undergone enormous advances in the understanding of the biology and treatment of the disease. Initially a uniformly fatal disease, new therapies in rapid succession transformed HCL into a chronic disease with a normal life expectancy in many cases. More recently, the identification of BRAFV600E mutations in the majority of patients with classic HCL have enabled targeted therapies as a therapeutic option. Additional discoveries into the biology of the disease have identified new subtypes of HCL. Modern approaches to the evaluation and treatment of HCL include detailed molecular analysis which informs therapeutic options, which may consist of traditional therapies such as purine nucleoside analogs, or targeted therapies with antibodies, BTK inhibitors, or BRAF inhibitors, or combination therapy. Because HCL is a rare disease, continued progress depends on patients being enrolled on clinical trials whenever possible.}, }
@article {pmid26584635, year = {2015}, author = {Mitsutake, N and Fukushima, T and Matsuse, M and Rogounovitch, T and Saenko, V and Uchino, S and Ito, M and Suzuki, K and Suzuki, S and Yamashita, S}, title = {BRAF(V600E) mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl.}, journal = {Scientific reports}, volume = {5}, number = {}, pages = {16976}, pmid = {26584635}, issn = {2045-2322}, mesh = {Adolescent ; Carcinogenesis/radiation effects ; Carcinoma, Papillary/diagnosis/epidemiology/*genetics ; Chernobyl Nuclear Accident ; Child ; DNA Mutational Analysis/methods ; Female ; Fukushima Nuclear Accident ; Gene Frequency ; Genetic Testing/methods ; Humans ; Japan/epidemiology ; Male ; *Mutation, Missense ; Prevalence ; Proto-Oncogene Proteins B-raf/*genetics ; Thyroid Gland/metabolism/pathology/radiation effects ; Thyroid Neoplasms/diagnosis/epidemiology/*genetics ; Young Adult ; }, abstract = {After the accident at the Fukushima Daiichi Nuclear Power Plant, the thyroid ultrasound screening program for children aged 0-18 at the time of the accident was started from October 2011. The prevalence of thyroid carcinomas in that population has appeared to be very high (84 cases per 296,253). To clarify the pathogenesis, we investigated the presence of driver mutations in these tumours. 61 classic papillary thyroid carcinomas (PTCs), two follicular variant PTCs, four cribriform-morular variant PTCs and one poorly-differentiated thyroid carcinoma were analysed. We detected BRAF(V600E) in 43 cases (63.2%), RET/PTC1 in six (8.8%), RET/PTC3 in one (1.5%) and ETV6/NTRK3 in four (5.9%). Among classic and follicular variant PTCs, BRAF(V600E) was significantly associated with the smaller size. The genetic pattern was completely different from post-Chernobyl PTCs, suggesting non-radiogenic etiology of these cancers. This is the first study demonstrating the oncogene profile in the thyroid cancers discovered by large mass screening, which probably reflects genetic status of all sporadic and latent tumours in the young Japanese population. It is assumed that BRAF(V600E) may not confer growth advantage on paediatric PTCs, and many of these cases grow slowly, suggesting that additional factors may be important for tumour progression in paediatric PTCs.}, }
@article {pmid26558946, year = {2015}, author = {Ribatti, D}, title = {Jacques Monod and Chance and Necessity.}, journal = {Critical reviews in eukaryotic gene expression}, volume = {25}, number = {3}, pages = {239-243}, doi = {10.1615/critreveukaryotgeneexpr.2015013929}, pmid = {26558946}, issn = {1045-4403}, mesh = {*Biological Evolution ; History, 20th Century ; Humans ; Molecular Biology/*history ; }, abstract = {Charles Darwin proposed the theory that evolution of live organisms is based on random variation and natural selection. Jacques Monod, in his classic book Chance and Necessity, published 45 years ago, presented his thesis that the biosphere does not contain a predictable class of objects or events, but constitutes a particular occurrence, compatible indeed with the first principles but not deducible from those principles. The biosphere is therefore essentially unpredictable. In his book, Monod expounded at length on the conflict between science and religion. He saw religion as a collection of primitive myths that had been blown to shreds by science. At every turn, Monod emphasized the role of chance in human existence, an idea that is antithetical to essentially every religious doctrine that places humans as some inevitable intention of a Creator.}, }
@article {pmid26544949, year = {2015}, author = {Kösters, G and Steinberg, H and Kirkby, KC and Himmerich, H}, title = {Ernst Rüdin's Unpublished 1922-1925 Study "Inheritance of Manic-Depressive Insanity": Genetic Research Findings Subordinated to Eugenic Ideology.}, journal = {PLoS genetics}, volume = {11}, number = {11}, pages = {e1005524}, pmid = {26544949}, issn = {1553-7404}, mesh = {Bipolar Disorder/*genetics ; Child ; *Eugenics ; Female ; *Genetic Predisposition to Disease ; Humans ; Male ; }, abstract = {In the early 20th century, there were few therapeutic options for mental illness and asylum numbers were rising. This pessimistic outlook favoured the rise of the eugenics movement. Heredity was assumed to be the principal cause of mental illness. Politicians, scientists and clinicians in North America and Europe called for compulsory sterilisation of the mentally ill. Psychiatric genetic research aimed to prove a Mendelian mode of inheritance as a scientific justification for these measures. Ernst Rüdin's seminal 1916 epidemiological study on inheritance of dementia praecox featured large, systematically ascertained samples and statistical analyses. Rüdin's 1922-1925 study on the inheritance of "manic-depressive insanity" was completed in manuscript form, but never published. It failed to prove a pattern of Mendelian inheritance, counter to the tenets of eugenics of which Rüdin was a prominent proponent. It appears he withheld the study from publication, unable to reconcile this contradiction, thus subordinating his carefully derived scientific findings to his ideological preoccupations. Instead, Rüdin continued to promote prevention of assumed hereditary mental illnesses by prohibition of marriage or sterilisation and was influential in the introduction by the National Socialist regime of the 1933 "Law for the Prevention of Hereditarily Diseased Offspring" (Gesetz zur Verhütung erbkranken Nachwuchses).}, }
@article {pmid26489766, year = {2015}, author = {Brown, M}, title = {Pyrexia of unknown origin 90 years on: a paradigm of modern clinical medicine.}, journal = {Postgraduate medical journal}, volume = {91}, number = {1082}, pages = {665-669}, doi = {10.1136/postgradmedj-2015-133554}, pmid = {26489766}, issn = {1469-0756}, mesh = {Anti-Bacterial Agents/*therapeutic use ; Cost-Benefit Analysis ; Diagnosis, Differential ; Familial Mediterranean Fever/complications/*diagnosis/drug therapy/history ; Fever of Unknown Origin/diagnosis/drug therapy/*etiology/history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Medical History Taking/*methods ; Physical Examination/history/*methods ; Vasculitis/complications/*diagnosis/drug therapy/history ; }, abstract = {In 1925, Sir Thomas Horder, a leading physician of his day, gave a lecture, published in this journal, entitled 'Some cases of pyrexia without physical signs'. The paper highlighted what was already a familiar clinical presentation "which taxes our resources to the utmost". Fast-forward through 90 years of careful clinical description, technological innovation in diagnosis and treatment, emergent infections, novel diagnoses, demographic shifts, and radical changes in the health economy. Sir Thomas would find certain aspects familiar, and others revolutionary, in the differential diagnosis and management of the 21st century patient with pyrexia of unknown origin (PUO). Within high-income settings, the proportion of cases due to infection has declined, albeit unevenly. The era of untreated HIV, and the consequences of iatrogenic intervention and immunosuppression, led to Durack and Street's subclassification of the condition in the early 1990 s into classic, nosocomial, neutropenic and HIV-associated PUO. Shifts towards ambulatory care have driven a change in the definition of many diseases. An era of observant clinicians, who lent their names to eponymous syndromes, followed by meticulous serological, genetic and clinicopathological correlation, generated a battery of diagnoses that, along with malignancy, form a large proportion of diagnoses in more recent clinical care. In the current era, universal access to cross-sectional imaging and an infinite array of laboratory tests has undermined the attention paid to history and examination. In some areas of the clinical assessment, such as assessing the fever pattern, this shift is supported by research evidence. The issues that need to be addressed in the next 90 years of technological innovation, information sharing and health service transformation are likely to include: transcriptomic approaches to diagnosis; the place of positron emission tomography (PET) in the diagnostic pathway; the optimal management of high ferritin states; and the most cost-effective diagnostic environment, in the face of this era of specialisation and fragmentation of care. In the meantime, this review covers some important early 21st century lessons to be shared in avoiding diagnostic pitfalls and choosing empirical therapy.}, }
@article {pmid26477047, year = {2015}, author = {Morel, L and Rudofsky, UH and Longmate, JA and Schiffenbauer, J and Wakeland, EK}, title = {Pillars Article: Polygenic Control of Susceptibility to Murine Systemic Lupus Erythematosus. Immunity. 1994. 1: 219-229.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {195}, number = {9}, pages = {4047-4057}, pmid = {26477047}, issn = {1550-6606}, mesh = {Animals ; Genetic Predisposition to Disease ; History, 20th Century ; Lupus Erythematosus, Systemic/genetics/*history ; Mice ; }, }
@article {pmid26465339, year = {2015}, author = {Little, MP and Kwon, D and Zablotska, LB and Brenner, AV and Cahoon, EK and Rozhko, AV and Polyanskaya, ON and Minenko, VF and Golovanov, I and Bouville, A and Drozdovitch, V}, title = {Impact of Uncertainties in Exposure Assessment on Thyroid Cancer Risk among Persons in Belarus Exposed as Children or Adolescents Due to the Chernobyl Accident.}, journal = {PloS one}, volume = {10}, number = {10}, pages = {e0139826}, pmid = {26465339}, issn = {1932-6203}, support = {K07 CA132918/CA/NCI NIH HHS/United States ; N01CP21178/CP/NCI NIH HHS/United States ; 5K07CA132918/CA/NCI NIH HHS/United States ; N01-CP-21178/CP/NCI NIH HHS/United States ; }, mesh = {Adolescent ; Adult ; Bayes Theorem ; *Chernobyl Nuclear Accident ; Child ; Disasters ; Dose-Response Relationship, Radiation ; Environmental Exposure ; Female ; Humans ; Iodine Radioisotopes/*adverse effects ; Male ; Markov Chains ; Models, Statistical ; Monte Carlo Method ; Neoplasms, Radiation-Induced/*epidemiology ; Nuclear Reactors ; Prevalence ; Reproducibility of Results ; Republic of Belarus ; Risk Factors ; Stochastic Processes ; Thyroid Neoplasms/*epidemiology/*etiology ; Ukraine ; Uncertainty ; Young Adult ; }, abstract = {BACKGROUND: The excess incidence of thyroid cancer in Ukraine and Belarus observed a few years after the Chernobyl accident is considered to be largely the result of 131I released from the reactor. Although the Belarus thyroid cancer prevalence data has been previously analyzed, no account was taken of dose measurement error.<br><br>METHODS: We examined dose-response patterns in a thyroid screening prevalence cohort of 11,732 persons aged under 18 at the time of the accident, diagnosed during 1996-2004, who had direct thyroid 131I activity measurement, and were resident in the most radio-actively contaminated regions of Belarus. Three methods of dose-error correction (regression calibration, Monte Carlo maximum likelihood, Bayesian Markov Chain Monte Carlo) were applied.<br><br>RESULTS: There was a statistically significant (p<0.001) increasing dose-response for prevalent thyroid cancer, irrespective of regression-adjustment method used. Without adjustment for dose errors the excess odds ratio was 1.51 Gy- (95% CI 0.53, 3.86), which was reduced by 13% when regression-calibration adjustment was used, 1.31 Gy- (95% CI 0.47, 3.31). A Monte Carlo maximum likelihood method yielded an excess odds ratio of 1.48 Gy- (95% CI 0.53, 3.87), about 2% lower than the unadjusted analysis. The Bayesian method yielded a maximum posterior excess odds ratio of 1.16 Gy- (95% BCI 0.20, 4.32), 23% lower than the unadjusted analysis. There were borderline significant (p = 0.053-0.078) indications of downward curvature in the dose response, depending on the adjustment methods used. There were also borderline significant (p = 0.102) modifying effects of gender on the radiation dose trend, but no significant modifying effects of age at time of accident, or age at screening as modifiers of dose response (p>0.2).<br><br>CONCLUSIONS: In summary, the relatively small contribution of unshared classical dose error in the current study results in comparatively modest effects on the regression parameters.}, }
@article {pmid26440511, year = {2015}, author = {Sen-Chowdhry, S and McKenna, WJ}, title = {Standing on the Shoulders of Giants: J.A.P. Paré and the Birth of Cardiovascular Genetics.}, journal = {The Canadian journal of cardiology}, volume = {31}, number = {11}, pages = {1305-1308}, doi = {10.1016/j.cjca.2015.05.026}, pmid = {26440511}, issn = {1916-7075}, support = {FS/10/011/27881/BHF_/British Heart Foundation/United Kingdom ; }, mesh = {Cardiovascular Diseases/*genetics/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Quebec ; }, abstract = {Sudden death and stroke afflicted a family from rural Quebec with such frequency as to be called the Coaticook curse by the local community. In Montreal in the late 1950s, a team of physicians led by J.A.P. Paré investigated this family for inherited cardiovascular disease. Their efforts resulted in an extensive and now classic description of familial hypertrophic cardiomyopathy. A quarter of a century later, the same family was the subject of linkage analysis and direct sequencing, culminating in the isolation of a mutation in the gene encoding the β myosin heavy chain. MYH7 was the first gene implicated in a cardiovascular disease, which paved the way for identification of mutations in other heritable disorders, mechanistic studies, and clinical applications, such as predictive testing. The present era of cardiovascular genomics arguably had its inception in the clinical observations of Dr Paré and his colleagues more than 50 years ago.}, }
@article {pmid26406362, year = {2015}, author = {Bellen, HJ and Yamamoto, S}, title = {Morgan's legacy: fruit flies and the functional annotation of conserved genes.}, journal = {Cell}, volume = {163}, number = {1}, pages = {12-14}, pmid = {26406362}, issn = {1097-4172}, support = {/HHMI_/Howard Hughes Medical Institute/United States ; R01 GM067858/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Drosophila melanogaster/*genetics ; Genetic Techniques ; Genetics/*history ; History, 20th Century ; Humans ; Models, Animal ; }, abstract = {In 1915, "The Mechanism of Mendelian Heredity" was published by four prominent Drosophila geneticists. They discovered that genes form linkage groups on chromosomes inherited in a Mendelian fashion and laid the genetic foundation that promoted Drosophila as a model organism. Flies continue to offer great opportunities, including studies in the field of functional genomics.}, }
@article {pmid26401581, year = {2015}, author = {Laron, Z}, title = {LESSONS FROM 50 YEARS OF STUDY OF LARON SYNDROME.}, journal = {Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists}, volume = {21}, number = {12}, pages = {1395-1402}, doi = {10.4158/EP15939.RA}, pmid = {26401581}, issn = {1530-891X}, mesh = {Adult ; *Biomedical Research/history/trends ; Child ; Child Development/physiology ; History, 20th Century ; History, 21st Century ; Human Growth Hormone/genetics ; Humans ; Insulin-Like Growth Factor I/genetics ; Laron Syndrome/*etiology/genetics/history/physiopathology ; }, abstract = {OBJECTIVE: To describe the characteristics of untreated and recombinant insulin-like growth factor 1 (IGF-1)- treated patients with the Laron syndrome (LS) as seen in our clinic over a period of over 50 years. In 1966, we reported a new disease, characterized by dwarfism (-4 to -10 height standard deviation score) typical facial features, small head circumference, obesity, and small genitalia. They resembled congenital growth hormone (GH) deficiency but had high levels of serum human GH and low IGF-1. Since then, our cohort grew to 69 patients, consisting of Jews of oriental origin, Muslins, and Christians originating from the Middle East or Mediterranean area. Many belong to consanguineous families.<br><br>METHODS: Molecular genetic investigations revealed that these patients had deletions or mutations in the GH receptor gene, but only individuals homozygous for this defect express the disease, coined "Laron syndrome" (LS; Online Mendelian Inheritance in Man# 262500).<br><br>RESULTS: During childhood, LS patients grow slowly, have a retarded bone age and sexual development, but reach full sexual development. The treatment of LS is recombinant IGF-1, which stimulates the linear growth but increases the degree of obesity. Adult-age patients with congenital IGF-1 deficiency are protected from cancer but can develop insulin resistance, glucose intolerance, diabetes, and cardiovascular disease. Due to pathologic changes in the brain related to the type of molecular defect in the GH receptor, they vary in their intellectual capacity. A number of LS patients marry, and with help of pregestational genetic diagnosis, have healthy children.<br><br>CONCLUSION: LS is a unique disease model presenting a dissociation between GH and IGF-1 activity.}, }
@article {pmid26392355, year = {2015}, author = {Portin, P}, title = {The Development of Genetics in the Light of Thomas Kuhn's Theory of Scientific Revolutions.}, journal = {Recent advances in DNA &amp; gene sequences}, volume = {9}, number = {1}, pages = {14-25}, doi = {10.2174/2352092209666150921110920}, pmid = {26392355}, issn = {2352-0930}, mesh = {Genetics/*history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Science/*history/trends ; }, abstract = {The concept of a paradigm is in the key position in Thomas Kuhn's theory of scientific revolutions. A paradigm is the framework within which the results, concepts, hypotheses and theories of scientific research work are understood. According to Kuhn, a paradigm guides the working and efforts of scientists during the time period which he calls the period of normal science. Before long, however, normal science leads to unexplained matters, a situation that then leads the development of the scientific discipline in question to a paradigm shift--a scientific revolution. When a new theory is born, it has either gradually emerged as an extension of the past theory, or the old theory has become a borderline case in the new theory. In the former case, one can speak of a paradigm extension. According to the present author, the development of modern genetics has, until very recent years, been guided by a single paradigm, the Mendelian paradigm which Gregor Mendel launched 150 years ago, and under the guidance of this paradigm the development of genetics has proceeded in a normal fashion in the spirit of logical positivism. Modern discoveries in genetics have, however, created a situation which seems to be leading toward a paradigm shift. The most significant of these discoveries are the findings of adaptive mutations, the phenomenon of transgenerational epigenetic inheritance, and, above all, the present deeply critical state of the concept of the gene.}, }
@article {pmid26391791, year = {2016}, author = {Serpente, N}, title = {More than a Mentor: Leonard Darwin's Contribution to the Assimilation of Mendelism into Eugenics and Darwinism.}, journal = {Journal of the history of biology}, volume = {49}, number = {3}, pages = {461-494}, pmid = {26391791}, issn = {1573-0387}, mesh = {*Biological Evolution ; Biometry/history ; Correspondence as Topic/history ; Eugenics/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Mentors/history ; Mutation ; *Selection, Genetic ; United Kingdom ; }, abstract = {This article discusses the contribution to evolutionary theory of Leonard Darwin (1850-1943), the eighth child of Charles Darwin. By analysing the correspondence Leonard Darwin maintained with Ronald Aylmer Fisher in conjunction with an assessment of his books and other written works between the 1910s and 1930s, this article argues for a more prominent role played by him than the previously recognised in the literature as an informal mentor of Fisher. The paper discusses Leonard's efforts to amalgamate Mendelism with both Eugenics and Darwinism in order for the first to base their policies on new scientific developments and to help the second in finding a target for natural selection. Without a formal qualification in biological sciences and as such mistrusted by some "formal" scientists, Leonard Darwin engaged with key themes of Darwinism such as mimicry, the role of mutations on speciation and the process of genetic variability, arriving at important conclusions concerning the usefulness of Mendelian genetics for his father's theory.}, }
@article {pmid26386529, year = {2015}, author = {Sarkar, S}, title = {Nagel on reduction.}, journal = {Studies in history and philosophy of science}, volume = {53}, number = {}, pages = {43-56}, doi = {10.1016/j.shpsa.2015.05.006}, pmid = {26386529}, issn = {0039-3681}, mesh = {Empiricism/*history ; History, 20th Century ; *Knowledge ; Science/*history ; }, abstract = {This paper attempts a critical reappraisal of Nagel's (1961, 1970) model of reduction taking into account both traditional criticisms and recent defenses. This model treats reduction as a type of explanation in which a reduced theory is explained by a reducing theory after their relevant representational items have been suitably connected. In accordance with the deductive-nomological model, the explanation is supposed to consist of a logical deduction. Nagel was a pluralist about both the logical form of the connections between the reduced and reducing theories (which could be conditionals or biconditionals) and their epistemological status (as analytic connections, conventions, or synthetic claims). This paper defends Nagel's pluralism on both counts and, in the process, argues that the multiple realizability objection to reductionism is misplaced. It also argues that the Nagel model correctly characterizes reduction as a type of explanation. However, it notes that logical deduction must be replaced by a broader class of inferential techniques that allow for different types of approximation. Whereas Nagel (1970), in contrast to his earlier position (1961), recognized the relevance of approximation, he did not realize its full import for the model. Throughout the paper two case studies are used to illustrate the arguments: the putative reduction of classical thermodynamics to the kinetic theory of matter and that of classical genetics to molecular biology.}, }
@article {pmid26385728, year = {2016}, author = {Williams, N}, title = {Irene Manton, Erwin Schrödinger and the Puzzle of Chromosome Structure.}, journal = {Journal of the history of biology}, volume = {49}, number = {3}, pages = {425-459}, pmid = {26385728}, issn = {1573-0387}, mesh = {Botany/*history ; *Chromosome Structures ; Correspondence as Topic/*history ; Genes, Plant ; History, 20th Century ; Phylogeny ; Plants/*genetics ; United Kingdom ; }, abstract = {Erwin Schrödinger's 1944 publication What is Life? is a classic of twentieth century science writing. In his book, Schrödinger discussed the chromosome fibre as the seat of heredity and variation thanks to a hypothetical aperiodic structure - a suggestion that famously spurred on a generation of scientists in their pursuit of the gene as a physico-chemical entity. While historical attention has been given to physicists who were inspired by the book, little has been written about its biologist readers. This paper examines the case of the English evolutionary botanist and cytologist Irène Manton, who took an interest in What is Life? for its relevance to her own research in chromosome structure as a clue to plant phylogeny. Drawing on recently discovered correspondence between Manton and Schrödinger, the paper reconstructs Manton 's path to the book (including the role of the chemist-philosopher Michael Polanyi) and her response to it by way of throwing new light on a pivotal moment in the history of the debate on chromosome structure.}, }
@article {pmid26351665, year = {2015}, author = {Günther, T and Valdiosera, C and Malmström, H and Ureña, I and Rodriguez-Varela, R and Sverrisdóttir, &#xd3;O and Daskalaki, EA and Skoglund, P and Naidoo, T and Svensson, EM and Bermúdez de Castro, JM and Carbonell, E and Dunn, M and Storå, J and Iriarte, E and Arsuaga, JL and Carretero, JM and Götherström, A and Jakobsson, M}, title = {Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {38}, pages = {11917-11922}, pmid = {26351665}, issn = {1091-6490}, mesh = {DNA/*genetics ; Farmers/*history ; Gene Pool ; *Genome ; Geography ; History, Ancient ; Humans ; Population Dynamics ; Principal Component Analysis ; Sequence Analysis, DNA ; Spain ; }, abstract = {The consequences of the Neolithic transition in Europe--one of the most important cultural changes in human prehistory--is a subject of great interest. However, its effect on prehistoric and modern-day people in Iberia, the westernmost frontier of the European continent, remains unresolved. We present, to our knowledge, the first genome-wide sequence data from eight human remains, dated to between 5,500 and 3,500 years before present, excavated in the El Portalón cave at Sierra de Atapuerca, Spain. We show that these individuals emerged from the same ancestral gene pool as early farmers in other parts of Europe, suggesting that migration was the dominant mode of transferring farming practices throughout western Eurasia. In contrast to central and northern early European farmers, the Chalcolithic El Portalón individuals additionally mixed with local southwestern hunter-gatherers. The proportion of hunter-gatherer-related admixture into early farmers also increased over the course of two millennia. The Chalcolithic El Portalón individuals showed greatest genetic affinity to modern-day Basques, who have long been considered linguistic and genetic isolates linked to the Mesolithic whereas all other European early farmers show greater genetic similarity to modern-day Sardinians. These genetic links suggest that Basques and their language may be linked with the spread of agriculture during the Neolithic. Furthermore, all modern-day Iberian groups except the Basques display distinct admixture with Caucasus/Central Asian and North African groups, possibly related to historical migration events. The El Portalón genomes uncover important pieces of the demographic history of Iberia and Europe and reveal how prehistoric groups relate to modern-day people.}, }
@article {pmid26281764, year = {2015}, author = {Dronamraju, K}, title = {J.B.S. Haldane as I knew him, with a brief account of his contribution to mutation research.}, journal = {Mutation research. Reviews in mutation research}, volume = {765}, number = {}, pages = {1-6}, doi = {10.1016/j.mrrev.2015.05.002}, pmid = {26281764}, issn = {1388-2139}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; India ; *Mutation ; }, abstract = {J.B.S. Haldane made important contributions to several sciences although he did not possess an academic qualification in any branch of science. A classical scholar, who grew up in a scientific household in Oxford, Haldane was taught the principles of scientific experimentation from his childhood by his father, the distinguished physiologist John Scott Haldane. Collaborating with his father, Haldane contributed to respiratory physiology but soon switched to genetics, especially population genetics. He investigated mathematically the dynamics of selection - mutation balance in populations - concluding that it is mutation that determines the course of evolution. Besides genetics, Haldane was noted for his important contributions to enzyme kinetics, origin of life, biometry, cybernetics, cosmology and deep sea diving, among others.}, }
@article {pmid26205203, year = {2015}, author = {Zwart, H}, title = {The Third Man: comparative analysis of a science autobiography and a cinema classic as windows into post-war life sciences research.}, journal = {History and philosophy of the life sciences}, volume = {37}, number = {4}, pages = {382-412}, pmid = {26205203}, issn = {0391-9714}, mesh = {*Autobiographies as Topic ; DNA/analysis/*history ; Genetics/*history ; History, 20th Century ; *Motion Pictures ; Philosophy ; United Kingdom ; Warfare ; }, abstract = {In 2003, biophysicist and Nobel Laureate Maurice Wilkins published his autobiography entitled The Third Man. In the preface, he diffidently points out that the title (which presents him as the 'third' man credited with the co-discovery of the structure of DNA, besides Watson and Crick) was chosen by his publisher, as a reference to the famous 1949 movie no doubt, featuring Orson Welles in his classical role as penicillin racketeer Harry Lime. In this paper I intend to show that there is much more to this title than merely its familiar ring. If subjected to a (psychoanalytically inspired) comparative analysis, multiple correspondences between movie and memoirs can be brought to the fore. Taken together, these documents shed an intriguing light on the vicissitudes of budding life sciences research during the post-war era. I will focus my comparative analysis on issues still relevant today, such as dual use, the handling of sensitive scientific information (in a moral setting defined by the tension between collaboration and competition) and, finally, on the interwovenness of science and warfare (i.e. the 'militarisation' of research and the relationship between beauty and destruction). Thus, I will explain how science autobiographies on the one hand and genres of the imagination (such as novels and movies) on the other may deepen our comprehension of tensions and dilemmas of life sciences research then and now. For that reason, science autobiographies can provide valuable input (case material) for teaching philosophy and history of science to science students.}, }
@article {pmid26188070, year = {2015}, author = {Nutt, SL and Heavey, B and Rolink, AG and Busslinger, M}, title = {Pillars Article: Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. Nature. 1999. 401: 556-562.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {195}, number = {3}, pages = {766-772}, pmid = {26188070}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocytes/*cytology ; Cell Differentiation/immunology ; Hematopoietic Stem Cells/*cytology ; History, 20th Century ; Humans ; Mice ; PAX5 Transcription Factor/genetics/*history/immunology ; }, }
@article {pmid26183796, year = {2015}, author = {Wood, RJ}, title = {Darbishire expands his vision of heredity from Mendelian genetics to inherited memory.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {53}, number = {}, pages = {16-39}, doi = {10.1016/j.shpsc.2015.06.001}, pmid = {26183796}, issn = {1879-2499}, mesh = {England ; Female ; Genetics/*history ; *Heredity ; History, 19th Century ; History, 20th Century ; Humans ; *Memory ; }, abstract = {The British biologist A.D. Darbishire (1879-1915) responded to the rediscovery in 1900 of Mendel's theory of heredity by testing it experimentally, first in Oxford, then in Manchester and London. He summarised his conclusions in a textbook 'Breeding and the Mendelian Discovery' (1911), in which he questioned whether Mendelism alone could explain all aspects of practical breeding experience. Already he had begun to think about an alternative theory to give greater emphasis to the widely held conviction among breeders regarding the inheritance of characteristics acquired during an individual's life. Redefining heredity in terms of a germ-plasm based biological memory, he used vocabulary drawn partly from sources outside conventional science, including the metaphysical/vitalistic writings of Samuel Butler and Henri Bergson. An evolving hereditary memory fitted well with the conception of breeding as a creative art aimed at greater economic efficiency. For evolution beyond human control he proposed a self-modifying process, claiming it to surpass in efficiency the chancy mechanism of natural selection proposed by Darwin. From his writings, including early chapters of an unfinished book entitled 'An Introduction to a Biology', we consider how he reached these concepts and how they relate to later advances in understanding the genome and the genetic programme.}, }
@article {pmid26050521, year = {2015}, author = {Teive, HA and Moro, A and Moscovich, M and Arruda, WO and Munhoz, RP and Raskin, S and Ashizawa, T}, title = {Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.}, journal = {Journal of the neurological sciences}, volume = {355}, number = {1-2}, pages = {3-6}, pmid = {26050521}, issn = {1878-5883}, support = {R01 NS083564/NS/NINDS NIH HHS/United States ; NS083564/NS/NINDS NIH HHS/United States ; }, mesh = {Animals ; Ataxia Telangiectasia/*diagnosis/genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Protein Serine-Threonine Kinases/genetics ; PubMed/statistics &amp; numerical data ; }, abstract = {The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity.}, }
@article {pmid26034969, year = {2015}, author = {}, title = {New clues to a second genetic system.}, journal = {JAMA}, volume = {313}, number = {21}, pages = {2187}, doi = {10.1001/jama.2014.11786}, pmid = {26034969}, issn = {1538-3598}, mesh = {Animals ; DNA, Mitochondrial/*history/isolation &amp; purification ; DNA, Neoplasm/history/isolation &amp; purification ; History, 20th Century ; Humans ; }, }
@article {pmid26013644, year = {2015}, author = {Nash, R}, title = {William Keith Brooks and the naturalist's defense of Darwinism in the late-nineteenth century.}, journal = {History and philosophy of the life sciences}, volume = {37}, number = {2}, pages = {158-179}, doi = {10.1007/s40656-015-0060-3}, pmid = {26013644}, issn = {0391-9714}, mesh = {*Biological Evolution ; *Heredity ; History, 19th Century ; Natural History/*history ; *Selection, Genetic ; }, abstract = {William Keith Brooks was an American zoologist at Johns Hopkins University from 1876 until his death in 1908. Over the course of his career, Brooks staunchly defended Darwinism, arguing for the centrality of natural selection in evolutionary theory at a time when alternative theories, such as neo-Lamarckism, grew prominent in American biology. In his book The Law of Heredity (1883), Brooks addressed problems raised by Darwin's theory of pangenesis. In modifying and developing Darwin's pangenesis, Brooks proposed a new theory of heredity that sought to avoid the pitfalls of Darwin's hypothesis. In so doing he strengthened Darwin's theory of natural selection by undermining arguments for the inheritance of acquired characteristics. In later attacks on neo-Lamarckism, Brooks consistently defended Darwin's theory of natural selection on logical grounds, continued to challenge the idea of the inheritance of acquired characteristics, and argued that natural selection best explained a wide range of adaptations. Finally, he critiqued Galton's statistical view of heredity and argued that Galton had resurrected an outmoded typological concept of species, one which Darwin and other naturalists had shown to be incorrect. Brooks's ideas resemble the "biological species concept" of the twentieth century, as developed by evolutionary biologist Ernst Mayr and others. The late-nineteenth century was not a period of total "eclipse" of Darwinism, as biologists and historians have hitherto seen it. Although the "Modern Synthesis" refers to the reconciliation of post-Mendelian genetics with evolution by natural selection, we might adjust our understanding of how the synthesis developed by seeing it as the culmination of a longer discussion that extends back to the late-nineteenth century.}, }
@article {pmid26013313, year = {2015}, author = {Gausemeier, B}, title = {Pedigrees of madness: the study of heredity in nineteenth and early twentieth century psychiatry.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {4}, pages = {467-483}, doi = {10.1007/s40656-014-0050-x}, pmid = {26013313}, issn = {0391-9714}, mesh = {Genetic Diseases, Inborn/*history ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; Mental Disorders/genetics/*history ; Psychiatry/*history/methods ; Statistics as Topic/*history ; }, abstract = {This article discusses the development of the statistical methods employed by psychiatrists to study heredity as a causative factor of mental diseases. It argues that psychiatric asylums and clinics were the first institutions in which human heredity became the object of systematic research. It also highlights the different concepts of heredity prevalent in the psychiatric community. The first of four parts traces how heredity became a central category of asylum statistics in the first half of the nineteenth century. The second part deals with attempts to introduce new methods of surveying in order to generate more precise data about psychopathological inheritance in the 1860s and 1870s. The third part discusses how, by the end of the nineteenth century, a widespread discontent with the results of asylum statistics led to an increasing interest in the use of family studies. Finally, the fourth part examines the impact of Mendelian theory on psychiatric statistics in the early twentieth century.}, }
@article {pmid25980028, year = {2015}, author = {Stepp, SE and Dufourcq-Lagelouse, R and Kumar, V}, title = {Pillars article: Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999. 286: 1957-1959.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {194}, number = {11}, pages = {5044-5046}, pmid = {25980028}, issn = {1550-6606}, mesh = {Chromosomes, Human, Pair 10/*genetics ; Cytotoxicity, Immunologic/genetics ; History, 20th Century ; Humans ; Lymphocyte Activation/immunology ; Lymphohistiocytosis, Hemophagocytic/genetics/*history/immunology ; Macrophages/immunology ; Perforin/genetics/*history ; T-Lymphocytes, Cytotoxic/chemistry/immunology ; }, }
@article {pmid25929363, year = {2015}, author = {Carnero, EA and Alvero-Cruz, JR and Giráldez García, MA and Sardinha, LB}, title = {["In vivo" body composition assessment; part I: a historic overview].}, journal = {Nutricion hospitalaria}, volume = {31}, number = {5}, pages = {1957-1967}, doi = {10.3305/nh.2015.31.5.8570}, pmid = {25929363}, issn = {1699-5198}, mesh = {*Body Composition ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; Physiology/*history ; }, abstract = {The study of body composition (BC) has gained in relevance over the last decades, mainly because of its important health- and disease- related applications within both the clinical and the sports setting. It is not a new area, and its especial relevance as an area of biology dates from the second half of the nineteenth century. In this paper, we have reviewed the three historic periods of BC, with special reference to the most important advances in in vivo assessment. Even though the earliest findings about human BC date from antiquity, the first (or 'early') stage of discovery began in 1850. Said early stage was mainly characterized by data obtained from the dissection of cadavers and by the application of biochemical methods in vivo. Longitudinal changes in body composition were also a concern. The second (so called 'recent') stage, in the second half of the twentieth century, was marked by milestones such as the formulation of the first mathematical models for the estimation of body components, and technological advances. Within the third ('contemporary' or 'current') stage of research, several groups have focused on validating the classical BC models in specific populations, on analysis of the genetic determinants (i.e. phenotypes and, more recently genotypes) of body composition, and on re-instigating the study of dynamic BC.}, }
@article {pmid25857936, year = {2015}, author = {Teschler-Nicola, M and Novotny, F and Spannagl-Steiner, M and Stadler, P and Prohaska, T and Irrgeher, J and Zitek, A and Däubl, B and Haring, E and Rumpelmayr, K and Wild, EM}, title = {The Early Mediaeval manorial estate of Gars/Thunau, Lower Austria: An enclave of endemic tuberculosis?.}, journal = {Tuberculosis (Edinburgh, Scotland)}, volume = {95 Suppl 1}, number = {}, pages = {S51-9}, doi = {10.1016/j.tube.2015.02.017}, pmid = {25857936}, issn = {1873-281X}, mesh = {Adolescent ; Adult ; Age Distribution ; Aged ; Analysis of Variance ; Austria/epidemiology ; Carbon Isotopes/analysis ; Child ; Child, Preschool ; DNA, Bacterial/genetics ; Diet/history ; Endemic Diseases/*history ; Female ; History, Medieval ; Humans ; Infant ; Male ; Middle Aged ; Mycobacterium tuberculosis/genetics ; Nitrogen Isotopes/analysis ; Paleopathology ; Pilot Projects ; Strontium Isotopes/analysis ; Tuberculosis, Osteoarticular/*epidemiology/genetics/history ; Young Adult ; }, abstract = {In recent decades, an increasing number of studies have aimed to shed light on the origin and spread of tuberculosis in past human populations. Here we present the results of a systematic palaeodemographic and palaeopathological survey of the Early Mediaeval population of Gars/Thunau (Lower Austria), which - at this stage - includes 373 individuals recovered at two archaeological sub-sites: a fortified settlement (including a necropolis) at the top of a hill - probably reserved for social and military elites; and a large riverine settlement at the foot of the hill, a so-called 'suburbium', where burials and an area of 'industrial' character were discovered. We recorded a great number of pathological alterations and a variety of 'classical' features of tuberculosis, such as vertebral destructions (Pott's disease) and joint destructions, and other pathological (unspecific) features probably linked with Mycobacterium tuberculosis infection (e.g. new bone formation at the inner surface of the ribs, endocranial alterations in the form of 'pits', and new bone formation at the cranial base). We hypothesize that the two contemporaneous (∼900-1000 AD) populations of Gars/Thunau differed not only in their social affiliation/condition, but also in the type and frequencies of their population-density-related infectious diseases (in particular tuberculosis). Moreover, we investigated the molecular genetic evidence of the causative organism in a few selected immatures exhibiting pathological changes at the inner wall of the cranium and discuss these findings in regard to the macroscopic features observed. Finally, we analysed carbon and nitrogen stable isotopes of both populations and strontium isotope ratios of the hill-top inhabitants in order to reconstruct certain aspects of diet and mobility to test our hypothesis concerning the specific social and/or military character of the site.}, }
@article {pmid25855309, year = {2015}, author = {Lindstedt, SL and Nishikawa, KC}, title = {From Tusko to Titin: the role for comparative physiology in an era of molecular discovery.}, journal = {American journal of physiology. Regulatory, integrative and comparative physiology}, volume = {308}, number = {12}, pages = {R983-9}, doi = {10.1152/ajpregu.00405.2014}, pmid = {25855309}, issn = {1522-1490}, mesh = {Animals ; Connectin/*metabolism ; Crotalus/*metabolism ; Elephants/*physiology ; Energy Metabolism ; Energy Transfer ; Hallucinogens/administration &amp; dosage ; History, 20th Century ; Humans ; Lysergic Acid Diethylamide/administration &amp; dosage ; Male ; Molecular Biology/*trends ; *Muscle Contraction ; Muscle, Skeletal/*metabolism ; Physical Endurance ; Physiology, Comparative/history/*trends ; Ruminants/*metabolism ; }, abstract = {As we approach the centenary of the term "comparative physiology," we reexamine its role in modern biology. Finding inspiration in Krogh's classic 1929 paper, we first look back to some timeless contributions to the field. The obvious and fascinating variation among animals is much more evident than is their shared physiological unity, which transcends both body size and specific adaptations. The "unity in diversity" reveals general patterns and principles of physiology that are invisible when examining only one species. Next, we examine selected contemporary contributions to comparative physiology, which provides the context in which reductionist experiments are best interpreted. We discuss the sometimes surprising insights provided by two comparative "athletes" (pronghorn and rattlesnakes), which demonstrate 1) animals are not isolated molecular mechanisms but highly integrated physiological machines, a single "rate-limiting" step may be exceptional; and 2) extremes in nature are rarely the result of novel mechanisms, but rather employ existing solutions in novel ways. Furthermore, rattlesnake tailshaker muscle effectively abolished the conventional view of incompatibility of simultaneous sustained anaerobic glycolysis and oxidative ATP production. We end this review by looking forward, much as Krogh did, to suggest that a comparative approach may best lend insights in unraveling how skeletal muscle stores and recovers mechanical energy when operating cyclically. We discuss and speculate on the role of the largest known protein, titin (the third muscle filament), as a dynamic spring capable of storing and recovering elastic recoil potential energy in skeletal muscle.}, }
@article {pmid25794469, year = {2015}, author = {Pósa, A and Maixner, F and Sola, C and Bereczki, Z and Molnár, E and Masson, M and Lovász, G and Spekker, O and Wicker, E and Perrin, P and Dutour, O and Zink, A and Pálfi, G}, title = {Tuberculosis infection in a late-medieval Hungarian population.}, journal = {Tuberculosis (Edinburgh, Scotland)}, volume = {95 Suppl 1}, number = {}, pages = {S60-4}, doi = {10.1016/j.tube.2015.02.010}, pmid = {25794469}, issn = {1873-281X}, mesh = {Adolescent ; Adult ; Aged ; Child ; DNA, Bacterial/genetics ; Female ; Genome, Bacterial/genetics ; History, Medieval ; Humans ; Hungary ; Infant ; Male ; Middle Aged ; Mycobacterium tuberculosis/genetics ; Paleopathology ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid/genetics ; Tuberculosis, Osteoarticular/genetics/*history ; Young Adult ; }, abstract = {The AD 16-17(th) century skeletal series from Bácsalmás-Óalmás (southern Hungary) has already been the subject of previous paleopathological studies concerning TB-related bone lesions. Due to recent development of macroscopic and molecular diagnostic methods in paleopathology and paleomicrobiology, a five-year international research program was recently started in order to re-evaluate the TB-related lesions in the complete series, comprising 481 skeletons. The skeletal material of these individuals was examined using macromorphological methods focusing on both classical/advanced stage skeletal TB alterations and atypical/early-stage TB lesions. Paleomicrobial analysis was used to study the presence of Mycobacterium tuberculosis complex (MTBC) DNA both in morphologically positive and negative cases. Samples were tested for the repetitive element IS6110 and further characterized by spoligotyping. In the whole series, 283 possible cases of TB infections were identified based on morphological alterations. Skeletal samples of eighteen individuals, morphologically positive as well as negative cases, were selected for further biomolecular examinations. Among them, seven individuals were PCR positive for the repetitive IS6110 sequence of the MTBC genome. Compared to the few cases of TB from the Bácsalmás-Óalmás series previously described, a much higher prevalence of MTBC infected skeletons was revealed in this study. The atypical/early stage skeletal lesions occurred significantly more frequently than the so-called classical alterations. Paleomicrobial analysis confirmed a prevalence of MTBC infection nearing 40% among the selected sample. Preliminary results also indicated better preservation of bacterial DNA in the compact layer of long bones and teeth, while spoligotyping suggested infection by different MTBC pathogens.}, }
@article {pmid25788723, year = {2015}, author = {Noble, D}, title = {Conrad Waddington and the origin of epigenetics.}, journal = {The Journal of experimental biology}, volume = {218}, number = {Pt 6}, pages = {816-818}, doi = {10.1242/jeb.120071}, pmid = {25788723}, issn = {1477-9145}, mesh = {*Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; Humans ; Phenotype ; }, abstract = {Denis Noble discusses Conrad Waddington's classic paper, "The genetic assimilation of the bithorax phenotype", published in Evolution in 1956.}, }
@article {pmid25750230, year = {2015}, author = {Bell, G}, title = {Every inch a finch: a commentary on Grant (1993) 'Hybridization of Darwin's finches on Isla Daphne Major, Galapagos'.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {370}, number = {1666}, pages = {}, pmid = {25750230}, issn = {1471-2970}, mesh = {Animals ; *Biological Evolution ; Ecuador ; Finches/*genetics ; History, 20th Century ; Hybridization, Genetic/*genetics ; *Phenotype ; Species Specificity ; Zoology/*history ; }, abstract = {One of the most familiar features of the natural world is that most animals and plants fall into distinct categories known as species. The attempt to understand the nature of species and the origin of new species was the enterprise that drove the early development of evolutionary biology and has continued to be a major focus of research. Individuals belonging to the same species usually share a distinctive appearance and way of life, and they can mate together successfully and produce viable offspring. New species may evolve, therefore, either through ecological divergence or through sexual isolation. The balance between these processes will depend on the extent of hybridization, especially in the early stages of divergence. Detecting and measuring hybridization in natural populations, however, requires intensive, long-term field programmes that are seldom undertaken, leaving a gap in our understanding of species formation. The finch community of a small, isolated island in the Galapagos provided an opportunity to discover how frequently hybridization takes place between closely related species in a pristine location, and Peter Grant's paper, published in Philosophical Transactions B in 1993, reports the observations that he and his collaborators made during the first 20 years of what is now one of the classical studies of evolution in action. This commentary was written to celebrate the 350th anniversary of the journal Philosophical Transactions of the Royal Society.}, }
@article {pmid25722413, year = {2015}, author = {Smith, O and Momber, G and Bates, R and Garwood, P and Fitch, S and Pallen, M and Gaffney, V and Allaby, RG}, title = {Archaeology. Sedimentary DNA from a submerged site reveals wheat in the British Isles 8000 years ago.}, journal = {Science (New York, N.Y.)}, volume = {347}, number = {6225}, pages = {998-1001}, doi = {10.1126/science.1261278}, pmid = {25722413}, issn = {1095-9203}, mesh = {DNA, Plant/genetics/*history ; Fossils ; Geologic Sediments/chemistry ; History, Ancient ; Triticum/anatomy &amp; histology/genetics/*history ; United Kingdom ; }, abstract = {The Mesolithic-to-Neolithic transition marked the time when a hunter-gatherer economy gave way to agriculture, coinciding with rising sea levels. Bouldnor Cliff, is a submarine archaeological site off the Isle of Wight in the United Kingdom that has a well-preserved Mesolithic paleosol dated to 8000 years before the present. We analyzed a core obtained from sealed sediments, combining evidence from microgeomorphology and microfossils with sedimentary ancient DNA (sedaDNA) analyses to reconstruct floral and faunal changes during the occupation of this site, before it was submerged. In agreement with palynological analyses, the sedaDNA sequences suggest a mixed habitat of oak forest and herbaceous plants. However, they also provide evidence of wheat 2000 years earlier than mainland Britain and 400 years earlier than proximate European sites. These results suggest that sophisticated social networks linked the Neolithic front in southern Europe to the Mesolithic peoples of northern Europe.}, }
@article {pmid25710957, year = {2015}, author = {Petersen-Mahrt, SK and Harris, RS and Neuberger, MS}, title = {Pillars article: AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature. 2002. 418: 99-103.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {194}, number = {5}, pages = {2043-2047}, pmid = {25710957}, issn = {1550-6606}, support = {MC_U105178806/MRC_/Medical Research Council/United Kingdom ; }, mesh = {Allergy and Immunology/*history ; Cytidine Deaminase/*genetics/immunology/metabolism ; Deamination ; Escherichia coli/enzymology/*genetics/immunology ; Escherichia coli Proteins/*genetics/immunology/metabolism ; Genetic Engineering/*history ; History, 21st Century ; Humans ; Immunoglobulin Class Switching ; Immunoglobulins/*genetics/immunology/metabolism ; Recombinant Proteins/genetics/immunology/metabolism ; }, }
@article {pmid25671842, year = {2015}, author = {Scherrer, JF and Xian, H and Slutske, WS and Eisen, SA and Potenza, MN}, title = {Associations between obsessive-compulsive classes and pathological gambling in a national cohort of male twins.}, journal = {JAMA psychiatry}, volume = {72}, number = {4}, pages = {342-349}, doi = {10.1001/jamapsychiatry.2014.2497}, pmid = {25671842}, issn = {2168-6238}, support = {R01 MH060426/MH/NIMH NIH HHS/United States ; MH60426/MH/NIMH NIH HHS/United States ; }, mesh = {Cohort Studies ; Diagnostic and Statistical Manual of Mental Disorders ; Diseases in Twins/classification/complications/diagnosis/*genetics ; Gambling/classification/*complications/*genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Models, Statistical ; Obsessive-Compulsive Disorder/classification/*complications/diagnosis/*genetics ; Registries ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics ; Veterans/psychology/statistics &amp; numerical data ; Vietnam Conflict ; }, abstract = {IMPORTANCE: Because of shared characteristics, pathological gambling (PG) has been variously conceptualized as an obsessive-compulsive (OC) spectrum disorder or as an addictive disorder. Prior community-based studies have not systematically determined the association between PG and OC features and whether common genetic factors contribute to both conditions.<br><br>OBJECTIVE: To examine the association and genetic correlation between PG and OC features.<br><br>We performed a latent class analysis (LCA) of OC features, cross-sectional tests of association, and classic twin genetic analysis using results of telephone interviews conducted from March 2002 through November 2003. Participants included 1675 male twin pairs from the Vietnam Era Twin Registry, aged 45 to 60 years.<br><br>MAIN OUTCOMES AND MEASURES: Ten OC features were queried and used to derive OC classes identified via LCA.<br><br>RESULTS: The best-fitting LCA model identified the following 4 OC classes: unaffected (class 1), ritual/symmetry compulsions (class 2), germ/contamination obsessions (class 3), and severe OC (class 4). All PG symptoms were more common in class 4 OC and 6 of 10 PG symptoms were significantly more common in class 4 OC (P&#x2009;<&#x2009;.01). Participants in the severe class were most likely to have 4 or more DSM-IV or DSM-5 PG diagnostic criteria (odds ratio, 3.8 [95% CI, 1.8-8.2]). The genetic correlation between phenotypes was 0.44 (95% CI, 0.16-0.75).<br><br>CONCLUSIONS AND RELEVANCE: The association between OC features and diagnostic criteria for PG highlights a role of obsessions and compulsivity in PG, and the lifetime co-occurrence of these disorders results in part from common genetic variance. Phenotypic and genetic overlap between OC features and PG add to our understanding of the most appropriate classification of PG and offers insights for treatment development.}, }
@article {pmid25665382, year = {2014}, author = {Seth, S}, title = {Relocating race: introdution.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {105}, number = {4}, pages = {759-763}, doi = {10.1086/679422}, pmid = {25665382}, issn = {0021-1753}, mesh = {Biological Science Disciplines/*history ; *Genetic Variation ; History, 19th Century ; History, 20th Century ; Humans ; Philosophy/*history ; Racial Groups/*history ; }, abstract = {The essays here reconsider some of the basal assumptions in Nancy Stepan's now-classic The Idea of Race in Science (1982). Stepan's book focused, for the most part, on metropolitan scientists from 1800 to 1960. The present contributions seek to "relocate" race along one (at least) of three axes: discipline, geography, period. The aim overall is not so much to make the fairly obvious point that "racial" thinking was different in different times and places; rather, the essays seek to use accounts of the relocation of race to "make strange" our assumptions about the conditions of possibility for nineteenth- and early twentieth-century race science in its once-canonical form.}, }
@article {pmid25596298, year = {2015}, author = {Nehls, M and Pfeifer, D and Schorpp, M and Hedrich, H and Boehm, T}, title = {Pillars article: new member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature. 1994. 372: 103-107.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {194}, number = {3}, pages = {849-853}, pmid = {25596298}, issn = {1550-6606}, mesh = {Animals ; History, 20th Century ; Mice ; Mice, Nude ; *Mutation ; Rats ; Rats, Nude ; Winged-Helix Transcription Factors/*genetics ; }, }
@article {pmid25588300, year = {2014}, author = {Bengtsson, BO}, title = {Strange history: the fall of Rome explained in Hereditas.}, journal = {Hereditas}, volume = {151}, number = {6}, pages = {132-139}, doi = {10.1111/hrd2.00080}, pmid = {25588300}, issn = {1601-5223}, mesh = {*Genome, Human ; History, Ancient ; Humanism/history ; Humans ; Periodicals as Topic/history ; Racial Groups/genetics/*history ; Roman World/*history ; Sweden ; }, abstract = {In 1921 Hereditas published an article on the fall of Rome written by the famous classical scholar Martin P:son Nilsson. Why was a paper on this unexpected topic printed in the newly founded journal? To Nilsson, the demise of the Roman Empire was explained by the "bastardization" occurring between "races" from different parts of the realm. Offspring from mixed couples were of a less stable "type" than their parents, due to the breaking up by recombination of the original hereditary dispositions, which led to a general loss of competence to rule and govern. Thus, the "hardness" of human genes, together with their recombination, was - according to Nilsson - the main cause of the fall of Rome. Nilsson's argument is not particularly convincingly presented. Human "races" are taken to have the same genetic structure as inbred crop strains, and Nilsson believes in a metaphysical unity between the individual and the race to which it belongs. However, in my view, Martin P:son Nilsson and his friend Herman Nilsson-Ehle had wider aims with the article than to explain a historical event. The article can be read as indicating strong support from the classical human sciences to the ambitious new science of genetics. Support is also transferred from genetics to the conservative worldview, where the immutability and inflexibility of the Mendelian genes are used to strengthen the wish for greater stability in politics and life. The strange article in Hereditas can, thus, be read as an early instance in the - still ongoing - tug-of-war between the conservative and the liberal ideological poles over how genetic results best are socially interpreted.}, }
@article {pmid25573274, year = {2015}, author = {Leduc-Galindo, D and Gloria-Herrera, U and Ramos-Jiménez, J and Garcia-Luna, S and Arellanos-Soto, D and Mendoza-Tavera, N and Tavitas-Aguilar, I and Garcia-Garcia, E and Galindo-Galindo, E and Villarreal-Perez, J and Fernandez-Salas, I and Santiago, GA and Muñoz-Jordan, J and Rivas-Estilla, AM}, title = {Characterization of the dengue outbreak in Nuevo Leon state, Mexico, 2010.}, journal = {Infection}, volume = {43}, number = {2}, pages = {201-206}, pmid = {25573274}, issn = {1439-0973}, mesh = {Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Dengue/*epidemiology/history/*virology ; *Dengue Virus/classification/genetics ; *Disease Outbreaks ; Female ; Genotype ; History, 21st Century ; Humans ; Infant ; Male ; Mexico/epidemiology ; Middle Aged ; Phylogeny ; Population Surveillance ; Seasons ; Serogroup ; Severe Dengue/epidemiology/history/*virology ; Young Adult ; }, abstract = {We studied serotypes circulating dengue virus (DENV) cases, entomological Breteau index, rain-fall index and epidemiology of groups affected during the 2010 outbreak in Nuevo Leon, Mexico. From 2,271 positive cases, 94% were dengue classic and 6% dengue hemorrhagic fever; DENV1 was mainly isolated (99%) (Central-American lineage of American-African-genotype). We found correlation between two environmental phenomena (Increment of rainfall and vector-indexes) (p ≤ 0.05) with epidemiological, clinical and risk of DENV-1 ongoing transmission.}, }
@article {pmid25571752, year = {2014}, author = {Vorms, M}, title = {The birth of classical genetics as the junction of two disciplines: conceptual change as representational change.}, journal = {Studies in history and philosophy of science}, volume = {48}, number = {}, pages = {105-116}, doi = {10.1016/j.shpsa.2014.05.007}, pmid = {25571752}, issn = {0039-3681}, mesh = {Cell Biology/*history ; Chromosome Mapping/*history ; Genetics/*history ; History, 19th Century ; *Interdisciplinary Communication ; Models, Genetic ; }, abstract = {The birth of classical genetics in the 1910's was the result of the junction of two modes of analysis, corresponding to two disciplines: Mendelism and cytology. The goal of this paper is to shed some light on the change undergone by the science of heredity at the time, and to emphasize the subtlety of the conceptual articulation of Mendelian and cytological hypotheses within classical genetics. As a way to contribute to understanding how the junction of the two disciplines at play gave birth to a new way of studying heredity, my focus will be on the forms of representation used in genetics research at the time. More particularly, I will study the design and development, by Thomas H. Morgan's group, of the technique of linkage mapping, which embodies the integration of the Mendelian and cytological forms of representation. I will show that the design of this technique resulted in a genuine conceptual change, which should be described as a representational change, rather than merely as the introduction of new hypotheses into genetics.}, }
@article {pmid25547088, year = {2015}, author = {Freeman, HJ}, title = {Celiac disease: a disorder emerging from antiquity, its evolving classification and risk, and potential new treatment paradigms.}, journal = {Gut and liver}, volume = {9}, number = {1}, pages = {28-37}, pmid = {25547088}, issn = {2005-1212}, mesh = {Celiac Disease/*classification/diagnosis/etiology/history/pathology/therapy ; Diet, Gluten-Free ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; Intestinal Mucosa/pathology ; Risk Factors ; }, abstract = {Celiac disease is a chronic genetically based gluten-sensitive immune-mediated enteropathic process primarily affecting the small intestinal mucosa. The disorder classically presents with diarrhea and weight loss; however, more recently, it has been characterized by subclinical occult or latent disease associated with few or no intestinal symptoms. Diagnosis depends on the detection of typical histopathological biopsy changes followed by a gluten-free diet response. A broad range of clinical disorders may mimic celiac disease, along with a wide range of drugs and other therapeutic agents. Recent and intriguing archeological data, largely from the Gobleki Tepe region of the Fertile Crescent, indicate that celiac disease probably emerged as humans transitioned from hunter-gatherer groups to societies dependent on agriculture to secure a stable food supply. Longitudinal studies per-formed over several decades have suggested that changes in the prevalence of the disease, even apparent epidemic disease, may be due to superimposed or novel environmental factors that may precipitate its appearance. Recent therapeutic approaches are being explored that may supplement, rather than replace, gluten-free diet therapy and permit more nutritional options for future management.}, }
@article {pmid25527615, year = {2015}, author = {Kumar, S}, title = {MBE citation classics (2015 edition).}, journal = {Molecular biology and evolution}, volume = {32}, number = {1}, pages = {1-3}, doi = {10.1093/molbev/msu339}, pmid = {25527615}, issn = {1537-1719}, mesh = {Bibliometrics ; *Biological Evolution ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; Periodicals as Topic/*statistics &amp; numerical data ; }, }
@article {pmid25491746, year = {2014}, author = {Höglund, M and Bengtsson, BO}, title = {The origin of the Mendelian Society in Lund and the start of Hereditas.}, journal = {Hereditas}, volume = {151}, number = {6}, pages = {110-114}, doi = {10.1111/hrd2.00078}, pmid = {25491746}, issn = {1601-5223}, mesh = {Genetics/*history ; History, 20th Century ; Periodicals as Topic/history ; Societies, Scientific/*history ; Sweden ; }, abstract = {The Mendelian Society in Lund was founded in 1910. The initiative came from two young biologists supported by a wide circle of interested plant breeders and academics. Already from the start the society was dominated by the towering personality Herman Nilsson-Ehle. After two active years, the Society went into temporal hibernation until it resumed its activities in spring 1916, when Nilsson-Ehle was on his way to become Sweden's first professor of genetics. One of the aims of the Society was to launch a scientific journal for local scientists directed at an international audience. After a successful fundraising campaign, Hereditas was started in 1920. One of the original instigators of the Mendelian Society, Robert Larsson, became its first editor, and he remained in this position for more than 30 years. Both he and Nilsson-Ehle were fascinating personalities, deeply rooted in their time's scientific and ideological debates.}, }
@article {pmid25487340, year = {2015}, author = {Evin, A and Flink, LG and Bălăşescu, A and Popovici, D and Andreescu, R and Bailey, D and Mirea, P and Lazăr, C and Boroneanţ, A and Bonsall, C and Vidarsdottir, US and Brehard, S and Tresset, A and Cucchi, T and Larson, G and Dobney, K}, title = {Unravelling the complexity of domestication: a case study using morphometrics and ancient DNA analyses of archaeological pigs from Romania.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {370}, number = {1660}, pages = {20130616}, pmid = {25487340}, issn = {1471-2970}, mesh = {Animals ; *Biological Evolution ; Body Weights and Measures ; DNA/*genetics/history ; *Fossils ; History, Ancient ; Humans ; *Hybridization, Genetic ; Paleontology/*methods ; Romania ; Sus scrofa/*anatomy &amp; histology/*genetics ; Tooth/anatomy &amp; histology/chemistry ; }, abstract = {Current evidence suggests that pigs were first domesticated in Eastern Anatolia during the ninth millennium cal BC before dispersing into Europe with Early Neolithic farmers from the beginning of the seventh millennium. Recent ancient DNA (aDNA) research also indicates the incorporation of European wild boar into domestic stock during the Neolithization process. In order to establish the timing of the arrival of domestic pigs into Europe, and to test hypotheses regarding the role European wild boar played in the domestication process, we combined a geometric morphometric analysis (allowing us to combine tooth size and shape) of 449 Romanian ancient teeth with aDNA analysis. Our results firstly substantiate claims that the first domestic pigs in Romania possessed the same mtDNA signatures found in Neolithic pigs in west and central Anatolia. Second, we identified a significant proportion of individuals with large molars whose tooth shape matched that of archaeological (likely) domestic pigs. These large 'domestic shape' specimens were present from the outset of the Romanian Neolithic (6100-5500 cal BC) through to later prehistory, suggesting a long history of admixture between introduced domestic pigs and local wild boar. Finally, we confirmed a turnover in mitochondrial lineages found in domestic pigs, possibly coincident with human migration into Anatolia and the Levant that occurred in later prehistory.}, }
@article {pmid25487335, year = {2015}, author = {Krzewińska, M and Bjørnstad, G and Skoglund, P and Olason, PI and Bill, J and Götherström, A and Hagelberg, E}, title = {Mitochondrial DNA variation in the Viking age population of Norway.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {370}, number = {1660}, pages = {20130384}, pmid = {25487335}, issn = {1471-2970}, mesh = {Base Sequence ; Bone and Bones/chemistry ; DNA, Mitochondrial/*genetics/history ; Female ; *Fossils ; Genetic Markers/*genetics ; *Genetic Variation ; Haplotypes/genetics ; History, Medieval ; Human Migration/*history ; Humans ; Molecular Sequence Data ; Norway ; Nucleic Acid Amplification Techniques ; Sequence Alignment ; Sequence Analysis, DNA ; Tooth/chemistry ; }, abstract = {The medieval Norsemen or Vikings had an important biological and cultural impact on many parts of Europe through raids, colonization and trade, from about AD 793 to 1066. To help understand the genetic affinities of the ancient Norsemen, and their genetic contribution to the gene pool of other Europeans, we analysed DNA markers in Late Iron Age skeletal remains from Norway. DNA was extracted from 80 individuals, and mitochondrial DNA polymorphisms were detected by next-generation sequencing. The sequences of 45 ancient Norwegians were verified as genuine through the identification of damage patterns characteristic of ancient DNA. The ancient Norwegians were genetically similar to previously analysed ancient Icelanders, and to present-day Shetland and Orkney Islanders, Norwegians, Swedes, Scots, English, German and French. The Viking Age population had higher frequencies of K*, U*, V* and I* haplogroups than their modern counterparts, but a lower proportion of T* and H* haplogroups. Three individuals carried haplotypes that are rare in Norway today (U5b1b1, Hg A* and an uncommon variant of H*). Our combined analyses indicate that Norse women were important agents in the overseas expansion and settlement of the Vikings, and that women from the Orkneys and Western Isles contributed to the colonization of Iceland.}, }
@article {pmid25487333, year = {2015}, author = {Parducci, L and Väliranta, M and Salonen, JS and Ronkainen, T and Matetovici, I and Fontana, SL and Eskola, T and Sarala, P and Suyama, Y}, title = {Proxy comparison in ancient peat sediments: pollen, macrofossil and plant DNA.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {370}, number = {1660}, pages = {20130382}, pmid = {25487333}, issn = {1471-2970}, mesh = {Base Sequence ; DNA, Plant/classification/*genetics/history ; Finland ; *Fossils ; Geologic Sediments/*chemistry ; History, Ancient ; Molecular Sequence Data ; Multiplex Polymerase Chain Reaction ; Pollen/*genetics ; Russia ; Sequence Analysis, DNA/methods ; Soil/*chemistry ; }, abstract = {We compared DNA, pollen and macrofossil data obtained from Weichselian interstadial (age more than 40 kyr) and Holocene (maximum age 8400 cal yr BP) peat sediments from northern Europe and used them to reconstruct contemporary floristic compositions at two sites. The majority of the samples provided plant DNA sequences of good quality with success amplification rates depending on age. DNA and sequencing analysis provided five plant taxa from the older site and nine taxa from the younger site, corresponding to 7% and 15% of the total number of taxa identified by the three proxies together. At both sites, pollen analysis detected the largest (54) and DNA the lowest (10) number of taxa, but five of the DNA taxa were not detected by pollen and macrofossils. The finding of a larger overlap between DNA and pollen than between DNA and macrofossils proxies seems to go against our previous suggestion based on lacustrine sediments that DNA originates principally from plant tissues and less from pollen. At both sites, we also detected Quercus spp. DNA, but few pollen grains were found in the record, and these are normally interpreted as long-distance dispersal. We confirm that in palaeoecological investigations, sedimentary DNA analysis is less comprehensive than classical morphological analysis, but is a complementary and important tool to obtain a more complete picture of past flora.}, }
@article {pmid25487325, year = {2015}, author = {Malmström, H and Linderholm, A and Skoglund, P and Storå, J and Sjödin, P and Gilbert, MT and Holmlund, G and Willerslev, E and Jakobsson, M and Lidén, K and Götherström, A}, title = {Ancient mitochondrial DNA from the northern fringe of the Neolithic farming expansion in Europe sheds light on the dispersion process.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {370}, number = {1660}, pages = {20130373}, pmid = {25487325}, issn = {1471-2970}, mesh = {Agriculture/history ; Base Sequence ; Computational Biology ; DNA Primers/genetics ; DNA, Mitochondrial/*genetics/history ; Gene Flow ; *Genetic Variation ; Genetics, Population ; High-Throughput Nucleotide Sequencing ; History, Ancient ; Human Migration/*history ; Humans ; Models, Genetic ; Molecular Sequence Data ; Population Dynamics ; Real-Time Polymerase Chain Reaction ; Sweden ; }, abstract = {The European Neolithization process started around 12 000 years ago in the Near East. The introduction of agriculture spread north and west throughout Europe and a key question has been if this was brought about by migrating individuals, by an exchange of ideas or a by a mixture of these. The earliest farming evidence in Scandinavia is found within the Funnel Beaker Culture complex (Trichterbecherkultur, TRB) which represents the northernmost extension of Neolithic farmers in Europe. The TRB coexisted for almost a millennium with hunter-gatherers of the Pitted Ware Cultural complex (PWC). If migration was a substantial part of the Neolithization, even the northerly TRB community would display a closer genetic affinity to other farmer populations than to hunter-gatherer populations. We deep-sequenced the mitochondrial hypervariable region 1 from seven farmers (six TRB and one Battle Axe complex, BAC) and 13 hunter-gatherers (PWC) and authenticated the sequences using postmortem DNA damage patterns. A comparison with 124 previously published sequences from prehistoric Europe shows that the TRB individuals share a close affinity to Central European farmer populations, and that they are distinct from hunter-gatherer groups, including the geographically close and partially contemporary PWC that show a close affinity to the European Mesolithic hunter-gatherers.}, }
@article {pmid25455543, year = {2014}, author = {Levit, GS and Hossfeld, U and Olsson, L}, title = {The Darwinian revolution in Germany: from evolutionary morphology to the modern synthesis.}, journal = {Endeavour}, volume = {38}, number = {3-4}, pages = {268-279}, doi = {10.1016/j.endeavour.2014.10.010}, pmid = {25455543}, issn = {1873-1929}, mesh = {Animals ; *Biological Evolution ; Biological Science Disciplines/*history ; Germany ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Natural Science Disciplines/*history ; *Selection, Genetic ; }, abstract = {The Darwinian revolution in the German speaking lands was the result of a variety of influences and disciplinary convergences. One of the paths led from pre-Darwinian comparative morphology via Darwinian and Lamarckian evolutionary morphology to the Modern Synthesis. Our research demonstrates that there was no immediate replacement of one paradigm by another as described in the classical work of Thomas Kuhn. Rather, the development of novel conceptual structures looked like a Russian ‘matryoshka doll’ consisting of an over-arching ‘meta-paradigm’ embracing conceptual structures of ever smaller scale. Such a meta-paradigm for German life sciences was initially established by Johann Wolfgang von Goethe, which determined the specificity of German evolutionism throughout the 2nd half of the 19th and well into the 20th century.}, }
@article {pmid25428932, year = {2015}, author = {Lang, R and Gundlach, AL and Holmes, FE and Hobson, SA and Wynick, D and Hökfelt, T and Kofler, B}, title = {Physiology, signaling, and pharmacology of galanin peptides and receptors: three decades of emerging diversity.}, journal = {Pharmacological reviews}, volume = {67}, number = {1}, pages = {118-175}, doi = {10.1124/pr.112.006536}, pmid = {25428932}, issn = {1521-0081}, support = {12/0004538/DUK_/Diabetes UK/United Kingdom ; G0300028/MRC_/Medical Research Council/United Kingdom ; G1000863/MRC_/Medical Research Council/United Kingdom ; //Wellcome Trust/United Kingdom ; }, mesh = {Amino Acid Sequence ; Animals ; Drug Design ; Galanin/genetics/history/*metabolism ; History, 20th Century ; Humans ; Mice, Transgenic ; Molecular Sequence Data ; Molecular Targeted Therapy ; Neurons/*drug effects/metabolism ; Receptors, Galanin/*drug effects/genetics/history/metabolism ; Signal Transduction/*drug effects ; }, abstract = {Galanin was first identified 30 years ago as a "classic neuropeptide," with actions primarily as a modulator of neurotransmission in the brain and peripheral nervous system. Other structurally-related peptides-galanin-like peptide and alarin-with diverse biologic actions in brain and other tissues have since been identified, although, unlike galanin, their cognate receptors are currently unknown. Over the last two decades, in addition to many neuronal actions, a number of nonneuronal actions of galanin and other galanin family peptides have been described. These include actions associated with neural stem cells, nonneuronal cells in the brain such as glia, endocrine functions, effects on metabolism, energy homeostasis, and paracrine effects in bone. Substantial new data also indicate an emerging role for galanin in innate immunity, inflammation, and cancer. Galanin has been shown to regulate its numerous physiologic and pathophysiological processes through interactions with three G protein-coupled receptors, GAL1, GAL2, and GAL3, and signaling via multiple transduction pathways, including inhibition of cAMP/PKA (GAL1, GAL3) and stimulation of phospholipase C (GAL2). In this review, we emphasize the importance of novel galanin receptor-specific agonists and antagonists. Also, other approaches, including new transgenic mouse lines (such as a recently characterized GAL3 knockout mouse) represent, in combination with viral-based techniques, critical tools required to better evaluate galanin system physiology. These in turn will help identify potential targets of the galanin/galanin-receptor systems in a diverse range of human diseases, including pain, mood disorders, epilepsy, neurodegenerative conditions, diabetes, and cancer.}, }
@article {pmid25392358, year = {2015}, author = {Hendriksen, RS and Leekitcharoenphon, P and Lukjancenko, O and Lukwesa-Musyani, C and Tambatamba, B and Mwaba, J and Kalonda, A and Nakazwe, R and Kwenda, G and Jensen, JD and Svendsen, CA and Dittmann, KK and Kaas, RS and Cavaco, LM and Aarestrup, FM and Hasman, H and Mwansa, JC}, title = {Genomic signature of multidrug-resistant Salmonella enterica serovar typhi isolates related to a massive outbreak in Zambia between 2010 and 2012.}, journal = {Journal of clinical microbiology}, volume = {53}, number = {1}, pages = {262-272}, pmid = {25392358}, issn = {1098-660X}, mesh = {Anti-Bacterial Agents/pharmacology ; Child ; Child, Preschool ; Chromosomes, Bacterial ; Conjugation, Genetic ; *Disease Outbreaks ; *Drug Resistance, Multiple, Bacterial ; Evolution, Molecular ; Female ; Gene Order ; Genes, Bacterial ; *Genome, Bacterial ; *Genomics ; Haplotypes ; History, 21st Century ; Humans ; Male ; Microbial Sensitivity Tests ; Molecular Sequence Data ; Multilocus Sequence Typing ; Mutation ; Phylogeny ; Plasmids ; Polymorphism, Single Nucleotide ; Salmonella typhi/classification/*drug effects/*genetics ; Sequence Deletion ; Translocation, Genetic ; Typhoid Fever/*epidemiology/history/*microbiology ; Zambia/epidemiology ; }, abstract = {Retrospectively, we investigated the epidemiology of a massive Salmonella enterica serovar Typhi outbreak in Zambia during 2010 to 2012. Ninety-four isolates were susceptibility tested by MIC determinations. Whole-genome sequence typing (WGST) of 33 isolates and bioinformatic analysis identified the multilocus sequence type (MLST), haplotype, plasmid replicon, antimicrobial resistance genes, and genetic relatedness by single nucleotide polymorphism (SNP) analysis and genomic deletions. The outbreak affected 2,040 patients, with a fatality rate of 0.5%. Most (83.0%) isolates were multidrug resistant (MDR). The isolates belonged to MLST ST1 and a new variant of the haplotype, H58B. Most isolates contained a chromosomally translocated region containing seven antimicrobial resistance genes, catA1, blaTEM-1, dfrA7, sul1, sul2, strA, and strB, and fragments of the incompatibility group Q1 (IncQ1) plasmid replicon, the class 1 integron, and the mer operon. The genomic analysis revealed 415 SNP differences overall and 35 deletions among 33 of the isolates subjected to whole-genome sequencing. In comparison with other genomes of H58, the Zambian isolates separated from genomes from Central Africa and India by 34 and 52 SNPs, respectively. The phylogenetic analysis indicates that 32 of the 33 isolates sequenced belonged to a tight clonal group distinct from other H58 genomes included in the study. The small numbers of SNPs identified within this group are consistent with the short-term transmission that can be expected over a period of 2 years. The phylogenetic analysis and deletions suggest that a single MDR clone was responsible for the outbreak, during which occasional other S. Typhi lineages, including sensitive ones, continued to cocirculate. The common view is that the emerging global S. Typhi haplotype, H58B, containing the MDR IncHI1 plasmid is responsible for the majority of typhoid infections in Asia and sub-Saharan Africa; we found that a new variant of the haplotype harboring a chromosomally translocated region containing the MDR islands of IncHI1 plasmid has emerged in Zambia. This could change the perception of the term "classical MDR typhoid" currently being solely associated with the IncHI1 plasmid. It might be more common than presently thought that S. Typhi haplotype H58B harbors the IncHI1 plasmid or a chromosomally translocated MDR region or both.}, }
@article {pmid25345702, year = {2014}, author = {Deichmann, U}, title = {The concept of the causal role of chromosomes and genes in heredity and development: opponents from Darwin to Lysenko.}, journal = {Perspectives in biology and medicine}, volume = {57}, number = {1}, pages = {57-77}, doi = {10.1353/pbm.2014.0007}, pmid = {25345702}, issn = {1529-8795}, mesh = {*Biological Evolution ; *Causality ; *Chromosomes ; *Heredity ; History, 19th Century ; History, 20th Century ; *Models, Theoretical ; }, abstract = {The idea of chromosomes and genes as causal agents in development and heredity originated in late 19th-century cytology, and it was most strongly supported by Theodor Boveri and Edmund B. Wilson. The concept of genes, which was central and most fruitful in classical genetics, appeared, however, unappealing and insufficient to many for explaining complex biological phenomena such as development.Philosophical outlooks, among them "Lamarckian" and holistic predilections, played a significant role in scientists' objection to genes as causal factors. A wide conceptual gap between genetics and developmental biology ensued. The strongest attack on the concept of genes was launched by agronomist and politician Trofim Lysenko in the Soviet Union under Stalin. Brushing aside the "Mendelist-Morganist" methods of classical genetics, Lysenko put forward a holistic concept of heredity that incorporated development and heritable responses to environmental conditions, similar to Darwin's Pangenesis theory, though of course some 60 years later. Recent developments include the role of genes in research on epigenetic marks and in systems approaches based on embryological gene regulatory networks.}, }
@article {pmid25345701, year = {2014}, author = {Roll-Hansen, N}, title = {Johannsen's criticism of the chromosome theory.}, journal = {Perspectives in biology and medicine}, volume = {57}, number = {1}, pages = {40-56}, doi = {10.1353/pbm.2014.0005}, pmid = {25345701}, issn = {1529-8795}, mesh = {*Chromosomes ; Evolution, Molecular ; Genotype ; History, 20th Century ; *Models, Genetic ; }, abstract = {The genotype theory of Wilhelm Johannsen (1857-1927) was an important contribution to the founding of classical genetics. This theory built on Johannsen's experimental demonstration that hereditary change is discontinuous, not continuous as had been widely assumed. Johannsen is also known for his criticism of traditional Darwinian evolution by natural selection, as well as his criticism of the classical Mendelian chromosome theory of heredity. He has often been seen as one of the anti-Darwinians that caused the "eclipse of Darwinism" in the early 20th century, before it was saved by the Modern Synthesis. This article focuses on Johannsen's criticism of the chromosome theory. He was indeed skeptical of the notion of the chromosomes as the sole carriers of heredity, but he praised the mapping of Mendelian genes on the chromosomes as a major step forward. Johannsen objected that these genes could not account for the whole of heredity, and that the stability of the genotype depended on much more than the stability of Mendelian genes. For Johannsen, the genotype, as a property of the whole organism, was the fundamental and empirically well-established entity.}, }
@article {pmid25345700, year = {2014}, author = {Allen, GE}, title = {Origins of the classical gene concept, 1900-1950: genetics, mechanistic, philosophy, and the capitalization of agriculture.}, journal = {Perspectives in biology and medicine}, volume = {57}, number = {1}, pages = {8-39}, doi = {10.1353/pbm.2014.0003}, pmid = {25345700}, issn = {1529-8795}, mesh = {*Agriculture ; *Genetics ; *Heredity ; History, 19th Century ; History, 20th Century ; Models, Theoretical ; }, abstract = {In the period of "classical genetics" (roughly 1915-950), the common view of the gene was mechanistic--hat is, genes were seen as individual, atomistic units, as material components of the chromosomes. Although it was recognized early on that genes could interact and influence each other's expression, they were still regarded as individually functioning units, much like the chemists' atoms or molecules. Although geneticists in particular knew the story was more complex, the atomistic gene remained the central view for a variety of reasons. It fit the growing philosophy of mechanistic materialism in the life sciences, as biologists tried to make their field more quantitative,rigorous, and predictive, like physics and chemistry. Conceptually and pedagogically, it provided a simple way to depict genes (as beads on a string) that fit with the exciting new work on chromosomal mapping. The atomistic gene also fit well with the increasing drive to move capital into agriculture, both for potential patenting purposes and for ease of experimental manipulation and prediction. It is the latter point that the present essay explores most thoroughly. The rise of agriculture as an industrialized process provided a context and material support that fueled much of the rapid growth of genetics in the first half of the 20th century.}, }
@article {pmid25315220, year = {2014}, author = {Goghari, VM and Billiet, T and Sunaert, S and Emsell, L}, title = {A diffusion tensor imaging family study of the fornix in schizophrenia.}, journal = {Schizophrenia research}, volume = {159}, number = {2-3}, pages = {435-440}, doi = {10.1016/j.schres.2014.09.037}, pmid = {25315220}, issn = {1573-2509}, support = {//Canadian Institutes of Health Research/Canada ; }, mesh = {Adult ; Anisotropy ; Diffusion Tensor Imaging/*methods ; Family ; Female ; Fornix, Brain/*pathology ; *Genetic Predisposition to Disease ; History, Ancient ; Humans ; Male ; Middle Aged ; Schizophrenia/genetics/*pathology/physiopathology ; }, abstract = {Diffusion tensor imaging (DTI) studies suggest abnormalities in the white matter microstructure of the fornix in schizophrenia patients. Research evaluating schizophrenia patient and relatives also suggests that the white matter microstructure of the fornix is heritable. However, previous studies have been hindered by limited DTI methodology. Therefore, the goal of this study was to assess whether fornix abnormalities were related to the genetic liability for schizophrenia using the novel methodological approach of assessing multiple metrics of along-tract measurements, in addition to whole-tract means. Twenty-five schizophrenia patients, 24 adult non-psychotic first-degree biological relatives, and 27 community controls underwent neuroimaging. No group differences were found for any of the DTI metrics using the classical whole-tract measures of the fornix. Along-tract analysis detected local increases in fractional anisotropy (FA) in the right fimbria of the fornix for relatives compared to patients and controls corrected for false discovery rate. No significant associations were found between symptoms, global functioning, or IQ and whole-tract FA means in schizophrenia patients or relatives. Increased FA in non-psychotic relatives could represent a compensatory mechanism to guard against psychosis or an abnormality associated with the genetic liability for the disorder. These findings underscore the importance of obtaining along-tract measurements, in addition to whole-tract measurements to fully understand white matter abnormalities in schizophrenia.}, }
@article {pmid25303793, year = {2014}, author = {Berry, D}, title = {Bruno to Brünn; or the Pasteurization of Mendelian genetics.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {48 Pt B}, number = {}, pages = {280-286}, doi = {10.1016/j.shpsc.2014.09.002}, pmid = {25303793}, issn = {1879-2499}, mesh = {*Agriculture/history ; France ; *Genetics/history ; *Historiography ; History, 19th Century ; History, 20th Century ; Humans ; *Literature, Modern/history ; *Pasteurization/history ; *Philosophy/history ; *Sociology/history ; }, }
@article {pmid25275857, year = {2015}, author = {Coutinho, MF and Matos, L and Alves, S}, title = {From bedside to cell biology: a century of history on lysosomal dysfunction.}, journal = {Gene}, volume = {555}, number = {1}, pages = {50-58}, doi = {10.1016/j.gene.2014.09.054}, pmid = {25275857}, issn = {1879-0038}, mesh = {Animals ; History, 19th Century ; History, 20th Century ; Humans ; Lysosomal Storage Diseases/*genetics/*history/pathology ; Lysosomes/enzymology ; Mucopolysaccharidoses/genetics/history/pathology ; }, abstract = {Lysosomal storage disorders (LSDs) are a group of rare genetic diseases, generally caused by a deficiency of specific lysosomal enzymes, which results in abnormal accumulation of undegraded substrates. The first clinical reports describing what were later shown to be LSDs were published more than a hundred years ago. In general, the history and pathophysiology of LSDs has impacted on our current knowledge of lysosomal biology. Classically, depending on the nature of the substrates, LSDs can be divided into different subgroups. The mucopolysaccharidoses (MPSs) are those caused by impaired degradation of glycosaminoglycans (GAGs). Amongst LSDs, the MPSs are a major group of pathologies with crucial historical relevance, since their study has revealed important biological pathways and highlighted interconnecting pathological cascades which are still being unveiled nowadays. Here we review the major historical discoveries in the field of LSDs and their impact on basic cellular knowledge and practical applications. Attention will be focused on the MPSs, with occasional references to other LSDs. We will show as studies on the metabolic basis of this group of diseases have increased our knowledge of the complex degradative pathways associated with the lysosome and established the basis to the development of specific therapeutic approaches aiming at correcting or, at least ameliorating their associated phenotypes.}, }
@article {pmid25260228, year = {2015}, author = {Graziano, AC and Cardile, V}, title = {History, genetic, and recent advances on Krabbe disease.}, journal = {Gene}, volume = {555}, number = {1}, pages = {2-13}, doi = {10.1016/j.gene.2014.09.046}, pmid = {25260228}, issn = {1879-0038}, mesh = {Animals ; History, 19th Century ; History, 20th Century ; Humans ; Leukodystrophy, Globoid Cell/*genetics/*history/physiopathology/therapy ; }, abstract = {Krabbe disease or globoid cell leukodystrophy is one of the classic genetic lysosomal storage diseases with autosomal recessive inheritance that affects both central and peripheral nervous systems in several species including humans, rhesus macaques, dogs, mice, and sheep. Since its identification in 1916, lots of scientific investigations were made to define the cause, to evaluate the molecular mechanisms of the damage and to develop more efficient therapies inducing clinical benefit and ameliorating the patients' quality of life. This manuscript gives a historical overview and summarizes the new recent findings about Krabbe disease. Human symptoms and phenotypes, gene encoding for β-galactocerebrosidase and encoded protein were described. Indications about the classical mutations were reported and some specific mutations in restricted geographical area, like the north of Catania City (Italy), were added. Briefly, here we present a mix of past and present investigations on Krabbe disease in order to update the knowledge on its genetic history and molecular mechanisms and to move new scientific investigations.}, }
@article {pmid25242260, year = {2014}, author = {Ito, M and Bogdanova, T and Zurnadzhy, L and Saenko, V and Rogounovitch, T and Mitsutake, N and Kondo, H and Maeda, S and Nakashima, M and Tronko, M and Yamashita, S}, title = {Morphological difference in adult thyroid papillary carcinoma between Japan and Ukraine.}, journal = {Endocrine journal}, volume = {61}, number = {12}, pages = {1221-1228}, doi = {10.1507/endocrj.EJ14-0239}, pmid = {25242260}, issn = {1348-4540}, mesh = {Adult ; Carcinoma/complications/epidemiology/immunology/*pathology ; Carcinoma, Papillary/complications/epidemiology/immunology/*pathology ; Carcinoma, Papillary, Follicular/complications/epidemiology/immunology/pathology ; Cell Proliferation ; Chernobyl Nuclear Accident ; Deficiency Diseases/complications ; Female ; Humans ; Incidence ; Iodine/deficiency ; Japan/epidemiology ; Lymphatic Metastasis ; Lymphocytes/immunology/pathology ; Male ; Metaplasia/immunology/pathology ; Middle Aged ; Neoplasm Invasiveness/immunology/pathology ; Neoplasm Staging ; Prevalence ; Thyroid Cancer, Papillary ; Thyroid Gland/immunology/*pathology ; Thyroid Neoplasms/complications/epidemiology/immunology/*pathology ; Tumor Burden ; Ukraine/epidemiology ; }, abstract = {Geographic differences have been reported to affect the morphological and molecular features of papillary thyroid carcinomas (PTCs). The area around Chernobyl is well-known to be iodine-deficient in contrast to Japan, an iodine-rich country. We reviewed histological differences in adult PTC between Ukraine and Japan. In total, 112 PTCs from age- and sex-matched adults (Ukraine 56, Japan 56) were evaluated histologically for several factors including tumor size, capsulation, tumor components (papillary, follicular, solid, trabecular), lymph node metastasis, extrathyroid invasion, lymphocytic infiltration, oxyphilic metaplasia, and MIB-1 index. We demonstrated that tumors were smaller (1.56 vs. 2.13 cm, p<0.05) and more solid and that lymph node metastasis was less frequent (14.3% vs. 48.2%, p<0.001) in Ukrainian cases. PTC subtype distribution was significantly different between the two groups. Solid variant (8.9% vs. 1.8%) and mixed subtypes with solid components were more frequent in Ukrainian patients. In contrast, classical papillary carcinomas were more frequent in Japanese cases (10.7% vs. 50.0%, p<0.001). Marked oxyphilic metaplasia was more common in Ukrainian cases (33.9 % vs. 8.9 %, p<0.001). MIB-1 index was significantly higher in Ukrainian cases (2.9% vs. 1.8%, p<0.001). However, the frequencies of tumor capsule formation and background lymphoid follicle formation around the tumor were similar between groups. Morphological differences in adult PTCs were similar to those in pediatric PTCs as reported previously, suggesting that morphogenesis of PTC is influenced by environmental factors, especially dietary iodine, as well as genetic factors.}, }
@article {pmid25172476, year = {2014}, author = {Pandey, AK and Williams, RW}, title = {Genetics of gene expression in CNS.}, journal = {International review of neurobiology}, volume = {116}, number = {}, pages = {195-231}, pmid = {25172476}, issn = {2162-5514}, support = {U24 AA013513/AA/NIAAA NIH HHS/United States ; U01 AA013513/AA/NIAAA NIH HHS/United States ; U01 AA016662/AA/NIAAA NIH HHS/United States ; U01 AA013499/AA/NIAAA NIH HHS/United States ; U01 AA014425/AA/NIAAA NIH HHS/United States ; }, mesh = {Animals ; Central Nervous System/*metabolism ; *Chromosome Mapping ; Gene Expression/*genetics ; History, 20th Century ; Humans ; Microarray Analysis/history/methods ; Quantitative Trait Loci ; Transcriptome ; }, abstract = {Transcriptome studies have revealed a surprisingly high level of variation among individuals in expression of key genes in the CNS under both normal and experimental conditions. Ten-fold variation is common, yet the specific causes and consequences of this variation are largely unknown. By combining classic gene mapping methods-family linkage studies and genomewide association-with high-throughput genomics, it is now possible to define quantitative trait loci (QTLs), single-gene variants, and even single SNPs and indels that control gene expression in different brain regions and cells. This review considers some of the major technical and conceptual challenges in analyzing variation in expression in the CNS with a focus on mRNAs, rather than noncoding RNAs or proteins. At one level of analysis, this work has been highly successful, and we finally have techniques that can be used to track down small numbers of loci that control expression in the CNS. But at a higher level of analysis, we still do not understand the genetic architecture of gene expression in brain, the consequences of expression QTLs on protein levels or on cell function, or the combined impact of expression differences on behavior and disease risk. These important gaps are likely to be bridged over the next several decades using (1) much larger sample sizes, (2) more powerful RNA sequencing and proteomic methods, and (3) novel statistical and computational models to predict genome-to-phenome relations.}, }
@article {pmid25170159, year = {2014}, author = {Raghavan, M and DeGiorgio, M and Albrechtsen, A and Moltke, I and Skoglund, P and Korneliussen, TS and Grønnow, B and Appelt, M and Gulløv, HC and Friesen, TM and Fitzhugh, W and Malmström, H and Rasmussen, S and Olsen, J and Melchior, L and Fuller, BT and Fahrni, SM and Stafford, T and Grimes, V and Renouf, MA and Cybulski, J and Lynnerup, N and Lahr, MM and Britton, K and Knecht, R and Arneborg, J and Metspalu, M and Cornejo, OE and Malaspinas, AS and Wang, Y and Rasmussen, M and Raghavan, V and Hansen, TV and Khusnutdinova, E and Pierre, T and Dneprovsky, K and Andreasen, C and Lange, H and Hayes, MG and Coltrain, J and Spitsyn, VA and Götherström, A and Orlando, L and Kivisild, T and Villems, R and Crawford, MH and Nielsen, FC and Dissing, J and Heinemeier, J and Meldgaard, M and Bustamante, C and O'Rourke, DH and Jakobsson, M and Gilbert, MT and Nielsen, R and Willerslev, E}, title = {The genetic prehistory of the New World Arctic.}, journal = {Science (New York, N.Y.)}, volume = {345}, number = {6200}, pages = {1255832}, doi = {10.1126/science.1255832}, pmid = {25170159}, issn = {1095-9203}, mesh = {Alaska/ethnology ; Arctic Regions/ethnology ; Base Sequence ; Bone and Bones ; Canada/ethnology ; DNA, Mitochondrial/genetics ; Genome, Human/*genetics ; Greenland/ethnology ; Hair ; History, Ancient ; *Human Migration ; Humans ; Inuit/ethnology/*genetics/history ; Molecular Sequence Data ; Siberia/ethnology ; Survivors/history ; Tooth ; }, abstract = {The New World Arctic, the last region of the Americas to be populated by humans, has a relatively well-researched archaeology, but an understanding of its genetic history is lacking. We present genome-wide sequence data from ancient and present-day humans from Greenland, Arctic Canada, Alaska, Aleutian Islands, and Siberia. We show that Paleo-Eskimos (~3000 BCE to 1300 CE) represent a migration pulse into the Americas independent of both Native American and Inuit expansions. Furthermore, the genetic continuity characterizing the Paleo-Eskimo period was interrupted by the arrival of a new population, representing the ancestors of present-day Inuit, with evidence of past gene flow between these lineages. Despite periodic abandonment of major Arctic regions, a single Paleo-Eskimo metapopulation likely survived in near-isolation for more than 4000 years, only to vanish around 700 years ago.}, }
@article {pmid25093864, year = {2014}, author = {Hershkovitz, I and Spigelman, M and Sarig, R and Lim, DS and Lee, IS and Oh, CS and May, H and Boaretto, E and Kim, YS and Lee, SD and Peled, N and Kim, MJ and Toledano, T and Bar-Gal, GK and Shin, DH}, title = {A possible case of cherubism in a 17th-century Korean mummy.}, journal = {PloS one}, volume = {9}, number = {8}, pages = {e102441}, pmid = {25093864}, issn = {1932-6203}, mesh = {Adolescent ; Adult ; Archaeology ; Cherubism/*diagnosis/history ; Female ; History, 17th Century ; Humans ; *Mummies/history ; Republic of Korea ; Young Adult ; }, abstract = {Cherubism is a benign fibro-osseous disease of childhood limited specifically to the maxilla and mandible. The progressive replacement of the jaw bones with expansile multilocular cystic lesions causes eventual prominence of the lower face, and hence the classic "cherubic" phenotype reflecting variable extents of jaw hypertrophy. Histologically, this condition has been characterized as replacement of the normal bone matrix with multicystic pockets of fibrous stroma and osteoclastic giant cells. Because of radiographic features common to both, primarily the presence of multiloculated lucencies with heterogeneous "ground-glass" sclerosis on CT imaging, cherubism was long mistaken for a craniofacial subtype of fibrous dysplasia. In 1999, however, the distinct genetic basis for cherubism was mapped to chromosome 4p16.3 and the SH-3 binding protein SH3BP2. But while there are already three suspected cases of fibrous dysplasia amongst archaeological populations, no definitive cases of cherubism have yet been reported in historical populations. In the current study we describe micro- and macro-structural changes in the face of a 17th century Joseon Dynasty Korean mummy which may coincide with the clinic-pathologic and radiologic features of cherubism.}, }
@article {pmid25017492, year = {2014}, author = {López-Ibor, JJ and López-Ibor, MI}, title = {Romanticism and schizophrenia. First part: The recency hypothesis and the core Gestalt of the disease.}, journal = {Actas espanolas de psiquiatria}, volume = {42}, number = {4}, pages = {133-158}, pmid = {25017492}, issn = {1578-2735}, mesh = {Gestalt Theory ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, Ancient ; Humans ; Medicine in Literature ; Romanticism ; Schizophrenia/diagnosis/history ; *Schizophrenic Psychology ; }, abstract = {Descriptions of irrational, incomprehensible, or unconstrained behavior such as is common nowadays in patients suffering from severe mental disorders can be found in the Bible, in Mesopotamian scripts, in classical Greek and Roman literature, and in the writings of many non-Western cultures. However, the presence of full-blown features of schizophrenia as seen today in psychiatric settings is controversial. Typical symptoms, the expected onset, duration and outcome, the impact of the disease on psychic functioning and the associated disability of the disease are mostly absent in those texts. Torrey (1980) and Hare (1988) have claimed that the disease did not exist before the year 1800 (this is known as the recency hypothesis). This would be the consequence of biological factors such as viruses, genetic or dietary factors or environmental contaminants associated to civilization. Others have put the emphasis on industrialization and its repercussions on social conditions such as family structure and migration. After analyzing the many manifestations of insanity in literary characters, in medical texts and in key historical figures, the arguments presented in this paper tend to support the recency hypothesis. A review of the core characteristics of schizophrenia and its impact on selfhood, intersubjetivity and ipseity, topics relatively neglected in recent psychiatric literature, opens the doors to consider in a second part the relationship between the features of Romanticism, starting by the “discovery of intimacy”, and its articulation with the disturbance of ipseity and selfhood characteristic of the disease.}, }
@article {pmid25004548, year = {2014}, author = {}, title = {Heredity in hypertension. 1934.}, journal = {The Medical journal of Australia}, volume = {200}, number = {10}, pages = {605}, doi = {10.5694/j.1326-5377.1934.tb91236.x}, pmid = {25004548}, issn = {1326-5377}, mesh = {Australia ; Genetic Predisposition to Disease/genetics ; History, 20th Century ; Humans ; Hypertension/genetics/*history ; }, }
@article {pmid24962561, year = {2014}, author = {Ziegler, A and König, IR}, title = {Celebrating the 30th anniversary of genetic epidemiology: how to define our scope?.}, journal = {Genetic epidemiology}, volume = {38}, number = {5}, pages = {379-380}, doi = {10.1002/gepi.21816}, pmid = {24962561}, issn = {1098-2272}, mesh = {Anniversaries and Special Events ; *Epidemiologic Studies ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/history/*trends ; Periodicals as Topic/history/*trends ; Phenotype ; Precision Medicine ; *Terminology as Topic ; }, abstract = {We review the scope of the scientific discipline genetic epidemiology by considering the steps of genetic epidemiologic research. Starting from the classical definition of genetic epidemiology as provided by Morton and Chung [1978, ISBN-13: 9780125080507], we propose a slightly modernized definition of the term genetic epidemiology.}, }
@article {pmid24958925, year = {2014}, author = {Ramsey, J and Ramsey, TS}, title = {Ecological studies of polyploidy in the 100 years following its discovery.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {369}, number = {1648}, pages = {}, pmid = {24958925}, issn = {1471-2970}, mesh = {*Ecosystem ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Plant Dispersal/*genetics ; Plants/*genetics ; *Polyploidy ; }, abstract = {Polyploidy is a mutation with profound phenotypic consequences and thus hypothesized to have transformative effects in plant ecology. This is most often considered in the context of geographical and environmental distributions-as achieved from divergence of physiological and life-history traits-but may also include species interactions and biological invasion. This paper presents a historical overview of hypotheses and empirical data regarding the ecology of polyploids. Early researchers of polyploidy (1910 s-1930 s) were geneticists by training but nonetheless savvy to its phenotypic effects, and speculated on the importance of genome duplication to adaptation and crop improvement. Cytogenetic studies in the 1930 s-1950 s indicated that polyploids are larger (sturdier foliage, thicker stems and taller stature) than diploids while cytogeographic surveys suggested that polyploids and diploids have allopatric or parapatric distributions. Although autopolyploidy was initially regarded as common, influential writings by North American botanists in the 1940 s and 1950 s argued for the principle role of allopolyploidy; according to this view, genome duplication was significant for providing a broader canvas for hybridization rather than for its phenotypic effects per se. The emphasis on allopolyploidy had a chilling effect on nascent ecological work, in part due to taxonomic challenges posed by interspecific hybridization. Nonetheless, biosystematic efforts over the next few decades (1950s-1970s) laid the foundation for ecological research by documenting cytotype distributions and identifying phenotypic correlates of polyploidy. Rigorous investigation of polyploid ecology was achieved in the 1980s and 1990 s by population biologists who leveraged flow cytometry for comparative work in autopolyploid complexes. These efforts revealed multi-faceted ecological and phenotypic differences, some of which may be direct consequences of genome duplication. Several classical hypotheses about the ecology of polyploids remain untested, however, and allopolyploidy--regarded by most botanists as the primary mode of genome duplication--is largely unstudied in an ecological context.}, }
@article {pmid24951822, year = {2014}, author = {Todd, JA and Aitman, TJ and Cornall, RJ and Ghosh, S and Hall, JR and Hearne, CM and Knight, AM and Love, JM and McAleer, MA and Prins, JB and Rodrigues, N and Lathrop, M and Pressey, A and DeLarato, NH and Peterson, LB and Wicker, LS}, title = {Genetic analysis of autoimmune type 1 diabetes mellitus in mice. 1991.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {193}, number = {1}, pages = {7-12}, pmid = {24951822}, issn = {1550-6606}, mesh = {Animals ; Chromosomes, Mammalian/*genetics ; Diabetes Mellitus, Type 1/*genetics/history ; *Genome ; History, 20th Century ; Mice ; }, }
@article {pmid24870391, year = {2014}, author = {Fellous, M}, title = {Boy or girl's mendelian genetics with "precious" families.}, journal = {Journal of molecular neuroscience : MN}, volume = {54}, number = {3}, pages = {586-589}, pmid = {24870391}, issn = {1559-1166}, mesh = {Adult ; Child ; Female ; *Genes, sry ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Male ; Ovotesticular Disorders of Sex Development/diagnosis/*genetics ; *Pedigree ; }, }
@article {pmid24825774, year = {2014}, author = {Mignot, EJ}, title = {History of narcolepsy at Stanford University.}, journal = {Immunologic research}, volume = {58}, number = {2-3}, pages = {315-339}, pmid = {24825774}, issn = {1559-0755}, support = {P50 NS023724/NS/NINDS NIH HHS/United States ; NS-23724/NS/NINDS NIH HHS/United States ; }, mesh = {Alleles ; Animals ; California ; Disease Models, Animal ; Dogs ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Histocompatibility Antigens/genetics/immunology ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Immune Tolerance ; Intracellular Signaling Peptides and Proteins/immunology ; Molecular Mimicry ; *Narcolepsy/epidemiology/etiology/physiopathology ; Neuropeptides/immunology ; Orexins ; Prevalence ; Receptors, Antigen, T-Cell/metabolism ; *Research/history/trends ; Respiratory Tract Infections/complications/microbiology/virology ; *Schools, Medical ; Sleep, REM ; *Universities ; }, abstract = {Although narcolepsy was first described in the late nineteenth century in Germany and France, much of the research on this disorder has been conducted at Stanford University, starting with Drs. William C. Dement and Christian Guilleminault in the 1970s. The prevalence of narcolepsy was established, and a canine model discovered. Following the finding in Japan that almost all patients with narcolepsy carry a specific HLA subtype, HLA-DR2, Hugh Mac Devitt, F. Carl Grumet, and Larry Steinman initiated immunological studies, but results were generally negative. Using the narcoleptic canines, Dr. Nishino and I established that stimulants increased wakefulness by stimulating dopaminergic transmission while antidepressants suppress cataplexy via adrenergic reuptake inhibition. A linkage study was initiated with Dr. Grumet in 1988, and after 10 years of work, the canine narcolepsy gene was cloned by in 1999 and identified as the hypocretin (orexin) receptor 2. In 1992, studying African Americans, we also found that DQ0602 rather than DR2 was a better marker for narcolepsy across all ethnic groups. In 2000, Dr. Nishino and I, in collaboration with Dr. Lammers in the Netherlands, found that hypocretin 1 levels in the cerebrospinal fluid (CSF) were undetectable in most cases, establishing hypocretin deficiency as the cause of narcolepsy. Pursuing this research, our and Dr. Siegel's group, examining postmortem brains, found that the decreased CSF hypocretin 1 was secondary to the loss the 70,000 neurons producing hypocretin in the hypothalamus. This finding revived the autoimmune hypothesis but attempts at demonstrating immune targeting of hypocretin cells failed until 2013. At this date, Dr. Elisabeth Mellins and I discovered that narcolepsy is characterized by the presence of autoreactive CD4(+) T cells to hypocretin fragments when presented by DQ0602. Following reports that narcolepsy cases were triggered by vaccinations and infections against influenza A 2009 pH1N1, a new pandemic strain that erupted in 2009, our groups also established that a small epitope of pH1N1 resembles hypocretin and is likely involved in molecular mimicry. Although much remains to be done, these achievements, establishing hypocretin deficiency as the cause of narcolepsy, demonstrating its autoimmune basis, and showing molecular mimicry between hypocretin and sequences derived from a pandemic strain of influenza, are likely to remain classics in human immunology.}, }
@article {pmid24811736, year = {2014}, author = {Stoltzfus, A and Cable, K}, title = {Mendelian-mutationism: the forgotten evolutionary synthesis.}, journal = {Journal of the history of biology}, volume = {47}, number = {4}, pages = {501-546}, pmid = {24811736}, issn = {0022-5010}, mesh = {*Biological Evolution ; Genetics/*history ; History, 19th Century ; History, 20th Century ; *Mutation ; *Selection, Genetic ; }, abstract = {According to a classical narrative, early geneticists, failing to see how Mendelism provides the missing pieces of Darwin's theory, rejected gradual changes and advocated an implausible yet briefly popular view of evolution-by-mutation; after decades of delay (in which synthesis was prevented by personal conflicts, disciplinary rivalries, and anti-Darwinian animus), Darwinism emerged on a new Mendelian basis. Based on the works of four influential early geneticists - Bateson, de Vries, Morgan and Punnett -, and drawing on recent scholarship, we offer an alternative that turns the classical view on its head. For early geneticists, embracing discrete inheritance and the mutation theory (for the origin of hereditary variation) did not entail rejection of selection, but rejection of Darwin's non-Mendelian views of heredity and variation, his doctrine of naturanon facitsaltum, and his conception of "natural selection" as a creative force that shapes features out of masses of infinitesimal differences. We find no evidence of a delay in synthesizing mutation, rules of discrete inheritance, and selection in a Mendelian-Mutationist Synthesis. Instead, before 1918, early geneticists had conceptualized allelic selection, the Hardy-Weinberg equilibrium, the evolution of a quantitative trait under selection, the probability of fixation of a new mutation, and other key innovations. Contemporary evolutionary thinking seems closer to their more ecumenical view than to the restrictive mid-twentieth-century consensus known as the Modern Synthesis.}, }
@article {pmid24803228, year = {2014}, author = {Porter, TM}, title = {The curious case of blending inheritance.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {46}, number = {}, pages = {125-132}, doi = {10.1016/j.shpsc.2014.02.003}, pmid = {24803228}, issn = {1879-2499}, mesh = {Biometry/*history ; Genetics/*history ; *Heredity ; History, 19th Century ; History, 20th Century ; }, abstract = {For more than a century, geneticists have consistently identified the origins of their science with Gregor Mendel's experiments on peas. Mendelism, they have said, demonstrated at long last that biological inheritance was not, as had so often been supposed, "blending," but particulate. Many historians of biology continue to interpret the conflict of biometricians and Mendelians at the start of the twentieth century in these terms, identifying biometry with the (incorrect) blending mechanism. But this view of blending is history as war by other means. While Francis Galton's contrast between blended and alternate inheritance had become familiar by 1905, he and his interpreters understood the two forms as differing outcomes of breeding, not as rival theories. Only a few biologists in this period went beyond blending as a description of results of breeding to a blending mechanism, and these were not biometricians. Recognizing this, we can see also that statistical methods and models were central to evolutionary genetics right from the start. The evolutionary synthesis, while reshaping their role, did not create it.}, }
@article {pmid24778238, year = {2014}, author = {Worobey, M and Han, GZ and Rambaut, A}, title = {Genesis and pathogenesis of the 1918 pandemic H1N1 influenza A virus.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {22}, pages = {8107-8112}, pmid = {24778238}, issn = {1091-6490}, support = {095831//Wellcome Trust/United Kingdom ; 260864/ERC_/European Research Council/International ; R01 AI084691/AI/NIAID NIH HHS/United States ; 092807/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Adult ; Aged ; Animals ; Biological Evolution ; Birds ; Child ; Disease Resistance/immunology ; Genetic Variation ; Humans ; Influenza A Virus, H1N1 Subtype/genetics/immunology/pathogenicity ; Influenza A Virus, H3N2 Subtype/genetics/immunology/pathogenicity ; Influenza A Virus, H3N8 Subtype/genetics/immunology/pathogenicity ; Influenza A Virus, H5N1 Subtype/genetics/immunology/pathogenicity ; Influenza A Virus, H7N9 Subtype/genetics/immunology/pathogenicity ; Influenza A virus/*genetics/*immunology/pathogenicity ; Influenza Pandemic, 1918-1919/*mortality ; Influenza, Human/*mortality/*virology ; Phylogeny ; Reassortant Viruses/*genetics/immunology/pathogenicity ; Swine ; Virulence ; }, abstract = {The source, timing, and geographical origin of the 1918-1920 pandemic influenza A virus have remained tenaciously obscure for nearly a century, as have the reasons for its unusual severity among young adults. Here, we reconstruct the origins of the pandemic virus and the classic swine influenza and (postpandemic) seasonal H1N1 lineages using a host-specific molecular clock approach that is demonstrably more accurate than previous methods. Our results suggest that the 1918 pandemic virus originated shortly before 1918 when a human H1 virus, which we infer emerged before ∼1907, acquired avian N1 neuraminidase and internal protein genes. We find that the resulting pandemic virus jumped directly to swine but was likely displaced in humans by ∼1922 by a reassortant with an antigenically distinct H1 HA. Hence, although the swine lineage was a direct descendent of the pandemic virus, the post-1918 seasonal H1N1 lineage evidently was not, at least for HA. These findings help resolve several seemingly disparate observations from 20th century influenza epidemiology, seroarcheology, and immunology. The phylogenetic results, combined with these other lines of evidence, suggest that the high mortality in 1918 among adults aged ∼20 to ∼40 y may have been due primarily to their childhood exposure to a doubly heterosubtypic putative H3N8 virus, which we estimate circulated from ∼1889-1900. All other age groups (except immunologically naive infants) were likely partially protected by childhood exposure to N1 and/or H1-related antigens. Similar processes may underlie age-specific mortality differences between seasonal H1N1 vs. H3N2 and human H5N1 vs. H7N9 infections.}, }
@article {pmid24762536, year = {2014}, author = {Skoglund, P and Malmström, H and Omrak, A and Raghavan, M and Valdiosera, C and Günther, T and Hall, P and Tambets, K and Parik, J and Sjögren, KG and Apel, J and Willerslev, E and Storå, J and Götherström, A and Jakobsson, M}, title = {Genomic diversity and admixture differs for Stone-Age Scandinavian foragers and farmers.}, journal = {Science (New York, N.Y.)}, volume = {344}, number = {6185}, pages = {747-750}, doi = {10.1126/science.1253448}, pmid = {24762536}, issn = {1095-9203}, mesh = {Agriculture/*history ; DNA, Mitochondrial/*genetics/history ; *Genetic Variation ; *Genome, Human ; Genomics ; History, Ancient ; Humans ; Scandinavian and Nordic Countries ; White People/*genetics/history ; }, abstract = {Prehistoric population structure associated with the transition to an agricultural lifestyle in Europe remains a contentious idea. Population-genomic data from 11 Scandinavian Stone Age human remains suggest that hunter-gatherers had lower genetic diversity than that of farmers. Despite their close geographical proximity, the genetic differentiation between the two Stone Age groups was greater than that observed among extant European populations. Additionally, the Scandinavian Neolithic farmers exhibited a greater degree of hunter-gatherer-related admixture than that of the Tyrolean Iceman, who also originated from a farming context. In contrast, Scandinavian hunter-gatherers displayed no significant evidence of introgression from farmers. Our findings suggest that Stone Age foraging groups were historically in low numbers, likely owing to oscillating living conditions or restricted carrying capacity, and that they were partially incorporated into expanding farming groups.}, }
@article {pmid24747808, year = {2014}, author = {Theunissen, B}, title = {Practical animal breeding as the key to an integrated view of genetics, eugenics and evolutionary theory: Arend L. Hagedoorn (1885-1953).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {46}, number = {}, pages = {55-64}, doi = {10.1016/j.shpsc.2014.03.004}, pmid = {24747808}, issn = {1879-2499}, mesh = {Animal Husbandry/*history ; Animals ; Biological Evolution ; Breeding/*history ; Eugenics/*history ; Genetics/*history ; History, 20th Century ; }, abstract = {In the history of genetics Arend Hagedoorn (1885-1953) is mainly known for the 'Hagedoorn effect', which states that part of the changes in variability that populations undergo over time are due to chance effects. Leaving this contribution aside, Hagedoorn's work has received scarcely any attention from historians. This is mainly due to the fact that Hagedoorn was an expert in animal breeding, a field that historians have only recently begun to explore. His work provides an example of how a prominent geneticist envisaged animal breeding to be reformed by the new science of heredity. Hagedoorn, a pupil of Hugo de Vries, tried to integrate his insights as a Mendelian geneticist and an animal breeding expert in a unified view of heredity, eugenics and evolution. In this paper I aim to elucidate how these fields were connected in Hagedoorn's work.}, }
@article {pmid24727029, year = {2014}, author = {Padrón, G and Domont, GB}, title = {Two decades of proteomics in Latin America: a personal view.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {83-92}, doi = {10.1016/j.jprot.2014.03.045}, pmid = {24727029}, issn = {1876-7737}, mesh = {Animals ; Escherichia coli/chemistry/metabolism ; Escherichia coli Proteins/chemistry/metabolism ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Latin America ; Male ; Mice ; Periodicals as Topic/history ; Pregnancy ; Pregnancy Proteins/chemistry/metabolism ; Proteomics/*history/*methods ; }, abstract = {UNLABELLED: Proteomics is the charming young daughter of classical protein chemistry. It was conceived in 1975, year of invention of the first proteomic technique, the procedure to separate Escherichia coli and mouse tissue proteins in a two-dimensional polyacrylamide gel. Pregnancy, however, lasted for over 10years and deliverance occurred together with sister protein mass spectrometry. Jointly, the two techniques changed protein chemistry moving it from the study of single molecular entities to whole cell extracts and fluids. This review does not propose to report state-of-the art in proteomics in Latin America but rather to describe its development with emphasis on leading Brazil and Cuba as well as discuss proteomic research in these and other countries exposing the history and stories of researchers and selected laboratories that contributed to its establishment and development in the last 20years.<br><br>BIOLOGICAL SIGNIFICANCE: This manuscript accounts for the fact that proteomics was present in Latin America since its birth. However, because the political and the economic situation in the region during the eighties and nineties were not favorable for science expansion, its beginning was shy. This changed at the dawn of the 21st century in such a way that a Latin American country, Brazil, became number 10 in manuscripts published in high impact journals as the Journal of Proteomics and Proteomics in 2012/2013. Interestingly, actual prevailing research themes come from centenary protein areas of study - e.g. neglected diseases - that quickly migrated from classical protein chemistry to proteomics, especially human parasites and snake, scorpion and spider venoms. This article is part of a Special Issue entitled: "20years of Proteomics" in memory of Viatliano Pallini" Guest Editors: Luca Bini, Juan J. Calvete, Natacha Turck, Denis Hochstrasser and Jean-Charles Sanchez.}, }
@article {pmid24680916, year = {2014}, author = {Sun, Y and He, X and Glenny, D}, title = {Transantarctic disjunctions in Schistochilaceae (Marchantiophyta) explained by early extinction events, post-Gondwanan radiations and palaeoclimatic changes.}, journal = {Molecular phylogenetics and evolution}, volume = {76}, number = {}, pages = {189-201}, doi = {10.1016/j.ympev.2014.03.018}, pmid = {24680916}, issn = {1095-9513}, mesh = {Antarctic Regions ; Climate Change/*history ; *Extinction, Biological ; Genome, Chloroplast/genetics ; Hepatophyta/*genetics ; History, Ancient ; Magnoliopsida/genetics ; New Zealand ; *Phylogeny ; Phylogeography ; Sequence Analysis, DNA ; South America ; }, abstract = {The liverworts are the first diverging land plant group with origins in the Ordovician. The family Schistochilaceae exhibits diverse morphology and widely disjunct geographic ranges within the Southern Hemisphere. The family has been presented as a classic example of Gondwanan biogeographic distribution, with extant species ranges resulting from vicariance events. In this study, we present results that elucidate the origin and diversification of Schistochilaceae. We conducted a comprehensive time-calibrated, molecular-based phylogenetic analysis and different approaches for ancestral range inference of the family. Schistochilaceae is inferred to have originated in the Late Cretaceous, in an ancestral area including southern South America, West Antarctica and New Zealand. Despite a family origin at c. 100Ma, most of the diversification of Schistochilaceae occurred in New Zealand after the 80Ma opening of the Tasman Sea that isolated New Zealand from the rest of Gondwana. Most dispersals were transoceanic. The northward migration of the Schistochilaceae is probably linked with the spread of temperate vascular plant forest ecosystems that have Late Cretaceous southern origins and have maintained suitable environments for the family throughout the Cenozoic. The distribution and biogeographic history of the family is very similar to that of Nothofagaceae.}, }
@article {pmid24650856, year = {2014}, author = {Berry, D}, title = {The plant breeding industry after pure line theory: Lessons from the National Institute of Agricultural Botany.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {46}, number = {}, pages = {25-37}, doi = {10.1016/j.shpsc.2014.02.006}, pmid = {24650856}, issn = {1879-2499}, mesh = {Agriculture/*history ; Botany/*history ; Breeding/*history ; England ; History, 20th Century ; Plants/*genetics ; }, abstract = {In the early twentieth century, Wilhelm Johannsen proposed his pure line theory and the genotype/phenotype distinction, work that is prized as one of the most important founding contributions to genetics and Mendelian plant breeding. Most historians have already concluded that pure line theory did not change breeding practices directly. Instead, breeding became more orderly as a consequence of pure line theory, which structured breeding programmes and eliminated external heritable influences. This incremental change then explains how and why the large multi-national seed companies that we know today were created; pure lines invited standardisation and economies of scale that the latter were designed to exploit. Rather than focus on breeding practice, this paper examines the plant varietal market itself. It focusses upon work conducted by the National Institute of Agricultural Botany (NIAB) during the interwar years, and in doing so demonstrates that, on the contrary, the pure line was actually only partially accepted by the industry. Moreover, claims that contradicted the logic of the pure line were not merely tolerated by the agricultural geneticists affiliated with NIAB, but were acknowledged and legitimised by them. The history of how and why the plant breeding industry was transformed remains to be written.}, }
@article {pmid24563505, year = {2014}, author = {Crowe, PD and Vanarsdale, TL and Walter, BN and Ware, CF and Hession, C and Ehrenfels, B and Browning, JL and Din, WS and Goodwin, RG and Smith, CA}, title = {Pillars article: A lymphotoxin-B-specific receptor. Science. 1994. 264: 707-710.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {192}, number = {5}, pages = {2015-2018}, pmid = {24563505}, issn = {1550-6606}, mesh = {Animals ; History, 20th Century ; Humans ; *Lymphotoxin beta Receptor/genetics/immunology ; *Lymphotoxin-alpha/genetics/immunology ; *Lymphotoxin-beta/genetics/immunology ; *Protein Multimerization/genetics/immunology ; }, }
@article {pmid24563504, year = {2014}, author = {De Togni, P and Goellner, J and Ruddle, NH and Streeter, PR and Andrea, F and Mariathasan, S and Smith, SC and Carlson, R and Shornick, LP and Strauss-Schoenberger, J and Russell, JH and Karr, R and Chaplin, DD}, title = {Pillars article: Abnormal development of peripheral lymphoid organs in mice deficient in lymphotoxin. Science. 1994. 264: 703-707.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {192}, number = {5}, pages = {2010-2014}, pmid = {24563504}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocytes/cytology/immunology ; CD4-Positive T-Lymphocytes/cytology/immunology ; CD8-Positive T-Lymphocytes/cytology/immunology ; History, 20th Century ; Lymphotoxin-alpha/genetics/*immunology ; Mice ; Mice, Mutant Strains ; Peyer's Patches/cytology/*growth &amp; development/immunology ; Spleen/cytology/*growth &amp; development/immunology ; Thymus Gland/cytology/*growth &amp; development/immunology ; }, }
@article {pmid24525884, year = {2014}, author = {Evans, MI and Andriole, S and Britt, DW}, title = {Fetal reduction: 25 years' experience.}, journal = {Fetal diagnosis and therapy}, volume = {35}, number = {2}, pages = {69-82}, doi = {10.1159/000357974}, pmid = {24525884}, issn = {1421-9964}, mesh = {Female ; History, 20th Century ; History, 21st Century ; Humans ; Pregnancy ; Pregnancy Complications/*prevention &amp; control ; Pregnancy Outcome ; Pregnancy Reduction, Multifetal/ethics/*history ; Pregnancy, Multiple ; Single Embryo Transfer ; }, abstract = {Fetal reduction (FR) began in the 1980s to salvage the pregnancies of couples needing fertility therapy who were finally successful but with too many fetuses. Since then, it has gone from a rarity performed in only the highest risk situations to an integral fail-safe of infertility practice. Our understanding of the problems of multiple and premature births has increased - even twins carry 4-5 times more risk than singletons. Evaluation of fetuses before FR has permitted more intelligent choices and improved resultant outcomes. We now perform chorionic villus sampling in approximately 85% of cases, obtain fluorescent in situ hybridization (FISH) results overnight, and then perform FR the next day. Decisions about which to reduce prioritize anomalies, but now can include fetal gender in the decision process, as couples are now just as likely to want girls as boys. In Mendelian cases, sophisticated molecular analyses permit diagnoses before FR, and new uses such as paternity analysis can be performed. Ethical arguments have also evolved; as with many technologies in which the start was for only 'life or death cases', FR has also moved into 'quality of life' issues. FR of twins to a singleton now compromise about 30% of our cases.}, }
@article {pmid24502031, year = {2013}, author = {Amihăesei, IC and Stefanachi, E}, title = {Autism, an overwhelming condition: history, etiopathogenesis, types, diagnosis, therapy and prognosis.}, journal = {Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi}, volume = {117}, number = {3}, pages = {654-661}, pmid = {24502031}, issn = {0048-7848}, mesh = {Austria ; Autistic Disorder/*diagnosis/etiology/*genetics/history/therapy ; Brain/pathology ; Child ; Child, Preschool ; *Communication/history ; History, 20th Century ; History, 21st Century ; Humans ; Prognosis ; Risk Factors ; Severity of Illness Index ; *Social Behavior/history ; *Stereotyped Behavior ; Surveys and Questionnaires ; United States ; }, abstract = {Autism is defined as a neurologic developmental disorder affecting brain and behavior, becoming usually apparent before 3 years of age, with stable evolution and no remission. No neurologic morphologic abnormality was associated with the disease. Several types of disease being described, autism is part of a larger spectrum known as autism spectrum disorders (ASD), or pervasive developmental disorders (PDD). The disease was first described long before it was defined and it has received its modern name. Main cause in the development of autism is considered to be genetic, up to 90 %. However, environmental factors could be incriminated, sometimes. The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical autism, Rett syndrome and childhood disintegrative disorder (CDD). The classical triad of symptoms includes: social interaction impairments, communication impairments and repetitive, stereotype behavior. Diagnosis is based on interview of the parents and specialized observation of the suspected children. Main tools used in therapy are the family and the educational system. Well established, specialized programs of therapy were developed in time. Prognosis of autism is severe, since no cure is possible; nevertheless spontaneous recoveries do occur, in some cases.}, }
@article {pmid24489667, year = {2014}, author = {Little, MP and Kukush, AG and Masiuk, SV and Shklyar, S and Carroll, RJ and Lubin, JH and Kwon, D and Brenner, AV and Tronko, MD and Mabuchi, K and Bogdanova, TI and Hatch, M and Zablotska, LB and Tereshchenko, VP and Ostroumova, E and Bouville, AC and Drozdovitch, V and Chepurny, MI and Kovgan, LN and Simon, SL and Shpak, VM and Likhtarev, IA}, title = {Impact of uncertainties in exposure assessment on estimates of thyroid cancer risk among Ukrainian children and adolescents exposed from the Chernobyl accident.}, journal = {PloS one}, volume = {9}, number = {1}, pages = {e85723}, pmid = {24489667}, issn = {1932-6203}, support = {R01 CA057030/CA/NCI NIH HHS/United States ; R37 CA057030/CA/NCI NIH HHS/United States ; /ImNIH/Intramural NIH HHS/United States ; R37-CA057030/CA/NCI NIH HHS/United States ; }, mesh = {Adolescent ; *Chernobyl Nuclear Accident ; Child ; Child, Preschool ; Dose-Response Relationship, Radiation ; *Environmental Exposure ; Female ; Humans ; Incidence ; Infant ; Infant, Newborn ; *Iodine Radioisotopes ; Likelihood Functions ; Male ; Monte Carlo Method ; Neoplasms, Radiation-Induced/diagnosis/*epidemiology/pathology ; Odds Ratio ; Radiometry ; Risk Factors ; Thyroid Gland/pathology/radiation effects ; Thyroid Neoplasms/diagnosis/*epidemiology/pathology ; Ukraine/epidemiology ; Uncertainty ; }, abstract = {The 1986 accident at the Chernobyl nuclear power plant remains the most serious nuclear accident in history, and excess thyroid cancers, particularly among those exposed to releases of iodine-131 remain the best-documented sequelae. Failure to take dose-measurement error into account can lead to bias in assessments of dose-response slope. Although risks in the Ukrainian-US thyroid screening study have been previously evaluated, errors in dose assessments have not been addressed hitherto. Dose-response patterns were examined in a thyroid screening prevalence cohort of 13,127 persons aged <18 at the time of the accident who were resident in the most radioactively contaminated regions of Ukraine. We extended earlier analyses in this cohort by adjusting for dose error in the recently developed TD-10 dosimetry. Three methods of statistical correction, via two types of regression calibration, and Monte Carlo maximum-likelihood, were applied to the doses that can be derived from the ratio of thyroid activity to thyroid mass. The two components that make up this ratio have different types of error, Berkson error for thyroid mass and classical error for thyroid activity. The first regression-calibration method yielded estimates of excess odds ratio of 5.78 Gy(-1) (95% CI 1.92, 27.04), about 7% higher than estimates unadjusted for dose error. The second regression-calibration method gave an excess odds ratio of 4.78 Gy(-1) (95% CI 1.64, 19.69), about 11% lower than unadjusted analysis. The Monte Carlo maximum-likelihood method produced an excess odds ratio of 4.93 Gy(-1) (95% CI 1.67, 19.90), about 8% lower than unadjusted analysis. There are borderline-significant (p = 0.101-0.112) indications of downward curvature in the dose response, allowing for which nearly doubled the low-dose linear coefficient. In conclusion, dose-error adjustment has comparatively modest effects on regression parameters, a consequence of the relatively small errors, of a mixture of Berkson and classical form, associated with thyroid dose assessment.}, }
@article {pmid24401020, year = {2014}, author = {Devault, AM and Golding, GB and Waglechner, N and Enk, JM and Kuch, M and Tien, JH and Shi, M and Fisman, DN and Dhody, AN and Forrest, S and Bos, KI and Earn, DJ and Holmes, EC and Poinar, HN}, title = {Second-pandemic strain of Vibrio cholerae from the Philadelphia cholera outbreak of 1849.}, journal = {The New England journal of medicine}, volume = {370}, number = {4}, pages = {334-340}, doi = {10.1056/NEJMoa1308663}, pmid = {24401020}, issn = {1533-4406}, mesh = {Bacterial Typing Techniques ; Cholera/epidemiology/*history/microbiology ; DNA, Bacterial/isolation &amp; purification ; DNA, Mitochondrial/analysis ; Evolution, Molecular ; Genome, Bacterial ; Genomic Islands ; History, 19th Century ; Humans ; Intestines/microbiology/pathology ; Male ; Pandemics/*history ; Philadelphia/epidemiology ; Phylogeny ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Vibrio cholerae/classification/*genetics/pathogenicity ; Virulence ; Virulence Factors/analysis ; }, abstract = {In the 19th century, there were several major cholera pandemics in the Indian subcontinent, Europe, and North America. The causes of these outbreaks and the genomic strain identities remain a mystery. We used targeted high-throughput sequencing to reconstruct the Vibrio cholerae genome from the preserved intestine of a victim of the 1849 cholera outbreak in Philadelphia, part of the second cholera pandemic. This O1 biotype strain has 95 to 97% similarity with the classical O395 genome, differing by 203 single-nucleotide polymorphisms (SNPs), lacking three genomic islands, and probably having one or more tandem cholera toxin prophage (CTX) arrays, which potentially affected its virulence. This result highlights archived medical remains as a potential resource for investigations into the genomic origins of past pandemics.}, }
@article {pmid24387667, year = {2014}, author = {Rosenberg, LE}, title = {DNA and other strands: the making of a human geneticist.}, journal = {Annual review of genomics and human genetics}, volume = {15}, number = {}, pages = {1-26}, doi = {10.1146/annurev-genom-090413-025505}, pmid = {24387667}, issn = {1545-293X}, mesh = {DNA/*genetics ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, abstract = {This article--a mini-memoir--focuses on the first half of my half-century-long career as a human geneticist: its accidental beginnings; its early bad and then good fortunes at the National Institutes of Health; its serendipitous successes and career-making scientific productivity at Yale; and its incalculable fortuity in the form of the large number of talented and resourceful mentors, colleagues, postdoctoral fellows, graduate students, and technicians who worked with me. These years acted as a launchpad for positions of visibility and leadership that followed them. My personal odyssey, which began in Madison, Wisconsin, and meandered with no fixed plan to New York, Bethesda, New Haven, and Princeton, has offered me life views as a human and medical geneticist that are panoramic, splendid, and indelible. I doubt that many people have been as fortunate as I have been in the professional life I have lived--and continue to live.}, }
@article {pmid25811684, year = {2014}, author = {Ambrose, CT}, title = {Andreas Vesalius (1514-1564) - an unfinished life.}, journal = {Acta medico-historica adriatica : AMHA}, volume = {12}, number = {2}, pages = {217-230}, pmid = {25811684}, issn = {1334-4366}, mesh = {Anatomy/*history ; History, 16th Century ; Holy Roman Empire ; Italy ; Physicians/*history ; Reference Books, Medical ; Spain ; }, abstract = {The fame of Andreas Vesalius (1514-1564) rests on his anatomy text, De humani corporis fabrica, regarded as a seminal book in modern medicine. It was compiled while he taught anatomy at Padua, 1537-1543. Some of his findings challenged Galen's writings of the 2c AD, and caused De fabrica to be rejected immediately by classically trained anatomists. At age 29, Vesalius abandoned his studies and over the next two decades served as physician to Emperor Charles V of the Holy Roman Empire (HRE) and later to King Philip II of Spain in Madrid. In 1564, he sought to resume teaching anatomy in Padua, but release from royal service obliged him first to make a pilgrimage to Palestine. During the return voyage to Venice, he became ill and was put ashore alone on an Ionian island Zakynthos, where he died days later at age 50.}, }
@article {pmid24372556, year = {2014}, author = {Nicholas, FW and Hobbs, M}, title = {Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.}, journal = {Animal genetics}, volume = {45}, number = {2}, pages = {157-170}, pmid = {24372556}, issn = {1365-2052}, mesh = {Animals ; DNA Mutational Analysis/history/*veterinary ; Databases, Genetic/history ; Genetic Association Studies/history/*veterinary ; Genetic Linkage ; History, 20th Century ; History, 21st Century ; Microsatellite Repeats ; *Mutation ; Polymorphism, Single Nucleotide ; }, abstract = {Within two years of the re-discovery of Mendelism, Bateson and Saunders had described six traits in non-laboratory animals (five in chickens and one in cattle) that show single-locus (Mendelian) inheritance. In the ensuing decades, much progress was made in documenting an ever-increasing number of such traits. In 1987 came the first discovery of a causal mutation for a Mendelian trait in non-laboratory animals: a non-sense mutation in the thyroglobulin gene (TG), causing familial goitre in cattle. In the years that followed, the rate of discovery of causal mutations increased, aided mightily by the creation of genome-wide microsatellite maps in the 1990s and even more mightily by genome assemblies and single-nucleotide polymorphism (SNP) chips in the 2000s. With sequencing costs decreasing rapidly, by 2012 causal mutations were being discovered in non-laboratory animals at a rate of more than one per week. By the end of 2012, the total number of Mendelian traits in non-laboratory animals with known causal mutations had reached 499, which was half the number of published single-locus (Mendelian) traits in those species. The distribution of types of mutations documented in non-laboratory animals is fairly similar to that in humans, with almost half being missense or non-sense mutations. The ratio of missense to non-sense mutations in non-laboratory animals to the end of 2012 was 193:78. The fraction of non-sense mutations (78/271 = 0.29) was not very different from the fraction of non-stop codons that are just one base substitution away from a stop codon (21/61 = 0.34).}, }
@article {pmid24365315, year = {2014}, author = {van der Kooi, AJ and de Visser, M}, title = {Idiopathic inflammatory myopathies.}, journal = {Handbook of clinical neurology}, volume = {119}, number = {}, pages = {495-512}, doi = {10.1016/B978-0-7020-4086-3.00032-1}, pmid = {24365315}, issn = {0072-9752}, mesh = {History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Myositis/*diagnosis/*epidemiology/history/*therapy ; }, abstract = {Idiopathic inflammatory myopathies (IIMs), except for sporadic inclusion body myositis (sIBM), present with subacute symmetrical weakness of the limb girdle muscles, an elevated serum creatine kinase activity, and inflammatory cells in the muscle biopsy (necrotizing autoimmune myopathy being an exception). In dermatomyositis, additional skin abnormalities are found. IIMs are nowadays subclassified into the following categories: (1) dermatomyositis (DM), including (1a) classic dermatomyositis, which may be associated with connective tissue disorders (CTDs) and malignancy, (1b) juvenile dermatomyositis, and (1c) clinical amyopathic dermatomyositis; (2) polymyositis (PM) encompassing (2a) classical PM and (2b) nonspecific or overlap myositis, associated with CTD; (3) autoimmune necrotizing myopathy, associated with malignancy, statin use and CTD; and (4) sporadic IBM, sometimes associated with CTDs. These conditions result from chronic immune activation after exposure to environmental risk factors in individuals with a predisposing genetic background. A strong association of autoantibodies with distinct clinical phenotypes and prognosis is found in patients with myositis. Inflammatory myopathies, sporadic IBM excluded, are amenable to immunosuppressive and immunomodulation therapies. The prognosis of IIM is not well known since long-term outcome and prognostic factors vary widely. Disease-related mortality rates in PM and DM are at least 10%. In DM mortality is attributed to cancer and pulmonary complications. Juvenile dermatomyositis has a low mortality rate. Because chronic immunosuppressive therapy is associated with significant side-effects, and many patients remain (partially) refractory to treatment, novel therapeutic agents that are safe and effective are needed.}, }
@article {pmid24363431, year = {2014}, author = {Snell, GD}, title = {Pillars article: Methods for the study of histocompatibility genes. J. Genet. 1948. 49: 87-108.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {192}, number = {1}, pages = {5-26}, pmid = {24363431}, issn = {1550-6606}, mesh = {Animals ; Genetic Techniques ; Genetics/*history ; Histocompatibility/*genetics ; History, 20th Century ; Mice ; }, }
@article {pmid24360034, year = {2014}, author = {Shapiro, AR}, title = {Darwin's foil: the evolving uses of William Paley's Natural Theology 1802-2005.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {45}, number = {}, pages = {114-123}, doi = {10.1016/j.shpsc.2013.11.010}, pmid = {24360034}, issn = {1879-2499}, mesh = {*Biological Evolution ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Literature, Modern/*history ; Philosophy/*history ; Religious Philosophies/*history ; Science/*history ; Selection, Genetic ; Theology/*history ; }, abstract = {This essay traces the divergent readings of William Paley's 1802 Natural Theology from its initial publication to the recent controversies over intelligent design. It argues that the misinterpretation of the Natural Theology as a scientific argument about the origins of complex life-which Darwin's Origin of Species refutes-did not develop all at once. Rather this reading evolved gradually, drawing from a variety of uses and appropriations during the course of the nineteenth and twentieth centuries. This study demonstrates the fluidity of "science" and "religion" during these centuries, and highlights the role that genres of science popularization play in altering the meaning of those categories.}, }
@article {pmid24337721, year = {2014}, author = {Lange, J and Groth, M and Kanrai, P and Pleschka, S and Scholtissek, C and Dürrwald, R and Platzer, M and Sauerbrei, A and Zell, R}, title = {Circulation of classical swine influenza virus in Europe between the wars?.}, journal = {Archives of virology}, volume = {159}, number = {6}, pages = {1467-1473}, doi = {10.1007/s00705-013-1950-x}, pmid = {24337721}, issn = {1432-8798}, mesh = {Animals ; Antigens, Viral/genetics ; England ; Evolution, Molecular ; History, 20th Century ; Humans ; Influenza A Virus, H1N1 Subtype/*classification/genetics/isolation &amp; purification ; Influenza, Human/*epidemiology/history/*virology ; Orthomyxoviridae Infections/*epidemiology/history/*virology ; Swine ; Swine Diseases/*epidemiology/history/*virology ; }, abstract = {The complete genomes of two swine influenza viruses from England were sequenced. Phylogenetic analysis revealed classical swine H1N1 viruses, one of which, A/swine/London, is closely related to virus strains of the early 1930s. Both strains are also antigenically related to A/swine/Iowa/15/1930, the strain originally isolated by Richard Shope. The source of A/swine/London is unknown, but its relationship to early classical swine influenza viruses suggests that the emergence of these viruses in Europe has to be antedated by 15-20 years.}, }
@article {pmid24316443, year = {2014}, author = {Righetti, PG}, title = {The Monkey King: a personal view of the long journey towards a proteomic Nirvana.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {39-49}, doi = {10.1016/j.jprot.2013.11.026}, pmid = {24316443}, issn = {1876-7737}, mesh = {Databases, Protein/history/trends ; History, 20th Century ; History, 21st Century ; Humans ; Peptide Library ; Proteomics/*history/instrumentation/*methods/*trends ; }, abstract = {UNLABELLED: The review covers about fifty years of progress in "proteome" analysis, starting from primitive two-dimensional (2D) map attempts in the early sixties of last century. The polar star in 2D mapping arose in 1975 with the classic paper by O'Farrell in J Biol. Chem. It became the compass for all proteome navigators. Perfection came, though, only with the introduction of immobilized pH gradients, which fixed the polypeptide spots in the 2D plane. Great impetus in proteome analysis came with the introduction of informatic tools and creating databases, among which Swiss Prot remains the site of excellence. Towards the end of the nineties, 2D chromatography, epitomized by coupling strong cation exchangers with C18 resins, began to be a serious challenge to electrophoretic 2D mapping, although up to the present both techniques are still much in vogue and appear to give complementary results. Yet the migration of "proteomics" into the third millennium was made possible only by mass spectrometry (MS), which today represents the standard analytical tool in any lab dealing with proteomic analysis. Another major improvement has been the introduction of combinatorial peptide ligand libraries (CPLL), which, when properly used, enhance the visibility of low-abundance species by 3 to 4 orders of magnitude. Coupling MS to CPLLs permits the exploration of at least 8 orders of magnitude in dynamic range on any proteome.<br><br>BIOLOGICAL SIGNIFICANCE: The present review is a personal recollection highlighting the developments that led to present-day proteomics on a long march that lasted about 50years. It is meant to give to young scientists an overview on how science grows, which ones are the quantum jumps in science and which research is of particular significance in general and in the field of proteomics in particular. It also gives some real-life episodes of greater-than-life figures. As such, it can be viewed as a tutorial to stimulate the young generation to be creative (and use their imagination too!).This article is part of a Special Issue entitled: 20years of Proteomics in memory of Viatliano Pallini. Guest Editors: Luca Bini, Juan J. Calvete, Natacha Turck, Denis Hochstrasser and Jean-Charles Sanchez.}, }
@article {pmid24281370, year = {2014}, author = {Tremblay, M and Bouhali, T and Gaudet, D and Brisson, D}, title = {Genealogical analysis as a new approach for the investigation of drug intolerance heritability.}, journal = {European journal of human genetics : EJHG}, volume = {22}, number = {7}, pages = {916-922}, pmid = {24281370}, issn = {1476-5438}, mesh = {Aged ; Female ; *Genealogy and Heraldry ; Genetic Diseases, Inborn/*genetics ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/*adverse effects/therapeutic use ; Hypercholesterolemia/drug therapy/*genetics ; Male ; Middle Aged ; Muscular Diseases/chemically induced/*genetics ; *Mutation, Missense ; Quebec ; Receptors, LDL/*genetics ; }, abstract = {Genealogical analysis has proven a useful method to understand the origins and frequencies of hereditary diseases in many populations. However, this type of analysis has not yet been used for the investigation of drug intolerance among patients suffering from inherited disorders. This study aims to do so, using data from familial hypercholesterolemia (FH) patients receiving high doses of statins. The objective is to measure and compare various genealogical parameters that could shed light on the origins and heritability of muscular intolerance to statins using FH as a model. Analysis was performed on 224 genealogies from 112 FH subjects carrying either the low-density lipoprotein receptor (LDLR) prom_e1 deletion>15 kb (n=28) or c.259T>G (p.Trp87Gly) (n=84) mutations and 112 non-FH controls. Number of ancestors, geographical origins and genetic contribution of founders, inbreeding and kinship coefficients were calculated using the S-Plus-based GENLIB software package. For both mutations, repeated occurrences of the same ancestors are more frequent among the carriers' genealogies than among the controls', but no difference was observed between tolerant and intolerant subjects. Founders who may have introduced both mutations in the population appear with approximately the same frequencies in all genealogies. Kinship coefficients are higher among carriers, with no difference according to statins tolerance. Inbreeding coefficients are slightly lower among >15-kb deletion carriers than among c.259 T>G carriers, but the differences between tolerants and intolerants are not significant. These findings suggest that although muscular intolerance to statins shows a family aggregation, it is not transmitted through the same Mendelian pattern as LDLR mutations.}, }
@article {pmid24246974, year = {2013}, author = {Rogler, G}, title = {The history and philosophy of inflammatory bowel disease.}, journal = {Digestive diseases (Basel, Switzerland)}, volume = {31}, number = {3-4}, pages = {270-277}, doi = {10.1159/000354676}, pmid = {24246974}, issn = {1421-9875}, mesh = {History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Inflammatory Bowel Diseases/etiology/*history/pathology/*physiopathology ; Models, Biological ; Syndrome ; }, abstract = {Many interesting statements about inflammatory bowel diseases (IBD) and also Crohn's disease have been made in recent years in journals and scientific meetings. They have influenced our thinking and the perception of the diseases. Among these statements is the notion that IBDs are 'relatively new diseases', that 'IBD is rather a syndrome than a disease' or that with the new insights into pathophysiology, 'we will be able to discriminate many different Crohn's diseases based on genetic risk factors'. A look into history and philosophy may help to clarify misconceptions and prove that many of these statements are either wrong or misleading. People suffered from symptoms that are suggestive of Crohn's disease centuries before the disease concept evolved in the early 19th century and before Burrill B. Crohn could describe a complex of symptoms he suggested to be a so far non-identified disease. Early concepts on the pathophysiology of CD were not so different to present-time theories as it may be assumed. 'Pre-ideas' and basic concepts were leading the search for a cause of Crohn's disease and IBD. With respect to pathophysiology, we have to accept that most likely we will never come up with one unifying concept ('the cause of IBD') as different scientific schools and think-collectives exist. Therefore, the 'classical adaptive immunologists' and the 'innate immunologist' as well as scientists focused on barrier function or the microbiome will never completely understand each other and each other's concepts. As for many other diseases, several different pathophysiological concepts existed in parallel and will do so in the future as it is impossible to prove the exclusive 'truth' of one of the concepts for reasons that will be further discussed below. This means on the other hand that none of the concepts on pathophysiology of IBD we have at present will ever unequivocally be proven to be wrong.}, }
@article {pmid24183014, year = {2013}, author = {Freeman, MR and Rowitch, DH}, title = {Evolving concepts of gliogenesis: a look way back and ahead to the next 25 years.}, journal = {Neuron}, volume = {80}, number = {3}, pages = {613-623}, pmid = {24183014}, issn = {1097-4199}, support = {R01 NS053538/NS/NINDS NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Animals ; *Biological Evolution ; Cell Differentiation/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; Neuroglia/classification/*physiology ; Neurosciences/*history/*trends ; }, abstract = {Glial cells are present in all organisms with a CNS and, with increasing brain complexity, glial cells have undergone substantive increases in cell number, diversity, and functions. Invertebrates, such as Drosophila, possess glial subtypes with similarity to mammalian astrocytes in their basic morphology and function, representing fertile ground for unraveling fundamental aspects of glial biology. Although glial subtypes in simple organisms may be relatively homogenous, emerging evidence suggests the possibility that mammalian astrocytes might be highly diversified to match the needs of local neuronal subtypes. In this Perspective, we review classic and new roles identified for astrocytes and oligodendrocytes by recent studies. We propose that delineating genetic and developmental programs across species will be essential to understand the core functions of glia that allow enhanced neuronal function and to achieve new insights into glial roles in higher-order brain function and neurological disease.}, }
@article {pmid24166811, year = {2013}, author = {Neri, G and Marini, R and Cappa, M and Borrelli, P and Opitz, JM}, title = {Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.}, journal = {American journal of medical genetics. Part A}, volume = {161A}, number = {11}, pages = {2697-2703}, doi = {10.1002/ajmg.a.36317}, pmid = {24166811}, issn = {1552-4833}, mesh = {Arrhythmias, Cardiac/diagnosis/*history ; Genetic Diseases, X-Linked/diagnosis/*history ; Gigantism/diagnosis/*history ; Heart Defects, Congenital/diagnosis/*history ; History, 21st Century ; Humans ; Intellectual Disability/diagnosis/*history ; Male ; }, abstract = {The following paper by Professor GiovanniNeri and colleagues was originally published in 1988, American Journal of Medical Genetics 30:287–299. This paper represented a seminal work at the time of publication as it not only reported a new family with a disorder that had been called the “gigantism-dysplasia syndrome”, but also suggested naming the condition the Simpson-Golabi-Behmel syndrome. This eponym has clearly stood “the test of time”, and that designation is now widely accepted. This paper is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre-and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al. in 1975 and by Behmel et al. in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.}, }
@article {pmid24166810, year = {2013}, author = {Neri, G and Martini-Neri, ME and Katz, BE and Opitz, JM}, title = {The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.}, journal = {American journal of medical genetics. Part A}, volume = {161A}, number = {11}, pages = {2691-2696}, doi = {10.1002/ajmg.a.36316}, pmid = {24166810}, issn = {1552-4833}, mesh = {Fetal Macrosomia/*history ; History, 20th Century ; Humans ; Wilms Tumor/*history ; }, abstract = {The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.}, }
@article {pmid24035914, year = {2014}, author = {Charbogne, P and Kieffer, BL and Befort, K}, title = {15 years of genetic approaches in vivo for addiction research: Opioid receptor and peptide gene knockout in mouse models of drug abuse.}, journal = {Neuropharmacology}, volume = {76 Pt B}, number = {0 0}, pages = {204-217}, pmid = {24035914}, issn = {1873-7064}, support = {P50 DA005010/DA/NIDA NIH HHS/United States ; AA16658/AA/NIAAA NIH HHS/United States ; U01 AA013481/AA/NIAAA NIH HHS/United States ; DA05010/DA/NIDA NIH HHS/United States ; U01 AA016658/AA/NIAAA NIH HHS/United States ; }, mesh = {Animals ; Biomedical Research/*history ; Disease Models, Animal ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Mice, Knockout ; Opioid Peptides/*deficiency/genetics ; Receptors, Opioid/*deficiency/genetics ; Substance-Related Disorders/*genetics/history ; }, abstract = {The endogenous opioid system is expressed throughout the brain reinforcement circuitry, and plays a major role in reward processing, mood control and the development of addiction. This neuromodulator system is composed of three receptors, mu, delta and kappa, interacting with a family of opioid peptides derived from POMC (β-endorphin), preproenkephalin (pEnk) and preprodynorphin (pDyn) precursors. Knockout mice targeting each gene of the opioid system have been created almost two decades ago. Extending classical pharmacology, these mutant mice represent unique tools to tease apart the specific role of each opioid receptor and peptide in vivo, and a powerful approach to understand how the opioid system modulates behavioral effects of drugs of abuse. The present review summarizes these studies, with a focus on major drugs of abuse including morphine/heroin, cannabinoids, psychostimulants, nicotine or alcohol. Genetic data, altogether, set the mu receptor as the primary target for morphine and heroin. In addition, this receptor is essential to mediate rewarding properties of non-opioid drugs of abuse, with a demonstrated implication of β-endorphin for cocaine and nicotine. Delta receptor activity reduces levels of anxiety and depressive-like behaviors, and facilitates morphine-context association. pEnk is involved in these processes and delta/pEnk signaling likely regulates alcohol intake. The kappa receptor mainly interacts with pDyn peptides to limit drug reward, and mediate dysphoric effects of cannabinoids and nicotine. Kappa/dynorphin activity also increases sensitivity to cocaine reward under stressful conditions. The opioid system remains a prime candidate to develop successful therapies in addicted individuals, and understanding opioid-mediated processes at systems level, through emerging genetic and imaging technologies, represents the next challenging goal and a promising avenue in addiction research. This article is part of a Special Issue entitled 'NIDA 40th Anniversary Issue'.}, }
@article {pmid24018765, year = {2013}, author = {Stark, A and Seneta, E}, title = {Wilhelm Weinberg's early contribution to segregation analysis.}, journal = {Genetics}, volume = {195}, number = {1}, pages = {1-6}, pmid = {24018765}, issn = {1943-2631}, mesh = {*Chromosome Segregation ; Genetics, Population/*history ; Germany ; History, 19th Century ; History, 20th Century ; }, abstract = {Wilhelm Weinberg (1862-1937) is a largely forgotten pioneer of human and medical genetics. His name is linked with that of the English mathematician G. H. Hardy in the Hardy-Weinberg law, pervasive in textbooks on population genetics since it expresses stability over generations of zygote frequencies AA, Aa, aa under random mating. One of Weinberg's signal contributions, in an article whose centenary we celebrate, was to verify that Mendel's segregation law still held in the setting of human heredity, contrary to the then-prevailing view of William Bateson (1861-1926), the leading Mendelian geneticist of the time. Specifically, Weinberg verified that the proportion of recessive offspring genotypes aa in human parental crossings Aa × Aa (that is, the segregation ratio for such a setting) was indeed p=1/4. We focus in a nontechnical way on his procedure, called the simple sib method, and on the heated controversy with Felix Bernstein (1878-1956) in the 1920s and 1930s over work stimulated by Weinberg's article.}, }
@article {pmid23975928, year = {2013}, author = {Schekman, R}, title = {Discovery of the cellular and molecular basis of cholesterol control.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {110}, number = {37}, pages = {14833-14836}, pmid = {23975928}, issn = {1091-6490}, mesh = {Cholesterol/*history/metabolism ; History, 20th Century ; Humans ; Hyperlipoproteinemia Type II/genetics/history/metabolism ; Lipoproteins, LDL/history/metabolism ; Receptors, LDL/genetics/history/metabolism ; United States ; }, abstract = {The cellular control of cholesterol metabolism mediated by lipoproteins was first appreciated in pioneering work published in a 1974 PNAS Classic by Michael Brown and Joseph Goldstein. We know from this paper that the LDL binds to a cell surface receptor and dampens the activity of a key enzyme in cholesterol biosynthesis and that a receptor deficiency is responsible for a major genetic cause of hypercholesterolemia and premature atherosclerosis.}, }
@article {pmid23957702, year = {2014}, author = {Riva, MA and Manzoni, M and Isimbaldi, G and Cesana, G and Pagni, F}, title = {Histochemistry: historical development and current use in pathology.}, journal = {Biotechnic &amp; histochemistry : official publication of the Biological Stain Commission}, volume = {89}, number = {2}, pages = {81-90}, doi = {10.3109/10520295.2013.822559}, pmid = {23957702}, issn = {1473-7760}, mesh = {Histocytochemistry/*history/*trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Pathology, Molecular/history/trends ; Staining and Labeling/history/trends ; }, abstract = {We describe the history of the histochemical stains that contributed most to the development of modern pathology during the last two centuries. Histochemical stains are presented in a list, which provides the essential information about year, country and main use of each to enable the reader to follow the chronological and geographical history of histochemistry. In addition to the historical evaluation of histochemistry development, we investigate how many classical histochemical stains survive in a modern laboratory of pathology and how often they are used for diagnostic practice compared to immunohistochemical (IHC) techniques. A ratio of about one histochemical reaction to 13 IHC reactions was tabulated. Finally, our data make it possible to define different cultural approaches to the terminology of histochemical and IHC stains: the former were based on eponyms, which link the stain with the name of its inventor, while the latter use a more impersonal biological terminology.}, }
@article {pmid23918417, year = {2013}, author = {Peterson, PA}, title = {Historical overview of transposable element research.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1057}, number = {}, pages = {1-9}, doi = {10.1007/978-1-62703-568-2_1}, pmid = {23918417}, issn = {1940-6029}, mesh = {DNA Transposable Elements/*genetics ; Genes, Plant/genetics ; Genetics/*history ; History, 20th Century ; Mutation ; Zea mays/genetics ; }, abstract = {Research on transposable elements began nearly 100 years ago with classical genetic experiments. Remarkably, many of the activities of transposable elements, such as the ability to transpose, to induce chromosome rearrangements, to undergo cycles of activity and inactivity, and to affect expression of neighboring genes, were described by geneticists long before transposons were molecularly isolated. This chapter traces the historical roots of transposable element research, describing the scientists, their observations, and interpretations as they sought to understand the enigma of transposable elements.}, }
@article {pmid23873813, year = {2013}, author = {Boué, J and Boué, A and Lazar, P}, title = {Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. 1975.}, journal = {Birth defects research. Part A, Clinical and molecular teratology}, volume = {97}, number = {7}, pages = {471-486}, doi = {10.1002/bdra.23174}, pmid = {23873813}, issn = {1542-0760}, mesh = {Abortion, Spontaneous/*epidemiology/*genetics ; Adult ; Female ; History, 20th Century ; Humans ; Incidence ; *Maternal Age ; Pregnancy ; Retrospective Studies ; *Trisomy ; }, }
@article {pmid23830156, year = {2013}, author = {Sołtysiak, A and Bialon, M}, title = {Population history of the middle Euphrates valley: dental non-metric traits at Tell Ashara, Tell Masaikh and Jebel Mashtale, Syria.}, journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen}, volume = {64}, number = {5}, pages = {341-356}, doi = {10.1016/j.jchb.2013.04.005}, pmid = {23830156}, issn = {1618-1301}, mesh = {Anthropology, Physical ; Archaeology ; *Fossils ; Gene Flow ; Genetics, Population ; History, 17th Century ; History, Ancient ; History, Medieval ; Humans ; Mesopotamia ; Paleodontology ; Population Dynamics ; Syria ; Tooth/*anatomy &amp; histology ; }, abstract = {Fifty-nine dental non-metric traits were scored using Arizona State University Dental Anthropology System on a sample of teeth from 350 human skeletons excavated at three sites in the lower middle Euphrates valley. The dataset was divided into six chronological subsets: Early Bronze Age, Middle Bronze Age, Early Iron Age with Neo-Assyrian period, Classical/Late Antiquity, Early Islamic (Umayyad and Abbasid) period and Modern period. The matrix of Mean Measure of Divergence values exhibited temporal homogeneity of the sample with only dental non-metric trait scores in the Modern subset differing significantly from most other subsets. Such a result suggests that no major gene flow occurred in the middle Euphrates valley between the 3rd millennium BCE and the early 2nd millennium CE. Only after the Mongolian invasion and large depopulation of northern Mesopotamia in the 13th century CE a major population change occurred when the area was taken over in the 17th century by Bedouin tribes from the Arabian Peninsula.}, }
@article {pmid23824968, year = {2013}, author = {Edwards, AW}, title = {Robert Heath Lock and his textbook of genetics, 1906.}, journal = {Genetics}, volume = {194}, number = {3}, pages = {529-537}, pmid = {23824968}, issn = {1943-2631}, mesh = {Biological Evolution ; Chromosomes ; *Genetic Linkage ; Genetics/education/*history ; *History, 19th Century ; *History, 20th Century ; Humans ; Selection, Genetic ; }, abstract = {Robert Heath Lock (1879-1915), a Cambridge botanist associated with William Bateson and R. C. Punnett, published his book Recent Progress in the Study of Variation, Heredity, and Evolution in 1906. This was a remarkable textbook of genetics for one appearing so early in the Mendelian era. It covered not only Mendelism but evolution, natural selection, biometry, mutation, and cytology. It ran to five editions but was, despite its success, largely forgotten following Lock's early death in 1915. Nevertheless it was the book that inspired H. J. Muller to do genetics and was remembered by A. H. Sturtevant as the source of the earliest suggestion that linkage might be related to the exchange of parts between homologous chromosomes. Here we also put forward evidence that it had a major influence on the statistician and geneticist R. A. Fisher at the time he was a mathematics student at Cambridge.}, }
@article {pmid23808367, year = {2013}, author = {Rassweiler, J and Rassweiler, MC and Kenngott, H and Frede, T and Michel, MS and Alken, P and Clayman, R}, title = {The past, present and future of minimally invasive therapy in urology: a review and speculative outlook.}, journal = {Minimally invasive therapy &amp; allied technologies : MITAT : official journal of the Society for Minimally Invasive Therapy}, volume = {22}, number = {4}, pages = {200-209}, doi = {10.3109/13645706.2013.816323}, pmid = {23808367}, issn = {1365-2931}, mesh = {Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Neoplasms/surgery ; Male ; Minimally Invasive Surgical Procedures/methods/*trends ; Precision Medicine/trends ; Prostatic Neoplasms/surgery ; Societies, Medical/*history ; Urolithiasis/surgery ; Urologic Surgical Procedures/methods/*trends ; }, abstract = {INTRODUCTION: Twenty-five years of SMIT represents an important date. In this article we want to elaborate the development of minimally invasive surgery in urology during the last three decades and try to look 25 years ahead.<br><br>MATERIAL AND METHODS: As classical scenarios to demonstrate the changes which have revolutionized surgical treatment in urology, we have selected the management of urolithiasis, renal tumour, and localized prostate cancer. This was based on personal experience and a review of the recent literature on MIS in Urology on a MEDLINE/PUBMED research. For the outlook to the future, we have taken the expertise of two senior urologists, middle-aged experts, and upcoming junior fellows, respectively.<br><br>RESULTS: Management of urolithiasis has been revolutionized with the introduction of non-invasive extracorporeal shock wave lithotripsy (ESWL) and minimally invasive endourology in the mid-eighties of the last century obviating open surgery. This trend has been continued with perfection and miniaturization of endourologic armamentarium rather than significantly improving ESWL. The main goal is now to get rid of the stone in one session rather in multiple non-invasive treatment sessions. Stone treatment 25 years from today will be individualized by genetic screening of stone formers, using improved ESWL-devices for small stones and transuretereal or percutaneous stone retrieval for larger and multiple stones. Management of renal tumours has also changed significantly over the last 25 years. In 1988, open radical nephrectomy was the only therapeutic option for renal masses. Nowadays, tumour size determines the choice of treatment. Tumours >4 cm are usually treated by laparoscopic nephrectomy, smaller tumours, however, can be treated either by open, laparoscopic or robot-assisted partial nephrectomy. For patients with high co-morbidity focal tumour ablation or even active surveillance represents a viable option. In 25 years, imaging of tumours will further support early diagnosis, but will also be able to determine the pathohistological pattern of the tumour to decide whether the patient requires removal, ablation or active surveillance. Management of localized prostate cancer underwent significant changes as well. 25 years ago open retropubic nerve-sparing radical prostatectomy was introduced as the optimal option for effective treatment of the cancer providing minimal side-effects. Basically, the same operation is performed today, but with robot-assisted laparoscopic techniques providing 7-DOF instruments, 3D-vision and tenfold magnification and enabling the surgeon to work in a sitting position at the console. In 25 years, prostate cancer may be managed in most cases by focal therapy and/or genetically targeting therapy. Only a few patients may still require robot-assisted removal of the entire gland.<br><br>DISCUSSION: There has been a dramatic change in the management of the most frequent urologic diseases almost completely replacing open surgery by minimally invasive techniques. This was promoted by technical realisation of physical principles (shock waves, optical resolution, master-slave system) used outside of medicine. The future of medicine may lie in translational approaches individualizing the management based on genetic information and focalizing the treatment by further improvement of imaging technology.}, }
@article {pmid23794701, year = {2013}, author = {Gu, H and Zou, YR and Rajewsky, K}, title = {Independent control of immunoglobulin switch recombination at individual switch regions evidenced through Cre-loxP-mediated gene targeting.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {191}, number = {1}, pages = {7-16}, pmid = {23794701}, issn = {1550-6606}, mesh = {Animals ; Gene Targeting/*methods ; *Genes, Switch ; History, 20th Century ; Humans ; Immunoglobulin Class Switching/*genetics/physiology ; Integrases/*genetics/metabolism ; Mice ; Mice, Transgenic ; *Recombination, Genetic ; }, }
@article {pmid23706915, year = {2013}, author = {Gannett, L}, title = {Theodosius Dobzhansky and the genetic race concept.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {44}, number = {3}, pages = {250-261}, doi = {10.1016/j.shpsc.2013.04.009}, pmid = {23706915}, issn = {1879-2499}, mesh = {*Biological Evolution ; Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Humans ; Racial Groups/*genetics ; United States ; }, abstract = {The use of 'race' as a proxy for population structure in the genetic mapping of complex traits has provoked controversy about its legitimacy as a category for biomedical research, given its social and political connotations. The controversy has reignited debates among scientists and philosophers of science about whether there is a legitimate biological concept of race. This paper examines the genetic race concept as it developed historically in the work of Theodosius Dobzhansky from the 1930s to 1950s. Dobzhansky's definitions of race changed over this time from races as 'arrays of forms' or 'clusters' in 1933-1939, to races as genetically distinct geographical populations in 1940-1946, to races as genetically distinct 'Mendelian populations' in 1947-1955. Dobzhansky responded to nominalist challenges by appealing to the biological reality of race as a process. This response came into tension with the object ontology of race that was implied by Dobzhansky's increasingly holistic treatment of Mendelian populations, a tension, the paper argues, he failed to appreciate or resolve.}, }
@article {pmid23637008, year = {2013}, author = {Buiatti, M and Longo, G}, title = {Randomness and multilevel interactions in biology.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {132}, number = {3}, pages = {139-158}, pmid = {23637008}, issn = {1611-7530}, mesh = {Animals ; Biological Evolution ; Biophysics/methods ; Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Life ; Models, Theoretical ; Nonlinear Dynamics ; Quantum Theory ; *Systems Biology ; }, abstract = {The dynamic instability of living systems and the "superposition" of different forms of randomness are viewed, in this paper, as components of the contingently changing, or even increasing, organization of life through ontogenesis or evolution. To this purpose, we first survey how classical and quantum physics define randomness differently. We then discuss why this requires, in our view, an enriched understanding of the effects of their concurrent presence in biological systems' dynamics. Biological randomness is then presented not only as an essential component of the heterogeneous determination and intrinsic unpredictability proper to life phenomena, due to the nesting of, and interaction between many levels of organization, but also as a key component of its structural stability. We will note as well that increasing organization, while increasing "order", induces growing disorder, not only by energy dispersal effects, but also by increasing variability and differentiation. Finally, we discuss the cooperation between diverse components in biological networks; this cooperation implies the presence of constraints due to the particular nature of bio-entanglement and bio-resonance, two notions to be reviewed and defined in the paper.}, }
@article {pmid23599926, year = {2013}, author = {Walsh, PS and Metzger, DA and Higushi, R}, title = {Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 10(4): 506-13 (April 1991).}, journal = {BioTechniques}, volume = {54}, number = {3}, pages = {134-139}, doi = {10.2144/000114018}, pmid = {23599926}, issn = {1940-9818}, mesh = {Blood Stains ; Chelating Agents/*chemistry ; DNA/blood/*isolation &amp; purification ; Forensic Medicine/*methods ; Genotyping Techniques/*methods ; HLA-DQ alpha-Chains/genetics ; History, 20th Century ; Humans ; Male ; Polymerase Chain Reaction/*methods ; Resins, Synthetic/*chemistry ; Semen/chemistry ; }, }
@article {pmid23599925, year = {2013}, author = {Horton, RM and Cai, Z and Ho, SM and Pease, LR}, title = {Gene splicing by overlap extension: tailor-made genes using the polymerase chain reaction. BioTechniques 8(5):528-535 (November 1990).}, journal = {BioTechniques}, volume = {54}, number = {3}, pages = {129-133}, doi = {10.2144/000114017}, pmid = {23599925}, issn = {1940-9818}, mesh = {Animals ; Base Sequence ; Cloning, Molecular/methods ; DNA Primers/genetics ; DNA, Recombinant/*genetics ; *Genes, MHC Class I ; *Genes, MHC Class II ; History, 20th Century ; Mice ; Molecular Sequence Data ; Polymerase Chain Reaction/*methods ; }, }
@article {pmid23590114, year = {2013}, author = {Pósa, A and Maixner, F and Lovász, G and Molnár, E and Bereczki, Z and Perrin, P and Zink, A and Pálfi, G}, title = {Revision of tuberculous lesions in the Bácsalmás-Oalmás series--preliminary morphological and biomolecular studies.}, journal = {Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur}, volume = {70}, number = {1}, pages = {83-100}, doi = {10.1127/0003-5548/2012/0260}, pmid = {23590114}, issn = {0003-5548}, mesh = {Adult ; Bone and Bones/chemistry/*microbiology/*pathology ; Child ; DNA, Bacterial/analysis/isolation &amp; purification ; Female ; History, 16th Century ; History, 17th Century ; Humans ; Hungary ; Infant ; Male ; Molecular Typing ; Mycobacterium tuberculosis/genetics/*isolation &amp; purification ; Paleopathology ; Polymerase Chain Reaction ; Tuberculosis, Osteoarticular/*history/microbiology/pathology ; }, abstract = {Previous investigations carried out in some parts of the 16th-17th century AD series of Bácsalmás-Oalmás (southern Hungary) have already provided interesting paleopathological cases of tuberculosis (e.g. Molnár &amp; Pálfi 1994). These studies were essentially based on macromorphological analysis, biomolecular methods were used only in a few cases (e.g. Haas et al. 2000). From a macromorphological point of view, former investigations have only considered 'classical' tuberculosis (TB) alterations (advanced-stage lesions in common skeletal locations). However, due to the recent development of diagnostic criteria in the field of the paleopathology of infectious diseases, new approaches have been introduced in the identification of skeletal TB lesions (Pálfi et al. 1999, Maczel 2003). Molecular methods for the detection of mycobacterial aDNA have also been developed considerably in the last few years (e.g. Donoghue 2008, Donoghue 2011). The good state of preservation of the material, the important chronological period of the series and the relative high prevalence of TB reported in preliminary studies encouraged us to carry out a revision of TB-related lesions in the complete Bácsalmás-Oalmás series. A five year international research program--including both macroscopic and biomolecular studies of the series--was recently started. The present paper summarizes the results ofa pilot project conducted to optimize the further systematic paleopathological and paleomicrobial studies. Skeletal material of 205 individuals was chosen forthe macromorphological test-investigation, which was focused both on classical/advanced stage skeletal TB alterations (tuberculous spondylitis, tuberculous arthritis) and atypical/early-stage TB lesions (rib lesions, superficial vertebral changes, endocranial alterations, early-stage spondylodiscitis). In addition, the association of possible stress factors (long bone periostitis, cribra orbitalia, cribra cranii) were also considered. Paleomicrobiological analysis was used to study the presence of Mycobacterium tuberculosis ancient DNA (aDNA) in morphologically positive and negative cases. A comparative paleomicrobial analysis was carried out on different samples, to test the presence of MTB DNA in different skeletal regions.}, }
@article {pmid23583801, year = {2013}, author = {Carlson, EA}, title = {How fruit flies came to launch the chromosome theory of heredity.}, journal = {Mutation research}, volume = {753}, number = {1}, pages = {1-6}, doi = {10.1016/j.mrrev.2013.03.001}, pmid = {23583801}, issn = {0027-5107}, mesh = {Animals ; Chromosomes/*genetics ; Drosophila/*genetics/growth &amp; development ; *Heredity ; History, 19th Century ; History, 20th Century ; Portraits as Topic ; }, abstract = {Fruit flies were used by several laboratories between 1901 and 1910 for studies of experimental evolution at Harvard, Indiana University, and Cold Spring Harbor before Thomas Hunt Morgan found his white-eyed mutation that we associate with the beginnings of the fly lab at Columbia University. The major players prior to Morgan were William Castle and his students at Harvard University, Frank Lutz at Cold Spring Harbor, and Fernandus Payne whose ideas for working with fruit flies were shaped by his studies of blind cave fauna at Indiana University. Payne's interests were stimulated by the work of Carl Eigenmann, an authority on blind cave fauna, and William Moenkhaus, who introduced Payne to fruit flies at Indiana University before Payne moved to Columbia to pursue graduate work with Morgan and Edmund Wilson. The motivations of the laboratories differed in the theories used for their work. Castle spread the word about the utility of fruit flies for research, but Payne gave Morgan his first fruit flies for research leading to the discovery of the white-eye mutation.}, }
@article {pmid23579030, year = {2014}, author = {Marangoni, A and Caramelli, D and Manzi, G}, title = {Homo sapiens in the Americas. Overview of the earliest human expansion in the New World.}, journal = {Journal of anthropological sciences = Rivista di antropologia : JASS}, volume = {92}, number = {}, pages = {79-97}, doi = {10.4436/jass.91002}, pmid = {23579030}, issn = {2037-0644}, mesh = {Americas ; *Anthropology, Physical ; Archaeology ; *Biological Evolution ; History, Ancient ; Human Migration/*history ; Humans ; }, abstract = {Although it is widely recognised that America was the last continent to be populated by our species, researchers' views on various aspects of this process (e.g. the period in which it occurred, the area from which the colonizing populations came, the number of dispersal waves and the routes taken by these migrations) differ significantly. In this paper, we review both classical data and more recent findings from various research fields - including geology, paleoecology, archaeology, skeletal biology, and genetics - that may shed light on the dynamics of the colonization of the American continent, according to a critical reappraisal of the various hypotheses and models that have been advanced over time to explain this process.}, }
@article {pmid23553484, year = {2013}, author = {Bharucha-Goebel, DX and Santi, M and Medne, L and Zukosky, K and Dastgir, J and Shieh, PB and Winder, T and Tennekoon, G and Finkel, RS and Dowling, JJ and Monnier, N and Bönnemann, CG}, title = {Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.}, journal = {Neurology}, volume = {80}, number = {17}, pages = {1584-1589}, pmid = {23553484}, issn = {1526-632X}, support = {T32 AR056993/AR/NIAMS NIH HHS/United States ; }, mesh = {Abnormalities, Multiple/genetics/pathology/physiopathology ; Child, Preschool ; Female ; History, Ancient ; Humans ; Infant, Newborn ; Male ; Mutation ; Myopathy, Central Core/*genetics/*pathology/*physiopathology ; Ryanodine Receptor Calcium Release Channel/*genetics ; }, abstract = {OBJECTIVE: To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene-related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients.<br><br>METHODS: Eleven patients evaluated in the neonatal period with severe neonatal-onset RYR1-associated myopathy confirmed by genetic testing were ascertained. Clinical features, molecular testing results, muscle imaging, and muscle histology are reviewed.<br><br>RESULTS: Clinical features associated with the severe neonatal presentation of RYR1-associated myopathy included decreased fetal movement, hypotonia, poor feeding, respiratory involvement, arthrogryposis, and ophthalmoplegia in 3 patients, and femur fractures or hip dislocation at birth. Four patients had dominant RYR1 mutations, and 7 had recessive RYR1 mutations. One patient had a cleft palate, and another a congenital rigid spine phenotype-findings not previously described in the literature in patients with early-onset RYR1 mutations. Six patients who underwent muscle ultrasound showed relative sparing of the rectus femoris muscle. Histologically, all patients with dominant mutations had classic central cores on muscle biopsy. Patients with recessive mutations showed great histologic heterogeneity, including fibrosis, variation in fiber size, skewed fiber typing, very small fibers, and nuclear internalization with or without ill-defined cores.<br><br>CONCLUSIONS: This series confirms and expands the clinical and histologic variability associated with severe congenital RYR1-associated myopathy. Both dominant and recessive mutations of the RYR1 gene can result in a severe neonatal-onset phenotype, but more clinical and histologic heterogeneity has been seen in those with recessive RYR1 gene mutations. Central cores are not obligatory histologic features in recessive RYR1 mutations. Sparing of the rectus femoris muscle on imaging should prompt evaluation for RYR1-associated myopathy in the appropriate clinical context.}, }
@article {pmid23526828, year = {2013}, author = {Lafaille, JJ and Nagashima, K and Katsuki, M and Tonegawa, S}, title = {Pillars article: High incidence of spontaneous autoimmune encephalomyelitis in immunodeficient anti-myelin basic protein T cell receptor transgenic mice. Cell. 1994. 78: 399-408.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {190}, number = {7}, pages = {3028-3037}, pmid = {23526828}, issn = {1550-6606}, mesh = {Animals ; Encephalomyelitis, Autoimmune, Experimental/genetics/*history/immunology ; History, 20th Century ; Incidence ; Mice ; Mice, Transgenic ; Myelin Basic Protein/*history/immunology ; Receptors, Antigen, T-Cell/genetics/*history/immunology ; }, }
@article {pmid23526827, year = {2013}, author = {Goverman, J and Woods, A and Larson, L and Weiner, LP and Hood, L and Zaller, DM}, title = {Pillars article: Transgenic mice that express a myelin basic protein-specific T cell receptor develop spontaneous autoimmunity. Cell. 1993. 72: 551-560.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {190}, number = {7}, pages = {3018-3027}, pmid = {23526827}, issn = {1550-6606}, mesh = {Animals ; Autoimmunity/*genetics ; Encephalomyelitis, Autoimmune, Experimental/genetics/history/immunology ; History, 20th Century ; Mice ; Mice, Transgenic ; Myelin Basic Protein/*history/immunology ; Receptors, Antigen, T-Cell/genetics/*history/immunology ; }, }
@article {pmid23526347, year = {2012}, author = {Sokal, RR and Oden, NL and Thomson, BA}, title = {A problem with synthetic maps. 1999.}, journal = {Human biology}, volume = {84}, number = {5}, pages = {609-621}, doi = {10.3378/027.084.0511}, pmid = {23526347}, issn = {1534-6617}, mesh = {Algorithms ; Europe ; *Gene Frequency ; *Genetics, Population ; History, 20th Century ; Humans ; *Population Dynamics ; Principal Component Analysis ; White People/*genetics ; }, }
@article {pmid23526345, year = {2012}, author = {Sokal, RR and Oden, NL and Walker, J and Di Giovanni, D and Thomson, BA}, title = {Historical population movements in Europe influence genetic relationships in modern samples. 1996.}, journal = {Human biology}, volume = {84}, number = {5}, pages = {581-606}, doi = {10.3378/027.084.0509}, pmid = {23526345}, issn = {1534-6617}, mesh = {Europe ; *Gene Frequency ; *Genetics, Population ; History, 20th Century ; Humans ; Language ; *Population Dynamics ; White People/*genetics ; }, }
@article {pmid23526343, year = {2012}, author = {Chen, J and Sokal, RR and Ruhlen, M}, title = {Worldwide analysis of genetic and linguistic relationships of human populations. 1995.}, journal = {Human biology}, volume = {84}, number = {5}, pages = {555-572}, doi = {10.3378/027.084.0506}, pmid = {23526343}, issn = {1534-6617}, mesh = {*Genetics, Population ; History, 20th Century ; Humans ; *Linguistics ; *Population Dynamics ; }, }
@article {pmid23526342, year = {2012}, author = {Sokal, RR}, title = {Ancient movement patterns determine modern genetic variances in Europe. 1991.}, journal = {Human biology}, volume = {84}, number = {5}, pages = {535-552}, doi = {10.3378/027.084.0504}, pmid = {23526342}, issn = {1534-6617}, mesh = {Europe ; Gene Flow ; *Genetic Variation ; *Genetics, Population ; History, 20th Century ; Humans ; *Population Dynamics ; *White People ; }, }
@article {pmid23526340, year = {2012}, author = {Derish, PA and Sokal, RR}, title = {A classification of European populations based on gene frequencies and cranial measurements: a map-quadrat approach. 1988.}, journal = {Human biology}, volume = {84}, number = {5}, pages = {507-530}, doi = {10.3378/027.084.0503}, pmid = {23526340}, issn = {1534-6617}, mesh = {Classification ; *Gene Frequency ; Genetics, Population ; History, 20th Century ; Humans ; Phenotype ; Skull/*anatomy &amp; histology ; White People/*genetics ; }, }
@article {pmid23408008, year = {2013}, author = {Esposito, M}, title = {Heredity, development and evolution: the unmodern synthesis of E.S. Russell.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {132}, number = {3}, pages = {165-180}, pmid = {23408008}, issn = {1611-7530}, mesh = {Animals ; *Biological Evolution ; Developmental Biology/*history ; Europe ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; Humans ; Selection, Genetic ; }, abstract = {In 1930, while R.A. Fisher, J.B.S. Haldane, E.B. Ford and S.G. Wright were laying the foundations of what a decade later J.S. Huxley dubbed "Modern Synthesis", E.S. Russell published a groundbreaking work, The Interpretation of Development and Heredity. In this book Russell not only condemned Mendelian genetics and neo-Darwinism, but also proposed an alternative synthesis unifying heredity, development, and evolution. The book did not represent the work of a mind operating in isolation. Rather, it was a synthetic work connecting ideas and doctrines of many influential scientists working in Europe and the USA. Through the analysis of archival documents and rarely or never mentioned sources, this article provides an unconventional picture of Russell's theoretical biology. It will be shown that Russell was an international celebrity; he was at the centre of a large network of scholars who shared his ideas and insights. He was one of several biologists arguing for a different synthesis; a synthesis perhaps less visible, less institutionalised, and less 'modern', nevertheless with its influential advocates and international support. Finally, this study shows that Russell's synthesis was not rooted in the classic pantheon of towering figures in the history of biology, i.e. Darwin, Wallace, and Mendel, but was based on the teachings of Kant, Goethe, Cuvier, von Baer, and Müller.}, }
@article {pmid23296302, year = {2013}, author = {Poxton, IR}, title = {The changing faces of Clostridium difficile: a personal reflection of the past 34 years.}, journal = {Anaerobe}, volume = {24}, number = {}, pages = {124-127}, doi = {10.1016/j.anaerobe.2012.12.006}, pmid = {23296302}, issn = {1095-8274}, mesh = {Anti-Bacterial Agents/therapeutic use ; Biomedical Research/history ; Clostridioides difficile/drug effects/genetics/*isolation &amp; purification ; Clostridium Infections/*epidemiology/history/*microbiology ; Europe ; Evolution, Molecular ; Genetic Variation ; History, 20th Century ; History, 21st Century ; Humans ; Microbiology/*history ; Molecular Epidemiology ; }, abstract = {Late in 1978 my boss gave me a folder with "Clostridium difficile (diffikilé)" written on it. Inside were a few recent and now classic papers by Bartlett, Larson and co. It was suggested that this might be an interesting research topic. So began a continuing adventure which has resulted in at least 50 publications from my group. Over the years we have made several important contributions to the field. Beginning in 1982 we showed that C. difficile was a common cause of community-acquired infection! During the next few years we did extensive structural studies on the bacterium. This culminated in 1984 with a fingerprinting study (by immunoblotting surface antigens), on Swedish strains supplied by Carl-Erik Nord, which was probably the first study to demonstrate that C. difficile was really an infectious agent. This was later reinforced with strains sent from Amsterdam by Ed Kuijper. Later in the 1980s, in a study of recurrent disease, we showed that ca. 50% of recurrences were due to infection with a different strain. During my term as chair of the European Study Group for C. difficile, we began to define the status of C. difficile infection (CDI) in Europe and develop guidance for diagnosis and treatment. Recently we utilised our extensive culture collection, with isolates from the 1970s to the present, to observe how epidemiology has been driven largely by antibiotic usage. We have now come full circle: in the early years C. difficile infection was caused by many different strains. Then in the period beginning in the 1990s, characterised by often-large outbreaks and poor infection control, disease was caused by a few endemic strains highlighted by the 027/NAP1/BI pandemic. Now in a much-improved local situation, we are seeing again that the majority of cases (largely sporadic) is caused by multiple types. Current studies range from molecular studies on toxin and spore production, immune responses, novel observations on CDI in children, to what is the best way of decontaminating the anaerobe laboratory.}, }
@article {pmid24783673, year = {2013}, author = {van der Hout, S}, title = {Bridging the lab-field divide? The "eco" in ecological genomics.}, journal = {History and philosophy of the life sciences}, volume = {35}, number = {4}, pages = {577-598}, pmid = {24783673}, issn = {0391-9714}, mesh = {Ecology/*history/methods ; Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Metagenome ; }, abstract = {The emerging field of ecological genomics promises to bring about a marriage between ecological and laboratory-based, genomic investigations. In this paper, I will reflect on this promise by exploring how ecology and genomics are integrated in the two approaches that currently dominate this field: the organism-centred approach, focusing on individual (model) organisms, and the metagenomic approach, concentrating on (the metagenome of) entire microbial communities composed of a variety of species. I will show that both approaches have already taken some important steps in bridging the gap between genomics and ecology. Since the introduction of next-generation sequencing methodology in 2007, the organism-centred approach does not need to stick to classical model organisms like Arabidopsis anymore. Instead, it is now able to apply genomic tools to ecologically interesting species (e.g. amphibians, reptiles, birds) as well. The metagenomic approach has been able to give ecology a more prominent place in its investigations, in another way. Contrary to classical microbiology (the field from which it originates), it does not study microbial communities under controlled laboratory settings, but under nature's own conditions. However, in the marriage between genomics and ecology, genomics still appears to be the dominant partner, especially in the case of the organism-centred approach that continues to study the new ecological models in artificial lab environments. Moreover, the organism-centred and metagenomic approaches employ a gene-centred perspective in understanding critical ecological interactions, thus strengthening a reductionist rather than a holistic (systems-oriented) approach.}, }
@article {pmid23226471, year = {2012}, author = {Beleza, S and Campos, J and Lopes, J and Araújo, II and Hoppfer Almada, A and Correia e Silva, A and Parra, EJ and Rocha, J}, title = {The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.}, journal = {PloS one}, volume = {7}, number = {11}, pages = {e51103}, pmid = {23226471}, issn = {1932-6203}, mesh = {Cabo Verde ; Chromosomes, Human, Y/genetics ; Female ; *Gene Pool ; Genealogy and Heraldry ; *Genetic Variation ; Genetics, Population ; Geography ; Haplotypes/genetics ; Humans ; *Islands ; Male ; Microsatellite Repeats/genetics ; Phylogeny ; Regression Analysis ; Skin Pigmentation/genetics ; }, abstract = {Recently admixed populations offer unique opportunities for studying human history and for elucidating the genetic basis of complex traits that differ in prevalence between human populations. Historical records, classical protein markers, and preliminary genetic data indicate that the Cape Verde islands in West Africa are highly admixed and primarily descended from European males and African females. However, little is known about the variation in admixture levels, admixture dynamics and genetic diversity across the islands, or about the potential of Cape Verde for admixture mapping studies. We have performed a detailed analysis of phenotypic and genetic variation in Cape Verde based on objective skin color measurements, socio-economic status (SES) evaluations and data for 50 autosomal, 34 X-chromosome, and 21 non-recombinant Y-chromosome (NRY) markers in 845 individuals from six islands of the archipelago. We find extensive genetic admixture between European and African ancestral populations (mean West African ancestry = 0.57, sd = 0.08), with individual African ancestry proportions varying considerably among the islands. African ancestry proportions calculated with X and Y-chromosome markers confirm that the pattern of admixture has been sex-biased. The high-resolution NRY-STRs reveal additional patterns of variation among the islands that are most consistent with differentiation after admixture. The differences in the autosomal admixture proportions are clearly evident in the skin color distribution across the islands (Pearson r = 0.54, P-value<2e-16). Despite this strong correlation, there are significant interactions between SES and skin color that are independent of the relationship between skin color and genetic ancestry. The observed distributions of admixture, genetic variation and skin color and the relationship of skin color with SES relate to historical and social events taking place during the settlement history of Cape Verde, and have implications for the design of association studies using this population.}, }
@article {pmid23218800, year = {2013}, author = {Kirsh, N}, title = {Tragedy or success? Elisabeth Goldschmidt (1912-1970) and genetics in Israel.}, journal = {Endeavour}, volume = {37}, number = {2}, pages = {112-120}, doi = {10.1016/j.endeavour.2012.10.001}, pmid = {23218800}, issn = {1873-1929}, mesh = {Career Choice ; Faculty/*history ; Female ; Genetic Research/*history ; History, 20th Century ; Humans ; Israel ; Medical Laboratory Personnel/history ; Research Personnel/*history ; Women, Working/*history ; }, abstract = {This article introduces the reader to the life and work of Elisabeth Goldschmidt, the founding mother of the field of genetics in Israel. It concurrently strives to uncover the roots and development of genetics in Israel, tracing the crucial transition from classical Drosophila genetics to human genetics and the shift from a Germanic tradition of scientific research to an American one. Goldschmidt's personal biography is inextricably linked to the early stages of genetic research in Israel. The narrative of her life could have been a heroic and inspiring account of a female scientist who 'had it all', had its end been less tragic. Nevertheless, her life was rich, including a path of achievement and trail-blazing coupled with the joy and satisfaction she gleaned from her scientific work.}, }
@article {pmid23212897, year = {2012}, author = {Artzt, K}, title = {Mammalian developmental genetics in the twentieth century.}, journal = {Genetics}, volume = {192}, number = {4}, pages = {1151-1163}, pmid = {23212897}, issn = {1943-2631}, mesh = {Animals ; Cloning, Molecular ; Drosophila/genetics ; Genetics/*history ; Growth and Development/*genetics ; History, 20th Century ; Mammals/*genetics/growth &amp; development ; Mice ; Mice, Knockout ; Mutation ; X Chromosome Inactivation ; }, abstract = {This Perspectives is a review of the breathtaking history of mammalian genetics in the past century and, in particular, of the ways in which genetic thinking has illuminated aspects of mouse development. To illustrate the power of that thinking, selected hypothesis-driven experiments and technical advances are discussed. Also included in this account are the beginnings of mouse genetics at the Bussey Institute, Columbia University, and The Jackson Laboratory and a retrospective discussion of one of the classic problems in developmental genetics, the T/t complex and its genetic enigmas.}, }
@article {pmid23169862, year = {2012}, author = {Watanabe-Fukunaga, R and Brannan, CI and Copeland, NG and Jenkins, NA and Nagata, S}, title = {Pillars article: lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. 1992.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {189}, number = {11}, pages = {5101-5104}, pmid = {23169862}, issn = {1550-6606}, mesh = {Animals ; Apoptosis ; History, 20th Century ; Lupus Erythematosus, Systemic/*history/immunology ; Lymphatic Diseases/*history/immunology ; Lymphoproliferative Disorders/*history/immunology ; Mice ; Mutation ; fas Receptor/genetics/*history/immunology ; }, }
@article {pmid23150590, year = {2012}, author = {Fedoroff, NV}, title = {McClintock's challenge in the 21st century.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {109}, number = {50}, pages = {20200-20203}, pmid = {23150590}, issn = {1091-6490}, mesh = {Chromosome Breakage ; Chromosomes, Plant/genetics ; DNA Transposable Elements/genetics ; Epigenesis, Genetic ; Genome, Plant ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/trends ; Phenotype ; Zea mays/genetics ; }, abstract = {In 1950, Barbara McClintock published a Classic PNAS article, "The origin and behavior of mutable loci in maize," which summarized the evidence leading to her discovery of transposition. The article described a number of genome alterations revealed through her studies of the Dissociation locus, the first mobile genetic element she identified. McClintock described the suite of nuclear events, including transposon activation and various chromosome aberrations and rearrangements, that unfolded in the wake of genetic crosses that brought together two broken chromosomes 9. McClintock left future generations with the challenge of understanding how genomes respond to genetic and environmental stresses by mounting adaptive responses that frequently include genome restructuring.}, }
@article {pmid23042362, year = {2012}, author = {Maniatis, T}, title = {On the road from classical to modern molecular biology.}, journal = {Nature medicine}, volume = {18}, number = {10}, pages = {1499-1502}, pmid = {23042362}, issn = {1546-170X}, mesh = {Awards and Prizes ; *Cloning, Molecular ; DNA, Complementary ; Genomic Library ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Sequence Analysis, DNA ; United States ; }, }
@article {pmid22925674, year = {2012}, author = {Arita, Y and Kihara, S and Ouchi, N and Takahashi, M and Maeda, K and Miyagawa, J and Hotta, K and Shimomura, I and Nakamura, T and Miyaoka, K and Kuriyama, H and Nishida, M and Yamashita, S and Okubo, K and Matsubara, K and Muraguchi, M and Ohmoto, Y and Funahashi, T and Matsuzawa, Y}, title = {Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. 1999.}, journal = {Biochemical and biophysical research communications}, volume = {425}, number = {3}, pages = {560-564}, doi = {10.1016/j.bbrc.2012.08.024}, pmid = {22925674}, issn = {1090-2104}, mesh = {Adiponectin/blood/genetics/*history ; Adipose Tissue/*metabolism ; Adult ; Enzyme-Linked Immunosorbent Assay/history ; History, 20th Century ; Humans ; Male ; Middle Aged ; Obesity/blood/genetics/*history ; Transcription, Genetic ; }, }
@article {pmid22925673, year = {2012}, author = {Maeda, K and Okubo, K and Shimomura, I and Funahashi, T and Matsuzawa, Y and Matsubara, K}, title = {cDNA cloning and expression of a novel adipose specific collagen-like factor, apM1 (adipose most abundant gene transcript 1). 1996.}, journal = {Biochemical and biophysical research communications}, volume = {425}, number = {3}, pages = {556-559}, doi = {10.1016/j.bbrc.2012.08.023}, pmid = {22925673}, issn = {1090-2104}, mesh = {Adiponectin/genetics/*history ; Adipose Tissue/*metabolism ; Amino Acid Sequence ; Cloning, Molecular ; DNA, Complementary/genetics/*history ; Female ; History, 20th Century ; Humans ; Molecular Sequence Data ; Transcription, Genetic ; }, }
@article {pmid22908364, year = {2012}, author = {Moore, KW and Vieira, P and Fiorentino, DF and Trounstine, ML and Khan, TA and Mosmann, TR}, title = {Pillars article: homology of cytokine synthesis inhibitory factor (IL-10) to the Epstein-Barr virus gene BCRFI. Science. 1990. 248: 1230-1234.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {189}, number = {5}, pages = {2072-2076}, pmid = {22908364}, issn = {1550-6606}, mesh = {Amino Acid Sequence ; Animals ; Herpesvirus 4, Human/*genetics/immunology ; History, 20th Century ; Humans ; Interleukin-10/chemistry/*history ; Mice ; Molecular Sequence Data ; Structural Homology, Protein ; Viral Proteins/genetics/*history ; }, }
@article {pmid22900560, year = {2012}, author = {Bleger, J}, title = {Theory and practice in psychoanalysis: psychoanalytic praxis. 1969.}, journal = {The International journal of psycho-analysis}, volume = {93}, number = {4}, pages = {993-1003}, doi = {10.1111/j.1745-8315.2012.00593.x}, pmid = {22900560}, issn = {1745-8315}, mesh = {Argentina ; History, 20th Century ; Humans ; Psychoanalysis/*history ; *Psychoanalytic Theory ; Psychoanalytic Therapy/*methods ; }, abstract = {The author systematises and examines the relation between theory and practice in psychoanalysis in three directions: one, eminently epistemological, which is only mentioned because it pertains not only to psychoanalysis but to all the sciences; another, the relation between theory and technique; and the third, the relation between theory and the institutional organisation of psychoanalysis and psychoanalysts. All the problems described, especially the second and third points, together define psychoanalytic praxis. With regard to contradictions between theory and technique, the author points out that psychoanalytic theory is constructed fundamentally on the basis of an approach that is historico-genetic, dynamic and consistent with formal logic, whereas psychoanalytic practice occurs within a transference–countertransference relation, in a situation configured as an analytic field, a ‘here and now’, within a dramatic explanation and in a dialectic process. This triple diagnosis involves naturalistic and phenomenological approaches, the problem of objectivity and the role given to sexuality as a privileged parameter in psychoanalytic theory. In relation to the third direction mentioned above,the author refers briefly to the problem of psychoanalytic organisations, in the sense that they come into conflict with the development of psychoanalytic theory and the deepening of investigation. In reference to the latter, the author emphasises the need to widen the perspective of what constitutes psychoanalytic praxis. He points out that praxis is always replete with contradictions and that it is not a question of ignoring,denying or impeding these contradictions themselves (which would in any case be totally ineffective), but that by taking them into account, scientific development could be managed in a more planned way, less blindly; that is to say, less abandoned to spontaneity.}, }
@article {pmid22889076, year = {2012}, author = {Meyer, RS and DuVal, AE and Jensen, HR}, title = {Patterns and processes in crop domestication: an historical review and quantitative analysis of 203 global food crops.}, journal = {The New phytologist}, volume = {196}, number = {1}, pages = {29-48}, doi = {10.1111/j.1469-8137.2012.04253.x}, pmid = {22889076}, issn = {1469-8137}, mesh = {Crops, Agricultural/genetics/*growth &amp; development/*history ; *Food ; History, Ancient ; Ploidies ; Reproduction ; Time Factors ; }, abstract = {Domesticated food crops are derived from a phylogenetically diverse assemblage of wild ancestors through artificial selection for different traits. Our understanding of domestication, however, is based upon a subset of well-studied 'model' crops, many of them from the Poaceae family. Here, we investigate domestication traits and theories using a broader range of crops. We reviewed domestication information (e.g. center of domestication, plant traits, wild ancestors, domestication dates, domestication traits, early and current uses) for 203 major and minor food crops. Compiled data were used to test classic and contemporary theories in crop domestication. Many typical features of domestication associated with model crops, including changes in ploidy level, loss of shattering, multiple origins, and domestication outside the native range, are less common within this broader dataset. In addition, there are strong spatial and temporal trends in our dataset. The overall time required to domesticate a species has decreased since the earliest domestication events. The frequencies of some domestication syndrome traits (e.g. nonshattering) have decreased over time, while others (e.g. changes to secondary metabolites) have increased. We discuss the influences of the ecological, evolutionary, cultural and technological factors that make domestication a dynamic and ongoing process.}, }
@article {pmid22855371, year = {2012}, author = {Simunek, M and Hoßfeld, U and Breidbach, O}, title = {'Further Development' of Mendel's legacy? Erich von Tschermak-Seysenegg in the context of Mendelian-biometry controversy, 1901-1906.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {131}, number = {4}, pages = {243-252}, pmid = {22855371}, issn = {1611-7530}, mesh = {Biometry ; England ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; }, abstract = {The contribution of Erich von Tschermak-Seysenegg (1871-1962) to the beginning of classical genetics is a matter of dispute. The aim of this study is to analyse, based on newly accessible archive materials, the relevance of his positions and theoretical views in a debate between advocates of early Mendelian explanation of heredity and proponents of biometry, which took place in England around 1901-1906. We challenge not only his role of an 'external consultant', which at the time de facto confirmed his status of 'rediscoverer' of Mendel's work but also analyse his ambivalent positions which are to be seen as a part of 'further development' (Weiterführung), a development of Mendel's legacy as he understood it. Second, there is an interesting aspect of establishing connections within an 'experimental culture' along the Mendel's lines of thought that was parallel to the first step of institutionalizing the new discipline of Genetics after 1905/06. Part of the study is also the analysis of contribution of his older brother Armin von Tschermak-Seysenegg (1870-1952) who--much like in the case of 'rediscovery' of 1900-1901--was for his younger brother an important source of theoretical knowledge. In this particular case, it regarded Bateson's 'Defence' of Mendel from 1902.}, }
@article {pmid22835605, year = {2012}, author = {Liu, J and Wang, LN and Tian, JZ}, title = {Recognition of dementia in ancient China.}, journal = {Neurobiology of aging}, volume = {33}, number = {12}, pages = {2948.e11-3}, doi = {10.1016/j.neurobiolaging.2012.06.019}, pmid = {22835605}, issn = {1558-1497}, mesh = {Asian People/genetics/history ; *Dementia/history/physiopathology/therapy ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; *Medicine, Chinese Traditional/history/methods ; Qi/history ; }, abstract = {A search of previous records in the literatures was done to summarize the opinions for dementia in ancient China. The earliest description of dementia was traced in the Yellow emperor's internal classic, a book written 2000 years ago. Hua Tuo (AD 140-208) in Han Dynasty first denominated "dementia" in the book, Hua Tuo Shen Yi Mi Zhuan. The pathogenesis of dementia could be generalized as the insufficiency of Qi, a flowing energy; the stagnation of phlegm, a harmful liquid substance in the body; and the blood stasis, which were also regarded as therapeutic targets. Therefore, we can conclude that dementia has been recognized and investigated in traditional Chinese medicine, which is definitely before the industrial civilization era.}, }
@article {pmid22726356, year = {2012}, author = {Rehfeld, JF}, title = {Beginnings: a reflection on the history of gastrointestinal endocrinology.}, journal = {Regulatory peptides}, volume = {177 Suppl}, number = {}, pages = {S1-5}, doi = {10.1016/j.regpep.2012.05.087}, pmid = {22726356}, issn = {1873-1686}, mesh = {Animals ; Cell Membrane/chemistry ; Drug Therapy/methods ; Endocrine Glands/chemistry/metabolism ; Endocrinology/history ; Gastrointestinal Hormones/*chemistry/classification/genetics/metabolism ; Gastrointestinal Tract/chemistry/*metabolism ; Genes, Regulator ; History, 20th Century ; History, 21st Century ; Humans ; Neuroendocrine Tumors/chemistry/therapy ; Peptide Hormones/*chemistry/classification/genetics/metabolism ; Phylogeny ; Radioimmunoassay ; }, abstract = {The gut is the largest endocrine organ in the body. Gut hormones share some characteristics: Their structure groups hormones into families, each of which originate from a single gene. A hormone gene is often expressed in multiple peptides due to tandem genes, alternative splicing or differentiated posttranslational processing. By these mechanisms, more than 100 different hormonally active peptides are produced in the gastrointestinal tract. In addition, gut hormones are widely expressed outside the gut. The different cell types often express different products of the same gene and release the peptides in different ways. Consequently, the same peptide may act as a hormone, a local growth factor, or a neurotransmitter. This new biology suggests that gastrointestinal hormones should be conceived as intercellular messengers of major general impact. The following short review is a vignette on steps in the history of gastrointestinal endocrinology from classic studies of digestive juice secretion over peptide chemistry, immunochemistry, and molecular genetics to modern receptor pharmacology and drug development. From shadowy beginnings, gastrointestinal endocrinology has emerged as a central discipline in the understanding of multicellular life and its diseases.}, }
@article {pmid22759929, year = {2012}, author = {Reich, W}, title = {The schizophrenia spectrum: a genetic concept. 1976.}, journal = {The Journal of nervous and mental disease}, volume = {200}, number = {7}, pages = {554-563}, doi = {10.1097/NMD.0b013e3182532326}, pmid = {22759929}, issn = {1539-736X}, mesh = {History, 20th Century ; Humans ; Schizophrenia/etiology/genetics/*history ; }, }
@article {pmid22701051, year = {2012}, author = {Janssens, FA and Koszul, R and Zickler, D}, title = {The chiasmatype theory. A new interpretation of the maturation divisions. 1909.}, journal = {Genetics}, volume = {191}, number = {2}, pages = {319-346}, doi = {10.1534/genetics.112.139725}, pmid = {22701051}, issn = {1943-2631}, mesh = {Genetics/history ; History, 20th Century ; Humans ; }, abstract = {First published in 1909 in La Cellule, F. A. Janssens’s “The chiasmatype theory. A new interpretation of the maturation divisions” proved controversial and was for several decades resisted by many geneticists and cytologists. In this month’s Perspectives, Koszul et al. revisit Janssens's findings and the surrounding controversies. Here, translated for the first time in English, GENETICS republishes the original Janssens’s article. The article is presented as closely as possible to the original publication’s format and style. GENETICS wishes to thank Romain Koszul and Denise Zickler for their labors in presenting the scientific community with this new translation.}, }
@article {pmid22701050, year = {2012}, author = {Koszul, R and Meselson, M and Van Doninck, K and Vandenhaute, J and Zickler, D}, title = {The centenary of Janssens's chiasmatype theory.}, journal = {Genetics}, volume = {191}, number = {2}, pages = {309-317}, pmid = {22701050}, issn = {1943-2631}, mesh = {Belgium ; Cell Biology/history ; *Chromosomes ; Genetics/history ; History, 20th Century ; Meiosis/*genetics ; }, abstract = {The segregation and random assortment of characters observed by Mendel have their basis in the behavior of chromosomes in meiosis. But showing this actually to be the case requires a correct understanding of the meiotic behavior of chromosomes. This was achieved only gradually, over several decades, with much dispute and confusion along the way. One crucial step in the understanding of meiosis was provided in 1909 by Frans Alfons Janssens who published in La Cellule an article entitled "La théorie de la Chiasmatypie. Nouvelle interprétation des cinèses de maturation," which contains the first description of the chiasma structure. He observed that, of the four chromatids present at the connection sites (chiasmata sites) at diplotene or anaphase of the first meiotic division, two crossed each other and two did not. He therefore postulated that the maternal and paternal chromatids that crossed penetrated the other until they broke and rejoined in maternal and paternal segments new ways; the other two chromatids remained free and thus intact. This allowed him also to propose that the chromatids distributed in the four nuclei issued from the second meiotic division had various combinations of maternal and paternal segments of each chromosome. And conversely, permitted the appreciation that the laws of Mendelian segregation required breakage and joining (crossing over) between homologous non-sister chromatids. Although Janssens's article found a broad appreciative audience and had a large influence on the chromosomal theory at that time, his theory was resisted by both geneticists and cytologists for several decades. This Perspectives aims to highlight the novelty of Janssens's chiasmatype theory by examining the historical background and our actual understanding of meiotic recombination.}, }
@article {pmid22674524, year = {2012}, author = {Wahlsten, D}, title = {The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human.}, journal = {Developmental psychobiology}, volume = {54}, number = {5}, pages = {475-492}, doi = {10.1002/dev.21043}, pmid = {22674524}, issn = {1098-2302}, mesh = {Animals ; Autistic Disorder/*genetics ; *Disease Models, Animal ; *Genetics, Behavioral/history ; Genome-Wide Association Study ; History, 20th Century ; Humans ; Intelligence/*genetics ; Mental Disorders/diagnosis/*genetics ; Mice ; Mice, Inbred Strains/genetics ; Mice, Transgenic/genetics ; Multifactorial Inheritance/*genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Schizophrenia/*genetics ; }, abstract = {The field of behavioral genetics was reviewed in the classic 1960 text by Fuller and Thompson. Since then, there has been remarkable progress in the genetic analysis of animal behavior. Many molecular genetic methods in common use today were not even anticipated in 1960. Animal models for many human psychiatric disorders have been discovered or created. In human behavior genetics, however, powerful new methods have failed to reveal even one bona fide, replicable gene effect pertinent to the normal range of variation in intelligence and personality. There is no explanatory or predictive value in that genetic information. For several psychiatric disorders, including autism and schizophrenia, many large genetic effects arise from de novo mutations. Genetically, the disorders are heterogeneous; different cases with the same diagnosis have different causes. The promises of the molecular genetic revolution have not been fulfilled in behavioral domains of most interest to human psychology.}, }
@article {pmid22611248, year = {2012}, author = {Lemaitre, B and Nicolas, E and Michaut, L and Reichhart, JM and Hoffmann, JA}, title = {Pillars article: the dorsoventral regulatory gene cassette spätzle/Toll/cactus controls the potent antifungal response in Drosophila adults. Cell. 1996. 86: 973-983.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {188}, number = {11}, pages = {5210-5220}, pmid = {22611248}, issn = {1550-6606}, mesh = {Animals ; Antifungal Agents/*metabolism ; DNA-Binding Proteins/*physiology ; Drosophila Proteins/*physiology ; Drosophila melanogaster/growth &amp; development/*immunology/metabolism ; Gene Expression Regulation, Developmental/*immunology ; History, 20th Century ; Multigene Family/genetics ; Mycoses/*immunology/metabolism/*prevention &amp; control ; Phosphoproteins/*physiology ; Toll-Like Receptors/*physiology ; }, abstract = {The cytokine-induced activation cascade of NF-kappaB in mammals and the activation of the morphogen dorsal in Drosophila embryos show striking structural and functional similarities (Toll/IL-1, Cactus/I-kappaB, and dorsal/NF-kappaB). Here we demonstrate that these parallels extend to the immune response of Drosophila. In particular, the intracellular components of the dorsoventral signaling pathway (except for dorsal) and the extracellular Toll ligand, spätzle regulatory gene cassette, control expression of the antifungal peptide gene drosomycin in adults. We also show that mutations in the Toll signaling pathway dramatically reduce survival after fungal infection. Antibacterial genes are induced either by a distinct pathway involving the immune deficiency gene (imd) or by combined activation of both imd and dorsoventral pathways.}, }
@article {pmid22542690, year = {2012}, author = {Duchesneau, F}, title = {Determinism and probability in the development of the cell theory.}, journal = {Progress in biophysics and molecular biology}, volume = {110}, number = {1}, pages = {34-40}, doi = {10.1016/j.pbiomolbio.2012.04.001}, pmid = {22542690}, issn = {1873-1732}, mesh = {Cell Biology/*history ; Cells/*cytology/metabolism ; Genetics ; History, 19th Century ; History, 20th Century ; Probability ; }, abstract = {A return to Claude Bernard's original use of the concept of 'determinism' displays the fact that natural laws were presumed to rule over all natural processes. In a more restricted sense, the term boiled down to a mere presupposition of constant determinant causes for those processes, leaving aside any particular ontological principle, even stochastic. The history of the cell theory until around 1900 was dominated by a twofold conception of determinant causes. Along a reductionist trend, cells' structures and processes were supposed to be accounted for through their analysis into detailed partial mechanisms. But a more holistic approach tended to subsume those analytic means and the mechanism involved under a program of global functional determinations. When mitotic and meiotic sequences in nuclear replication were being unveiled and that neo-Mendelian genetics was being grafted onto cytology and embryology, a conception of strict determinism at the nuclear level, principally represented by Wilhelm Roux and August Weismann, would seem to rule unilaterally over the mosaic interpretation of the cleavage of blastomeres. But, as shown by E.B. Wilson, in developmental processes there occur contingent outcomes of cell division which observations and experiments reveal. This induces the need to admit 'epigenetic' determinants and relativize the presumed 'preformation' of thedevelopmental phases by making room for an emergent order which the accidental circumstances of gene replication would trigger on.}, }
@article {pmid22445060, year = {2012}, author = {Bonduriansky, R}, title = {Rethinking heredity, again.}, journal = {Trends in ecology &amp; evolution}, volume = {27}, number = {6}, pages = {330-336}, doi = {10.1016/j.tree.2012.02.003}, pmid = {22445060}, issn = {1872-8383}, mesh = {Animals ; *Evolution, Molecular ; Genetics/history/trends ; History, 20th Century ; Humans ; Models, Genetic ; *Wills ; }, abstract = {The refutation of 'soft' inheritance and establishment of Mendelian genetics as the exclusive model of heredity is widely portrayed as an iconic success story of scientific progress. Yet, we are witnessing a re-emergence of debate on the role of soft inheritance in heredity and evolution. I argue that this reversal reflects not only the weight of new evidence but also an important conceptual change. I show that the concept of soft inheritance rejected by 20th-century genetics differs fundamentally from the current concept of 'nongenetic inheritance'. Moreover, whereas it has long been assumed that heredity is mediated by a single, universal mechanism, a pluralistic model of heredity is now emerging, based on a recognition of multiple, parallel mechanisms of inheritance.}, }
@article {pmid22442492, year = {2012}, author = {Vetrie, D and Vořechovský, I and Sideras, P and Holland, J and Davies, A and Flinter, F and Hammarström, L and Kinnon, C and Levinsky, R and Bobrow, M and Smith, CI and Bentley, DR}, title = {The gene involved in X-linked agammaglobulinaemia is a member of the Src family of protein-tyrosine kinases. 1993.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {188}, number = {7}, pages = {2948-2955}, pmid = {22442492}, issn = {1550-6606}, mesh = {Agammaglobulinaemia Tyrosine Kinase ; Agammaglobulinemia/enzymology/*history ; Amino Acid Sequence ; B-Lymphocytes/enzymology ; Cell Lineage ; Chromosome Mapping ; Chromosomes, Human, X/genetics ; Cloning, Molecular ; Consensus Sequence ; Female ; Genetic Carrier Screening ; Genetic Diseases, X-Linked/enzymology/*history ; History, 20th Century ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Protein-Tyrosine Kinases/chemistry/classification/deficiency/genetics/*history ; *Proto-Oncogenes ; Sequence Alignment ; Sequence Homology, Amino Acid ; X Chromosome Inactivation ; src-Family Kinases/*classification ; }, }
@article {pmid22442491, year = {2012}, author = {Tsukada, S and Saffran, DC and Rawlings, DJ and Parolini, O and Allen, RC and Klisak, I and Sparkes, RS and Kubagawa, H and Mohandas, T and Quan, S and Belmont, JW and Cooper, MD and Conley, ME and Witte, ON}, title = {Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {188}, number = {7}, pages = {2936-2947}, pmid = {22442491}, issn = {1550-6606}, mesh = {Agammaglobulinaemia Tyrosine Kinase ; Agammaglobulinemia/enzymology/*history ; B-Lymphocytes/enzymology ; Cell Lineage ; Chromosomes, Human, X/genetics ; Genetic Diseases, X-Linked/enzymology/*history ; History, 20th Century ; Humans ; Male ; Myeloid Cells/enzymology ; Protein-Tyrosine Kinases/chemistry/deficiency/genetics/*history/isolation &amp; purification ; }, }
@article {pmid22400141, year = {2012}, author = {Smith, K and Alford, JR and Hatemi, PK and Eaves, LJ and Funk, C and Hibbing, JR}, title = {Biology, ideology, and epistemology: how do we know political attitudes are inherited and why should we care?.}, journal = {American journal of political science}, volume = {56}, number = {1}, pages = {17-33}, doi = {10.1111/j.1540-5907.2011.00560.x}, pmid = {22400141}, issn = {0092-5853}, mesh = {*Biology/education/history ; Data Collection/history ; *Genetics, Behavioral/education/history ; History, 20th Century ; History, 21st Century ; *Knowledge ; *Politics ; Public Opinion/history ; *Social Behavior/history ; *Socialization ; Twins/history/psychology ; }, abstract = {Evidence that political attitudes and behavior are in part biologically and even genetically instantiated is much discussed in political science of late. Yet the classic twin design, a primary source of evidence on this matter, has been criticized for being biased toward finding genetic influence. In this article, we employ a new data source to test empirically the alternative, exclusively environmental, explanations for ideological similarities between twins. We find little support for these explanations and argue that even if we treat them as wholly correct, they provide reasons for political science to pay more rather than less attention to the biological basis of attitudes and behaviors. Our analysis suggests that the mainstream socialization paradigm for explaining attitudes and behaviors is not necessarily incorrect but is substantively incomplete.}, }
@article {pmid22345701, year = {2012}, author = {Hogquist, KA and Jameson, SC and Heath, WR and Howard, JL and Bevan, MJ and Carbone, FR}, title = {Pillars article: T cell receptor antagonist peptides induce positive selection. Cell. 1994. 76: 17-27.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {188}, number = {5}, pages = {2046-2056}, pmid = {22345701}, issn = {1550-6606}, mesh = {Animals ; Cell Differentiation/genetics/immunology ; History, 20th Century ; Mice ; Mice, Knockout ; Mice, Transgenic ; Organ Culture Techniques ; Peptide Fragments/*physiology ; Receptors, Antigen, T-Cell/*antagonists &amp; inhibitors/*physiology ; T-Lymphocyte Subsets/cytology/*immunology/metabolism ; Thymus Gland/*cytology/embryology/immunology ; beta 2-Microglobulin/deficiency/genetics ; }, }
@article {pmid22326091, year = {2012}, author = {Edwards, AW}, title = {Punnett's square.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {43}, number = {1}, pages = {219-224}, doi = {10.1016/j.shpsc.2011.11.011}, pmid = {22326091}, issn = {1879-2499}, mesh = {*Crosses, Genetic ; England ; Genetics/*history ; *Genotype ; History, 19th Century ; History, 20th Century ; }, abstract = {The origin and development of Punnett's Square for the enumeration and display of genotypes arising in a cross in Mendelian genetics is described. Due to R. C. Punnett, the idea evolved through the work of the 'Cambridge geneticists', including Punnett's colleagues William Bateson, E. R. Saunders and R. H. Lock, soon after the rediscovery of Mendel's paper in 1900. These geneticists were thoroughly familiar with Mendel's paper, which itself contained a similar square diagram. A previously-unpublished three-factor diagram by Sir Francis Galton existing in the Bateson correspondence in Cambridge University Library is then described. Finally the connection between Punnett's Square and Venn Diagrams is emphasized, and it is pointed out that Punnett, Lock and John Venn overlapped as Fellows of Gonville and Caius College, Cambridge. Copious illustrations are given.}, }
@article {pmid22262756, year = {2012}, author = {Giblett, ER and Anderson, JE and Cohen, F and Pollara, B and Meuwissen, HJ}, title = {Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {188}, number = {3}, pages = {936-938}, pmid = {22262756}, issn = {1550-6606}, mesh = {Adenosine Deaminase/deficiency/genetics/immunology ; Agammaglobulinemia/*etiology/genetics/immunology ; Child, Preschool ; Consanguinity ; Female ; Heterozygote ; History, 20th Century ; Humans ; *Immunity, Cellular ; Infant ; Severe Combined Immunodeficiency/*etiology/genetics/immunology ; }, }
@article {pmid22231450, year = {2012}, author = {Ferreira, LM and Hebrant, A and Dumont, JE}, title = {Metabolic reprogramming of the tumor.}, journal = {Oncogene}, volume = {31}, number = {36}, pages = {3999-4011}, doi = {10.1038/onc.2011.576}, pmid = {22231450}, issn = {1476-5594}, mesh = {Animals ; Cell Transformation, Neoplastic/metabolism ; *Energy Metabolism ; Genes, Neoplasm ; Glycolysis ; History, 20th Century ; Humans ; Molecular Targeted Therapy ; Neoplasms/drug therapy/genetics/history/*metabolism ; Tumor Microenvironment ; }, abstract = {Cancer is classically considered as a genetic and, more recently, epigenetic multistep disease. Despite seminal studies in the 1920s by Warburg showing a characteristic metabolic pattern for tumors, cancer bioenergetics has often been relegated to the backwaters of cancer biology. This review aims to provide a historical account on cancer metabolism research, and to try to integrate and systematize the metabolic strategies in which cancer cells engage to overcome selective pressures during their inception and evolution. Implications of this renovated view on some common concepts and in therapeutics are also discussed.}, }
@article {pmid22221866, year = {2012}, author = {Puillandre, N and Bouchet, P and Boisselier-Dubayle, MC and Brisset, J and Buge, B and Castelin, M and Chagnoux, S and Christophe, T and Corbari, L and Lambourdière, J and Lozouet, P and Marani, G and Rivasseau, A and Silva, N and Terryn, Y and Tillier, S and Utge, J and Samadi, S}, title = {New taxonomy and old collections: integrating DNA barcoding into the collection curation process.}, journal = {Molecular ecology resources}, volume = {12}, number = {3}, pages = {396-402}, doi = {10.1111/j.1755-0998.2011.03105.x}, pmid = {22221866}, issn = {1755-0998}, mesh = {Animals ; Computational Biology/methods ; Crustacea/*classification/*genetics ; DNA/genetics/isolation &amp; purification ; DNA Barcoding, Taxonomic/*methods ; Mollusca/*classification/*genetics ; *Museums ; Paris ; }, abstract = {Because they house large biodiversity collections and are also research centres with sequencing facilities, natural history museums are well placed to develop DNA barcoding best practices. The main difficulty is generally the vouchering system: it must ensure that all data produced remain attached to the corresponding specimen, from the field to publication in articles and online databases. The Museum National d'Histoire Naturelle in Paris is one of the leading laboratories in the Marine Barcode of Life (MarBOL) project, which was used as a pilot programme to include barcode collections for marine molluscs and crustaceans. The system is based on two relational databases. The first one classically records the data (locality and identification) attached to the specimens. In the second one, tissue-clippings, DNA extractions (both preserved in 2D barcode tubes) and PCR data (including primers) are linked to the corresponding specimen. All the steps of the process [sampling event, specimen identification, molecular processing, data submission to Barcode Of Life Database (BOLD) and GenBank] are thus linked together. Furthermore, we have developed several web-based tools to automatically upload data into the system, control the quality of the sequences produced and facilitate the submission to online databases. This work is the result of a joint effort from several teams in the Museum National d'Histoire Naturelle (MNHN), but also from a collaborative network of taxonomists and molecular systematists outside the museum, resulting in the vouchering so far of ∼41,000 sequences and the production of ∼11,000 COI sequences.}, }
@article {pmid22197627, year = {2012}, author = {Gambino, YP and Maymó, JL and Pérez Pérez, A and Calvo, JC and Sánchez-Margalet, V and Varone, CL}, title = {Elsevier Trophoblast Research Award lecture: Molecular mechanisms underlying estrogen functions in trophoblastic cells--focus on leptin expression.}, journal = {Placenta}, volume = {33 Suppl}, number = {}, pages = {S63-70}, doi = {10.1016/j.placenta.2011.12.001}, pmid = {22197627}, issn = {1532-3102}, mesh = {Awards and Prizes ; Endometrium/blood supply/metabolism ; Estradiol/metabolism ; Estrogens/*metabolism ; Female ; *Gene Expression Regulation, Developmental ; History, 21st Century ; Humans ; Leptin/genetics/*metabolism ; Obstetrics/history ; Placental Circulation ; Placentation ; Pregnancy ; Pregnancy Proteins/genetics/*metabolism ; Receptors, Estrogen/*metabolism ; *Signal Transduction ; Trophoblasts/*metabolism ; }, abstract = {The steroid hormone 17β-estradiol is an estrogen that influences multiple aspects of placental function and fetal development in humans. During early pregnancy it plays a role in the regulation of blastocyst implantation, trophoblast differentiation and invasiveness, remodeling of uterine arteries, immunology and trophoblast production of hormones such as leptin. Estradiol exerts some effects through the action of classical estrogen receptors ERα and ERβ, which act as ligand-activated transcription factors and regulate gene expression. In addition, estradiol can elicit rapid responses from membrane-associated receptors, like activation of protein-kinase pathways. Thus, the cellular effects of estradiol will depend on the specific receptors expressed and the integration of their signaling events. Leptin, the 16,000MW protein product of the obese gene, was originally considered an adipocyte-derived signaling molecule for the central control of metabolism. However, pleiotropic effects of leptin have been identified in reproduction and pregnancy. The leptin gene is expressed in placenta, where leptin promotes proliferation and survival of trophoblastic cells. Expression of leptin in placenta is highly regulated by key pregnancy molecules as hCG and estradiol. The aim of this paper is to review the molecular mechanisms underlying estrogen functions in trophoblastic cells; focusing on mechanisms involved in estradiol regulation of placental leptin expression.}, }
@article {pmid22197062, year = {2012}, author = {Di Vincenzo, F and Churchill, SE and Manzi, G}, title = {The Vindija Neanderthal scapular glenoid fossa: comparative shape analysis suggests evo-devo changes among Neanderthals.}, journal = {Journal of human evolution}, volume = {62}, number = {2}, pages = {274-285}, doi = {10.1016/j.jhevol.2011.11.010}, pmid = {22197062}, issn = {1095-8606}, mesh = {Analysis of Variance ; Animals ; Anthropology, Physical ; *Biological Evolution ; Cluster Analysis ; Discriminant Analysis ; Europe ; *Fossils ; History, Ancient ; Hominidae/anatomy &amp; histology ; Humans ; Neanderthals/*anatomy &amp; histology ; Principal Component Analysis ; Scapula/*anatomy &amp; histology ; }, abstract = {Although the shape of the scapular glenoid fossa (SGF) may be influenced by epigenetic and developmental factors, there appears to be strong genetic control over its overall form, such that variation within and between hominin taxa in SGF shape may contain information about their evolutionary histories. Here we present the results of a geometric morphometric study of the SGF of the Neanderthal Vi-209 from Vindjia Cave (Croatia), relative to samples of Plio-Pleistocene, later Pleistocene, and recent hominins. Variation in overall SGF shape follows a chronological trend from the plesiomorphic condition seen in Australopithecus to modern humans, with pre-modern species of the genus Homo exhibiting intermediate morphologies. Change in body size across this temporal series is not linearly directional, which argues against static allometry as an explanation. However, life history and developmental rates change directionally across the series, suggesting an ontogenetic effect on the observed changes in shape (ontogenetic allometry). Within this framework, the morphospace occupied by the Neanderthals exhibits a discontinuous distribution. The Vindija SGF and those of the later Near Eastern Neanderthals (Kebara and Shanidar) approach the modern condition and are somewhat segregated from both northwestern European (Neandertal and La Ferrassie) and early Mediterranean Neanderthals (Krapina and Tabun). Although more than one scenario may account for the pattern seen in the Neanderthals, the data is consistent with palaeogenetic evidence suggesting low levels of gene flow between Neanderthals and modern humans in the Near East after ca. 120-100 ka (thousands of years ago) (with subsequent introgression of modern human alleles into eastern and central Europe). Thus, in keeping with previous analyses that document some modern human features in the Vindija Neanderthals, the Vindija G(3) sample should not be seen as representative of 'classic'--that is, unadmixed, pre-contact--Neanderthal morphology.}, }
@article {pmid22187482, year = {2012}, author = {Yancopoulos, GD and Alt, FW}, title = {Developmentally controlled and tissue-specific expression of unrearranged VH gene segments. Cell. 1985. 40: 271-281.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {188}, number = {1}, pages = {10-20}, pmid = {22187482}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocytes/*immunology ; Cell Differentiation/drug effects/*physiology ; Gene Expression Regulation/drug effects/*physiology ; History, 20th Century ; Immunoglobulin Heavy Chains/biosynthesis/genetics/*immunology ; Immunoglobulin Variable Region/biosynthesis/genetics/*immunology ; Lipopolysaccharides ; Mice ; Mice, Inbred BALB C ; Organ Specificity/drug effects/physiology ; Promoter Regions, Genetic/*physiology ; }, }
@article {pmid22186258, year = {2012}, author = {Waddington, CH}, title = {The epigenotype. 1942.}, journal = {International journal of epidemiology}, volume = {41}, number = {1}, pages = {10-13}, doi = {10.1093/ije/dyr184}, pmid = {22186258}, issn = {1464-3685}, mesh = {Animals ; Drosophila melanogaster/*genetics ; *Epigenesis, Genetic ; *Genotype ; History, 20th Century ; *Phenotype ; }, abstract = {The adult characteristics of animals, i.e. their phenotypes, must be studied in order to reach conclusions about the genotypes, i.e. the hereditary constitutions which form the basic subject-matter of genetics. But between genotype and phenotype lies a whole complex of development processes, for which Dr Waddington proposes the name 'epigenotype.' He here describes some of the general characteristics of an epigenotype, with special reference to the fruit-fly Drosophila melanogaster.}, }
@article {pmid22113501, year = {2012}, author = {Manto, M and Haines, D}, title = {Cerebellar research: two centuries of discoveries.}, journal = {Cerebellum (London, England)}, volume = {11}, number = {2}, pages = {446-448}, pmid = {22113501}, issn = {1473-4230}, mesh = {Animals ; Cerebellar Diseases/history ; Cerebellum/*physiology ; History, 20th Century ; Humans ; Nerve Fibers/physiology ; Neural Pathways/physiology ; Neurology/*history ; Research/*history ; }, abstract = {Numerous laboratories currently focus their activities on cerebellar research. The cerebellum is attractive due to its sophisticated circuitry, high degree of modifiability combined with unique operational mechanisms, and the growing awareness of its multiple roles. Works of pioneers of these last two centuries, such as Rolando, Flourens, Magendie, Luciani, Lugaro, Babinski, Holmes, Cajal, Larsell, Eccles, Voogd, Llinas, or Ito, still exert a strong influence in the way we investigate cerebellar functions. The amount of knowledge is exploding, thanks to advances in genetics, molecular and cellular analyses, profusion of brain imaging techniques, novel behavioral assessments, and reshaping of models of cerebellar function. More than ever, strong and consistent intellectual efforts are required to generate homogeneous research outcomes that might exert a significant influence in the forthcoming domains of research. Because research is often based on the results of our predecessors, The Cerebellum has launched a section called Cerebellar Classics. Papers selected represent key steps for the discovery of some of the secrets of the cerebellar circuitry. These seminal contributions offer a portal to the past to modern scholars.}, }
@article {pmid22102732, year = {2011}, author = {Schindler, C and Shuai, K and Prezioso, VR and Darnell, JE}, title = {Pillars article: Interferon-dependent tyrosine phosphorylation of a latent cytoplasmic transcription factor. Science. 1992. 257: 809-813.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {187}, number = {11}, pages = {5489-5494}, pmid = {22102732}, issn = {1550-6606}, mesh = {Gene Expression Regulation/*immunology ; History, 20th Century ; Humans ; Interferon-Stimulated Gene Factor 3, alpha Subunit/*history/metabolism ; Interferon-gamma/history ; Phosphotyrosine/*metabolism ; Transcription, Genetic/*immunology ; }, }
@article {pmid22038521, year = {2012}, author = {Zierath, JR}, title = {Remembering our classics: then and now.}, journal = {Diabetologia}, volume = {55}, number = {1}, pages = {1-2}, pmid = {22038521}, issn = {1432-0428}, mesh = {Animals ; Biomedical Research/history ; Diabetes Mellitus/genetics/*history ; History, 20th Century ; Humans ; Mice ; Obesity/genetics/history ; }, }
@article {pmid21948002, year = {2013}, author = {Zhu, H and Webby, R and Lam, TT and Smith, DK and Peiris, JS and Guan, Y}, title = {History of Swine influenza viruses in Asia.}, journal = {Current topics in microbiology and immunology}, volume = {370}, number = {}, pages = {57-68}, doi = {10.1007/82_2011_179}, pmid = {21948002}, issn = {0070-217X}, support = {HSN266200700005C//PHS HHS/United States ; }, mesh = {Animals ; Asia/epidemiology ; Epidemics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Influenza A Virus, H1N1 Subtype/genetics/isolation &amp; purification ; Influenza A Virus, H1N2 Subtype/genetics/isolation &amp; purification ; Influenza A Virus, H3N2 Subtype/genetics ; Influenza, Human/epidemiology/history/virology ; Orthomyxoviridae/genetics/*isolation &amp; purification ; Orthomyxoviridae Infections/epidemiology/history/*veterinary/virology ; Swine ; Swine Diseases/epidemiology/*history/*virology ; }, abstract = {The pig is one of the main hosts of influenza A viruses and plays important roles in shaping the current influenza ecology. The occurrence of the 2009 H1N1 pandemic influenza virus demonstrated that pigs could independently facilitate the genesis of a pandemic influenza strain. Genetic analyses revealed that this virus was derived by reassortment between at least two parent swine influenza viruses (SIV), from the northern American triple reassortant H1N2 (TR) and European avian-like H1N1 (EA) lineages. The movement of live pigs between different continents and subsequent virus establishment are preconditions for such a reassortment event to occur. Asia, especially China, has the largest human and pig populations in the world, and seems to be the only region frequently importing pigs from other continents. Virological surveillance revealed that not only classical swine H1N1 (CS), and human-origin H3N2 viruses circulated, but all of the EA, TR and their reassortant variants were introduced into and co-circulated in pigs in this region. Understanding the long-term evolution and history of SIV in Asia would provide insights into the emergence of influenza viruses with epidemic potential in swine and humans.}, }
@article {pmid21908742, year = {2011}, author = {Reid, JB and Ross, JJ}, title = {Mendel's genes: toward a full molecular characterization.}, journal = {Genetics}, volume = {189}, number = {1}, pages = {3-10}, pmid = {21908742}, issn = {1943-2631}, mesh = {Cotyledon/genetics ; Flowers/genetics ; *Genes, Plant ; Genetic Linkage ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Mutation/genetics ; Peas/*genetics/history/metabolism ; Phenotype ; Plant Stems/genetics ; Seeds/genetics ; }, abstract = {The discipline of classical genetics is founded on the hereditary behavior of the seven genes studied by Gregor Mendel. The advent of molecular techniques has unveiled much about the identity of these genes. To date, four genes have been sequenced: A (flower color), LE (stem length), I (cotyledon color), and R (seed shape). Two of the other three genes, GP (pod color) and FA (fasciation), are amenable to candidate gene approaches on the basis of their function, linkage relationships, and synteny between the pea and Medicago genomes. However, even the gene (locus) identity is not known for certain for the seventh character, the pod form, although it is probably V. While the nature of the mutations used by Mendel cannot be determined with certainty, on the basis of the varieties available in Europe in the 1850s, we can speculate on their nature. It turns out that these mutations are attributable to a range of causes-from simple base substitutions and changes to splice sites to the insertion of a transposon-like element. These findings provide a fascinating connection between Mendelian genetics and molecular biology that can be used very effectively in teaching new generations of geneticists. Mendel's characters also provide novel insights into the nature of the genes responsible for characteristics of agronomic and consumer importance.}, }
@article {pmid21887864, year = {2011}, author = {Kresge, N and Simoni, RD and Hill, RL}, title = {The lipid A assembly pathway: the work of Christian Raetz.}, journal = {The Journal of biological chemistry}, volume = {286}, number = {29}, pages = {e6-8}, pmid = {21887864}, issn = {1083-351X}, mesh = {Germany, East ; History, 20th Century ; History, 21st Century ; Lipid A/*metabolism ; Molecular Biology/*history ; }, abstract = {During his career, Christian Raetz has characterized many enzymes responsible for synthesizing or modifying lipid molecules, including the entire nine-enzyme pathway for the biosynthesis of lipid A, an essential part of bacterial outer membranes that plays a role in making many Gram-negative bacteria toxic. The findings from the two Journal of Biological Chemistry (JBC) Classic articles reprinted here were the start of Raetz' elucidation of the enzymology, genetics, and structural biology of lipid A assembly. Fatty Acyl Derivatives of Glucosamine 1-Phosphate in Escherichia coli and Their Relation to Lipid A. Complete Structure of a Diacyl GlcN-1-P Found in a Phosphatidylglycerol-deficient Mutant (Takayama, K., Qureshi, N., Mascagni, P., Nashed, M. A., Anderson, L., and Raetz, C. R. H. (1983) J. Biol. Chem. 258, 7379–7385) The Biosynthesis of Gram-negative Endotoxin. Formation of Lipid A Precursors from UDP-GlcNAc in Extracts of Escherichia coli (Anderson, M. S., Bulawa, C. E., and Raetz, C. R. H. (1985) J. Biol. Chem. 260, 15536–15541)}, }
@article {pmid21856943, year = {2011}, author = {Sachs, DH and Cone, JL}, title = {A mouse B-cell alloantigen determined by gene(s) linked to the major histocompatibility complex. The Journal of Experimental Medicine. 1973. 138: 1289-1304.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {187}, number = {5}, pages = {2045-2060}, pmid = {21856943}, issn = {1550-6606}, mesh = {Allergy and Immunology/*history ; Animals ; B-Lymphocytes/*immunology ; History, 20th Century ; Isoantigens/genetics/*immunology ; Major Histocompatibility Complex/genetics/*immunology ; Mice ; }, }
@article {pmid21830328, year = {2011}, author = {Kresge, N and Simoni, RD and Hill, RL}, title = {The molecular genetics of bacteriophage: the work of Norton Zinder.}, journal = {The Journal of biological chemistry}, volume = {286}, number = {25}, pages = {e4-5}, pmid = {21830328}, issn = {1083-351X}, mesh = {Bacteriophages/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, abstract = {In 1966, Norton Zinder and Joshua Lederberg discovered that Salmonella could exchange genes via bacteriophages. They named this phenomenon “genetic transduction.” This discovery set Zinder on a lifelong journey researching bacteriophage. In the two Journal of Biological Chemistry (JBC) Classic papers reprinted here, Zinder and Nina Fedoroff present their findings on the phage f2 replicase. Properties of the Phage f2 Replicase. I. Optimal Conditions for Replicase Activity and Analysis of the Polynucleotide Product Synthesized in Vitro (Fedoroff, N. V., and Zinder, N. D. (1972) J. Biol. Chem. 247, 4577–4585) Properties of the Phage f2 Replicase. II. Comparative Studies on the Ribonucleic Acid-dependent and Poly(C)-dependent Activities of the Replicase (Fedoroff, N. V., and Zinder, N. D. (1972) J. Biol. Chem. 247, 4586–4592)}, }
@article {pmid21818291, year = {2011}, author = {Breurec, S and Guillard, B and Hem, S and Brisse, S and Dieye, FB and Huerre, M and Oung, C and Raymond, J and Tan, TS and Thiberge, JM and Vong, S and Monchy, D and Linz, B}, title = {Evolutionary history of Helicobacter pylori sequences reflect past human migrations in Southeast Asia.}, journal = {PloS one}, volume = {6}, number = {7}, pages = {e22058}, pmid = {21818291}, issn = {1932-6203}, mesh = {Adolescent ; Adult ; Aged ; Asia, Southeastern/epidemiology ; Base Sequence ; Emigration and Immigration/*history ; Europe/epidemiology ; *Evolution, Molecular ; Female ; Geography ; Haplotypes/genetics ; Helicobacter pylori/*genetics ; History, Ancient ; Host Specificity/genetics ; Humans ; Incidence ; Male ; Middle Aged ; Middle East/epidemiology ; Phylogeny ; Stomach Neoplasms/epidemiology/microbiology ; Young Adult ; }, abstract = {The human population history in Southeast Asia was shaped by numerous migrations and population expansions. Their reconstruction based on archaeological, linguistic or human genetic data is often hampered by the limited number of informative polymorphisms in classical human genetic markers, such as the hypervariable regions of the mitochondrial DNA. Here, we analyse housekeeping gene sequences of the human stomach bacterium Helicobacter pylori from various countries in Southeast Asia and we provide evidence that H. pylori accompanied at least three ancient human migrations into this area: i) a migration from India introducing hpEurope bacteria into Thailand, Cambodia and Malaysia; ii) a migration of the ancestors of Austro-Asiatic speaking people into Vietnam and Cambodia carrying hspEAsia bacteria; and iii) a migration of the ancestors of the Thai people from Southern China into Thailand carrying H. pylori of population hpAsia2. Moreover, the H. pylori sequences reflect iv) the migrations of Chinese to Thailand and Malaysia within the last 200 years spreading hspEasia strains, and v) migrations of Indians to Malaysia within the last 200 years distributing both hpAsia2 and hpEurope bacteria. The distribution of the bacterial populations seems to strongly influence the incidence of gastric cancer as countries with predominantly hspEAsia isolates exhibit a high incidence of gastric cancer while the incidence is low in countries with a high proportion of hpAsia2 or hpEurope strains. In the future, the host range expansion of hpEurope strains among Asian populations, combined with human motility, may have a significant impact on gastric cancer incidence in Asia.}, }
@article {pmid21802638, year = {2011}, author = {Razeto-Barry, P and Frick, R}, title = {Probabilistic causation and the explanatory role of natural selection.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {42}, number = {3}, pages = {344-355}, doi = {10.1016/j.shpsc.2011.03.001}, pmid = {21802638}, issn = {1879-2499}, mesh = {Biological Evolution ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; *Models, Genetic ; *Selection, Genetic ; }, abstract = {The explanatory role of natural selection is one of the long-term debates in evolutionary biology. Nevertheless, the consensus has been slippery because conceptual confusions and the absence of a unified, formal causal model that integrates different explanatory scopes of natural selection. In this study we attempt to examine two questions: (i) What can the theory of natural selection explain? and (ii) Is there a causal or explanatory model that integrates all natural selection explananda? For the first question, we argue that five explananda have been assigned to the theory of natural selection and that four of them may be actually considered explananda of natural selection. For the second question, we claim that a probabilistic conception of causality and the statistical relevance concept of explanation are both good models for understanding the explanatory role of natural selection. We review the biological and philosophical disputes about the explanatory role of natural selection and formalize some explananda in probabilistic terms using classical results from population genetics. Most of these explananda have been discussed in philosophical terms but some of them have been mixed up and confused. We analyze and set the limits of these problems.}, }
@article {pmid21798859, year = {2011}, author = {Paris, HS and Janick, J and Daunay, MC}, title = {Medieval herbal iconography and lexicography of Cucumis (cucumber and melon, Cucurbitaceae) in the Occident, 1300-1458.}, journal = {Annals of botany}, volume = {108}, number = {3}, pages = {471-484}, pmid = {21798859}, issn = {1095-8290}, mesh = {Books, Illustrated/*history ; Crops, Agricultural/*history ; *Cucumis melo ; *Cucumis sativus ; Europe ; Herbal Medicine/history ; History, 15th Century ; History, Medieval ; }, abstract = {BACKGROUND: The genus Cucumis contains two species of important vegetable crops, C. sativus, cucumber, and C. melo, melon. Melon has iconographical and textual records from lands of the Mediterranean Basin dating back to antiquity, but cucumber does not. The goal of this study was to obtain an improved understanding of the history of these crops in the Occident. Medieval images purportedly of Cucumis were examined, their specific identity was determined and they were compared for originality, accuracy and the lexicography of their captions.<br><br>FINDINGS: The manuscripts having accurate, informative images are derived from Italy and France and were produced between 1300 and 1458. All have an illustration of cucumber but not all contain an image of melon. The cucumber fruits are green, unevenly cylindrical with an approx. 2:1 length-to-width ratio. Most of the images show the cucumbers marked by sparsely distributed, large dark dots, but images from northern France show them as having densely distributed, small black dots. The different size, colour and distribution reflect the different surface wartiness and spininess of modern American and French pickling cucumbers. The melon fruits are green, oval to serpentine, closely resembling the chate and snake vegetable melons, but not sweet melons. In nearly all manuscripts of Italian provenance, the cucumber image is labelled with the Latin caption citruli, or similar, plural diminuitive of citrus (citron, Citrus medica). However, in manuscripts of French provenance, the cucumber image is labelled cucumeres, which is derived from the classical Latin epithet cucumis for snake melon. The absence of melon in some manuscripts and the expropriation of the Latin cucumis/cucumer indicate replacement of vegetable melons by cucumbers during the medieval period in Europe. One image, from British Library ms. Sloane 4016, has a caption that allows tracing of the word 'gherkin' back to languages of the geographical nativity of C. sativus, the Indian subcontinent.}, }
@article {pmid21796517, year = {2011}, author = {Brinkmann, AO}, title = {Molecular mechanisms of androgen action--a historical perspective.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {776}, number = {}, pages = {3-24}, doi = {10.1007/978-1-61779-243-4_1}, pmid = {21796517}, issn = {1940-6029}, mesh = {Androgens/*genetics/history/*metabolism/physiology ; Animals ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Prostatic Neoplasms/genetics/metabolism ; Receptors, Androgen/genetics/metabolism ; Testosterone/biosynthesis/metabolism ; }, abstract = {Androgens and the androgen receptor (AR) are indispensable for expression of the male phenotype. The two most important androgens are testosterone and 5α-dihydrotestosterone. The elucidation of the mechanism of androgen action has a long history starting in the 19th century with the classical experiments by Brown-Séquard. In the 1960s the steroid hormone receptor concept was established and the AR was identified as a protein entity with a high affinity and specificity for testosterone and 5α-dihydrotestosterone. In addition, the enzyme 5α-reductase type 2 was discovered and found to catalyze the conversion of testosterone to the more active metabolite 5α-dihydrotestosterone. In the second half of the 1980s, the cDNA cloning of all steroid hormone receptors, including that of the AR, has been another milestone in the whole field of steroid hormone action. Despite two different ligands (testosterone and 5α-dihydrotestosterone), only one AR cDNA has been identified and cloned. The AR (NR3C4) is a ligand-dependent transcription factor and belongs to the family of nuclear hormone receptors which has 48 members in human. The current model for androgen action involves a multistep mechanism. Studies have provided insight into AR association with co-regulators involved in transcription initiation and on intramolecular interactions of the AR protein during activation. Knowledge about androgen action in the normal physiology and in disease states has increased tremendously after cloning of the AR cDNA. Several diseases, such as androgen insensitivity syndrome (AIS), prostate cancer and spinal bulbar muscular atrophy (SBMA), have been shown to be associated with alterations in AR function due to mutations in the AR gene or dysregulation of androgen signalling. A historical overview of androgen action and salient features of AR function in normal and disease states are provided herein.}, }
@article {pmid21789954, year = {2011}, author = {Lorenzano, P}, title = {What would have happened if Darwin had known Mendel (or Mendel's work)?.}, journal = {History and philosophy of the life sciences}, volume = {33}, number = {1}, pages = {3-49}, pmid = {21789954}, issn = {0391-9714}, mesh = {Austria ; Biological Evolution ; England ; Genetic Research/*history ; History, 19th Century ; *Selection, Genetic ; }, abstract = {The question posed by the title is usually answered by saying that the "synthesis" between the theory of evolution by natural selection and classical genetics, which took place in 1930s-40s, would have taken place much earlier if Darwin had been aware of Mendel and his work. What is more, it nearly happened: it would have been enough if Darwin had cut the pages of the offprint of Mendel's work that was in his library and read them! Or, if Mendel had come across Darwin in London or paid him a visit at his house in the outskirts! (on occasion of Mendel's trip in 1862 to that city). The aim of the present paper is to provide elements for quite a different answer, based on further historical evidence, especially on Mendel's works, some of which mention Darwins's studies.}, }
@article {pmid21739083, year = {2011}, author = {Ferreira, LF and Jansen, AM and Araújo, A}, title = {Chagas disease in prehistory.}, journal = {Anais da Academia Brasileira de Ciencias}, volume = {83}, number = {3}, pages = {1041-1044}, doi = {10.1590/s0001-37652011005000013}, pmid = {21739083}, issn = {1678-2690}, mesh = {Americas ; Animals ; Chagas Disease/*history ; History, Ancient ; Humans ; Mummies/*parasitology ; Paleopathology ; Trypanosoma cruzi/genetics/*isolation &amp; purification ; }, abstract = {The classical hypothesis proposes that Chagas disease has been originated in the Andean region among prehistoric people when they started domesticating animals, changing to sedentary habits, and adopting agriculture. These changes in their way of life happened nearly 6,000 years ago. However, paleoparasitological data based on molecular tools showed that Trypanosoma cruzi infection and Chagas disease were commonly found both in South and North American prehistoric populations long before that time, suggesting that Chagas disease may be as old as the human presence in the American continent. The study of the origin and dispersion of Trypanosoma cruzi infection among prehistoric human populations may help in the comprehension of the clinical and epidemiological questions on Chagas disease that still remain unanswered.}, }
@article {pmid21737319, year = {2011}, author = {Nicholas, FW and Crook, A and Sargan, DR}, title = {Internet resources cataloguing inherited disorders in dogs.}, journal = {Veterinary journal (London, England : 1997)}, volume = {189}, number = {2}, pages = {132-135}, doi = {10.1016/j.tvjl.2011.06.009}, pmid = {21737319}, issn = {1532-2971}, mesh = {Animals ; Databases, Factual/history ; *Databases, Genetic/history ; Dog Diseases/diagnosis/*genetics ; Dogs ; Genetic Diseases, Inborn/diagnosis/genetics/*veterinary ; History, 20th Century ; History, 21st Century ; *Internet ; }, abstract = {Up-to-date annotated catalogues of known inherited disorders in dogs are freely available on the Internet, providing vital information to existing and prospective dog owners, dog breeders, veterinarians, geneticists and others interested in the occurrence and control of inherited disorders. These resources are the Canine Inherited Disorders Database (CIDD), Inherited Diseases in Dogs (IDID) and Online Mendelian Inheritance in Animals (OMIA) the latter associated with Listing of Inherited Disorders in Animals (LIDA). The history and features of these resources are summarised.}, }
@article {pmid21731623, year = {2011}, author = {Telldahl, Y and Svensson, E and Götherström, A and Storå, J}, title = {Typing late prehistoric cows and bulls--osteology and genetics of cattle at the Eketorp ringfort on the Öland island in Sweden.}, journal = {PloS one}, volume = {6}, number = {6}, pages = {e20748}, pmid = {21731623}, issn = {1932-6203}, mesh = {Animals ; Bone and Bones/*pathology ; Cattle/*genetics ; Epiphyses/pathology ; Female ; *Fossils ; *Geography ; Haplotypes/genetics ; History, Ancient ; Humans ; Male ; Metatarsal Bones/pathology ; Molecular Typing/*methods ; Organ Size ; Sweden ; Y Chromosome/genetics ; }, abstract = {Human management of livestock and the presence of different breeds have been discussed in archaeozoology and animal breeding. Traditionally osteometrics has been the main tool in addressing these questions. We combine osteometrics with molecular sex identifications of 104 of 340 morphometrically analysed bones in order to investigate the use of cattle at the Eketorp ringfort on the Öland island in Sweden. The fort is dated to 300-1220/50 A.D., revealing three different building phases. In order to investigate specific patterns and shifts through time in the use of cattle the genetic data is evaluated in relation to osteometric patterns and occurrence of pathologies on cattle metapodia. Males were genotyped for a Y-chromosomal SNP in UTY19 that separates the two major haplogroups, Y1 and Y2, in taurine cattle. A subset of the samples were also genotyped for one SNP involved in coat coloration (MC1R), one SNP putatively involved in resistance to cattle plague (TLR4), and one SNP in intron 5 of the IGF-1 gene that has been associated to size and reproduction.The results of the molecular analyses confirm that the skeletal assemblage from Eketorp is dominated by skeletal elements from females, which implies that dairying was important. Pathological lesions on the metapodia were classified into two groups; those associated with the use as draught animals and those lesions without a similar aetiology. The results show that while bulls both exhibit draught related lesions and other types of lesions, cows exhibit other types of lesions. Interestingly, a few elements from females exhibit draught related lesions. We conclude that this reflects the different use of adult female and male cattle.Although we note some variation in the use of cattle at Eketorp between Iron Age and Medieval time we have found little evidence for the use of different types of animals for specific purposes. The use of specific (genetic) breeds seems to be a phenomenon that developed later than the Eketorp settlement.}, }
@article {pmid21661232, year = {2010}, author = {Katsui, K}, title = {[A study of Hashida Kunihiko's thought: the life history and thought of an "outcast thinker"].}, journal = {Nihon ishigaku zasshi. [Journal of Japanese history of medicine]}, volume = {56}, number = {4}, pages = {527-538}, pmid = {21661232}, issn = {0549-3323}, mesh = {History, 19th Century ; Japan ; Philosophy, Medical/*history ; }, abstract = {Hashida Kunihiko, described and known as "an Outcast Thinker", was born in Tottori, in 1882. From his young age, he was taught oriental thought by his father Fujita Kenzo, a practitioner of Kampo medicine. While Hashida taught physiology as a faculty member at the Imperial University of Tokyo, he studied Dogen's Zen philosophy and developed his original philosophy of science to answer the question: "What is Life/Living?". After taking the oath of office as the 56th education minister of Japan from 1940 to 1943, he committed suicide in 1945, taking the responsibility for his policy-making of nationalistic education at time of the Second World War. Some previous studies on Hashida have focused on various aspects such as his work as a physiologist, a scientist, a scholar of Zen philosophy, and an educrat. He may be well known in each of these different disciplines, whereas how these different aspects are integrated in Hashida's thought as a whole has not been clarified yet. Taking the propositions in those previous studies on him into account to totally understand Hashida as a thinker, this note will focus on the potential perspective for his undiscovered aspect: "Hashida as Medical Philosopher". Hashida has perused and loved two classical texts on oriental thought and oriental medicine, which are "Chuan Xi Lu" and "Shang Han Lun", during his lifetime and learned many things about "Medicine". He has tried to implement his philosophy of medicine to set up and maturate "Japanese medicine". Hence, to dissert "Hashida as Medical Philosopher" may become a ground for argument to understand his thought as a whole from the genetic perspective on the process of thought formation of Hashida. Therefore this note can be characterized as a preliminary survey to develop the further studies on Hashida's thought.}, }
@article {pmid21626549, year = {2011}, author = {Gasser, T and Hardy, J and Mizuno, Y}, title = {Milestones in PD genetics.}, journal = {Movement disorders : official journal of the Movement Disorder Society}, volume = {26}, number = {6}, pages = {1042-1048}, doi = {10.1002/mds.23637}, pmid = {21626549}, issn = {1531-8257}, support = {G-0907/PUK_/Parkinson's UK/United Kingdom ; G0701075/MRC_/Medical Research Council/United Kingdom ; }, mesh = {*Genetic Predisposition to Disease/history ; Genetic Variation/*genetics ; History, 20th Century ; History, 21st Century ; Humans ; Nerve Tissue Proteins/genetics ; Parkinson Disease/*genetics/history ; }, abstract = {Over the last 25 years, genetic findings have profoundly changed our views on the etiology of Parkinson's disease. Linkage studies and positional cloning strategies have identified mutations in a number of genes that cause several monogenic autosomal-dominant or autosomal-recessive forms of the disorder. Although most of these Mendelian forms of Parkinson's disease are rare, whole-genome association studies have more recently provided convincing evidence that low-penetrance variants in at least some of these, but also in several other genes, play a direct role in the etiology of the common sporadic disease as well. In addition, rare variants with intermediate-effect strengths in genes such as Gaucher's disease-associated glucocerebrosidase A have been discovered as important risk factors. "Next-generation" sequencing technologies are expected by some to identify many more of these variants. Thus, an increasingly complex network of genes contributing in different ways to disease risk and progression is emerging. These findings may provide the "genetic entry points" to identify molecular targets and readouts necessary to design rational disease-modifying treatments.}, }
@article {pmid21609820, year = {2011}, author = {Breunig, JJ and Haydar, TF and Rakic, P}, title = {Neural stem cells: historical perspective and future prospects.}, journal = {Neuron}, volume = {70}, number = {4}, pages = {614-625}, pmid = {21609820}, issn = {1097-4199}, support = {R01 NS014841/NS/NINDS NIH HHS/United States ; R01 DA023999-05/DA/NIDA NIH HHS/United States ; R01 NS014841-33/NS/NINDS NIH HHS/United States ; R37 DA023999/DA/NIDA NIH HHS/United States ; R01 NS051852/NS/NINDS NIH HHS/United States ; R01 DA023999/DA/NIDA NIH HHS/United States ; }, mesh = {Animals ; Forecasting ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Neural Stem Cells/*cytology/physiology/*transplantation ; Stem Cell Transplantation/*history/trends ; }, abstract = {How a single fertilized cell generates diverse neuronal populations has been a fundamental biological problem since the 19(th) century. Classical histological methods revealed that postmitotic neurons are produced in a precise temporal and spatial order from germinal cells lining the cerebral ventricles. In the 20(th) century, DNA labeling and histo- and immunohistochemistry helped to distinguish the subtypes of dividing cells and delineate their locations in the ventricular and subventricular zones. Recently, genetic and cell biological methods have provided insights into sequential gene expression and molecular and cellular interactions that generate heterogeneous populations of NSCs leading to specific neuronal classes. This precisely regulated developmental process does not tolerate significant in vivo deviation, making replacement of adult neurons by NSCs during pathology a colossal challenge. In contrast, utilizing the trophic factors emanating from the NSC or their derivatives to slow down deterioration or prevent death of degenerating neurons may be a more feasible strategy.}, }
@article {pmid21597040, year = {2011}, author = {Feng, Y and Broder, CC and Kennedy, PE and Berger, EA}, title = {Pillars article: HIV-1 entry cofactor: functional cDNA cloning of a seven-transmembrane, G protein-coupled receptor. Science. 1996. 272: 872-877.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {186}, number = {11}, pages = {6076-6081}, pmid = {21597040}, issn = {1550-6606}, support = {ZIA AI000538-22//Intramural NIH HHS/United States ; }, mesh = {Cloning, Molecular ; DNA, Complementary/genetics ; HIV Infections/history/metabolism/virology ; HIV-1/*metabolism ; History, 20th Century ; Humans ; *Membrane Fusion ; Receptors, CXCR4/genetics/*metabolism ; }, abstract = {A cofactor for HIV-1 (human immunodeficiency virus-type 1) fusion and entry was identified with the use of a novel functional complementary DNA (cDNA) cloning strategy. This protein, designated “fusin,” is a putative G protein–coupled receptor with seven transmembrane segments. Recombinant fusin enabled CD4-expressing nonhuman cell types to support HIV-1 Env-mediated cell fusion and HIV-1 infection. Antibodies to fusin blocked cell fusion and infection with normal CD4-positive human target cells. Fusin messenger RNA levels correlated with HIV-1 permissiveness in diverse human cell types. Fusin acted preferentially for T cell line–tropic isolates, in comparison to its activity with macrophage-tropic HIV-1 isolates.}, }
@article {pmid22528171, year = {2011}, author = {Lüderitz, B}, title = {[On the history of heart failure].}, journal = {Clinical research in cardiology supplements}, volume = {6}, number = {}, pages = {2-5}, doi = {10.1007/s11789-011-0026-2}, pmid = {22528171}, issn = {1861-0714}, mesh = {Animals ; Cardiac Resynchronization Therapy/history ; Cardiovascular Agents/history/therapeutic use ; Heart Failure/*history/therapy ; Heart Transplantation/history ; Heart-Assist Devices/history ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Paintings ; Stem Cell Transplantation/history ; }, abstract = {The heart is by far the organ that is best known and has been identified for a long time. Myogenic weakness of the heart muscle pump with left-ventricular dysfunction remains the cardiac disease with the poorest prognosis while increasing in prevalence and incidence. Aside from all sorts of mystic treatment attempts and dubious herbal medicine, bloodletting was established early on as a superior remedy, which was applied in response to almost all cardiac illnesses. The first and perhaps most important cardiac drug was digitalis, the glycoside of the red and even more so of the white foxglove, described in 1552 by Leonhart Fuchs. In the 1980s, vasodilators and inotropic drugs supplemented the classical medications digitalis and diuretics. ACE inhibitors and beta-receptor blockers were added in the 1990s; at the turn of the millennium, the cardiac resynchronization therapy (CRT) and left-heart assist systems were developed; lately, there have been cellular and genetic approaches as well as xenotransplants. Preliminary results with stem cell technology are encouraging; however, it will be years until a clinical application-if it will happen at all.}, }
@article {pmid21513870, year = {2011}, author = {Christensen, JC and Leff, FB and Lepow, GM and Schwartz, RI and Colon, PA and Arminio, ST and Nixon, P and Segel, D and Leff, S}, title = {Congenital polydactyly and polymetatarsalia: classification, genetics, and surgical correction. 1981.}, journal = {The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons}, volume = {50}, number = {3}, pages = {336-339}, doi = {10.1053/j.jfas.2011.03.008}, pmid = {21513870}, issn = {1542-2224}, mesh = {Adolescent ; Child, Preschool ; Female ; History, 20th Century ; Humans ; Male ; Middle Aged ; Polydactyly/classification/genetics/*history/surgery ; Toes/*abnormalities ; }, }
@article {pmid21417891, year = {2010}, author = {Rubicz, R and Zlojutro, M and Sun, G and Spitsyn, V and Deka, R and Young, KL and Crawford, MH}, title = {Genetic architecture of a small, recently aggregated Aleut population: Bering Island, Russia.}, journal = {Human biology}, volume = {82}, number = {5-6}, pages = {719-736}, doi = {10.3378/027.082.0512}, pmid = {21417891}, issn = {1534-6617}, mesh = {Alaska ; Chromosomes, Human, Y ; DNA, Mitochondrial ; Female ; *Genetic Drift ; Genetic Markers ; Genetic Variation/*genetics ; History, Ancient ; Humans ; Inuit/genetics/*history/statistics &amp; numerical data ; Male ; Phylogeography/history/statistics &amp; numerical data ; Russia ; Statistics as Topic ; }, abstract = {The fishing community of Bering Island, located in the Russian Commander Islands off the Kamchatka Peninsula, was originally founded by a small number of Russian soldiers and merchants, along with Aleuts forcibly relocated from the western region of the Aleutian archipelago. The purpose of this study is to characterize the genetic variation of Bering Island inhabitants for autosomal, mitochondrial, and Y-chromosome DNA and classic genetic markers and to investigate the genetic impact of the 19th-century founding and subsequent demographic events on this heterogeneous community. Our results show a loss of diversity among maternal lineages in the Bering Aleut population, with fixation of mtDNA haplogroup D, as revealed by median-joining network analysis and mismatch differences. Conversely, paternal haplotypes exhibit an increase in diversity and the presence of a substantial number of non-Native lineages. Admixture results, based on autosomal STR data, indicate that parental contributions to the mixed Aleut population of Bering are approximately 60% Aleut and 40% Russian. Classic genetic markers show affinities between the Bering Island Aleuts and the other historically founded Aleut communities of St. Paul and St. George in the Pribilof Islands, Alaska. This study demonstrates that the opposing evolutionary forces of genetic drift and gene flow acted on the maternal and paternal lineages, respectively, to shape the genetic structure of the present-day inhabitants of Bering Island.}, }
@article {pmid21385185, year = {2011}, author = {Bucheton, B and MacLeod, A and Jamonneau, V}, title = {Human host determinants influencing the outcome of Trypanosoma brucei gambiense infections.}, journal = {Parasite immunology}, volume = {33}, number = {8}, pages = {438-447}, pmid = {21385185}, issn = {1365-3024}, support = {079703/WT_/Wellcome Trust/United Kingdom ; 095201/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Animals ; Apolipoprotein L1 ; Apolipoproteins/genetics ; Cattle ; Cytokines/genetics/immunology ; Disease Models, Animal ; *Genetic Variation ; History, 20th Century ; History, 21st Century ; Humans ; Immunity, Innate ; Lipoproteins, HDL/genetics ; Mice ; Trypanosoma/*immunology/pathogenicity ; Trypanosomiasis, African/epidemiology/history/*immunology/parasitology/transmission ; Tsetse Flies/parasitology ; }, abstract = {Since first identified, human African trypanosomiasis (HAT) or sleeping sickness has been described as invariably fatal. Increasing data however argue that infection by Trypanosoma brucei gambiense, the causative agent of HAT, results in a wide range of outcomes in its human host and importantly that a number of subjects in endemic areas are apparently able to control infection to low levels, undetectable by the classical parasitological tests used in the field. Thus, trypanotolerance seems to occur in humans as has already been described in cattle or in the rodent experimental models of infection. This review focuses on the description of the diversity of outcomes resulting from T. b. gambiense in humans and on the host factors involved. The consequences/impacts on HAT epidemiology resulting from this diversity are also discussed with regard to implementing sustainable HAT control strategies.}, }
@article {pmid21365615, year = {2011}, author = {Nagy, D and Tömöry, G and Csányi, B and Bogácsi-Szabó, E and Czibula, &#xc1; and Priskin, K and Bede, O and Bartosiewicz, L and Downes, CS and Raskó, I}, title = {Comparison of lactase persistence polymorphism in ancient and present-day Hungarian populations.}, journal = {American journal of physical anthropology}, volume = {145}, number = {2}, pages = {262-269}, doi = {10.1002/ajpa.21490}, pmid = {21365615}, issn = {1096-8644}, mesh = {Anthropology, Physical ; Bone and Bones/physiology ; Cemeteries ; DNA/analysis/genetics ; DNA, Mitochondrial/analysis/genetics ; Gene Frequency ; Genotype ; Haplotypes ; History, Medieval ; Humans ; Hungary ; Lactase/*genetics ; Lactose Intolerance/ethnology/genetics/*history ; Polymorphism, Single Nucleotide ; }, abstract = {The prevalence of adult-type hypolactasia varies ethnically and geographically among populations. A C/T-13910 single nucleotide polymorphism (SNP) upstream of the lactase gene is known to be associated with lactase non-persistence in Europeans. The aim of this study was to determine the prevalence of lactase persistent and non-persistent genotypes in current Hungarian-speaking populations and in ancient bone samples of classical conquerors and commoners from the 10th-11th centuries from the Carpathian basin; 181 present-day Hungarian, 65 present-day Sekler, and 23 ancient samples were successfully genotyped for the C/T-13910 SNP by the dCAPS PCR-RFLP method. Additional mitochondrial DNA testing was also carried out. In ancient Hungarians, the T-13910 allele was present only in 11% of the population, and exclusively in commoners of European mitochondrial haplogroups who may have been of pre-Hungarian indigenous ancestry. This is despite animal domestication and dairy products having been introduced into the Carpathian basin early in the Neolithic Age. This anomaly may be explained by the Hungarian use of fermented milk products, their greater consumption of ruminant meat than milk, cultural differences, or by their having other lactase-regulating genetic polymorphisms than C/T-13910. The low prevalence of lactase persistence provides additional information on the Asian origin of Hungarians. Present-day Hungarians have been assimilated with the surrounding European populations, since they do not differ significantly from the neighboring populations in their possession of mtDNA and C/T-13910 variants.}, }
@article {pmid21302269, year = {2011}, author = {Bherer, C and Labuda, D and Roy-Gagnon, MH and Houde, L and Tremblay, M and Vézina, H}, title = {Admixed ancestry and stratification of Quebec regional populations.}, journal = {American journal of physical anthropology}, volume = {144}, number = {3}, pages = {432-441}, doi = {10.1002/ajpa.21424}, pmid = {21302269}, issn = {1096-8644}, support = {//Canadian Institutes of Health Research/Canada ; }, mesh = {Analysis of Variance ; *Emigrants and Immigrants ; Founder Effect ; *Genealogy and Heraldry ; Humans ; Marriage ; *Population Dynamics ; Principal Component Analysis ; Quebec ; }, abstract = {Population stratification results from unequal, nonrandom genetic contribution of ancestors and should be reflected in the underlying genealogies. In Quebec, the distribution of Mendelian diseases points to local founder effects suggesting stratification of the contemporary French Canadian gene pool. Here we characterize the population structure through the analysis of the genetic contribution of 7,798 immigrant founders identified in the genealogies of 2,221 subjects partitioned in eight regions. In all but one region, about 90% of gene pools were contributed by early French founders. In the eastern region where this contribution was 76%, we observed higher contributions of Acadians, British and American Loyalists. To detect population stratification from genealogical data, we propose an approach based on principal component analysis (PCA) of immigrant founders' genetic contributions. This analysis was compared with a multidimensional scaling of pairwise kinship coefficients. Both methods showed evidence of a distinct identity of the northeastern and eastern regions and stratification of the regional populations correlated with geographical location along the St-Lawrence River. In addition, we observed a West-East decreasing gradient of diversity. Analysis of PC-correlated founders illustrates the differential impact of early versus latter founders consistent with specific regional genetic patterns. These results highlight the importance of considering the geographic origin of samples in the design of genetic epidemiology studies conducted in Quebec. Moreover, our results demonstrate that the study of deep ascending genealogies can accurately reveal population structure.}, }
@article {pmid21300313, year = {2011}, author = {Hodge, J}, title = {Darwinism after Mendelism: the case of Sewall Wright's intellectual synthesis in his shifting balance theory of evolution (1931).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {42}, number = {1}, pages = {30-39}, doi = {10.1016/j.shpsc.2010.11.008}, pmid = {21300313}, issn = {1879-2499}, mesh = {*Biological Evolution ; Biology/history ; *Historiography ; History, 20th Century ; Metaphysics/*history ; *Selection, Genetic ; United States ; }, abstract = {Historians of science have long been agreeing: what many textbooks of evolutionary biology say, about the histories of Darwinism and the New Synthesis, is just too simple to do justice to the complexities revealed to critical scholarship and historiography. There is no current consensus, however, on what grand narratives should replace those textbook histories. The present paper does not offer to contribute directly to any grand, consensual, narrational goals; but it does seek to do so indirectly by showing how, in just one individual case, details of intellectual biography connect with big picture issues. To this end, I examine here how very diverse scientific and metaphysical commitments were integrated in Sewall Wright's own personal synthesis of biology and philosophy. Taking as the decisive text the short final section of Wright's long 1931 paper on 'Evolution in Mendelian populations,' I examine how his shifting balance theory (SBT) related to his optimum breeding strategy research, his physiological genetics, his general theory of homogenising and heterogenesing causation and his panpsychist view of mind and matter; and I discuss how understanding these relations can clarify Wright's place in the longue durée of evolutionary thought.}, }
@article {pmid21172873, year = {2011}, author = {Evavold, BD and Allen, PM}, title = {Pillars article: separation of IL-4 production from Th cell proliferation by an altered T cell receptor ligand. Science. 1991. 252: 1308-1310.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {186}, number = {1}, pages = {9-12}, pmid = {21172873}, issn = {1550-6606}, mesh = {Amino Acid Substitution/genetics/immunology ; Animals ; *Cell Proliferation ; Dose-Response Relationship, Immunologic ; History, 20th Century ; Interleukin-4/biosynthesis/*history/metabolism ; Ligands ; Mice ; Peptide Fragments/biosynthesis/*history/metabolism ; Receptors, Antigen, T-Cell/*history/metabolism ; T-Lymphocytes, Helper-Inducer/*cytology/*immunology/metabolism ; }, }
@article {pmid21166799, year = {2010}, author = {Westerlund, JF and Fairbanks, DJ}, title = {Gregor Mendel's classic paper and the nature of science in genetics courses.}, journal = {Hereditas}, volume = {147}, number = {6}, pages = {293-303}, doi = {10.1111/j.1601-5223.2010.02199.x}, pmid = {21166799}, issn = {1601-5223}, mesh = {Genetic Techniques ; Genetics/*education/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Educational ; Philosophy/history ; Science/*education/history ; }, abstract = {The discoveries of Gregor Mendel, as described by Mendel in his 1866 paper Versuche uber Pflanzen-Hybriden (Experiments on plant hybrids), can be used in undergraduate genetics and biology courses to engage students about specific nature of science characteristics and their relationship to four of his major contributions to genetics. The use of primary source literature as an instructional tool to enhance genetics students' understanding of the nature of science helps students more clearly understand how scientists work and how the science of genetics has evolved as a discipline. We offer a historical background of how the nature of science developed as a concept and show how Mendel's investigations of heredity can enrich biology and genetics courses by exemplifying the nature of science.}, }
@article {pmid21104896, year = {2010}, author = {Percy, AK and Neul, JL and Glaze, DG and Motil, KJ and Skinner, SA and Khwaja, O and Lee, HS and Lane, JB and Barrish, JO and Annese, F and McNair, L and Graham, J and Barnes, K}, title = {Rett syndrome diagnostic criteria: lessons from the Natural History Study.}, journal = {Annals of neurology}, volume = {68}, number = {6}, pages = {951-955}, pmid = {21104896}, issn = {1531-8249}, support = {U54 HD061222-06/HD/NICHD NIH HHS/United States ; P30 HD038985/HD/NICHD NIH HHS/United States ; P30 HD038985-07/HD/NICHD NIH HHS/United States ; U54 HD061222/HD/NICHD NIH HHS/United States ; M01 RR000032/RR/NCRR NIH HHS/United States ; HD38985/HD/NICHD NIH HHS/United States ; M01 RR000032-460784/RR/NCRR NIH HHS/United States ; U54 RR019478/RR/NCRR NIH HHS/United States ; P30 HD038985-09/HD/NICHD NIH HHS/United States ; U54 HD061222-065977/HD/NICHD NIH HHS/United States ; }, mesh = {Female ; History, 20th Century ; Humans ; Male ; Methyl-CpG-Binding Protein 2/*genetics ; Mutation/*genetics ; Natural History/methods/standards ; Rett Syndrome/classification/*diagnosis/*genetics/history ; }, abstract = {Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria.}, }
@article {pmid21043780, year = {2010}, author = {Presgraves, DC}, title = {Darwin and the origin of interspecific genetic incompatibilities.}, journal = {The American naturalist}, volume = {176 Suppl 1}, number = {}, pages = {S45-60}, doi = {10.1086/657058}, pmid = {21043780}, issn = {1537-5323}, support = {GM79543/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Biology/*history ; *Crosses, Genetic ; *Genetic Speciation ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Hybridization, Genetic ; Infertility/*genetics ; Plants/genetics ; Selection, Genetic ; Species Specificity ; }, abstract = {Darwin's Origin of Species is often criticized for having little to say about speciation. The complaint focuses in particular on Darwin's supposed failure to explain the evolution of the sterility and inviability of interspecific hybrids. But in his chapter on hybridism, Darwin, working without genetics, got as close to the modern understanding of the evolution of hybrid sterility and inviability as might reasonably be expected. In particular, after surveying what was then known about interspecific crosses and the resulting hybrids, he established two facts that, while now taken for granted, were at the time radical. First, the sterility barriers between species are neither specially endowed by a creator nor directly favored by natural selection but rather evolve as incidental by-products of interspecific divergence. Second, the sterility of species hybrids results when their development is "disturbed by two organizations having been compounded into one." Bateson, Dobzhansky, and Muller later put Mendelian detail to Darwin's inference that the species-specific factors controlling development (i.e., genes) are sometimes incompatible. In this article, I highlight the major developments in our understanding of these interspecific genetic incompatibilities--from Darwin to Muller to modern theory--and review comparative, genetic, and molecular rules that characterize the evolution of hybrid sterility and inviability.}, }
@article {pmid20973049, year = {2010}, author = {Mills, JL}, title = {Malformations in infants of diabetic mothers. Teratology 25:385-94. 1982.}, journal = {Birth defects research. Part A, Clinical and molecular teratology}, volume = {88}, number = {10}, pages = {769-778}, pmid = {20973049}, issn = {1542-0760}, support = {Z99 HD999999/ImNIH/Intramural NIH HHS/United States ; }, mesh = {Congenital Abnormalities/*embryology/*history ; Diabetes, Gestational/history/metabolism ; Female ; History, 20th Century ; Humans ; Infant ; Pregnancy ; Pregnancy in Diabetics/history ; Teratology ; }, abstract = {Maternal insulin-dependent diabetes has long been associated with congenital malformations. As other causes of mortality and morbidity have been eliminated or reduced, malformations have become increasingly prominent. Although there is not universal agreement, the great majority of investigators find a two- to threefold increase in malformations in infants of insulin-dependent diabetic mothers. This increase is not seen in infants of gestational diabetics. It probably is not present in women whose diabetes can be controlled by diet or oral hypoglycemic agents. The risk does not appear to be primarily genetic since diabetic fathers do not have an increased number of malformed offspring. Most studies show a generalized increase in malformations involving multiple organ systems. Multiple malformations seem to be more common in diabetic than non-diabetic infants. Caudal regression has the strongest association with diabetes, occurring roughly 200 times more frequently in infants of diabetic mothers than in other infants. The teratogenic mechanism in diabetes is not known. Hyperglycemia may be important but human studies focusing on the period of organogenesis are lacking. Hypoglycemia has also been suggested based mainly on animal experiments. Insulin appears unlikely. Numerous other factors including vascular disease, hypoxia, ketone and amino acid abnormalities, glycosylation of proteins, or hormone imbalances could be teratogenic. None has been studied in sufficient detail to make a judgment. A large-scale prospective study is required to determine early fetal loss rates, correlate metabolic status during organogenesis with outcome, and assess the effect of diabetic control on malformation rates.}, }
@article {pmid20962265, year = {2010}, author = {Shaw, JP and Utz, PJ and Durand, DB and Toole, JJ and Emmel, EA and Crabtree, GR}, title = {Identification of a putative regulator of early T cell activation genes. Science. 1988. 241: 202-205.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {185}, number = {9}, pages = {4972-4975}, pmid = {20962265}, issn = {1550-6606}, mesh = {Allergy and Immunology/*history ; Animals ; Gene Expression Regulation/*immunology ; History, 20th Century ; Humans ; Lymphocyte Activation/*genetics/*immunology ; T-Lymphocytes/*immunology ; }, }
@article {pmid20879059, year = {2010}, author = {Kim, KW and Lee, JH and Lee, MG and Kim, KH and Sohn, MH and Kim, KE}, title = {Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.}, journal = {Yonsei medical journal}, volume = {51}, number = {6}, pages = {912-917}, pmid = {20879059}, issn = {1976-2437}, mesh = {Adolescent ; Asthma/*epidemiology/*genetics ; Case-Control Studies ; Child ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Female ; *Genetic Predisposition to Disease ; Genotype ; Haplotypes ; History, Ancient ; Humans ; Male ; *Mutation ; Republic of Korea ; }, abstract = {PURPOSE: Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic conditions, such as chronic pancreatitis or congenital bilateral absence of the vas deferens. However, respiratory disease is considered typical for the multi system disorder, cystic fibrosis, and is the major cause of morbidity and mortality. The purpose of this study was to evaluate the potential effects of CFTR gene mutations in Korean children with asthma.<br><br>MATERIALS AND METHODS: We selected 14 mutations identified in Korea and each of the 48 children with and without asthma were genotyped for the case-control study.<br><br>RESULTS: No significant differences were found in genotype and allele frequencies of the 9 polymorphisms observed between the non-asthma and asthma groups. In a haplotype determination based on a Bayesian algorithm, 8 haplotypes were assembled in the 98 individuals tested. However, we also did not find any significant differences in haplotype frequencies between the non-asthma and asthma groups.<br><br>CONCLUSION: We have concluded that this study did not show any evidence in support of providing that CFTR genetic variations significantly contribute to the susceptibility of asthma in Korean children.}, }
@article {pmid20859958, year = {2010}, author = {Armirotti, A and Damonte, G}, title = {Achievements and perspectives of top-down proteomics.}, journal = {Proteomics}, volume = {10}, number = {20}, pages = {3566-3576}, doi = {10.1002/pmic.201000245}, pmid = {20859958}, issn = {1615-9861}, mesh = {Amino Acid Sequence ; History, 21st Century ; Mass Spectrometry/instrumentation/*methods ; Molecular Sequence Data ; Proteins/*analysis/genetics/isolation &amp; purification ; Proteomics/history/instrumentation/*methods ; }, abstract = {Over the last years, top-down (TD) MS has gained a remarkable space in proteomics, rapidly trespassing the limit between a promising approach and a solid, established technique. Several research groups worldwide have implemented TD analysis in their routine work on proteomics, deriving structural information on proteins with the level of accuracy that is impossible to achieve with classical bottom-up approaches. Complete maps of PTMs and assessment of single aminoacid polymorphisms are only a few of the results that can be obtained with this technique. Despite some existing technical and economical limitations, TD analysis is at present the most powerful instrument for MS-based proteomics and its implementation in routine workflow is a rapidly approaching turning point in proteomics. In this review article, the state-of-the-art of TD approach is described along with its major advantages and drawbacks and the most recent trends in TD analysis are discussed. References for all the covered topics are reported in the text, with the aim to support both newcomers and mass spectrometrists already introduced to TD proteomics.}, }
@article {pmid20706773, year = {2010}, author = {Gaudart, J and Ghassani, M and Mintsa, J and Rachdi, M and Waku, J and Demongeot, J}, title = {Demography and diffusion in epidemics: malaria and black death spread.}, journal = {Acta biotheoretica}, volume = {58}, number = {2-3}, pages = {277-305}, doi = {10.1007/s10441-010-9103-z}, pmid = {20706773}, issn = {1572-8358}, mesh = {Animals ; Disease Vectors ; *Epidemics/history/statistics &amp; numerical data ; Genetic Drift ; History, Medieval ; Humans ; Malaria/*epidemiology/transmission ; Mali/epidemiology ; *Models, Biological ; Models, Statistical ; Plague/*epidemiology/history/transmission ; Population Dynamics ; Virus Diseases/epidemiology/virology ; }, abstract = {The classical models of epidemics dynamics by Ross and McKendrick have to be revisited in order to incorporate elements coming from the demography (fecundity, mortality and migration) both of host and vector populations and from the diffusion and mutation of infectious agents. The classical approach is indeed dealing with populations supposed to be constant during the epidemic wave, but the presently observed pandemics show duration of their spread during years imposing to take into account the host and vector population changes as well as the transient or permanent migration and diffusion of hosts (susceptible or infected), as well as vectors and infectious agents. Two examples are presented, one concerning the malaria in Mali and the other the plague at the middle-age.}, }
@article {pmid20665229, year = {2010}, author = {Onaga, L}, title = {Toyama Kametaro and Vernon Kellogg: silkworm inheritance experiments in Japan, Siam, and the United States, 1900-1912.}, journal = {Journal of the history of biology}, volume = {43}, number = {2}, pages = {215-264}, pmid = {20665229}, issn = {0022-5010}, mesh = {Agriculture/*history ; Animals ; Bombyx/*genetics ; Breeding ; Entomology/*history ; Genetic Research/*history ; History, 20th Century ; Japan ; Selection, Genetic ; United States ; }, abstract = {Japanese agricultural scientist Toyama Kametaro's report about the Mendelian inheritance of silkworm cocoon color in Studies on the Hybridology of Insects (1906) spurred changes in Japanese silk production and thrust Toyama and his work into a scholarly exchange with American entomologist Vernon Kellogg. Toyama's work, based on research conducted in Japan and Siam, came under international scrutiny at a time when analyses of inheritance flourished after the "rediscovery" of Mendel's laws of heredity in 1900. The hybrid silkworm studies in Asia attracted the attention of Kellogg, who was concerned with how experimental biology would be used to study the causes of natural selection. He challenged Toyama's conclusions that Mendelism alone could explain the inheritance patterns of silkworm characters such as cocoon color because they had been subject to hundreds of years of artificial selection, or breeding. This examination of the intersection of Japanese sericulture and American entomology probes how practical differences in scientific interests, societal responsibilities, and silkworm materiality were negotiated throughout the processes of legitimating Mendelian genetics on opposite sides of the Pacific. The ways in which Toyama and Kellogg assigned importance to certain silkworm properties show how conflicting intellectual orientations arose in studies of the same organism. Contestation about Mendelism took place not just on a theoretical level, but the debate was fashioned through each scientist's rationale about the categorization of silkworm breeds and races and what counted as "natural". This further mediated the acceptability of the silkworm not as an experimental organism, but as an appropriately "natural" insect with which to demonstrate laws of inheritance. All these shed light on the challenges that came along with the use of agricultural animals to convincingly articulate new biological principles.}, }
@article {pmid20660360, year = {2010}, author = {Bevan, MJ}, title = {Cross-priming for a secondary cytotoxic response to minor H antigens with H-2 congenic cells which do not cross-react in the cytotoxic assay. 1976.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {185}, number = {3}, pages = {1361-1366}, pmid = {20660360}, issn = {1550-6606}, mesh = {Animals ; Antigen Presentation/genetics/immunology ; Cross Reactions/genetics/immunology ; *Cross-Priming/genetics ; Cytotoxicity Tests, Immunologic/*history/methods ; *Cytotoxicity, Immunologic/genetics ; H-2 Antigens/genetics/*history ; History, 20th Century ; Lymphocyte Transfusion/history ; Mice ; Mice, Congenic ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mice, Inbred DBA ; Minor Histocompatibility Antigens/genetics/*history ; }, }
@article {pmid20589189, year = {2010}, author = {DeWan, AT}, title = {Five classic articles in genetic epidemiology.}, journal = {The Yale journal of biology and medicine}, volume = {83}, number = {2}, pages = {87-90}, pmid = {20589189}, issn = {1551-4056}, mesh = {Genetic Linkage ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; Lymphotoxin-alpha/genetics ; Molecular Epidemiology/*history ; Myocardial Infarction/genetics ; Pedigree ; Polymorphism, Single Nucleotide ; Recombination, Genetic ; }, abstract = {The relatively new field of genetic epidemiology has witnessed some exciting leaps forward in our quest to understand the population and familial nature of genetic inheritance. We have witnessed the mapping of thousands of genetic loci contributing to both mendelian and complex diseases, and new high-throughput, low-cost sequencing technologies promise to uncover even more. Here I highlight five publications that have shaped how we think about and conduct the task of unraveling the genetic causes of disease on a population scale.}, }
@article {pmid20562267, year = {2010}, author = {Turner, CA and Mack, DH and Davis, MM}, title = {Pillars article: Blimp-1, a novel zinc finger-containing protein that can drive the maturation of B lymphocytes into immunoglobulin-secreting cells. 1994.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {185}, number = {1}, pages = {5-14}, doi = {10.4049/jimmunol.1090043}, pmid = {20562267}, issn = {1550-6606}, mesh = {Amino Acid Sequence ; Animals ; B-Lymphocytes/immunology/*metabolism ; Base Sequence ; Cell Differentiation/genetics/*immunology ; Cell Line, Tumor ; Cloning, Molecular ; History, 20th Century ; Immunoglobulins/biosynthesis/genetics/*history ; Lymphocyte Activation/genetics/immunology ; Mice ; Molecular Sequence Data ; Positive Regulatory Domain I-Binding Factor 1 ; Transcription Factors/*history/physiology ; Transfection/history ; *Zinc Fingers/genetics/immunology ; }, }
@article {pmid20545437, year = {2010}, author = {Ruiz-Saenz, J and Rodas, JD}, title = {Viruses, virophages, and their living nature.}, journal = {Acta virologica}, volume = {54}, number = {2}, pages = {85-90}, doi = {10.4149/av_2010_02_85}, pmid = {20545437}, issn = {0001-723X}, mesh = {Genome, Viral ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Mimiviridae/genetics ; *Virology/history ; Virus Physiological Phenomena ; *Viruses/genetics/pathogenicity ; }, abstract = {UNLABELLED: Over 100 years viruses have fascinated scientists around the world. Although biologists, chemists, physicians, veterinarians, and even physicists attempted to elucidate the nature of viruses, the question still remains "Are viruses alive?" Different theories have aimed at unifying our views of virology to provide an answer. However, the discovery of a mimivirus, its genome organization and replication cycle, in addition to the recently found virophage challenged the established frontier between viruses and parasitic cellular organisms. Consequently, the old controversy whether viruses are inert agents at the threshold of life or a different form of life was reignited. This review reopens the debate about the living nature of viruses from the classical concepts to the recent discoveries in order to rationally discuss our beliefs about the living or non-living character of viruses.<br><br>KEYWORDS: filterable agent; mimivirus; virophage.}, }
@article {pmid20504206, year = {2009}, author = {Cox, MP}, title = {Accuracy of molecular dating with the rho statistic: deviations from coalescent expectations under a range of demographic models. 2008.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {911-933}, doi = {10.3378/027.081.0631}, pmid = {20504206}, issn = {1534-6617}, mesh = {Bias ; Confidence Intervals ; DNA, Mitochondrial/*genetics ; *Data Interpretation, Statistical ; Databases, Genetic ; Demography ; Female ; Founder Effect ; Genetics, Population/*methods ; History, 21st Century ; Humans ; Models, Genetic ; Models, Statistical ; *Molecular Biology ; Molecular Epidemiology ; *Polymorphism, Genetic ; United States ; }, }
@article {pmid20504204, year = {2009}, author = {Pichler, I and Mueller, JC and Stefanov, SA and De Grandi, A and Volpato, CB and Pinggera, GK and Mayr, A and Ogriseg, M and Ploner, F and Meitinger, T and Pramstaller, PP}, title = {Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {875-898}, doi = {10.3378/027.081.0629}, pmid = {20504204}, issn = {1534-6617}, mesh = {Alu Elements ; *Chromosome Structures ; Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; Female ; Genetic Markers ; Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, 21st Century ; Humans ; Italy ; Male ; Microsatellite Repeats/genetics ; *Polymorphism, Genetic ; }, }
@article {pmid20504202, year = {2009}, author = {Soria, JM and Almasy, L and Souto, JC and Sabaterlleal, M and Fontcuberta, J and Blangero, J}, title = {The F7 gene and clotting factor VII levels: dissection of a human quantitative trait locus. 2005.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {853-867}, doi = {10.3378/027.081.0627}, pmid = {20504202}, issn = {1534-6617}, support = {R01 HL070751/HL/NHLBI NIH HHS/United States ; }, mesh = {Blood Coagulation/*genetics ; Cardiovascular Diseases/genetics/history ; Factor VII/*genetics ; Genetic Markers ; Genetic Variation ; Genotype ; Hemostasis/genetics ; History, 21st Century ; Humans ; Linkage Disequilibrium ; Pedigree ; Polymorphism, Genetic ; Quantitative Trait Loci/*genetics ; Risk Factors ; Thrombin/genetics ; }, }
@article {pmid20504200, year = {2009}, author = {Blangero, J and Göring, HH and Kent, JW and Williams, JT and Peterson, CP and Almasy, L and Dyer, TD}, title = {Quantitative trait nucleotide analysis using Bayesian model selection. 2005.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {829-847}, doi = {10.3378/027.081.0625}, pmid = {20504200}, issn = {1534-6617}, mesh = {Algorithms ; *Bayes Theorem ; Databases, Genetic ; Genetic Markers ; Genotype ; History, 21st Century ; Humans ; Linkage Disequilibrium ; Phenotype ; Polymorphism, Genetic/*genetics ; Polymorphism, Single Nucleotide ; *Quantitative Trait Loci ; Regression Analysis ; }, }
@article {pmid20504198, year = {2009}, author = {Eller, E and Hawks, J and Relethford, JH}, title = {Local extinction and recolonization, species effective population size, and modern human origins. 2004.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {805-824}, doi = {10.3378/027.081.0623}, pmid = {20504198}, issn = {1534-6617}, mesh = {Anthropology, Cultural/history ; *Biological Evolution ; Consanguinity ; *Extinction, Biological ; Founder Effect ; Genetic Variation ; Genetics, Population/*history ; History, 21st Century ; Humans ; Models, Genetic ; *Population Density ; }, }
@article {pmid20504196, year = {2009}, author = {Long, JC and Kittles, RA}, title = {Human genetic diversity and the nonexistence of biological races. 2003.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {777-798}, doi = {10.3378/027.081.0621}, pmid = {20504196}, issn = {1534-6617}, mesh = {Alleles ; Dinucleotide Repeats ; Gene Frequency ; *Genetic Variation ; Genetics, Population/*history/statistics &amp; numerical data ; Genotype ; History, 21st Century ; Homozygote ; Humans ; Models, Genetic ; Models, Statistical ; Racial Groups/classification/*genetics ; United States ; }, }
@article {pmid20504193, year = {2009}, author = {Eller, E}, title = {Effects of ascertainment bias on recovering human demographic history. 2001.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {735-751}, doi = {10.3378/027.081.0618}, pmid = {20504193}, issn = {1534-6617}, mesh = {*Bias ; Cephalometry/history ; Computer Simulation/history ; Demography/*history ; Genetic Markers ; *Genetics, Population ; History, 21st Century ; Humans ; Microsatellite Repeats/*genetics ; Polymorphism, Restriction Fragment Length/*genetics ; Polymorphism, Single Nucleotide/*genetics ; Principal Component Analysis ; Statistics as Topic ; }, }
@article {pmid20504191, year = {2009}, author = {Terwilliger, JD and Göring, HH}, title = {Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. 2000.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {663-728}, doi = {10.3378/027.081.0615}, pmid = {20504191}, issn = {1534-6617}, mesh = {Algorithms ; Chromosome Mapping/*history/methods ; Gene Frequency ; Genotype ; History, 21st Century ; Humans ; Linkage Disequilibrium ; *Models, Genetic ; Mutation ; Phenotype ; Polymorphism, Genetic ; *Research Design ; Software ; }, }
@article {pmid20504189, year = {2009}, author = {Heyer, E}, title = {One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada). 1999.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {645-655}, doi = {10.3378/027.081.0613}, pmid = {20504189}, issn = {1534-6617}, mesh = {Algorithms ; Databases, Genetic ; *Founder Effect ; *Gene Flow ; *Genetic Drift ; Genetic Markers ; Genetics, Population/*history/statistics &amp; numerical data ; History, 20th Century ; Humans ; *Models, Genetic ; Probability ; Quebec ; }, }
@article {pmid20504187, year = {2009}, author = {Chikhi, L and Destro-Bisol, G and Pascali, V and Baravelli, V and Dobosz, M and Barbujani, G}, title = {Clinal variation in the nuclear DNA of Europeans. 1998.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {625-638}, doi = {10.3378/027.081.0611}, pmid = {20504187}, issn = {1534-6617}, mesh = {DNA/*genetics ; DNA, Mitochondrial/genetics ; Europe ; *Gene Frequency ; Genetic Markers ; *Genetic Variation ; Genetics, Population/*history ; *Genomic Structural Variation ; History, 20th Century ; Humans ; Statistics as Topic ; }, }
@article {pmid20504185, year = {2009}, author = {Holden, C and Mace, R}, title = {Phylogenetic analysis of the evolution of lactose digestion in adults. 1997.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {597-619}, doi = {10.3378/027.081.0609}, pmid = {20504185}, issn = {1534-6617}, mesh = {*Adaptation, Physiological ; Adult ; Animal Husbandry/history ; Animals ; Cultural Evolution/history ; History, 20th Century ; Humans ; Lactose/*metabolism ; Lactose Intolerance/*genetics/metabolism ; Milk ; *Phylogeny ; Statistics as Topic ; Vitamin D/metabolism ; }, }
@article {pmid20504183, year = {2009}, author = {Konigsberg, LW and Ousley, SD}, title = {Multivariate quantitative genetics of anthropometric traits from the Boas data. 1995.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {579-594}, doi = {10.3378/027.081.0607}, pmid = {20504183}, issn = {1534-6617}, mesh = {Anthropometry/*history ; Bayes Theorem ; Biological Evolution ; Female ; Genetic Variation ; Genetics, Population/*statistics &amp; numerical data ; History, 20th Century ; Humans ; Indians, North American/genetics/*history ; Male ; *Models, Genetic ; Multivariate Analysis ; Pedigree ; *Phenotype ; Statistics as Topic ; }, }
@article {pmid20504179, year = {2009}, author = {Blangero, J}, title = {Statistical genetic approaches to human adaptability. 1993.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {523-546}, doi = {10.3378/027.081.0603}, pmid = {20504179}, issn = {1534-6617}, mesh = {Adaptation, Physiological/*genetics ; Biological Evolution ; *Biostatistics ; *Environment ; Genetic Variation ; Genetics, Population ; *Genotype ; History, 20th Century ; Humans ; *Models, Genetic ; Phenotype ; }, }
@article {pmid20504178, year = {2009}, author = {Wallace, DC and Torroni, A}, title = {American Indian prehistory as written in the mitochondrial DNA: a review. 1992.}, journal = {Human biology}, volume = {81}, number = {5-6}, pages = {509-521}, doi = {10.3378/027.081.0602}, pmid = {20504178}, issn = {1534-6617}, mesh = {American Indian or Alaska Native/genetics/*history ; DNA, Mitochondrial/history ; Demography/history ; Emigration and Immigration/history ; Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, 20th Century ; History, Ancient ; Humans ; Phylogeny ; Polymorphism, Restriction Fragment Length ; }, }
@article {pmid20494128, year = {2010}, author = {Kere, J}, title = {Genetics of complex disorders.}, journal = {Biochemical and biophysical research communications}, volume = {396}, number = {1}, pages = {143-146}, doi = {10.1016/j.bbrc.2010.04.013}, pmid = {20494128}, issn = {1090-2104}, mesh = {Chromosomes, Human/genetics ; Cloning, Molecular ; Genetic Diseases, Inborn/genetics/*history ; Genetic Linkage ; Genetic Markers ; Genetic Predisposition to Disease/*history ; Genetics, Medical/*history ; Genome-Wide Association Study ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The success stories of identifying genes in Mendelian disorders have stimulated research that aims at identifying the genetic determinants in complex disorders, in which both genetics, environment and chance affect the pathogenetic processes. This review summarizes the brief history and lessons learned from genetic analysis of complex disorders and outlines some landscapes ahead for medical research.}, }
@article {pmid20439277, year = {2010}, author = {Wolf, JB and Lindell, J and Backström, N}, title = {Speciation genetics: current status and evolving approaches.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {365}, number = {1547}, pages = {1717-1733}, pmid = {20439277}, issn = {1471-2970}, mesh = {Animals ; Biological Evolution ; Ecology/history ; Female ; Gene Expression ; Gene Flow ; Genetic Association Studies ; *Genetic Speciation ; Genetic Variation ; Genetics/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Male ; Mating Preference, Animal ; Mutation ; Recombination, Genetic ; }, abstract = {The view of species as entities subjected to natural selection and amenable to change put forth by Charles Darwin and Alfred Wallace laid the conceptual foundation for understanding speciation. Initially marred by a rudimental understanding of hereditary principles, evolutionists gained appreciation of the mechanistic underpinnings of speciation following the merger of Mendelian genetic principles with Darwinian evolution. Only recently have we entered an era where deciphering the molecular basis of speciation is within reach. Much focus has been devoted to the genetic basis of intrinsic postzygotic isolation in model organisms and several hybrid incompatibility genes have been successfully identified. However, concomitant with the recent technological advancements in genome analysis and a newfound interest in the role of ecology in the differentiation process, speciation genetic research is becoming increasingly open to non-model organisms. This development will expand speciation research beyond the traditional boundaries and unveil the genetic basis of speciation from manifold perspectives and at various stages of the splitting process. This review aims at providing an extensive overview of speciation genetics. Starting from key historical developments and core concepts of speciation genetics, we focus much of our attention on evolving approaches and introduce promising methodological approaches for future research venues.}, }
@article {pmid20410496, year = {2010}, author = {Koller, BH and Marrack, P and Kappler, JW and Smithies, O}, title = {Normal development of mice deficient in beta 2M, MHC class I proteins, and CD8+ T cells. 1990.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {184}, number = {9}, pages = {4592-4595}, pmid = {20410496}, issn = {1550-6606}, support = {R01 GM020069/GM/NIGMS NIH HHS/United States ; R01 HL037001/HL/NHLBI NIH HHS/United States ; }, mesh = {Animals ; CD8-Positive T-Lymphocytes/*cytology/*immunology/metabolism ; Cell Differentiation/genetics/*immunology ; Cell Line ; Female ; H-2 Antigens/*genetics ; Histocompatibility Antigen H-2D ; Histocompatibility Antigens Class I/*genetics ; History, 20th Century ; Lymphocyte Count ; Male ; Mice ; Mice, Inbred C57BL ; Mutant Chimeric Proteins/deficiency/genetics ; Thymus Gland/*cytology/embryology/immunology ; Tumor Necrosis Factor Ligand Superfamily Member 15/*deficiency/genetics ; beta 2-Microglobulin/*deficiency/genetics ; }, }
@article {pmid20410495, year = {2010}, author = {Zijlstra, M and Bix, M and Simister, NE and Loring, JM and Raulet, DH and Jaenisch, R}, title = {Beta 2-microglobulin deficient mice lack CD4-8+ cytolytic T cells. 1990.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {184}, number = {9}, pages = {4587-4591}, pmid = {20410495}, issn = {1550-6606}, support = {R01 AI035021/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; CD4 Antigens/*history/metabolism ; CD8 Antigens/biosynthesis/*history ; Cytotoxicity, Immunologic/genetics ; History, 20th Century ; Lymphopenia/genetics/*history/*immunology ; Mice ; Mice, Knockout ; T-Lymphocytes, Cytotoxic/*immunology/metabolism/pathology ; beta 2-Microglobulin/*deficiency/genetics/*history ; }, }
@article {pmid20409266, year = {2010}, author = {Koornneef, M and Meinke, D}, title = {The development of Arabidopsis as a model plant.}, journal = {The Plant journal : for cell and molecular biology}, volume = {61}, number = {6}, pages = {909-921}, doi = {10.1111/j.1365-313X.2009.04086.x}, pmid = {20409266}, issn = {1365-313X}, mesh = {Arabidopsis/*genetics ; *Chromosome Mapping ; Genetic Variation ; *Genome, Plant ; History, 20th Century ; History, 21st Century ; Mutation ; Phenotype ; Transformation, Genetic ; }, abstract = {Twenty-five years ago, Arabidopsis thaliana emerged as the model organism of choice for research in plant biology. A consensus was reached about the need to focus on a single organism to integrate the classical disciplines of plant science with the expanding fields of genetics and molecular biology. Ten years after publication of its genome sequence, Arabidopsis remains the standard reference plant for all of biology. We reflect here on the major advances and shared resources that led to the extraordinary growth of the Arabidopsis research community. We also underscore the importance of continuing to expand and refine our detailed knowledge of Arabidopsis while seeking to appreciate the remarkable diversity that characterizes the plant kingdom.}, }
@article {pmid20373671, year = {2010}, author = {Ropers, HH}, title = {Single gene disorders come into focus--again.}, journal = {Dialogues in clinical neuroscience}, volume = {12}, number = {1}, pages = {95-102}, pmid = {20373671}, issn = {1294-8322}, mesh = {Chromosome Mapping ; Genetic Diseases, Inborn/*diagnosis/*genetics ; Genetic Linkage ; *Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study/history/methods ; History, 21st Century ; Humans ; }, abstract = {In the early 1990s, when the second 5-year plan for the Human Genome Project-which requested more money than any previous research project in biology-was written, common disorders were presented as the future target of genome research. This was a clever move to ensure continued public support for this endeavor, which had been justified previously by the prospect that it would lead to the diagnosis, prevention, and therapy of severe, but mostly rare, Mendelian disorders. Today, more than 15 years later, after billions of dollars have been spent on genome-wide association studies (GWAS), very few major genetic risk factors for common diseases have been identified, and the enthusiasm for large GWAS is dwindling. At the same time, there is renewed interest for studying single gene disorders, which are now considered by some as a better clue to the understanding of common diseases. While this is probably true, Mendelian disorders are also important in their own right, since they must be far more common than generally thought. As discussed here, various efficient strategies exist for the elucidation of single gene defects, and their systematic application in combination with novel genome partitioning and massive parallel sequencing techniques, will have far-reaching implications for health care.}, }
@article {pmid20358398, year = {2010}, author = {Leve, LD and Neiderhiser, JM and Scaramella, LV and Reiss, D}, title = {The early growth and development study: using the prospective adoption design to examine genotype-environment interplay. 2008.}, journal = {Behavior genetics}, volume = {40}, number = {3}, pages = {306-314}, pmid = {20358398}, issn = {1573-3297}, support = {R01 DA020585/DA/NIDA NIH HHS/United States ; R01 HD042608/HD/NICHD NIH HHS/United States ; R56 HD042608/HD/NICHD NIH HHS/United States ; }, mesh = {Adoption ; Adult ; Child ; Child, Preschool ; DNA/metabolism ; *Environment ; Genetics, Behavioral/*methods ; *Genotype ; History, 21st Century ; Humans ; Infant ; Phenotype ; Prospective Studies ; Research Design ; }, abstract = {The Early Growth and Development Study (EGDS) is a prospective adoption design consisting of 360 linked sets of birth parents, adoptive parents, and adopted children followed from 3 months postpartum through child age 7 years and an additional 200 linked sets for whom recruitment is underway. The EGDS brings together the study of genotype–environment correlation and Genotype × Environment (G × E) interaction to inform intervention development by examining mechanisms whereby family processes mediate or moderate the expression of genetic influences. Participants in the EGDS are recruited through domestic adoption agencies located throughout the United States of America. The assessments occur at 6-month intervals until child age 4-½ years and at ages 6 and 7, when the children are in their 1st and 2nd years of formal schooling (kindergarten and first grade). The data collection includes measures of child characteristics, birth and adoptive parent characteristics, adoptive parenting, prenatal exposure to drugs and maternal stress, birth parent and adopted child salivary cortisol reactivity, and DNA from all participants. The preliminary analyses suggest evidence for G×E interaction beginning in infancy. An intervention perspective on future developments in the field of behavioral genetics is described.}, }
@article {pmid20358397, year = {2010}, author = {McGue, M}, title = {The end of behavioral genetics? 2008.}, journal = {Behavior genetics}, volume = {40}, number = {3}, pages = {284-296}, doi = {10.1007/s10519-010-9354-0}, pmid = {20358397}, issn = {1573-3297}, mesh = {Adoption ; *Behavior ; Environment ; Eugenics ; Genetic Variation ; *Genetics ; *Genetics, Behavioral ; History, 21st Century ; Humans ; Models, Genetic ; Models, Psychological ; Twin Studies as Topic ; Twins ; }, }
@article {pmid20358396, year = {2010}, author = {Plomin, R and Haworth, CM and Davis, OS}, title = {Genetics of learning abilities and disabilities: recent developments from the UK and possible directions for research in China. 2008.}, journal = {Behavior genetics}, volume = {40}, number = {3}, pages = {297-305}, pmid = {20358396}, issn = {1573-3297}, support = {G0500079/MRC_/Medical Research Council/United Kingdom ; 075492/WT_/Wellcome Trust/United Kingdom ; G19/2/MRC_/Medical Research Council/United Kingdom ; R01 HD049861/HD/NICHD NIH HHS/United States ; R01 HD044454/HD/NICHD NIH HHS/United States ; R01 HD046167/HD/NICHD NIH HHS/United States ; /WT_/Wellcome Trust/United Kingdom ; G0500079(73692)/MRC_/Medical Research Council/United Kingdom ; }, mesh = {China ; Environment ; Genetic Techniques ; Genetics ; Genetics, Behavioral ; History, 21st Century ; Humans ; *Learning ; Learning Disabilities/*genetics ; Multivariate Analysis ; Twin Studies as Topic ; United Kingdom ; }, abstract = {It is exciting to witness the birth of behavioral genetics in China at a time when the field of genetics is exploding with new discoveries. We begin by discussing the potential for Chinese researchers to sidestep the false starts of previous genetic research on behavior and to become leaders rather than followers in behavioral genetics research. Using learning abilities and disabilities as an example, the rest of the paper considers ways in which quantitative genetic research can go beyond the nature versus nurture question to ask more interesting questions about genetics and psychology. These include the relationship between the normal and abnormal, longitudinal analyses of stability and change, and multivariate analyses of heterogeneity and homogeneity. The most important way to go beyond the rudimentary question about nature versus nurture is to identify the genes responsible for genetic influence on behavior. We briefly describe our quantitative genetic findings and genome-wide association studies of learning ability from the UK Twins Early Development Study (TEDS). It seems a safe prediction that the fast pace of genetic discoveries will continue and will increasingly affect the field of psychology in China and the rest of the world.}, }
@article {pmid20338531, year = {2010}, author = {Veuille, M}, title = {Darwin and sexual selection: One hundred years of misunderstanding.}, journal = {Comptes rendus biologies}, volume = {333}, number = {2}, pages = {145-156}, doi = {10.1016/j.crvi.2009.12.002}, pmid = {20338531}, issn = {1768-3238}, mesh = {Agonistic Behavior/physiology ; Animals ; Competitive Behavior/*physiology ; Courtship/psychology ; Female ; Gene Pool ; History, 19th Century ; Humans ; Male ; Mating Preference, Animal/*physiology ; Natural History/*history ; Selection, Genetic/*physiology ; Sex Characteristics ; Sexuality ; Sociobiology/*history ; }, abstract = {Darwin's book on the Descent of Man and Selection in Relation to Sex (1871) is often viewed as the continuation of The Origin of Species published 12 years earlier (1859), both because of the implicit parallelism between natural selection and sexual selection, and because Darwin himself presents the book as developing a subject (man) which he intentionally omitted in the Origin. But the Descent can also be viewed as the continuation of his book on Variation published three years earlier (1868). Firstly because Darwin's hypothesis of pangenesis links the selection process to the origin of variation through use and disuse, an idea underlying his speculations on the origin of moral sense in humans. Second because like the action of the horticulturist on his domestic crops, sexual selection exerted by one sex on the other sex can develop fancy traits that are not easily accounted for by their utility to the selected organism itself, such as artistic taste, pride, courage, and the morphological differences between human populations. These traits are difficult to reconcile with pangenesis. They add up to other contradictions of the book possibly resulting from Darwin's erroneous inference about the mechanism of inheritance, like those on the determination of sex-ratio, or the confusion between individual adaptation and the advantage to the species. These inconsistencies inaugurate a weakening of the Darwinian message, which will last 50 years after his death. They contributed to the neglect of sexual selection for a century. Darwin however maintained a logical distinction between evolutionary mechanisms and hereditary mechanisms, and an epistemological distinction between evolutionary theory and Pangenesis hypothesis. In the modern context of Mendelian genetics, Darwin's sexual selection retrospectively appears as luminous an idea in its pure principle as natural selection, even though the mechanisms governing the evolution of sexual choice in animals remain largely unresolved.}, }
@article {pmid20185083, year = {2010}, author = {Schulz, AW}, title = {It takes two: sexual strategies and game theory.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {41}, number = {1}, pages = {41-49}, doi = {10.1016/j.shpsc.2009.12.004}, pmid = {20185083}, issn = {1879-2499}, mesh = {*Biological Evolution ; Choice Behavior ; *Decision Making ; Female ; *Game Theory ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Psychology/*history ; Selection, Genetic ; Sexual Behavior/*history ; Sexuality/history ; Social Behavior ; Sociobiology/*history ; }, abstract = {David Buss's Sexual Strategies Theory is one of the major evolutionary psychological research programmes, but, as I try to show in this paper, its theoretical and empirical foundations cannot yet be seen to be fully compelling. This lack of cogency comes about due to Buss's failure to attend to the interactive nature of his subject matter, which leads him to overlook two classic and well known issues of game theoretic and evolutionary biological analysis. Firstly, Buss pays insufficient attention to the fact that, since mate choice is a cooperative decision, what is adaptive for the two sexes individually is irrelevant to the evolutionary explanation of our sexual strategies; instead, all that matters is what is adaptive given the choices made by the other sex. Secondly, Buss does not pay enough attention to the difference between polymorphic and monomorphic evolutionarily stable states in his attempt to empirically confirm his theory. Because of this, the data he presents and analyses are unable to show that natural selection is the most important element in the explanation of the origins of our sexual strategies. In this way, I try to make clear that, at least as things stand now, Buss has failed to provide compelling grounds for thinking that Sexual Strategies Theory can make a major contribution to human psychology.}, }
@article {pmid20185033, year = {2010}, author = {Herrera-Marschitz, M and Arbuthnott, G and Ungerstedt, U}, title = {The rotational model and microdialysis: Significance for dopamine signalling, clinical studies, and beyond.}, journal = {Progress in neurobiology}, volume = {90}, number = {2}, pages = {176-189}, doi = {10.1016/j.pneurobio.2009.01.005}, pmid = {20185033}, issn = {1873-5118}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {Animals ; *Disease Models, Animal ; Dopamine/*metabolism ; Dopamine Agents/pharmacology ; Gene Expression Regulation/drug effects/genetics ; History, 20th Century ; Humans ; Immunohistochemistry/history/methods ; Microdialysis/*methods ; Motor Activity/drug effects/physiology ; Neurochemistry/methods ; Oxidopamine/toxicity ; *Parkinson Disease/etiology/metabolism/physiopathology ; Rats ; Receptors, Dopamine/metabolism ; *Rotarod Performance Test ; Signal Transduction/*physiology ; }, abstract = {The detailed anatomy of the monoamine pathways of the rat by the students of Nils-Ake Hillarp provided the basis for a neurocircuitry targeting pharmacology. Further progress was achieved by the introduction of 6-hydroxydopamine as a tool for performing specific lesions, leading to the first stereotaxic mapping of the monoamine pathways in the rat brain by Urban Ungerstedt at the Karolinska Institutet, Stockholm, Sweden. Unilateral intracerebral injections with 6-hydroxydopamine led to the proposal of 'Rotational Behaviour', as a classical model for screening drugs useful for alleviating Parkinson's disease and other neuropathologies. The direction of the rotational behaviour induced by drugs administrated to lesioned rats reveals their mechanisms of action on dopamine synapses, as demonstrated when rotational behaviour was combined with microdialysis. The model was useful for proposing a role of dopamine receptors in the gating of the flow of information through different efferent pathways of the basal ganglia. It is established now that the coupling of dopamine receptors is regulated by a number of proteins acting as GTPases, the regulators of G-protein signalling (RGS) family. More than 20 RGS proteins have been identified, organised into subfamilies based on structural features and specificity for different G-protein subunits. These protein subfamilies represent alternative pathways gating the flow of information generated in the basal ganglia. Microdialysis has been developed as a general tool for studying tissue and organ chemistry, leading to a truly translational venture as microdialysis is brought into clinical use, monitoring energy metabolism following global or focal ischemia in the neurosurgery and general medicine scenario.}, }
@article {pmid20178768, year = {2010}, author = {O'Rourke, DH and Raff, JA}, title = {The human genetic history of the Americas: the final frontier.}, journal = {Current biology : CB}, volume = {20}, number = {4}, pages = {R202-7}, doi = {10.1016/j.cub.2009.11.051}, pmid = {20178768}, issn = {1879-0445}, mesh = {Archaeology ; *Biological Evolution ; *Cultural Evolution ; DNA, Mitochondrial/genetics ; *Emigration and Immigration ; Genetic Markers/genetics ; Haplotypes/genetics ; History, Ancient ; Humans ; Indians, North American/*genetics/*history ; Models, Theoretical ; Motor Activity/*genetics ; }, abstract = {The Americas, the last continents to be entered by modern humans, were colonized during the late Pleistocene via a land bridge across what is now the Bering strait. However, the timing and nature of the initial colonization events remain contentious. The Asian origin of the earliest Americans has been amply established by numerous classical marker studies of the mid-twentieth century. More recently, mtDNA sequences, Y-chromosome and autosomal marker studies have provided a higher level of resolution in confirming the Asian origin of indigenous Americans and provided more precise time estimates for the emergence of Native Americans. But these data raise many additional questions regarding source populations, number and size of colonizing groups and the points of entry to the Americas. Rapidly accumulating molecular data from populations throughout the Americas, increased use of demographic models to test alternative colonization scenarios, and evaluation of the concordance of archaeological, paleoenvironmental and genetic data provide optimism for a fuller understanding of the initial colonization of the Americas.}, }
@article {pmid20176585, year = {2010}, author = {Fisher, RA}, title = {Statistical methods in genetics. 1951.}, journal = {International journal of epidemiology}, volume = {39}, number = {2}, pages = {329-335}, doi = {10.1093/ije/dyp379}, pmid = {20176585}, issn = {1464-3685}, mesh = {Genetics/*history ; History, 20th Century ; Statistics as Topic/*history ; }, }
@article {pmid20164095, year = {2010}, author = {Bruni, AC and Bernardi, L and Colao, R and Rubino, E and Smirne, N and Frangipane, F and Terni, B and Curcio, SA and Mirabelli, M and Clodomiro, A and Di Lorenzo, R and Maletta, R and Anfossi, M and Gallo, M and Geracitano, S and Tomaino, C and Muraca, MG and Leotta, A and Lio, SG and Pinessi, L and Rainero, I and Sorbi, S and Nee, L and Milan, G and Pappatà, S and Postiglione, A and Abbamondi, N and Forloni, G and St George Hyslop, P and Rogaeva, E and Bugiani, O and Giaccone, G and Foncin, JF and Spillantini, MG and Puccio, G}, title = {Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.}, journal = {Neurology}, volume = {74}, number = {10}, pages = {798-806}, pmid = {20164095}, issn = {1526-632X}, support = {081864/WT_/Wellcome Trust/United Kingdom ; /MRC_/Medical Research Council/United Kingdom ; }, mesh = {Adult ; Alzheimer Disease/complications/diagnostic imaging/*genetics/history ; Brain/diagnostic imaging/pathology ; Cognition Disorders/etiology/genetics ; Family Health ; Female ; Fluorodeoxyglucose F18 ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Global Health ; History, 17th Century ; History, 21st Century ; Humans ; International Cooperation ; Italy ; Leucine/*genetics ; Male ; Memory Disorders/etiology/genetics ; Methionine/*genetics ; Middle Aged ; Mutation/*genetics ; Phenotype ; Positron-Emission Tomography ; Presenilin-1/*genetics ; }, abstract = {OBJECTIVE: Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from a remote common ancestor. Recently, several other EOFAD families with the same mutation have been described worldwide.<br><br>METHODS: We searched for a common founder of the PSEN1 Met146Leu mutation in families with different geographic origins by genealogic and molecular analyses. We also investigated the phenotypic variability at onset in a group of 50 patients (mean age at onset 40.0 +/- 4.8 years) by clinical, neuropsychological, and molecular methodologies.<br><br>RESULTS: EOFAD Met146Leu families from around the world resulted to be related and constitute a single kindred originating from Southern Italy before the 17th century. Phenotypic variability at onset is broad: 4 different clinical presentations may be recognized, 2 classic for AD (memory deficits and spatial and temporal disorientation), whereas the others are expressions of frontal impairment. The apathetic and dysexecutive subgroups could be related to orbital-medial prefrontal cortex and dorsolateral prefrontal cortex dysfunction.<br><br>CONCLUSIONS: Genealogic and molecular findings provided evidence that the PSEN1 Met146Leu families from around the world analyzed in this study are related and represent a single kindred originating from Southern Italy. The marked phenotypic variability might reflect early involvement by the pathologic process of different cortical areas. Although the clinical phenotype is quite variable, the neuropathologic and biochemical characteristics of the lesions account for neurodegenerative processes unmistakably of Alzheimer nature.}, }
@article {pmid20145434, year = {2010}, author = {Osler, W}, title = {Landmark publication from The American Journal of the Medical Sciences: Hereditary angio-neurotic oedema. 1888.}, journal = {The American journal of the medical sciences}, volume = {339}, number = {2}, pages = {175-178}, doi = {10.1097/MAJ.0b013e3181b2803f}, pmid = {20145434}, issn = {1538-2990}, mesh = {Adolescent ; Adult ; Aged ; Aged, 80 and over ; Angioedema/*genetics/*pathology ; Child ; Child, Preschool ; Female ; History, 19th Century ; Humans ; Infant ; Male ; Middle Aged ; *Pedigree ; Young Adult ; }, }
@article {pmid20140454, year = {2010}, author = {Hagemann, R}, title = {The foundation of extranuclear inheritance: plastid and mitochondrial genetics.}, journal = {Molecular genetics and genomics : MGG}, volume = {283}, number = {3}, pages = {199-209}, pmid = {20140454}, issn = {1617-4623}, mesh = {Antirrhinum/genetics ; Cell Nucleus/genetics/physiology ; Extrachromosomal Inheritance/*genetics ; Female ; Genomics/history ; History, 20th Century ; Humans ; Male ; Mitochondria/*genetics ; Parents ; Periodicals as Topic/history ; Phenotype ; Plants/genetics ; Plastids/*genetics ; Portraits as Topic ; }, abstract = {In 1909 two papers by Correns and by Baur published in volume 1 of Zeitschrift für induktive Abstammungs- und Vererbungslehre (now Molecular Genetics and Genomics) reported on the non-Mendelian inheritance of chlorophyll deficiencies. These papers, reporting the very first cases of extranuclear inheritance, laid the foundation for a new field: non-Mendelian or extranuclear genetics. Correns observed a purely maternal inheritance (in Mirabilis), whereas Baur found a biparental inheritance (in Pelargonium). Correns suspected the non-Mendelian factors in the cytoplasm, while Baur believed that the plastids carry these extranuclear factors. In the following years, Baur's hypothesis was proved to be correct. Baur subsequently developed the theory of plastid inheritance. In many genera the plastids are transmitted only uniparentally by the mother, while in a few genera there is a biparental plastid inheritance. Commonly there is random sorting of plastids during ontogenetic development. Renner and Schwemmle as well as geneticists in other countries added additional details to this theory. Pioneering studies on mitochondrial inheritance in yeast started in 1949 in the group of Ephrussi and Slonimski; respiration-deficient cells (petites in yeast, poky in Neurospora) were demonstrated to be due to mitochondrial mutations. Electron microscopical and biochemical studies (1962-1964) showed that plastids and mitochondria contain organelle-specific DNA molecules. These findings laid the molecular basis for the two branches of extranuclear inheritance: plastid and mitochondrial genetics.}, }
@article {pmid20089708, year = {2010}, author = {Kitamura, D and Kudo, A and Schaal, S and Müller, W and Melchers, F and Rajewsky, K}, title = {Pillars article: a critical role of lambda 5 protein in B cell development. Cell. 1992. 69: 823-831.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {184}, number = {3}, pages = {1130-1138}, pmid = {20089708}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocytes/cytology/*immunology ; Base Sequence ; Cell Differentiation/genetics ; Gene Rearrangement, B-Lymphocyte ; Hematopoietic Stem Cells/cytology/*immunology ; History, 20th Century ; Humans ; Immunoglobulin Light Chains, Surrogate/genetics/*history ; Immunoglobulin lambda-Chains/genetics/*history ; Mice ; Mice, Inbred Strains ; Mice, Transgenic ; Mutagenesis, Insertional ; Mutagenesis, Site-Directed/history ; Recombination, Genetic ; }, }
@article {pmid20027784, year = {2009}, author = {Roll-Hansen, N}, title = {Sources of Wilhelm Johannsen's genotype theory.}, journal = {Journal of the history of biology}, volume = {42}, number = {3}, pages = {457-493}, pmid = {20027784}, issn = {0022-5010}, mesh = {*Genes, Plant ; Genetics/*history ; Genotype ; Historiography ; History, 19th Century ; History, 20th Century ; Models, Genetic ; Phenotype ; }, abstract = {This paper describes the historical background and early formation of Wilhelm Johannsen's distinction between genotype and phenotype. It is argued that contrary to a widely accepted interpretation (For instance, W. Provine, 1971. The Origins of Theoretical Population Genetics. Chicago: The University of Chicago Press; Mayr, 1973; F. B. Churchill, 1974. Journal of the History of Biology 7: 5-30; E. Mayr, 1982. The Growth of Biological Thought, Cambridge: Harvard University Press; J. Sapp, 2003. Genesis. The Evolution of Biology. New York: Oxford University Press) his concepts referred primarily to properties of individual organisms and not to statistical averages. Johannsen's concept of genotype was derived from the idea of species in the tradition of biological systematics from Linnaeus to de Vries: An individual belonged to a group - species, subspecies, elementary species - by representing a certain underlying type (S. Müller-Wille and V. Orel, 2007. Annals of Science 64: 171-215). Johannsen sharpened this idea theoretically in the light of recent biological discoveries, not least those of cytology. He tested and confirmed it experimentally combining the methods of biometry, as developed by Francis Galton, with the individual selection method and pedigree analysis, as developed for instance by Louis Vilmorin. The term "genotype" was introduced in W. Johannsen's 1909 (Elemente der Exakten Erblichkeitslehre. Jena: Gustav Fischer) treatise, but the idea of a stable underlying biological "type" distinct from observable properties was the core idea of his classical bean selection experiment published 6 years earlier (W. Johannsen, 1903. Ueber Erblichkeit in Populationen und reinen Linien. Eine Beitrag zur Beleuchtung schwebender Selektionsfragen, Jena: Gustav Fischer, pp. 58-59). The individual ontological foundation of population analysis was a self-evident presupposition in Johannsen's studies of heredity in populations from their start in the early 1890s till his death in 1927. The claim that there was a "substantial but cautious modification of Johannsen's phenotype-genotype distinction" (Churchill, 1974, p. 24) from a statistical to an individual ontological perspective derives from a misreading of the 1903 and 1909 texts. The immediate purpose of this paper is to correct this reading of the 1903 monograph by showing how its problems and results grow out of Johannsen's earlier work in heredity and plant breeding. Johannsen presented his famous selection experiment as the culmination of a line of criticism of orthodox Darwinism by William Bateson, Hugo de Vries, and others (Johannsen, 1903). They had argued that evolution is based on stepwise rather than continuous change in heredity. Johannsen's paradigmatic experiment showed how stepwise variation in heredity could be operationally distinguished from the observable, continuous morphological variation. To test Galton's law of partial regression, Johannsen deliberately chose pure lines of self-fertilizing plants, a pure line being the descendants in successive generations of one single individual. Such a population could be assumed to be highly homogeneous with respect to hereditary type, and Johannsen found that selection produced no change in this type. Galton, he explained, had experimented with populations composed of a number of stable hereditary types. The partial regression which Galton found was simply an effect of selection between types, increasing the proportion of some types at the expense of others.}, }
@article {pmid20009493, year = {2010}, author = {Sykorova, V and Dvorakova, S and Ryska, A and Vcelak, J and Vaclavikova, E and Laco, J and Kodetova, D and Kodet, R and Cibula, A and Duskova, J and Hlobilkova, A and Astl, J and Vesely, D and Betka, J and Hoch, J and Smutny, S and Cap, J and Vlcek, P and Novak, Z and Bendlova, B}, title = {BRAFV600E mutation in the pathogenesis of a large series of papillary thyroid carcinoma in Czech Republic.}, journal = {Journal of endocrinological investigation}, volume = {33}, number = {5}, pages = {318-324}, pmid = {20009493}, issn = {1720-8386}, mesh = {Adult ; Age Factors ; Aged ; Aged, 80 and over ; Carcinoma, Papillary/epidemiology/*genetics/pathology ; Chernobyl Nuclear Accident ; Codon/genetics ; Czech Republic/epidemiology ; DNA, Neoplasm/biosynthesis/genetics ; Exons/genetics ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Mutation/physiology ; Neoplasm Invasiveness/genetics ; Polymorphism, Single-Stranded Conformational/genetics ; Proto-Oncogene Proteins B-raf/*genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Thyroid Neoplasms/epidemiology/*genetics/pathology ; }, abstract = {BACKGROUND: Activating point mutation of the BRAF gene, the most common genetic alteration reported in papillary thyroid carcinomas (PTC), has been associated with poor prognostic characteristics.<br><br>AIM: Our objective was to determine the frequency of BRAFV600E mutation in PTC tumor tissues from the period 1960-2007 and to correlate it with clinicopathological parameters.<br><br>SUBJECTS AND METHODS: DNAs were extracted from 242 PTCs, 23 sporadic medullary carcinomas, one anaplastic carcinoma and 6 poorly differentiated carcinomas. The presence of BRAFV600E mutation was determined using single strand conformation polymorphism method and verified by direct sequencing.<br><br>RESULTS: BRAFV600E mutation was detected in 81 of 242 PTCs (33.5%), in one of 6 poorly differentiated carcinomas (16.7%) and in anaplastic carcinoma. BRAFV600E mutation was much less frequent in the follicular variant compared to classical variant and mixed follicular- classical variant of PTCs (p=0.001). BRAFV600E mutation was significantly associated with presence of nodal metastasis (p=0.029), more advanced TNM stage (p=0.014) and recurrence of disease (p=0.008). The mutation correlated with a higher age at diagnosis (p=0.049) and with a greater tumor size (p=0.041). Multivariate analysis confirmed these findings. The prevalence of BRAFV600E mutation before 1986 was significantly lower than after it (p=0.008).<br><br>CONCLUSIONS: Our data suggest that BRAFV600E mutation is associated with high-risk clinicopathological characteristics of PTC and worse prognosis of patients. The frequency of the mutation significantly varied during the observed period but rather because of the different age distribution of patients in particular periods than as a consequence of Chernobyl accident.}, }
@article {pmid20006671, year = {2010}, author = {Dahlstrom, AB}, title = {Fast intra-axonal transport: Beginning, development and post-genome advances.}, journal = {Progress in neurobiology}, volume = {90}, number = {2}, pages = {119-145}, doi = {10.1016/j.pneurobio.2009.11.004}, pmid = {20006671}, issn = {1873-5118}, mesh = {Animals ; Axonal Transport/*physiology ; Biogenic Amines/metabolism ; Genome/*physiology ; Histocytochemistry/history/methods ; History, 20th Century ; History, 21st Century ; Models, Neurological ; Nervous System/*cytology ; Neurons/metabolism/*ultrastructure ; Neurotransmitter Agents/genetics/*metabolism ; }, abstract = {The review describes the initial experiments suggesting a fast intra-axonal transport of transmitter related substances, in addition to the "classic" slow flow. Early experiments were mainly conducted in the peripheral adrenergic system, focusing on transport of amine storage granules, the extent of the vast sympathetic adrenergic system and the importance of axonal transport of amine granules for the adrenergic system. Further, it describes important advances obtained from studies of other neuron systems regarding local axonal protein synthesis, motor proteins and new insights regarding relation between faults in the transport machinery and some neuropathological conditions.}, }
@article {pmid19996180, year = {2009}, author = {Hull, PM and Norris, RD}, title = {Evidence for abrupt speciation in a classic case of gradual evolution.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {106}, number = {50}, pages = {21224-21229}, pmid = {19996180}, issn = {1091-6490}, mesh = {*Biological Evolution ; *Genetic Speciation ; History, Ancient ; Marine Biology ; Phylogeny ; Plankton/*genetics ; }, abstract = {In contrast with speciation in terrestrial organisms, marine plankton frequently display gradual morphological change without lineage division (e.g., phyletic gradualism or gradual evolution), which has raised the possibility that a different mode of evolution dominates within pelagic environments. Here, we reexamine a classic case of putative gradual evolution within the Globorotalia plesiotumida-G. tumida lineage of planktonic foraminifera, and find both compelling evidence for the existence of a third cryptic species during the speciation event and the abrupt evolution of the descendant G. tumida. The third morphotype, not recognized in previous analyses, differs in shape and coiling direction from its ancestor, G. plesiotumida. This species dominates the globorotaliid population for 414,000 years just before the appearance of G. tumida. The first population of the descendant, G. tumida, evolves abruptly within a 44,000-year interval. A combination of morphological data and biostratigraphic evidence suggests that G. tumida evolved by cladogenesis. Our findings provide an unexpected twist on one of the best-documented cases of within-lineage phyletic gradualism and, in doing so, revisit the limitations and promise of the study of speciation in the fossil record.}, }
@article {pmid19956182, year = {2008}, author = {Williams, D}, title = {Radiation carcinogenesis: lessons from Chernobyl.}, journal = {Oncogene}, volume = {27 Suppl 2}, number = {}, pages = {S9-18}, doi = {10.1038/onc.2009.349}, pmid = {19956182}, issn = {1476-5594}, mesh = {Adult ; Age Factors ; Cell Transformation, Neoplastic/*radiation effects ; Chernobyl Nuclear Accident ; Child ; Humans ; Neoplasms, Radiation-Induced/*complications ; Nuclear Receptor Coactivators/genetics ; Risk Factors ; Thyroid Neoplasms/*etiology/genetics ; }, abstract = {Radiation is a carcinogen, interacting with DNA to produce a range of mutations. Irradiated cells also show genomic instability, as do adjacent non-irradiated cells (the bystander effect); the importance to carcinogenesis remains to be established. Current knowledge of radiation effects is largely dependent on evidence from exposure to atomic bomb whole body radiation, leading to increases in a wide range of malignancies. In contrast, millions of people were exposed to radioactive isotopes in the fallout from the Chernobyl accident, within the first 20 years there was a large increase in thyroid carcinoma incidence and a possible radiation-related increase in breast cancer, but as yet there is no general increase in malignancies. The increase in thyroid carcinoma, attributable to the very large amounts of iodine 131 released, was first noticed in children with a strong relationship between young age at exposure and risk of developing papillary thyroid carcinoma (PTC). The extent of the increase, the reasons for the relationship to age at exposure, the reduction in attributable fraction with increasing latency and the role of environmental factors are discussed. The large number of radiation-induced PTCs has allowed new observations. The subtype and molecular findings change with latency; most early cases were solid PTCs with RET-PTC3 rearrangements, later cases were classical PTCs with RET-PTC1 rearrangements. Small numbers of many other RET rearrangements have occurred in 'Chernobyl' PTCs, and also rearrangement of BRAF. Five of the N-terminal genes found in papillary carcinoma rearrangements are also involved in rearrangements in hematological malignancies; three are putative tumor suppressor genes, and two are further genes fused to RET in PTCs. Radiation causes double-strand breaks; the rearrangements common in these radiation-induced tumors reflect their etiology. It is suggested that oncogenic rearrangements may commonly involve both a tumor-suppressor gene (or a DNA repair gene) as well as an oncogene. Involvement of two relevant genes would give a greater chance of progression and a shorter latency than a single-gene mutation. More information is needed on germline mutations conferring susceptibility to radiation-induced PTCs, particularly DNA repair genes. The radiation exposure to the fallout after Chernobyl was very different from the whole body radiation after the atomic bombs. The type and molecular pathology of the thyroid tumors is changing with increasing latency, long latency tumors in other organs could occur in the future. A comprehensive follow up must continue for the lifetime of those exposed.}, }
@article {pmid19933231, year = {2009}, author = {Charlesworth, B and Charlesworth, D}, title = {Darwin and genetics.}, journal = {Genetics}, volume = {183}, number = {3}, pages = {757-766}, pmid = {19933231}, issn = {1943-2631}, mesh = {Animals ; Biological Evolution ; *Evolution, Molecular ; Genetics/history ; History, 19th Century ; Humans ; *Selection, Genetic ; Species Specificity ; }, abstract = {Darwin's theory of natural selection lacked an adequate account of inheritance, making it logically incomplete. We review the interaction between evolution and genetics, showing how, unlike Mendel, Darwin's lack of a model of the mechanism of inheritance left him unable to interpret his own data that showed Mendelian ratios, even though he shared with Mendel a more mathematical and probabilistic outlook than most biologists of his time. Darwin's own "pangenesis" model provided a mechanism for generating ample variability on which selection could act. It involved, however, the inheritance of characters acquired during an organism's life, which Darwin himself knew could not explain some evolutionary situations. Once the particulate basis of genetics was understood, it was seen to allow variation to be passed intact to new generations, and evolution could then be understood as a process of changes in the frequencies of stable variants. Evolutionary genetics subsequently developed as a central part of biology. Darwinian principles now play a greater role in biology than ever before, which we illustrate with some examples of studies of natural selection that use DNA sequence data and with some recent advances in answering questions first asked by Darwin.}, }
@article {pmid19892136, year = {2010}, author = {Lanska, DJ}, title = {Chapter 33: the history of movement disorders.}, journal = {Handbook of clinical neurology}, volume = {95}, number = {}, pages = {501-546}, doi = {10.1016/S0072-9752(08)02133-7}, pmid = {19892136}, issn = {0072-9752}, mesh = {Basal Ganglia/pathology ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; History, Medieval ; Humans ; Movement Disorders/classification/*history/pathology/physiopathology ; }, abstract = {UNLABELLED: Role of basal ganglia: Vesalius and Piccolomini distinguished subcortical nuclei from cortex and white matter in the 16th century. Willis' mistaken concept in the late 17th century that the corpus striatum was the seat of motor power persisted for 200 years and formed the basis of mid-19th-century localizations of movement disorders to the striatum (chorea by Broadbent and Jackson, and athetosis by Hammond). By the late 19th century, many movement disorders were described but for most no pathologic correlate was known. Tremor: Descriptions of tremors progressed from Galen's definition in the 2nd century; to Galileo's physiologic tremor in 1610; separation of involuntary movements during action and at rest in the 17th and 18th centuries by de la Boë Sylvius and van Sweiten; description of Parkinson's disease by Parkinson, discrimination of the rest tremor of Parkinson's disease from the intention tremor of multiple sclerosis by Charcot, and recognition of familial action tremors by Dana and others in the late 19th century; and recognition of autosomal dominant essential tremor in the mid-20th century. Parkinsonism: Pathologic changes in Parkinson's disease were recognized in the substantia nigra by Blocq and Marinescu in the late 19th century, and around 1920 Trértiakoff established Lewy bodies in the substantia nigra as a pathologic hallmark while the Vogts instead emphasized pathologic changes in the striatum; it was only in the mid-1960s that a nigrostriatal dopaminergic pathway was demonstrated and found to be critical to pathogenesis. Early treatment approaches with anticholinergic medications or crude neurosurgical ablation procedures were eclipsed in the 1960s by the advent of L-DOPA therapy due to the work of Carlsson and colleagues, Birkmayer and Hornykiewicz, Barbeau, and Cotzias. Later progress in understanding and treating Parkinson's disease included recognition of neuroleptic-induced parkinsonism beginning in the 1950s, development of dopamine agonists and elaboration of different dopamine receptors beginning in the 1960s, recognition of MPTP-induced parkinsonism in 1982 and subsequent development of experimental models of MPTP-induced parkinsonism. Since the 1980s, stereotactic neurosurgical ablation procedures such as stereotactic pallidotomy were revisited and improved, and stimulation or ablation procedures that modulate subthalamic nucleus activity were developed. Since 1990, rare genetic forms of Parkinson's disease were discovered, which accelerated progress in understanding pathogenesis, and established roles for alpha synuclein and the ubiquitin-proteasome proteolytic system. Separation of atypical forms of parkinsonism (e.g. Wilson's disease, multisystem atrophy, progressive supranuclear palsy, and corticobasal degeneration) from Parkinson's disease in the 20th century also led to important discoveries of basal ganglia function, and in the case of Wilson's disease to recognition of genetic mutations and effective treatments. Choreoathetosis: Since the middle ages, the term chorea has been used to describe both organic and psychological disorders of motor control. Paracelcus introduced the concept of chorea as an organic medical condition in the 16th century. Sydenham's description of childhood chorea (1686) was followed by recognition in the 19th and 20th centuries that Sydenham's chorea was a manifestation of rheumatic fever; by the 1930s, rheumatic fever was recognized as a sequel of group A streptococcal pharyngitis, which could be effectively prevented with sulfonamides. Athetosis was described by Hammond (1871) and later linked by him to a malignant growth in the contralateral corpus striatum; nevertheless, athetosis has been controversial and often dismissed as a form of post-hemiplegic chorea or part of a continuum between chorea and dystonia. Huntington's classic description of adult-onset hereditary chorea (1872) was followed a century later by demonstration that Huntington's disease is caused by an unstable CAG trinucleotide repeat expansion in the Huntington disease gene on chromosome 4; this triggered a surge in research, development of various animal models, and numerous important discoveries of cell function and disease pathogenesis. Hemiballismus and the subthalamic nucleus: The relationship between a lesion of the subthalamic nucleus of Luys and contralateral hemiballismus was first convincingly demonstrated by Martin in 1927; this led 20 years later to development of an animal model by Whittier and Mettler, who produced experimental hemichorea-hemiballismus in monkeys by lesioning the contralateral subthalamic nucleus. Since the late 1980s, the neurochemistry and neurophysiology of the subthalamic nucleus have been substantially revised with the demonstration that the subthalamic nucleus is not fundamentally inhibitory but instead provides excitatory glutaminergic inputs to the globus pallidus, and appreciation that the subthalamic nucleus serves an important role in both hyperkinetic and hypokinetic movement disorders. Dystonia: Dystonias were often interpreted in psychological or psychiatric terms since the original descriptions of generalized dystonia by Barraquer Roviralta (1897), and familial forms of generalized primary tortion dystonia by Schwalbe (1908) and Oppenheim (1911). Although Oppenheim had first insisted that dystonia was an organic disease, it was only in the late-20th century that an organic framework was firmly established with the identification of genetic mutations in some families with dystonia and with the demonstration that the basal ganglia were often damaged contralateral to acquired hemidystonia. Focal and segmental forms of dystonia, including writer's cramp, other occupational dystonias, and torticollis, were also recognized in the 19th century. Writer's cramp was clearly described in the 1830s by Bell and Kopp, and increasingly recognized in the late 19th century due in part to Solly's influential lectures on "scriviner's palsy" in the 1860s, and to increasing prevalence because of the increase in writing using primitive writing instruments. Myoclonus: In 1903, Lundborg proposed a classification of myoclonus that remains in use, with primary (essential), epileptic, and secondary or symptomatic categories: essential myoclonus was described by Friedrich in 1881; forms of myoclonic epilepsy were described beginning in the late 19th century by West (1861), Unverricht (1891), and Lundberg (1903); and secondary multifocal myoclonus was recognized in a wide variety of disorders beginning in the 1920s. Asterixis was described in patients with hepatic encephalopathy by Adams and Foley in 1949 and found to result from electrically silent pauses in muscle activity, which led to the concept of negative myoclonus in the 1980s. Posthypoxic action myoclonus (Lance-Adams syndrome) was described by Lance and Adams in 1963 and found to incorporate both positive and negative components. Startle syndromes: Early descriptions of pathologic startle syndromes included Beard's description of the jumping Frenchmen of Maine (1878) and Hammond's description of miryachit (1884), both of which may have had psychological origins. In contrast, hyperekplexia or "startle disease" was described in the late 1950s and early 1960s, and genetic forms were later found to result from various mutations affecting glycinergic synapses. Tics: Tic disorders were described by Itard (1825) and Trousseau (1873), but only gained wider recognition in the late 19th century after Charcot presented cases before his classroom audiences and after Gilles de la Tourette's classic description in 1885. Gilles de la Tourette and Charcot initially considered tic disorders and startle syndromes to be similar if not identical, but these disorders were later recognized as distinct. Psychodynamic and psychological theories or etiology gave way in the 1960s to biological theories supporting an important role for dopamine in pathogenesis, particularly with the discovery that neuroleptic medications could be useful in treatment.<br><br>CONCLUSION: In the last two centuries, neuroscientists and clinicians contributed greatly to our understanding of basal ganglia anatomy and physiology, as well as to movement disorder semiology, pathophysiology, treatment, and prevention. The development of animal models, and the increasing use of genetic and molecular biological techniques will lead to further advances in the coming years.}, }
@article {pmid19843931, year = {2009}, author = {Goodnow, CC and Crosbie, J and Adelstein, S and Lavoie, TB and Smith-Gill, SJ and Brink, RA and Pritchard-Briscoe, H and Wotherspoon, JS and Loblay, RH and Raphael, K and Trent, RJ and Basten, A}, title = {Altered immunoglobulin expression and functional silencing of self-reactive B lymphocytes in transgenic mice.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {183}, number = {9}, pages = {5442-5448}, pmid = {19843931}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocyte Subsets/*immunology/metabolism/pathology ; Female ; History, 20th Century ; Immunoglobulins/*genetics/metabolism ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mice, Inbred CBA ; Mice, Transgenic ; Self Tolerance/*genetics/*immunology ; }, }
@article {pmid19831248, year = {2009}, author = {Cottebrune, A}, title = {[Between theory and interpretation of the hereditary transmission process of mental disease. The introduction of Mendelism in German and North American psychiatry, 1911-1930].}, journal = {NTM}, volume = {17}, number = {1}, pages = {35-54}, doi = {10.1007/s00048-008-0325-y}, pmid = {19831248}, issn = {0036-6978}, mesh = {Genetic Diseases, Inborn/history ; Genetic Research/*history ; Genetics, Medical/*history ; Germany ; History, 20th Century ; Humans ; Mental Disorders/genetics/*history ; Psychiatry/*history ; United States ; }, abstract = {1911 saw the beginning of decisive developments in psychiatric genetic research. During that year, two expert papers dealing with the application of the Mendelian Theory were published in Germany and in the United States. Only a decade after the "rediscovery" of the Mendelian Laws simultaneous efforts were being made to better understand the hereditary transmission process of mental diseases by means of the Mendelian Theory. The results of these efforts were disparate. While in the United States, the Mendelian theory was used to support the polymorphous theory of the hereditary transmission process of mental diseases, by which a common hereditary origin of mental diseases was assumed, the introduction of Mendelism in psychiatry in Germany focused on corroborating Emil Kraepelin's concept of a disease entity. The Mendelian Theory especially helps to underpin the idea of a specific genetic origin of the clinical diseases described by Kraepelin. AS German and North American psychiatric genetics were inspired by diverse disease and genetic concepts, so too was their use of the Mendelian Theory very divergent. Research linked to the use of the Mendelian Theory was both dissimilar and hotly contested. This was due to the fact that it was difficult, if not impossible to identify Mendelian patterns by studying the hereditary transmission profess. As a result, the approach of studying the genetic basis of mental diseases was further developed in Germany.}, }
@article {pmid19788478, year = {2009}, author = {McCredie, J}, title = {History, heresy and radiology in scientific discovery.}, journal = {Journal of medical imaging and radiation oncology}, volume = {53}, number = {5}, pages = {433-441}, doi = {10.1111/j.1754-9485.2009.02101.x}, pmid = {19788478}, issn = {1754-9485}, mesh = {Abnormalities, Drug-Induced/*diagnostic imaging/*history ; History, 20th Century ; History, 21st Century ; Humans ; Radiography ; Radiology/*history ; Science/*history ; Thalidomide/*adverse effects/*history ; }, abstract = {Nowadays, most drugs reach the market after research has established their pharmacology, safety and efficacy. That was not always the case 50 years ago. Thalidomide was used before its target cell or mode of action were known. Commencing with the thalidomide catastrophe--an epidemic of gross birth defects (1958-1962)--thalidomide's origins are revisited to show how this drug came to be made and sold in the 1950s. Thalidomide intersected with Australian radiology in the 1970s. The site and mode of action of the drug was deduced from X-rays of thalidomide-induced bone defects, which have classical radiological signs of sensory neuropathic osteoarthropathy. The longitudinal reduction deformities follow the distribution of segmental sensory innervation of the limb skeleton, indicating neural crest as the target organ. Injury to one level of neural crest halts normal neurotrophism and deletes the dependent segment--a previously unrecognised embryonic mechanism that explains most non-genetic birth defects. The final common pathway is neural crest injury and failure of normal neurotrophism to result in longitudinal reduction deformities, for example, phocomelia.}, }
@article {pmid19760277, year = {2009}, author = {Beutel, RG and Friedrich, F and Leschen, RA}, title = {Charles Darwin, beetles and phylogenetics.}, journal = {Die Naturwissenschaften}, volume = {96}, number = {11}, pages = {1293-1312}, pmid = {19760277}, issn = {1432-1904}, mesh = {Animals ; Coleoptera/anatomy &amp; histology/*classification/*genetics/growth &amp; development ; Europe ; Evolution, Molecular ; Folklore ; Fossils ; Genetic Variation ; Genetics, Medical/history ; History, 19th Century ; History, 20th Century ; Humans ; Larva/anatomy &amp; histology ; *Phylogeny ; Poetry as Topic ; Species Specificity ; }, abstract = {Here, we review Charles Darwin's relation to beetles and developments in coleopteran systematics in the last two centuries. Darwin was an enthusiastic beetle collector. He used beetles to illustrate different evolutionary phenomena in his major works, and astonishingly, an entire sub-chapter is dedicated to beetles in "The Descent of Man". During his voyage on the Beagle, Darwin was impressed by the high diversity of beetles in the tropics, and he remarked that, to his surprise, the majority of species were small and inconspicuous. However, despite his obvious interest in the group, he did not get involved in beetle taxonomy, and his theoretical work had little immediate impact on beetle classification. The development of taxonomy and classification in the late nineteenth and earlier twentieth century was mainly characterised by the exploration of new character systems (e.g. larval features and wing venation). In the mid-twentieth century, Hennig's new methodology to group lineages by derived characters revolutionised systematics of Coleoptera and other organisms. As envisioned by Darwin and Ernst Haeckel, the new Hennigian approach enabled systematists to establish classifications truly reflecting evolution. Roy A. Crowson and Howard E. Hinton, who both made tremendous contributions to coleopterology, had an ambivalent attitude towards the Hennigian ideas. The Mickoleit school combined detailed anatomical work with a classical Hennigian character evaluation, with stepwise tree building, comparatively few characters and a priori polarity assessment without explicit use of the outgroup comparison method. The rise of cladistic methods in the 1970s had a strong impact on beetle systematics. Cladistic computer programs facilitated parsimony analyses of large data matrices, mostly morphological characters not requiring detailed anatomical investigations. Molecular studies on beetle phylogeny started in the 1990s with modest taxon sampling and limited DNA data. This has changed dramatically. With very large data sets and high throughput sampling, phylogenetic questions can be addressed without prior knowledge of morphological characters. Nevertheless, molecular studies have not lead to the great breakthrough in beetle systematics--yet. Especially the phylogeny of the extremely species rich suborder Polyphaga remains incompletely resolved. Coordinated efforts of molecular workers and of morphologists using innovative techniques may lead to more profound insights in the near future. The final aim is to develop a well-founded phylogeny, which truly reflects the evolution of this immensely species rich group of organisms.}, }
@article {pmid19696429, year = {2009}, author = {Murphy, PM and Tiffany, HL}, title = {Cloning of complementary DNA encoding a functional human interleukin-8 receptor. Science. 1991. 253: 1280-1283.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {183}, number = {5}, pages = {2898-2901}, pmid = {19696429}, issn = {1550-6606}, mesh = {Amino Acid Sequence ; Animals ; Cell Line, Tumor ; Cloning, Molecular ; DNA, Complementary/isolation &amp; purification ; History, 20th Century ; Humans ; Jurkat Cells ; Molecular Sequence Data ; Neutrophils/immunology/metabolism ; Oocytes/metabolism ; Rabbits ; Receptors, Interleukin-8/*genetics/*isolation &amp; purification/physiology ; Receptors, Interleukin-8A/isolation &amp; purification ; Sequence Homology, Amino Acid ; Xenopus ; }, }
@article {pmid19696428, year = {2009}, author = {Holmes, WE and Lee, J and Kuang, WJ and Rice, GC and Wood, WI}, title = {Structure and functional expression of a human interleukin-8 receptor. Science. 1991. 253: 1278-1280.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {183}, number = {5}, pages = {2895-2897}, pmid = {19696428}, issn = {1550-6606}, mesh = {Amino Acid Sequence ; Animals ; COS Cells ; Cell Line ; Chlorocebus aethiops ; Cloning, Molecular/*methods ; Gene Expression Regulation/*immunology ; History, 20th Century ; Humans ; Jurkat Cells ; Molecular Sequence Data ; Neutrophils/immunology/metabolism ; Receptors, Interleukin-8/biosynthesis/*chemistry/*genetics/physiology ; Receptors, Interleukin-8A/chemistry ; U937 Cells ; }, }
@article {pmid19681029, year = {2009}, author = {Kerr, WE and Wright, S}, title = {Experimental studies of the distribution of gene frequencies in very small populations of Drosophila melanogaster: I. Forked. 1954.}, journal = {Genetics and molecular research : GMR}, volume = {8}, number = {2}, pages = {775-781}, pmid = {19681029}, issn = {1676-5680}, mesh = {Alleles ; Animals ; Drosophila melanogaster/*genetics ; Female ; *Gene Frequency ; History, 20th Century ; Male ; }, }
@article {pmid19638672, year = {2009}, author = {Liu, YS and Zhou, XM and Zhi, MX and Li, XJ and Wang, QL}, title = {Darwin's contributions to genetics.}, journal = {Journal of applied genetics}, volume = {50}, number = {3}, pages = {177-184}, pmid = {19638672}, issn = {1234-1983}, mesh = {Animals ; *Evolution, Molecular ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Darwin's contributions to evolutionary biology are well known, but his contributions to genetics are much less known. His main contribution was the collection of a tremendous amount of genetic data, and an attempt to provide a theoretical framework for its interpretation. Darwin clearly described almost all genetic phenomena of fundamental importance, such as prepotency (Mendelian inheritance), bud variation (mutation), heterosis, reversion (atavism), graft hybridization (Michurinian inheritance), sex-limited inheritance, the direct action of the male element on the female (xenia and telegony), the effect of use and disuse, the inheritance of acquired characters (Lamarckian inheritance), and many other observations pertaining to variation, heredity and development. To explain all these observations, Darwin formulated a developmental theory of heredity - Pangenesis - which not only greatly influenced many subsequent theories, but also is supported by recent evidence.}, }
@article {pmid19618333, year = {2009}, author = {Brown, P}, title = {Reflections on a half-century in the field of transmissible spongiform encephalopathy.}, journal = {Folia neuropathologica}, volume = {47}, number = {2}, pages = {95-103}, pmid = {19618333}, issn = {1641-4640}, mesh = {Animals ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Medical Illustration ; Periodicals as Topic ; Prion Diseases/*history ; }, abstract = {The subject of transmissible spongiform encephalopathy may properly be said to have begun with the experimental transmission of scrapie by Cuillé and Chelle in 1936, although Creutzfeldt and Jakob had described the disease that bears their names in 1920-21. Thirty more years passed before the human disease was also shown to be transmissible, in 1966, and the following half century has seen the field move from classical biology to molecular biology and genetics, and from 'slow virus' to host-encoded 'prion' protein. Because nothing is more important to the research scientist than the process of seeing a problem and devising ways of solving it, and because we live and die by our publications, as much care should be given to these vehicles of our work and reputations as to the research itself. Four aspects have been chosen for comment: authorship, abbreviations, data presentation, and references. In addition to the 'science of research' there are several 'para-scientific' activities that may be categorized as 'the politics of research', which include administrative duties, committees (e.g., scientific meetings, grant organizations), journal/book editing, peer reviewing, and public relations Many young scientists are either unaware or dismissive of the importance of these 'scientific distractions', but their potential for influencing the direction of a field of research becomes increasingly evident as careers unfold. They are subject to uses and abuses, and some guidance and examples are given by way of illustration, particular attention being paid to the process of manuscript review which, because of its anonymity, is the most vulnerable to abuse. As public and government interest in prions wanes in parallel with the disappearance of iatrogenic and variant Creutzfeldt-Jakob disease, the flow of money to sustain research is in evident jeopardy. With an uncertain future, it nevertheless seems possible that one of two things may breathe new life into the field: either an unforeseen new outbreak of human disease will occur (as has happened in the past), or a cross-fertilization between prions and the larger family of protein misfolding diseases, especially Alzheimer's disease, will bear fruit. For obvious reasons, we should hope for the botanical alternative.}, }
@article {pmid19597152, year = {2009}, author = {Smith, GJ and Bahl, J and Vijaykrishna, D and Zhang, J and Poon, LL and Chen, H and Webster, RG and Peiris, JS and Guan, Y}, title = {Dating the emergence of pandemic influenza viruses.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {106}, number = {28}, pages = {11709-11712}, pmid = {19597152}, issn = {1091-6490}, support = {HHSN266200700005C/AI/NIAID NIH HHS/United States ; }, mesh = {Bayes Theorem ; Cluster Analysis ; Disease Outbreaks/*statistics &amp; numerical data ; *Evolution, Molecular ; History, 20th Century ; Humans ; Influenza A virus/*genetics ; Influenza, Human/*epidemiology/*history ; Models, Genetic ; Phylogeny ; }, abstract = {Pandemic influenza viruses cause significant mortality in humans. In the 20th century, 3 influenza viruses caused major pandemics: the 1918 H1N1 virus, the 1957 H2N2 virus, and the 1968 H3N2 virus. These pandemics were initiated by the introduction and successful adaptation of a novel hemagglutinin subtype to humans from an animal source, resulting in antigenic shift. Despite global concern regarding a new pandemic influenza, the emergence pathway of pandemic strains remains unknown. Here we estimated the evolutionary history and inferred date of introduction to humans of each of the genes for all 20th century pandemic influenza strains. Our results indicate that genetic components of the 1918 H1N1 pandemic virus circulated in mammalian hosts, i.e., swine and humans, as early as 1911 and was not likely to be a recently introduced avian virus. Phylogenetic relationships suggest that the A/Brevig Mission/1/1918 virus (BM/1918) was generated by reassortment between mammalian viruses and a previously circulating human strain, either in swine or, possibly, in humans. Furthermore, seasonal and classic swine H1N1 viruses were not derived directly from BM/1918, but their precursors co-circulated during the pandemic. Mean estimates of the time of most recent common ancestor also suggest that the H2N2 and H3N2 pandemic strains may have been generated through reassortment events in unknown mammalian hosts and involved multiple avian viruses preceding pandemic recognition. The possible generation of pandemic strains through a series of reassortment events in mammals over a period of years before pandemic recognition suggests that appropriate surveillance strategies for detection of precursor viruses may abort future pandemics.}, }
@article {pmid19557679, year = {2009}, author = {Tabin, C}, title = {Molecular tools, classic questions - an interview with Clifford Tabin. Interviewed by Richardson, Michael K.}, journal = {The International journal of developmental biology}, volume = {53}, number = {5-6}, pages = {725-731}, doi = {10.1387/ijdb.072575mr}, pmid = {19557679}, issn = {1696-3547}, mesh = {Animals ; Body Patterning/genetics ; Chick Embryo ; Developmental Biology/*history/methods ; Gene Expression Regulation, Developmental ; Genes, Homeobox ; History, 20th Century ; History, 21st Century ; Homeodomain Proteins/genetics ; Humans ; }, abstract = {Clifford J. Tabin has made pioneering contributions to several fields in biology, including retroviruses, oncogenes, developmental biology and evolution. His father, a physicist who worked in the Manhattan project, kindled his interest in science. Cliff later chose to study biology and started his research career when the world of recombinant DNA was opening up. In Robert Weinbergs lab, he constructed the Moloney leukaemia virus (MLV-tk), the first recombinant retrovirus that could be used as a eukaryotic vector. He also discovered the amino acid changes leading to the activation of Ras, the first human oncogene discovered. As an independent researcher, he began in the field of urodele limb regeneration, and described the expression of retinoic acid receptor and Hox genes in the blastema. Moving to the chick model, his was one of the labs that simultaneously cloned the first vertebrate hedgehog cognates and showed that sonic hedgehog functions as a morphogen in certain developmental contexts, in particular as an organizing activity during limb development. Comparative studies by Ann Burke in his lab showed that differences in boundaries of Hox gene expression across vertebrate phylogeny correlated with differences in skeletal morphology. The Tabin lab also discovered a genetic pathway responsible for mediating left-right asymmetry in vertebrates; helped uncover the pathways leading to dorsoventral limb patterning; made contributions to our understanding of skeletal morphogenesis and identified developmental mechanisms that might underpin the diversification of the beak in Darwins finches. Despite being a professor of genetics at Harvard, Tabin says: "I have never done a genetics experiment in my life!". This is changing with his latest project: the genetics of Mexican cavefish. I interviewed Cliff on the 3rd October, 2007, in his office at Harvard.}, }
@article {pmid19517502, year = {2009}, author = {Gianazza, E and Righetti, PG}, title = {Immobilized pH gradients.}, journal = {Electrophoresis}, volume = {30 Suppl 1}, number = {}, pages = {S112-21}, doi = {10.1002/elps.200800641}, pmid = {19517502}, issn = {1522-2683}, mesh = {Buffers ; Electrophoresis, Gel, Two-Dimensional/history/*methods ; History, 20th Century ; Hydrogen-Ion Concentration ; Proteomics/*methods ; Software ; }, abstract = {In this short review, we give an account of the steps through which the protocols for operation with IPGs were set up in the early '80s. One of the main achievements by our group was the development of a computer program, pH GRADIENT, for the calculation of pH, buffering power and ionic strength of a mixture of monoprotic buffers titrated within any pH span and for the linearization of the desired pH gradient. Using this program, in 1984 we could devise formulations for IPGs covering up to six pH units, which was the subject of a publication in Electrophoresis (volume 5, pages 88-97). This was the starting point for the use of IPGs for the resolution of protein samples of any composition and for their application as first dimension of 2-DE separations. Currently IPGs are in common use in proteomics investigations, not only along classical protocols but also for sample prefractionation and in shotgun approaches. Much less frequently are they used for 1-DE analytical applications, a field for which in recent years much attention has instead more often focused on capillary electrophoresis/IEF procedures.}, }
@article {pmid19481570, year = {2009}, author = {Schwarzer, C}, title = {30 years of dynorphins--new insights on their functions in neuropsychiatric diseases.}, journal = {Pharmacology &amp; therapeutics}, volume = {123}, number = {3}, pages = {353-370}, pmid = {19481570}, issn = {1879-016X}, support = {P 20107/FWF_/Austrian Science Fund FWF/Austria ; }, mesh = {Animals ; Brain Diseases/*physiopathology ; Disease Models, Animal ; Dynorphins/history/*metabolism ; History, 20th Century ; Humans ; Mental Disorders/*physiopathology ; Mice ; Substance-Related Disorders/physiopathology ; }, abstract = {Since the first description of their opioid properties three decades ago, dynorphins have increasingly been thought to play a regulatory role in numerous functional pathways of the brain. Dynorphins are members of the opioid peptide family and preferentially bind to kappa opioid receptors. In line with their localization in the hippocampus, amygdala, hypothalamus, striatum and spinal cord, their functions are related to learning and memory, emotional control, stress response and pain. Pathophysiological mechanisms that may involve dynorphins/kappa opioid receptors include epilepsy, addiction, depression and schizophrenia. Most of these functions were proposed in the 1980s and 1990s following histochemical, pharmacological and electrophysiological experiments using kappa receptor-specific or general opioid receptor agonists and antagonists in animal models. However, at that time, we had little information on the functional relevance of endogenous dynorphins. This was mainly due to the complexity of the opioid system. Besides actions of peptides from all three classical opioid precursors (proenkephalin, prodynorphin, proopiomelanocortin) on the three classical opioid receptors (delta, mu and kappa), dynorphins were also shown to exert non-opioid effects mainly through direct effects on NMDA receptors. Moreover, discrepancies between the distribution of opioid receptor binding sites and dynorphin immunoreactivity contributed to the difficulties in interpretation. In recent years, the generation of prodynorphin- and opioid receptor-deficient mice has provided the tools to investigate open questions on network effects of endogenous dynorphins. This article examines the physiological, pathophysiological and pharmacological implications of dynorphins in the light of new insights in part obtained from genetically modified animals.}, }
@article {pmid19417539, year = {2009}, author = {Penrose, LS}, title = {The relative effects of paternal and maternal age in mongolism. 1933.}, journal = {Journal of genetics}, volume = {88}, number = {1}, pages = {9-14}, doi = {10.1007/s12041-009-0002-5}, pmid = {19417539}, issn = {0973-7731}, mesh = {Down Syndrome/epidemiology/genetics/*history ; History, 20th Century ; Humans ; *Maternal Age ; Models, Statistical ; *Paternal Age ; }, }
@article {pmid19380758, year = {2009}, author = {Saint-Ruf, C and Ungewiss, K and Groettrup, M and Bruno, L and Fehling, HJ and von Boehmer, H}, title = {Analysis and expression of a cloned pre-T cell receptor gene. Science. 1994. 266: 1208-1212.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {182}, number = {9}, pages = {5165-5169}, pmid = {19380758}, issn = {1550-6606}, mesh = {Amino Acid Sequence ; Animals ; Cell Differentiation/genetics/immunology ; Cell Line ; *Cloning, Molecular ; *Gene Expression Regulation, Developmental ; Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor ; History, 20th Century ; History, 21st Century ; Membrane Glycoproteins/*genetics/*history ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, SCID ; Molecular Sequence Data ; Receptors, Antigen, T-Cell, alpha-beta/*genetics/*history ; T-Lymphocyte Subsets/cytology/*immunology/*metabolism ; }, }
@article {pmid19299689, year = {2009}, author = {Schall, TJ and Jongstra, J and Dyer, BJ and Jorgensen, J and Clayberger, C and Davis, MM and Krensky, AM}, title = {A human T cell-specific molecule is a member of a new gene family. 1988.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {182}, number = {7}, pages = {3947-3954}, pmid = {19299689}, issn = {1550-6606}, mesh = {Base Sequence ; Blotting, Northern ; Blotting, Southern ; Cell Line ; Chemokine CCL5/*genetics/*history/*immunology ; Gene Library ; History, 20th Century ; Humans ; Lymphocyte Activation/immunology ; Molecular Sequence Data ; T-Lymphocytes, Cytotoxic/*immunology ; }, }
@article {pmid19268873, year = {2009}, author = {Suárez-Díaz, E}, title = {Molecular evolution: concepts and the origin of disciplines.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {40}, number = {1}, pages = {43-53}, doi = {10.1016/j.shpsc.2008.12.006}, pmid = {19268873}, issn = {1369-8486}, mesh = {Biological Science Disciplines/history ; *Evolution, Molecular ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {This paper focuses on the consolidation of Molecular Evolution, a field originating in the 1960s at the interface of molecular biology, biochemistry, evolutionary biology, biophysics and studies on the origin of life and exobiology. The claim is made that Molecular Evolution became a discipline by integrating different sorts of scientific traditions: experimental, theoretical and comparative. The author critically incorporates Timothy Lenoir's treatment of disciplines (1997), as well as ideas developed by Stephen Toulmin (1962) on the same subject. On their account disciplines are spaces where the social and epistemic dimensions of science are deeply and complexly interwoven. However, a more detailed account of discipline formation and the dynamics of an emerging disciplinary field is lacking in their analysis. The present essay suggests focusing on the role of scientific concepts in the double configuration of disciplines: the social/political and the epistemic order. In the case of Molecular Evolution the concepts of molecular clock and informational molecules played a central role, both in differentiating molecular from classical evolutionists, and in promoting communication between the different sorts of traditions integrated in Molecular Evolution. The paper finishes with a reflection on the historicity of disciplines, and the historicity of our concepts of disciplines.}, }
@article {pmid19244844, year = {2008}, author = {Theunissen, B}, title = {Breeding without Mendelism: theory and practice of dairy cattle breeding in the Netherlands 1900-1950.}, journal = {Journal of the history of biology}, volume = {41}, number = {4}, pages = {637-676}, pmid = {19244844}, issn = {0022-5010}, mesh = {Animals ; Breeding/*history/methods ; Cattle ; Dairying/*history ; Genetics/history ; History, 20th Century ; Netherlands ; }, abstract = {In the 1940s and 1950s, Dutch scientists became increasingly critical of the practices of commercial dairy cattle breeders. Milk yields had hardly increased for decades, and the scientists believed this to be due to the fact that breeders still judged the hereditary potential of their animals on the basis of outward characteristics. An objective verdict on the qualities of breeding stock could only be obtained by progeny testing, the scientists contended: the best animals were those that produced the most productive offspring. Some scientists had been making this claim since the beginning of the twentieth century. Why was it that their advice was apparently not heeded by breeders for so long? And what were the methods and beliefs that guided their practices? In this paper I intend to answer these questions by analysing the practical realities of dairy farming and stock breeding in The Netherlands between 1900 and 1950. Breeders continued to employ traditional breeding methods that had proven their effectiveness since the late eighteenth century. Their methods consisted in inbreeding--breeding in 'bloodlines,' as they called it--and selection on the basis of pedigree, conformation and milk recording data. Their aims were 'purity' and 'uniformity' of type. Progeny testing was not practiced due to practical difficulties. Before World War II, scientists acknowledged that genetic theory was of little practical use to breeders of livestock. Still, hereditary theory was considered to be helpful to assess the value of the breeders' methods. For instance, striving for purity was deemed to be consistent with Mendelian theory. Yet the term purity had different connotations for scientists and practical workers. For the former, it referred to homozygosity; for the latter, it rather buttressed the constancy of a distinct commercial 'brand.' Until the 1940s, practical breeders and most scientists were agreed that selecting animals purely for production was ill-advised. Cows of the extreme dairy type were believed to be prone to bovine tuberculosis. This conviction was at the basis of the development of 'the modern Friesian,' a rather robust type of dairy cow that was also valued for its aesthetically pleasing conformation and that became a commercial success. Contrary to the scientists' claims, it was not only for commercial reasons that breeders were reluctant to give up their modern Friesians after World War II, when the introduction of artificial insemination opened up the possibility of breeding more productive types by means of progeny testing. The political economy of breeding did indeed require breeders to protect their breed as a recognisable brand. Yet the moral economy of breeding must also be taken into account: the modern Friesian was also a product of widely shared normative standards of good and responsible farming.}, }
@article {pmid19244738, year = {2008}, author = {Köhler, P}, title = {[Lysenkoism in Polish botany].}, journal = {Kwartalnik historii nauki i techniki : Kwartal'nyi zhurnal istorii nauki i tekhniki -}, volume = {53}, number = {2}, pages = {83-161}, pmid = {19244738}, issn = {0023-589X}, mesh = {Agriculture/history ; Botany/*history ; Communism/*history ; Genetics/history ; History, 19th Century ; History, 20th Century ; Humans ; Natural Science Disciplines/history ; Poland ; Propaganda ; Publishing/history ; Societies/history ; Ukraine ; }, abstract = {Lysenkoism in Poland was never an autonomous phenomenon. The whole array of reasons for which it appeared in Polish science would require a separate study--here it only needs to be pointed out that the major reasons included terror on the part of the security service, lawlessness, the ubiquitous atmosphere of intimidation and terror, censorship, the diminishing sphere of civil liberties, political show trials, propaganda and denunciations. An important role in facilitating the introduction of Lysenkoism was played also by the reorganization of science after World War Two, the isolation of Polish science from science in the West, as well as the damage it had suffered during the war. At first, Lysenkoism was promoted in Poland by a small group of enthusiastic and uncritical proponents. A overview of the events connected with the ten years of Lysenkoism in Poland (end of 1948--beginning of 1958) shows a two-tier picture of how the 'idea' was propagated. The first tier consisted in the activities of the Association of Marxist Naturalists [Koło Przyrodników-Marksistów], which it engaged in since the end of 1948. The Association was later transformed into a Union of Marxist Naturalists, and this in turn merged, in 1952, with the Copernican Society of Polish Naturalists [Polskie Towarzystwo Przyrodników im. Kopernika]. It was that society which promoted Lysenkoism longest, until the end of 1956. The propaganda and training activities of the circle and the society prepared ground for analogous activities of the newly formed Polish Academy of Science (PAN), which--since its very establishment in 1952--engaged in promoting Lysenkoism through its Second Division. These activities were aimed at naturalists, initially at those who were prominent scientists (eg. the conference at Kuźnice, 1950/1951), and then at those who were only starting their academic career (including national courses in new biology at Dziwnów, 1952, or Kortowo, 1953 and 1955). The end to promoting Lysenkoism by PAN came with the Sixth General Assembly of its members on June 11-12, 1956. The second tier of propagating Lysenkoism consisted in activities aimed at the general public, including the teaching of creative Darwinism (obligatory for pupils of various levels of education), in the school years 1949/50-1956/57. There were few botanists who published studies in Lysenkoism: only 55 persons did so. Among them, there were only a few botanists who could boast of significant previous scientific achievements--they included Stefan Białobok (1909-1992), Władysław Kunicki-Goldfinger (1916-1995), Edmund Malinowski (1885-1979), Konstanty Moldenhawer (1889-1962), Józef Motyka (1900-1984), Szczepan Pieniazek. A majority of the authors of publication in Lysenkoism were young scientists or people who did publish anything later on. Basing on the available bibliographies, it is possible to ascertain that there were ca. 140 Lysenkoist botanical publications (out of the total of 3410), i.e. 4.1% (fig. 1) of all the botanist publications in Poland in that period. Their number in the years 1949-1953 was higher than in the next period, and oscillated between 15 and 24 publications annually (fig. 2). The percentage of Lysenkoist studies among all publications in botany published each year was highest in 1949 (11.5%), and decreased systematically in the following years (fig. 3). Lysenkoism was a marginal phenomenon in Polish botany. Among the Lysenkoist publications, most summarized papers delivered at successive conferences, or consisted in reprints of Soviet studies. A significant group was made up of publications popularizing the principles and achievements of Lysenkoism (on the basis of Soviet publications). There were relatively studies presenting the results of research conducted in Poland on the basis of Lysenko's theory. Botanists who remember those times recollect that topics connected with Michurinian-Lysenkoist biology were avoided. It is symptomatic that not a single Lysenkoist study was published in Acta Societatis Botanicorum Poloniae, the scientific journal of the Polish Botanical Society (out of the total of 359 articles published in the years 1948-1958). The attitudes of Polish botanists towards Lysenkoism varied. A great majority, i.e. ca. 96% of all botanists, dealt with research topics that did not require direct references to Lysenkoism and did not publish any Lysenkoist studies. A few botanists did publish studies based on the tenets of Lysenkoism. Some did so in a sincere belief in the validity of the theory (e.g. Aniela Makarewicz (1905-1990) or Szczepan Pieniazek). A number of botanists, who did not want to be exposed to harassment, avoided explicit endorsements of the theory or, whenever possible, used the "shield" of Soviet science. This consisted in using quotations from the classics of Marxism and Lysenkoism , both in papers delivered at conferences and in written publications. These references were a kind of levy paid in order to put vigilance of the censorship to sleep or to avoid non-substantive criticism. Other botanists (very few in number) took a hostile stand on Lysenkoism, which was a thing that required courage. The consequences for a university professor included being deprived of one's chair and being banned from publishing (this was, for instance, the case Prof. Wacław Gajewski (1911-1997)). The role of censorship should not be underestimated--it may be due to its activities that only isolated studies engaging in polemic with Lysenkoism, or trying to show the fallaciousness of its tenets, appeared in the first half of the 1950s. The content of publications was also affected by editors and editorial boards: as a result of their intervention, authors were forced to include obligatory quotations from the classics of Marxism and Lysenkoism in their articles. Since the current paper is based predominantly on publications, the strength of the opposition to Lysenkoism may be undervalued. It is well-known, not only from oral testimony, that the times of Lysenkoism were a terrible period in Polish botany, with all kinds of pressures exerted on botanists who did not adopt it. Fortunately, no Polish botanists lost their lives. The Lysenkoist period in Polish botany retarded the development of many of its branches. In the last fifty years many of the setbacks have been made up for, but it is in the biological education of the general public that Lysenkoism has had a more serious effect. Several generations of young people failed to be introduced to genetics, or at least its foundations, at any level of schooling. Instead they were inculcated with the erroneous belief of man's limitless possibilities in transforming nature, including the view that species can be shaped freely in line with economic needs. (ABSTRACT TRUNCATED)}, }
@article {pmid19224986, year = {2009}, author = {Weingartl, HM and Albrecht, RA and Lager, KM and Babiuk, S and Marszal, P and Neufeld, J and Embury-Hyatt, C and Lekcharoensuk, P and Tumpey, TM and García-Sastre, A and Richt, JA}, title = {Experimental infection of pigs with the human 1918 pandemic influenza virus.}, journal = {Journal of virology}, volume = {83}, number = {9}, pages = {4287-4296}, pmid = {19224986}, issn = {1098-5514}, mesh = {Animals ; Antibodies/immunology ; *Disease Models, Animal ; *Disease Outbreaks/history ; Female ; History, 20th Century ; Influenza A Virus, H1N1 Subtype/immunology/isolation &amp; purification/pathogenicity/*physiology ; Influenza A Virus, H3N2 Subtype/physiology ; Mice ; Orthomyxoviridae Infections/epidemiology/history/*pathology/*virology ; RNA, Viral/genetics ; Survival Rate ; Swine/*virology ; }, abstract = {Swine influenza was first recognized as a disease entity during the 1918 "Spanish flu" pandemic. The aim of this work was to determine the virulence of a plasmid-derived human 1918 pandemic H1N1 influenza virus (reconstructed 1918, or 1918/rec, virus) in swine using a plasmid-derived A/swine/Iowa/15/1930 H1N1 virus (1930/rec virus), representing the first isolated influenza virus, as a reference. Four-week-old piglets were inoculated intratracheally with either the 1930/rec or the 1918/rec virus or intranasally with the 1918/rec virus. A transient increase in temperature and mild respiratory signs developed postinoculation in all virus-inoculated groups. In contrast to other mammalian hosts (mice, ferrets, and macaques) where infection with the 1918/rec virus was lethal, the pigs did not develop severe respiratory distress or become moribund. Virus titers in the lower respiratory tract as well as macro- and microscopic lesions at 3 and 5 days postinfection (dpi) were comparable between the 1930/rec and 1918/rec virus-inoculated animals. In contrast to the 1930/rec virus-infected animals, at 7 dpi prominent lung lesions were present in only the 1918/rec virus-infected animals, and all the piglets developed antibodies at 7 dpi. Presented data support the hypothesis that the 1918 pandemic influenza virus was able to infect and replicate in swine, causing a respiratory disease, and that the virus was likely introduced into the pig population during the 1918 pandemic, resulting in the current lineage of the classical H1N1 swine influenza viruses.}, }
@article {pmid19219518, year = {2009}, author = {Ponseti, IV and Campos, J}, title = {The classic: observations on pathogenesis and treatment of congenital clubfoot. 1972.}, journal = {Clinical orthopaedics and related research}, volume = {467}, number = {5}, pages = {1124-1132}, pmid = {19219518}, issn = {1528-1132}, mesh = {Casts, Surgical/history ; Child ; Child, Preschool ; Clubfoot/etiology/*history/surgery ; Combined Modality Therapy ; Genetic Predisposition to Disease ; History, 20th Century ; Humans ; Infant ; Infant, Newborn ; Male ; Minimally Invasive Surgical Procedures/history ; Musculoskeletal Manipulations/*history ; Orthopedic Procedures/*history ; Risk Factors ; Treatment Outcome ; }, abstract = {This Classic article is a reprint of the original work by Ignacio V. Ponseti and Jeronimo Campos, Observations on Pathogenesis and Treatment of Congenital Clubfoot. An accompanying biographical sketch on Ignacio V. Ponseti, MD, is available at DOI 10.1007/s11999-009-0719-8 and a second Classic article is available at 10.1007/s11999-009-0720-2. This article is ©1972 by Lippincott Williams and Wilkins and is reprinted with permission from Ponseti IV, Campos J. Observations on Pathogenesis and Treatment of Congenital Clubfoot. Clin Orthop Relat Res. 1972;84:50–60.}, }
@article {pmid19202859, year = {2008}, author = {Kalokairinou, EM}, title = {The experience of beta-thalassaemiaand its prevention in Cyprus.}, journal = {Medicine and law}, volume = {27}, number = {4}, pages = {825-841}, pmid = {19202859}, issn = {0723-1393}, mesh = {Cyprus/epidemiology ; *Eugenics ; Female ; Humans ; Male ; beta-Thalassemia/genetics/mortality/*prevention &amp; control ; }, abstract = {Haemoglobinopathies are a series of hereditary genetic diseases which, if left untreated, usually prove fatal. The present paper discusses how one of the most important of these, beta-thalassaemia, afflicted the island of Cyprus in the last century and almost threatened to eliminate the whole population. In narrating the medical facts of the disease we point out the moral dilemmas which medical personnel, the state and the church had to deal with before they embarked on a program for the treatment and prevention of beta-thalassaemia. After careful study of the program we conclude that, although in the given case it proved a successful model for the management of beta-thalassaemia, it bears no resemblance whatsoever to eugenics.}, }
@article {pmid19109127, year = {2009}, author = {Coffman, RL and Lebman, DA and Shrader, B}, title = {Transforming growth factor beta specifically enhances IgA production by lipopolysaccharide-stimulated murine B lymphocytes. J. Exp. Med. 1989. 170: 1039-1044.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {182}, number = {1}, pages = {8-13}, pmid = {19109127}, issn = {1550-6606}, mesh = {Animals ; B-Lymphocyte Subsets/*metabolism ; Cells, Cultured ; Female ; Gene Rearrangement, B-Lymphocyte ; History, 20th Century ; Immunoglobulin A/biosynthesis/genetics/*history ; Immunoglobulin Class Switching ; Lipopolysaccharides/*history/physiology ; Mice ; Mice, Inbred BALB C ; Recombination, Genetic ; Transforming Growth Factor beta/*history/physiology ; }, }
@article {pmid19037519, year = {2008}, author = {Koh, TH}, title = {Gram-negative resistance in Singapore: a historical perspective.}, journal = {Annals of the Academy of Medicine, Singapore}, volume = {37}, number = {10}, pages = {847-854}, pmid = {19037519}, issn = {0304-4602}, mesh = {Anti-Bacterial Agents/*pharmacology ; Carbapenems/*pharmacology ; Cephalosporins/*pharmacology ; Drug Resistance, Microbial ; Gram-Negative Bacteria/*drug effects ; History, 20th Century ; History, 21st Century ; Humans ; Microbial Sensitivity Tests ; Quinolones/*pharmacology ; Singapore ; beta-Lactamases/genetics ; }, abstract = {In the past 3 decades, classical extended-spectrum beta-lactamases (ESBLs) have probably been the main contributors to gram-negative antimicrobial resistance in Singapore. These appear to be being replaced by the newer CTX-M ESBLs. Metallo-beta-lactamases are found in Pseudomonas aeruginosa but do not seem to have spread widely in Acinetobacter spp. and Enterobacteriaceae. Carbapenem-hydrolysing oxacillinases are prevalent in multidrug-resistant Acinetobacter spp. More insidious developments include the emergence of plasmid AmpC beta-lactamases and multifactorial quinolone resistance in Enterobacteriaceae.}, }
@article {pmid18941169, year = {2008}, author = {Noguchi, M and Yi, H and Rosenblatt, HM and Filipovich, AH and Adelstein, S and Modi, WS and McBride, OW and Leonard, WJ}, title = {Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {181}, number = {9}, pages = {5817-5827}, pmid = {18941169}, issn = {1550-6606}, support = {M01 RR00188/RR/NCRR NIH HHS/United States ; }, mesh = {Animals ; B-Lymphocytes ; History, 20th Century ; Humans ; Interleukin Receptor Common gamma Subunit/*genetics ; Mice ; *Mutation ; Pedigree ; T-Lymphocytes/immunology ; Thymus Gland/immunology ; X-Linked Combined Immunodeficiency Diseases/genetics/*history ; }, }
@article {pmid18850300, year = {2008}, author = {Scriver, CR}, title = {Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.}, journal = {Journal of inherited metabolic disease}, volume = {31}, number = {5}, pages = {580-598}, pmid = {18850300}, issn = {1573-2665}, mesh = {Albinism/history ; Alkaptonuria/history ; Carbohydrate Metabolism, Inborn Errors/history ; Cystinuria/history ; History, 20th Century ; History, 21st Century ; Humans ; London ; Metabolism, Inborn Errors/*history ; Pentoses/urine ; }, abstract = {Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garrod gave evidence for the dynamic nature of metabolism by showing involvement of normal metabolites in normal pathways made variant by Mendelian inheritance. His concepts and evidence were salient primarily among biochemists, controversial among geneticists because biometricians were dominant over Mendelists, and least salient among physicians who were not attracted to rare hereditary 'traits'. In 2008, at the centennial of Garrod's Croonian Lectures, each charter inborn error of metabolism has acquired its own genomic locus, a cloned gene, a repertoire of annotated phenotype-modifying alleles, a gene product with known structure and function, and altered function in the Mendelian variant.}, }
@article {pmid18831321, year = {2008}, author = {Roll-Hansen, N}, title = {Wishful science: the persistence of T. D. Lysenko's agrobiology in the politics of science.}, journal = {Osiris}, volume = {23}, number = {}, pages = {166-188}, doi = {10.1086/591873}, pmid = {18831321}, issn = {0369-7827}, mesh = {Agriculture/*history ; Communism/*history ; Genetics/*history ; *Historiography ; History, 20th Century ; Politics ; USSR ; }, abstract = {The suppression of genetics in Soviet Russia was the big scandal of twentieth-century science. It was also a test case for the role of scientists in a liberal democracy. The intellectual's perennial dilemma between scientific truthfulness and political loyalty was sharpened by acute ideological conflicts. The central topic of this essay is how the conflict was played out in Soviet agricultural and biological science in the 1930s and 1940s. The account is focused on the role of the then current Soviet science policy and its basic epistemic principles, the "unity of theory and practice" and the "practice criterion of truth".}, }
@article {pmid18775854, year = {2008}, author = {Watts, SW}, title = {The beginning of a fantastic, unanswered question: is 5-HT involved in systemic hypertension?.}, journal = {American journal of physiology. Heart and circulatory physiology}, volume = {295}, number = {3}, pages = {H915-H916}, doi = {10.1152/classicessays.zh4-8503.2008}, pmid = {18775854}, issn = {0363-6135}, mesh = {Animals ; Blood Pressure/drug effects ; Cardiovascular Physiological Phenomena ; History, 20th Century ; Humans ; Hypertension/genetics/history/*physiopathology ; Serotonin/history/pharmacology/*physiology ; }, abstract = {This essay examines the historical significance of an APS classic paper that is freely available online:}, }
@article {pmid18757886, year = {2008}, author = {Webb, TE and Poulter, M and Beck, J and Uphill, J and Adamson, G and Campbell, T and Linehan, J and Powell, C and Brandner, S and Pal, S and Siddique, D and Wadsworth, JD and Joiner, S and Alner, K and Petersen, C and Hampson, S and Rhymes, C and Treacy, C and Storey, E and Geschwind, MD and Nemeth, AH and Wroe, S and Collinge, J and Mead, S}, title = {Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.}, journal = {Brain : a journal of neurology}, volume = {131}, number = {Pt 10}, pages = {2632-2646}, pmid = {18757886}, issn = {1460-2156}, support = {MC_U123160651/MRC_/Medical Research Council/United Kingdom ; MC_U123160655/MRC_/Medical Research Council/United Kingdom ; MC_U123192748/MRC_/Medical Research Council/United Kingdom ; /DH_/Department of Health/United Kingdom ; }, mesh = {Adult ; Age of Onset ; Aged ; Brain/pathology ; Electrocardiography ; Electromyography ; England ; Europe ; Female ; Genealogy and Heraldry ; Genetic Testing ; Gerstmann-Straussler-Scheinker Disease/diagnosis/*genetics ; Haplotypes ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pedigree ; Phenotype ; *Point Mutation ; Prions/*genetics ; Tomography, X-Ray Computed ; }, abstract = {The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collection represents by far the largest series of P102L patients so far reported. Microsatellite and genealogical analyses of eight separate European kindreds support multiple distinct mutational events at a cytosine-phosphate diester-guanidine dinucleotide mutation hot spot. All of the smaller P102L kindreds were linked to polymorphic human prion protein gene codon 129M and were not connected by genealogy or microsatellite haplotype background to the large kindred or each other. While many present with classical Gerstmann-Sträussler-Scheinker syndrome, a slowly progressive cerebellar ataxia with later onset cognitive impairment, there is remarkable heterogeneity. A subset of patients present with prominent cognitive and psychiatric features and some have met diagnostic criteria for sporadic Creutzfeldt-Jakob disease. We show that polymorphic human prion protein gene codon 129 modifies age at onset: the earliest eight clinical onsets were all MM homozygotes and overall age at onset was 7 years earlier for MM compared with MV heterozygotes (P = 0.02). Unexpectedly, apolipoprotein E4 carriers have a delayed age of onset by 10 years (P = 0.02). We found a preponderance of female patients compared with males (54 females versus 30 males, P = 0.01), which probably relates to ascertainment bias. However, these modifiers had no impact on a semi-quantitative pathological phenotype in 10 autopsied patients. These data allow an appreciation of the range of clinical phenotype, modern imaging and molecular investigation and should inform genetic counselling of at-risk individuals, with the identification of two genetic modifiers.}, }
@article {pmid18716625, year = {2008}, author = {Yu, X and Tsibane, T and McGraw, PA and House, FS and Keefer, CJ and Hicar, MD and Tumpey, TM and Pappas, C and Perrone, LA and Martinez, O and Stevens, J and Wilson, IA and Aguilar, PV and Altschuler, EL and Basler, CF and Crowe, JE}, title = {Neutralizing antibodies derived from the B cells of 1918 influenza pandemic survivors.}, journal = {Nature}, volume = {455}, number = {7212}, pages = {532-536}, pmid = {18716625}, issn = {1476-4687}, support = {U19 AI057229/AI/NIAID NIH HHS/United States ; R01 AI042266/AI/NIAID NIH HHS/United States ; U19 AI62623/AI/NIAID NIH HHS/United States ; R37 AI042266/AI/NIAID NIH HHS/United States ; U54 AI057158/AI/NIAID NIH HHS/United States ; CA55896/CA/NCI NIH HHS/United States ; AI057158/AI/NIAID NIH HHS/United States ; R01 AI048677/AI/NIAID NIH HHS/United States ; U19 AI062623/AI/NIAID NIH HHS/United States ; U54 AI057157/AI/NIAID NIH HHS/United States ; P01 AI058113/AI/NIAID NIH HHS/United States ; U54 AI057157-019002/AI/NIAID NIH HHS/United States ; AI42266/AI/NIAID NIH HHS/United States ; R01 AI048677-04/AI/NIAID NIH HHS/United States ; U54 AI57158/AI/NIAID NIH HHS/United States ; }, mesh = {Aged, 80 and over ; Animals ; Antibodies, Monoclonal/genetics/immunology/isolation &amp; purification ; Antibodies, Viral/genetics/*immunology/*isolation &amp; purification ; B-Lymphocytes/*immunology ; Cell Line ; Cross Reactions/immunology ; *Disease Outbreaks/history ; Dogs ; Female ; History, 20th Century ; Humans ; Influenza A Virus, H1N1 Subtype/genetics/*immunology/physiology ; Influenza, Human/*immunology/virology ; Kinetics ; Mice ; Mice, Inbred BALB C ; Molecular Sequence Data ; Neutralization Tests ; *Survival ; }, abstract = {Investigation of the human antibody response to influenza virus infection has been largely limited to serology, with relatively little analysis at the molecular level. The 1918 H1N1 influenza virus pandemic was the most severe of the modern era. Recent work has recovered the gene sequences of this unusual strain, so that the 1918 pandemic virus could be reconstituted to display its unique virulence phenotypes. However, little is known about adaptive immunity to this virus. We took advantage of the 1918 virus sequencing and the resultant production of recombinant 1918 haemagglutinin (HA) protein antigen to characterize at the clonal level neutralizing antibodies induced by natural exposure of survivors to the 1918 pandemic virus. Here we show that of the 32 individuals tested that were born in or before 1915, each showed seroreactivity with the 1918 virus, nearly 90 years after the pandemic. Seven of the eight donor samples tested had circulating B cells that secreted antibodies that bound the 1918 HA. We isolated B cells from subjects and generated five monoclonal antibodies that showed potent neutralizing activity against 1918 virus from three separate donors. These antibodies also cross-reacted with the genetically similar HA of a 1930 swine H1N1 influenza strain, but did not cross-react with HAs of more contemporary human influenza viruses. The antibody genes had an unusually high degree of somatic mutation. The antibodies bound to the 1918 HA protein with high affinity, had exceptional virus-neutralizing potency and protected mice from lethal infection. Isolation of viruses that escaped inhibition suggested that the antibodies recognize classical antigenic sites on the HA surface. Thus, these studies demonstrate that survivors of the 1918 influenza pandemic possess highly functional, virus-neutralizing antibodies to this uniquely virulent virus, and that humans can sustain circulating B memory cells to viruses for many decades after exposure-well into the tenth decade of life.}, }
@article {pmid18689900, year = {2008}, author = {Raquin, AL and Depaulis, F and Lambert, A and Galic, N and Brabant, P and Goldringer, I}, title = {Experimental estimation of mutation rates in a wheat population with a gene genealogy approach.}, journal = {Genetics}, volume = {179}, number = {4}, pages = {2195-2211}, pmid = {18689900}, issn = {0016-6731}, mesh = {Alleles ; DNA, Plant/metabolism ; Genealogy and Heraldry ; Genetics, Population ; Microsatellite Repeats ; Models, Theoretical ; *Mutation ; Population Density ; Triticum/*genetics ; }, abstract = {Microsatellite markers are extensively used to evaluate genetic diversity in natural or experimental evolving populations. Their high degree of polymorphism reflects their high mutation rates. Estimates of the mutation rates are therefore necessary when characterizing diversity in populations. As a complement to the classical experimental designs, we propose to use experimental populations, where the initial state is entirely known and some intermediate states have been thoroughly surveyed, thus providing a short timescale estimation together with a large number of cumulated meioses. In this article, we derived four original gene genealogy-based methods to assess mutation rates with limited bias due to relevant model assumptions incorporating the initial state, the number of new alleles, and the genetic effective population size. We studied the evolution of genetic diversity at 21 microsatellite markers, after 15 generations in an experimental wheat population. Compared to the parents, 23 new alleles were found in generation 15 at 9 of the 21 loci studied. We provide evidence that they arose by mutation. Corresponding estimates of the mutation rates ranged from 0 to 4.97 x 10(-3) per generation (i.e., year). Sequences of several alleles revealed that length polymorphism was only due to variation in the core of the microsatellite. Among different microsatellite characteristics, both the motif repeat number and an independent estimation of the Nei diversity were correlated with the novel diversity. Despite a reduced genetic effective size, global diversity at microsatellite markers increased in this population, suggesting that microsatellite diversity should be used with caution as an indicator in biodiversity conservation issues.}, }
@article {pmid18660465, year = {2008}, author = {Galloway, JL and Tabin, CJ}, title = {Classic limb patterning models and the work of Dennis Summerbell.}, journal = {Development (Cambridge, England)}, volume = {135}, number = {16}, pages = {2683-2687}, pmid = {18660465}, issn = {0950-1991}, support = {L40 HD057084-01/HD/NICHD NIH HHS/United States ; F32 HD057701-01/HD/NICHD NIH HHS/United States ; F32 HD057701/HD/NICHD NIH HHS/United States ; R37 HD032443/HD/NICHD NIH HHS/United States ; L40 HD057084/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Body Patterning/*physiology ; Developmental Biology/history ; Extremities/*embryology ; History, 20th Century ; History, 21st Century ; Limb Buds/embryology ; Models, Biological ; }, abstract = {Dennis Summerbell was a leading contributor to our understanding of limb patterning prior to the advent of molecular biology. He published several groundbreaking papers, including one that developed a key model for patterning the limb from the shoulder to the fingertips and another that presented the co-discovery of the effect of retinoids on limb morphogenesis. He brought detailed quantitative analyses to bear on these studies, as highlighted in two of his insightful papers published in the Journal of Embryology and Experimental Morphology, in which he provided elegant models that, today, remain relevant to limb patterning, as well as to many disciplines of developmental biology.}, }
@article {pmid18652542, year = {2008}, author = {Crow, JF}, title = {Mid-century controversies in population genetics.}, journal = {Annual review of genetics}, volume = {42}, number = {}, pages = {1-16}, doi = {10.1146/annurev.genet.42.110807.091612}, pmid = {18652542}, issn = {0066-4197}, mesh = {Animals ; Evolution, Molecular ; *Genetics, Population/history ; History, 20th Century ; Models, Genetic ; }, abstract = {Beginning in the 1930s, evolution became an experimental subject. New techniques, especially in Drosophila, made possible quantitative analysis of natural populations. In addition to a large number of studies on many species, there were four major controversies that dominated much of the discussion and experimentation. Some of the arguments were quite heated. These controversies were: Wright vs Fisher on Wright's shifting-balance theory; dominance vs overdominance as an explanation of heterosis; the classical vs balance hypothesis for genetic variability; the neutral theory of molecular evolution. Curiously, most of these issues were not really resolved. Rather they were abandoned in favor of more tractable studies made possible by the new molecular methods.}, }
@article {pmid18641938, year = {2008}, author = {Arias, AM}, title = {Drosophila melanogaster and the development of biology in the 20th century.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {420}, number = {}, pages = {1-25}, doi = {10.1007/978-1-59745-583-1_1}, pmid = {18641938}, issn = {1064-3745}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {Animals ; Developmental Biology/*history ; Drosophila Proteins/genetics ; Drosophila melanogaster/*genetics/*physiology ; Female ; Genes, Insect ; Genome ; History, 20th Century ; Homozygote ; Humans ; Male ; Models, Biological ; Models, Genetic ; Molecular Biology ; Mutation ; }, abstract = {The fruit fly Drosophila has played a central role in the development of biology during the 20th century. First chosen as a convenient organism to test evolutionary theories soon became the central element in an elaborate, fruitful, and insightful research program dealing with the nature and function of the gene. Through the activities of TH Morgan and his students, Drosophila did more than any other organism to lay down the foundations of genetics as a discipline and a tool for biology. In the last third of the century, a judicious blend of classical genetics and molecular biology focused on some mutants affecting the pattern of the Drosophila larva and the adult, and unlocked the molecular mechanisms of development. Surprisingly, many of the genes identified in this exercise turned to be conserved across organisms. This observation provided a vista of universality at a fundamental level of biological activity. At the dawn of the 21st century, Drosophila continues to be center stage in the development of biology and to open new ways of seeing cells and to understand the construction and the functioning of organisms.}, }
@article {pmid18641294, year = {2008}, author = {Klemsz, MJ and McKercher, SR and Celada, A and Van Beveren, C and Maki, RA}, title = {Pillars article: the macrophage and B cell-specific transcription factor PU.1 is related to the ets oncogene. Cell, 1990. 61: 113-124.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {181}, number = {3}, pages = {1597-1608}, pmid = {18641294}, issn = {1550-6606}, support = {AI20194/AI/NIAID NIH HHS/United States ; }, mesh = {Allergy and Immunology/history ; Animals ; B-Lymphocytes/*metabolism ; History, 20th Century ; Macrophages/*metabolism ; Proto-Oncogene Proteins/chemistry/*genetics/*history/metabolism ; Proto-Oncogene Proteins c-ets/chemistry/*genetics ; Trans-Activators/chemistry/*genetics/*history/metabolism ; }, }
@article {pmid18597148, year = {2008}, author = {Varmus, HE and Vogt, PK and Bishop, JM}, title = {The classic: integration of deoxyribonucleic acid specific for Rous sarcoma virus after infection of permissive and nonpermissive hosts: (RNA tumor viruses/reassociation kinetics/duck cells). 1973.}, journal = {Clinical orthopaedics and related research}, volume = {466}, number = {9}, pages = {2031-2038}, pmid = {18597148}, issn = {1528-1132}, mesh = {Animals ; Cell Transformation, Neoplastic ; DNA, Viral/biosynthesis/isolation &amp; purification ; Ducks ; History, 20th Century ; History, 21st Century ; Retroviridae Infections/genetics ; Rous sarcoma virus/*genetics ; Sarcoma, Avian/genetics/*history ; Tumor Virus Infections/genetics ; Virus Integration/*genetics ; Virus Replication/genetics ; }, abstract = {A relatively simple but stringent technique was developed to detect the integration of virus-specific DNA into the genomes of higher organisms. In both permissive (duck) and nonpermissive (mammalian) cells which normally contain no nucleotide sequences specific for Rous sarcoma virus, transformation by the virus results in the appearance of DNA specific for Rous sarcoma virus covalently integrated into strands of host-cell DNA containing reiterated sequences. Early after infection of mouse or duck cells by Rous sarcoma virus, unintegrated DNA specific for the virus can be demonstrated.}, }
@article {pmid18522982, year = {2008}, author = {Haldane, JB}, title = {A defense of beanbag genetics. 1964.}, journal = {International journal of epidemiology}, volume = {37}, number = {3}, pages = {435-442}, doi = {10.1093/ije/dyn056}, pmid = {18522982}, issn = {1464-3685}, mesh = {Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Mutation/genetics ; United States ; }, }
@article {pmid18481303, year = {2008}, author = {González-José, R and Bortolini, MC and Santos, FR and Bonatto, SL}, title = {The peopling of America: craniofacial shape variation on a continental scale and its interpretation from an interdisciplinary view.}, journal = {American journal of physical anthropology}, volume = {137}, number = {2}, pages = {175-187}, doi = {10.1002/ajpa.20854}, pmid = {18481303}, issn = {1096-8644}, mesh = {American Indian or Alaska Native/*history ; Americas ; Anthropology, Physical ; DNA, Mitochondrial/chemistry ; Emigration and Immigration/*history ; Face/*anatomy &amp; histology ; Female ; Fossils ; Gene Flow ; Genetics, Population ; Haplotypes ; History, Ancient ; Humans ; Male ; *Population Dynamics ; Sequence Analysis, DNA ; Skull/*anatomy &amp; histology ; }, abstract = {Twenty-two years ago, Greenberg, Turner and Zegura (Curr. Anthropol. 27,477-495, 1986) suggested a multidisciplinary model for the human settlement of the New World. Since their synthesis, several studies based mainly on partial evidence such as skull morphology and molecular genetics have presented competing, apparently mutually exclusive, settlement hypotheses. These contradictory views are represented by the genetic-based Single Wave or Out of Beringia models and the cranial morphology-based Two Components/Stocks model. Here, we present a geometric morphometric analysis of 576 late Pleistocene/early Holocene and modern skulls suggesting that the classical Paleoamerican and Mongoloid craniofacial patterns should be viewed as extremes of a continuous morphological variation. Our results also suggest that recent contact among Asian and American circumarctic populations took place during the Holocene. These results along with data from other fields are synthesized in a model for the settlement of the New World that considers, in an integrative and parsimonious way, evidence coming from genetics and physical anthropology. This model takes into account a founder population occupying Beringia during the last glaciation characterized by high craniofacial diversity, founder mtDNA and Y-chromosome lineages and some private autosomal alleles. After a Beringian population expansion, which could have occurred concomitant with their entry into America, more recent circumarctic gene flow would have enabled the dispersion of northeast Asian-derived characters and some particular genetic lineages from East Asia to America and vice versa.}, }
@article {pmid18431060, year = {2008}, author = {Losowsky, MS}, title = {A history of coeliac disease.}, journal = {Digestive diseases (Basel, Switzerland)}, volume = {26}, number = {2}, pages = {112-120}, doi = {10.1159/000116768}, pmid = {18431060}, issn = {1421-9875}, mesh = {Celiac Disease/complications/enzymology/*history/pathology ; Dermatitis Herpetiformis/etiology/history ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; Intestinal Neoplasms/etiology/history ; Intestine, Small/pathology ; Lymphoma/etiology/history ; Transglutaminases/metabolism ; Ulcer/etiology/history ; }, abstract = {Coeliac disease may have an ancient history dating back to the 1st and 2nd centuries AD. The first clear description was given by Samuel Gee in 1888. He suggested that dietary treatment might be of benefit. In the early 20th century various diets were tried, with some success, but without clear recognition of the toxic components. The doctoral thesis of Wim Dicke of 1950 established that exclusion of wheat, rye and oats from the diet led to dramatic improvement. The toxicity was shown to be a protein component, referred to as gluten. Dicke's colleagues, Weijers and Van de Kamer, showed that measurement of stool fat reflected the clinical condition. Early studies were in children but stool fat measurements documented that the condition could be recognised in adults. Histological abnormalities of the lining of the small intestine were demonstrated beyond doubt by Paulley in 1954 and techniques of per-oral biopsy described by Royer in 1955 and Shiner in 1956 afforded reliable diagnosis. Concurrence in monozygotic twins suggested a genetic component, confirmed by studies of HLA antigens. Additional, non-genetic factors seem likely. Circulating antibodies suggest an immunological mechanism of damage and provide non-invasive screening tests. Lymphoma, adenocarcinoma and ulceration of the small intestine and a range of immunological disorders are associated. A relationship with dermatitis herpetiformis was suggested by Samman in 1955 and established by Shuster and Marks in 1965 and 1968. The Coeliac Society (now Coeliac UK) was founded in 1968 and similar societies now exist across the world. They provide an extremely valuable service. Present problems include definition of the tolerated levels of gluten, whether oats are toxic for some or all coeliacs and the likelihood that the condition is relatively common and frequently without classical symptoms. Hope for the future is that more convenient methods of treatment will follow better understanding.}, }
@article {pmid18410845, year = {2008}, author = {Koenig, MK}, title = {Presentation and diagnosis of mitochondrial disorders in children.}, journal = {Pediatric neurology}, volume = {38}, number = {5}, pages = {305-313}, pmid = {18410845}, issn = {0887-8994}, support = {KL2 RR024149/RR/NCRR NIH HHS/United States ; KL2 RR024149-05S1/RR/NCRR NIH HHS/United States ; }, mesh = {Brain/*pathology ; Child ; DNA, Mitochondrial/*genetics ; History, 20th Century ; History, 21st Century ; Humans ; Mitochondrial Diseases/epidemiology/*genetics/history/*pathology ; *Mutation ; }, abstract = {The first disorder of mitochondrial function was described by Luft in 1959. Over the ensuing decades, multiple cases of mitochondrial dysfunction were reported, and the term "mitochondrial disorder" arose to describe any defect in the mitochondrial electron transport chain. The sequence of the mitochondrial genome was elucidated in 1981 by Anderson et al., and during the next 20 years, >200 pathogenic point mutations, deletions, insertions, and rearrangements were described. Most of the original cases were adults, and the diagnosis of a mitochondrial disorder in an adult patient became relatively straightforward. Adults present with well-defined "mitochondrial syndromes" and generally carry mitochondrial DNA mutations that are easily identified. Children with mitochondrial disorders are much harder to define. Children are more likely to have a nuclear DNA mutation, whereas the "classic" syndromic findings tend to be absent. This review describes both the varying presentations of mitochondrial disorders and the common laboratory, imaging, and pathologic findings related to children.}, }
@article {pmid18380053, year = {2007}, author = {Richmond, ML}, title = {Muriel Wheldale Onslow and early biochemical genetics.}, journal = {Journal of the history of biology}, volume = {40}, number = {3}, pages = {389-426}, pmid = {18380053}, issn = {0022-5010}, mesh = {Biochemistry/history ; History, 20th Century ; Molecular Biology/*history ; Pigments, Biological/genetics/history ; United Kingdom ; }, abstract = {Muriel Whedale, a distinguished graduate of Newnham College, Cambridge, was a member of William Bateson's school of genetics at Cambridge University from 1903. Her investigation of flower color inheritance in snapdragons (Antirrhinum), a topic of particular interest to botanists, contributed to establishing Mendelism as a powerful new tool in studying heredity. Her understanding of the genetics of pigment formation led her to do cutting-edge work in biochemistry, culminating in the publication of her landmark work, The Anthocyanin Pigments of Plants (1916). In 1915, she joined Frederick Gowland Hopkin's Department of Biochemistry as assistant and in 1926 became one of the first women to be appointed university lecturer. In 1919 she married the biochemist Huia Onslow, with whom she collaborated until his death in 1922. This paper examines Whedale's work in genetics and especially focuses on the early linkage of Mendelian methodology with new techniques in biochemistry that eventually led to the founding of biochemical genetics. It highlights significant issues in the early history of women in genetics, including the critical role of mentors, funding opportunities, and career strategies.}, }
@article {pmid18362452, year = {2008}, author = {Zengi, A and Karadeniz, M and Erdogan, M and Ozgen, AG and Saygili, F and Yilmaz, C and Kabalak, T}, title = {Does Chernobyl accident have any effect on thyroid cancers in Turkey? A retrospective review of thyroid cancers from 1982 to 2006.}, journal = {Endocrine journal}, volume = {55}, number = {2}, pages = {325-330}, doi = {10.1507/endocrj.k08e-007}, pmid = {18362452}, issn = {1348-4540}, mesh = {Adenocarcinoma, Follicular/*epidemiology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Papillary/*epidemiology ; *Chernobyl Nuclear Accident ; Female ; Humans ; Incidence ; Male ; Middle Aged ; Neoplasms, Radiation-Induced/*epidemiology ; Retrospective Studies ; Thyroid Neoplasms/*epidemiology ; Turkey/epidemiology ; }, abstract = {Besides the genetic and environmental factors, radiation is an important aetiological cause in the occurrence of thyroid cancer (TC), particularly papillary carcinoma. Chernobyl disaster led to a dramatic increase in the frequency of TC in Eastern Europe. We aimed to determine the data of TC in our unit from 1982 to 2006 and whether Chernobyl disaster has a possible effect on TC distribution. The data of 351 patients with TC are reviewed retrospectively. The dates at diagnosis were classified in five time periods. The ratios of TCs in our unit were concordant with the literature. Comparing the five 5-year periods, there was a significant decrease in the ratio of follicular carcinoma (p<0.01) although the ratio of other thyroid cancers did not change (p>0.05). The ratio of papillary microcarcinoma increased (p<0.01) while the ratio of classical form decreased (p<0.01). The differences between the time periods and the mean ages at diagnosis for each TCs were not significant (p>0.05). If Chernobyl disaster had any effect, the mean age at diagnosis would be younger. The decrease in the ratio of follicular carcinoma in our study may be due to iodine supplementation. The higher ratio of papillary microcarcinoma can be related to increased diagnostic scrutiny. Epidemiological studies are necessary to determine TC incidence in Turkey.}, }
@article {pmid18322820, year = {2007}, author = {Tomasini, F}, title = {Imagining human enhancement: whose future, which rationality?.}, journal = {Theoretical medicine and bioethics}, volume = {28}, number = {6}, pages = {497-507}, doi = {10.1007/s11017-007-9055-8}, pmid = {18322820}, issn = {1386-7415}, mesh = {*Eugenics/history/trends ; *Genetic Enhancement/ethics ; History, 20th Century ; Humans ; Individuality ; *Moral Obligations ; Political Systems ; *Social Justice ; }, abstract = {This article critically evaluates bettering human life. Because this involves lives that do not exist yet, the article investigates human eugenics and enhancement through the social prism of 'the imaginary' (defined 'as a set of assumptions and concepts for thinking and speaking about human enhancement and its future direction') [1]. "Exploring basic assumptions underlying the idea of human enhancement" investigates underlying assumptions and claims for human enhancement. Firstly, human eugenics and enhancement entangles a factual as well as a normative claim about what improvement/betterment maybe constitutive of. Secondly, claims about what a better life is, is often a future orientated claim about whether certain kinds of life that do not exist yet should ever exist. Moral images of thought are introduced and how they work to make normative judgments about lives that do not exist. This implicates the moral problem of difference, where an image of a 'better' life-classically expressed in eugenics as a 'superior' and/or 'normal' life-necessarily entails inferiority and/or deviance from a norm. "Moral imagination in contemporary fiction and the history of old eugenics", introduces moral images in history of eugenics and demonstrates how examples fall foul of the problem. "The new (liberal) eugenics and the moral image of therapy" examines progress in contemporary debates, the move from authoritarian to non-authoritarian eugenics (human enhancement), and how, to some extent, this has solved the problem of difference, through liberal defence of personal choice. "The heart of the eugenic issue" suggests that personal choice in liberal non-authoritarian eugenics is not immune to basic drive behind all eugenic arguments; desire as lack which is expressed as the continual dissatisfaction of not having our future expectations met.}, }
@article {pmid18292490, year = {2008}, author = {Spies, T and Bresnahan, M and Bahram, S and Arnold, D and Blanck, G and Mellins, E and Pious, D and DeMars, R}, title = {A gene in the human major histocompatibility complex class II region controlling the class I antigen presentation pathway. 1990.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {180}, number = {5}, pages = {2737-2740}, pmid = {18292490}, issn = {0022-1767}, mesh = {Amino Acid Sequence ; Antigen Presentation/*genetics ; Base Sequence ; Biological Transport, Active/genetics/immunology ; Cell Line, Transformed ; Genes, MHC Class II/*immunology ; Histocompatibility Antigens Class I/*history ; Histocompatibility Antigens Class II/*history ; History, 20th Century ; Humans ; Molecular Sequence Data ; Signal Transduction/genetics/*immunology ; }, }
@article {pmid18292488, year = {2008}, author = {Deverson, EV and Gow, IR and Coadwell, WJ and Monaco, JJ and Butcher, GW and Howard, JC}, title = {MHC class II region encoding proteins related to the multidrug resistance family of transmembrane transporters. 1990.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {180}, number = {5}, pages = {2729-2732}, pmid = {18292488}, issn = {0022-1767}, mesh = {ATP Binding Cassette Transporter, Subfamily B, Member 2 ; ATP-Binding Cassette Transporters/*history ; Amino Acid Sequence ; Animals ; Base Sequence ; Biological Transport ; Cell Line, Transformed ; *Drug Resistance, Multiple ; Histocompatibility Antigens Class II/*history ; History, 20th Century ; Humans ; Membrane Transport Proteins/*history ; Mice ; Mice, Inbred BALB C ; Molecular Sequence Data ; Multigene Family/*immunology ; Rats ; }, }
@article {pmid18292487, year = {2008}, author = {Monaco, JJ and Cho, S and Attaya, M}, title = {Transport protein genes in the murine MHC: possible implications for antigen processing. 1990.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {180}, number = {5}, pages = {2725-2728}, pmid = {18292487}, issn = {0022-1767}, mesh = {ATP Binding Cassette Transporter, Subfamily B, Member 2 ; ATP Binding Cassette Transporter, Subfamily B, Member 3 ; ATP-Binding Cassette Transporters/*history ; Amino Acid Sequence ; Animals ; Antigen Presentation/*genetics ; Base Sequence ; Cell Line, Tumor ; Cricetinae ; History, 20th Century ; Humans ; Major Histocompatibility Complex/*genetics/immunology ; Mice ; Mice, Inbred BALB C ; Molecular Sequence Data ; *Multigene Family ; T-Lymphocytes, Cytotoxic/immunology/metabolism ; }, }
@article {pmid18292486, year = {2008}, author = {Van Kaer, L}, title = {Pillars article: antigen presentation: discovery of the peptide TAP.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {180}, number = {5}, pages = {2723-2724}, doi = {10.4049/jimmunol.180.5.2723}, pmid = {18292486}, issn = {0022-1767}, mesh = {ATP Binding Cassette Transporter, Subfamily B, Member 2 ; ATP Binding Cassette Transporter, Subfamily B, Member 3 ; ATP-Binding Cassette Transporters/*history ; Animals ; Antigen Presentation/genetics/*immunology ; History, 20th Century ; Humans ; Membrane Transport Proteins/*history ; T-Lymphocytes, Cytotoxic/immunology/metabolism/virology ; }, }
@article {pmid18268510, year = {2008}, author = {Satzinger, H}, title = {Theodor and Marcella Boveri: chromosomes and cytoplasm in heredity and development.}, journal = {Nature reviews. Genetics}, volume = {9}, number = {3}, pages = {231-238}, doi = {10.1038/nrg2311}, pmid = {18268510}, issn = {1471-0064}, mesh = {Cell Division ; Chromosome Disorders ; Chromosomes/*genetics ; Cytoplasm/genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {The chromosome theory of heredity, developed in 1902-1904, became one of the foundation stones of twentieth-century genetics. It is usually referred to as the Sutton-Boveri theory after Walter Sutton and Theodor Boveri. However, the contributions of Theodor Boveri and his co-worker, Marcella O'Grady Boveri (also his wife), to the understanding of heredity and development go beyond the localization of the Mendelian hereditary factors onto the chromosomes. They investigated the interaction of cytoplasm and chromosomes, and demonstrated its relevance in heredity and development.}, }
@article {pmid18232327, year = {2008}, author = {Segawa, M}, title = {[Segawa disease].}, journal = {Brain and nerve = Shinkei kenkyu no shinpo}, volume = {60}, number = {1}, pages = {5-11}, pmid = {18232327}, issn = {1881-6096}, mesh = {Aging ; Brain/metabolism ; Dopamine/physiology ; Dystonia/diagnosis/drug therapy/genetics/*history ; Female ; GTP Cyclohydrolase/genetics/metabolism ; History, 20th Century ; Humans ; Levodopa/therapeutic use ; Phenotype ; Pteridines/metabolism ; }, abstract = {The first report of Segawa disease was a report of two girls, cousin each other, with dystonic posture, under the title of "Hereditary progressive basal ganglia disorder" in 1971. After accumulation of cases with an adult case, I confirmed this disease does not transform to Parkinson's disease in adulthood and published with a nomenclature of "Hereditary progressive dystonia with marked diurnal fluctuation" in 1976. Polysomnographical examination for evaluating the sleep effects and correlation of the natural course to the age variation of the tyrosine hydroxylase activities in the striatum, these speculated this is a particular disorder caused by non-progressive decrement of the tyrosine hydroxylase at the terminal of the nigrostriatal dopamine neuron. This was supported by PET studies in early 1990's. Evaluation of pteridine metabolites in cerebrospinal fluid revealed partial decrement of the GTP cyclohydrolase I as the cause of this disease and induced the discovery of the causative gene. After the discovery of the gene, an autopsied case with dopa-responsive dystonia was confirmed as Segawa disease and the neuropathological and histochemical findings confirmed the hypothesis. Furthermore, these showed rather selective involvement the D1-direct pathways in the disease. However, it was also clarified existence of two types, one, classic type, postural dystonia and the other action dystonia with vigorous dystonic movements besides dystonic posture, which, is postulated to be caused by the dopamine neuron innervating to the subthalamic nucleus with D1 neuron. Existence of these two phenotypes also provides phenotypical variation of Segawa disease.}, }
@article {pmid18217472, year = {2007}, author = {Hincak, Z and Drmić-Hofman, I and Mihelić, D}, title = {Anthropological analysis of neolithic and Early Bronze Age skeletons--a classical and molecular approach (East Slavonia, Croatia).}, journal = {Collegium antropologicum}, volume = {31}, number = {4}, pages = {1135-1141}, pmid = {18217472}, issn = {0350-6134}, mesh = {Adult ; Archaeology ; Bone and Bones/*anatomy &amp; histology ; DNA/*analysis ; Female ; History, Ancient ; Humans ; Male ; *Paleontology ; Skeleton ; }, abstract = {Theories about the first Indo-European migration are numerous. Significant contribution in attempt to resolve these theories is given by analysing skeletal material from two biggest prehistoric archaeological sites from N-E Croatia. Eight skeletons of Starcevo culture from sites "Nama" and "Hotel" at Vinkovci (6100-5500 BC) and seven skeletons of Vucedol culture from the site Vineyard Streim at Vucedol near Vukovar (3000-2500 BC) were analysed. Methods of classical anthropological analysis tried to distinguish the differences among members of both populations, while the methods of molecular genetics were used in defining possible genetic structure of both ancient populations. Established differences speak on the behalf of the theory of Maria Gimbutas about the first Indo-European migration with a cattle breeding population from the east around 3500 BC.}, }
@article {pmid18202447, year = {2007}, author = {Geeta, R and Gharaibeh, W}, title = {Historical evidence for a pre-Columbian presence of Datura in the Old World and implications for a first millennium transfer from the New World.}, journal = {Journal of biosciences}, volume = {32}, number = {7}, pages = {1227-1244}, pmid = {18202447}, issn = {0250-5991}, mesh = {Americas ; Asia ; *Biological Evolution ; China ; Datura/classification/genetics/*physiology ; Europe ; History, 15th Century ; History, 16th Century ; History, Ancient ; Humans ; Population Dynamics ; Transportation/history ; }, abstract = {Datura (Solanaceae)is a small genus of plants that,for long, was thought to occur naturally in both the New and Old Worlds. However, recent studies indicate that all species in the genus originated in the Americas. This finding has prompted the conclusion that no species of Datura could have been present in the Old World prior to its introduction there by Europeans in the early 16th century CE. Further, the textual evidence traditionally cited in support of a pre-Columbian Old World presence of Datura species is suggested to be due to the misreading of classical Greek and Arabic sources. As a result, botanists generally accept the opinion that Datura species were transferred into the Old World in the post-Columbian period. While the taxonomic and geographic evidence for a New World origin for all the Datura species appears to be well supported, the assertion that Datura species were not known in the Old World prior to the 16th century is based on a limited examination of the pre-Columbian non-Anglo sources. We draw on old Arabic and Indic texts and southern Indian iconographic representations to show that there is conclusive evidence for the pre-Columbian presence of at least one species of Datura in the Old World. Given the systematic evidence for a New World origin of the genus, the most plausible explanation for this presence is a relatively recent but pre-Columbian (probably first millennium CE) transfer of at least one Datura species, D. metel, into the Old World. Because D. metel is a domesticated species with a disjunct distribution,this might represent an instance of human-mediated transport from the New World to the Old World, as in the case of the sweet potato (Ipomoea batatas).}, }
@article {pmid18196378, year = {2008}, author = {Badgley, CE}, title = {Etiology of congenital dislocation of the hip : Carl E. Badgley MD (1893-1973). The 11th president of the AAOS 1942.}, journal = {Clinical orthopaedics and related research}, volume = {466}, number = {1}, pages = {90-103}, pmid = {18196378}, issn = {0009-921X}, mesh = {Hip Dislocation, Congenital/*history ; History, 19th Century ; History, 20th Century ; Humans ; Orthopedics/history ; }, abstract = {Dr. Carl E. Badgley was born in 1893, the son of a Presbyterian minister [2]. He received his medical degree at the University of Michigan in 1919, and became interested in orthopaedic surgery owing to Drs. Hugh Cabot and LeRoy Abbott. He was appointed as an instructor of surgery in 1920 and was appointed professor and head of the Section of Orthopaedic Surgery in 1932, an appointment he retained until 1963 when he retired. Dr. Badgley, devoted to his home state, was active in organizing institutions and organizations within Michigan. These included the Rackham Arthritis Research Unit within the hospital devoted exclusively to arthritis research and the Michigan Crippled Children Commission. He was active in the Board of Control of Intercollegiate Athletics. As President of the AAOS in 1942, he faced challenges organizing the 1943 meeting owing to the war years and many parts of the social program, particularly for the spouses, were eliminated [3]. (Travel was limited in part due to rationing of gas and a reduction in some public transportation since the war effort had priority on petroleum products.) Of the 235 members and 461 guests attending the 11[th] Annual Meeting in 1943, 203 of the men were in the military service. Nonetheless, during his year of Presidency of the AAOS, Instructional Course Lectures (13 courses) were introduced at the 1942 annual meeting (at a cost of $1.00 per course) and were an immediate success [3]. They were first published the following year (1943) by J.W. Edwards Co., of Ann Arbor, Michigan (who continued to publish the ICL through 1958), under the editorship of a future AAOS President, Dr. Tommy Thomson. The article we reproduce here details the two major theories of congenital dislocation of the hip: “a primary germinal fault…(and)…a defect of development of environmental origin” [1]. As a true scientist, he commented, “The most commonly accepted theory of developmental abnormality is a primary failure of proper formation of the acetabulum, particularly a germinal failure of development of the posterior superior buttress of the ilium…It is difficult to see how an observer, unless influenced by the weight of pre-existing statements and concepts, can authoritatively state a hypothesis as an accepted fact. The author denies dogmatically, for example, that there is scientific evidence of a primary genetic developmental fault of the posterior superior portion of the acetabulum. He does not refute the existence of such a lesion, but contends that no satisfactory evidence has been submitted that this lesion is the primary developmental fault.” How often do we make our judgments based on the “weight of preexisting statements,” rather than compelling observations and data? Also as a true scientist, his thorough review leads to and ends with a hypothesis: “Congenital dislocation and congenital dysplasia of the hip may be regarded as the result of faulty development, due to environmental factors extrinsic to the hip joint. An inherited fault in the timing of development may produce these extrinsic changes… Heredity can play an important part in altering the growth and time factors.” Despite astonishing technical advances, we have the same working hypothesis today and DDH may indeed be related to the timing of genetically controlled events in conjunction with external factors; the details of the genetic factors are being explored with tools not available to Dr. Badgley, but we seem no closer to the larger answer. [Figure: see text] References 1. Badgley CE. Etiology of congenital dislocation of the hip. J Bone Joint Surg Am. 1949;31:341–356. 2. Carl E. Badgley, M.D. 1893–1973. J Bone Joint Surg Am. 1973;55:1112–1113. 3. Heck CV. Fifty Years of Progress: In Recognition of the 50th Anniversary of the American Academy of Orthopaedic Surgeons. Chicago, IL: American Academy of Orthopaedic Surgeons; 1983.}, }
@article {pmid18175639, year = {2007}, author = {Engstrom, EJ}, title = {'On the question of degeneration' by Emil Kraepelin (1908).}, journal = {History of psychiatry}, volume = {18}, number = {71 Pt 3}, pages = {389-404}, doi = {10.1177/0957154X07079689}, pmid = {18175639}, issn = {0957-154X}, mesh = {Epidemiology/history ; Eugenics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; Mental Disorders/genetics/history ; Psychiatry/*history ; }, }
@article {pmid18175605, year = {2007}, author = {Steffes, DM}, title = {Panpsychic organicism: Sewall Wright's philosophy for understanding complex genetic systems.}, journal = {Journal of the history of biology}, volume = {40}, number = {2}, pages = {327-361}, pmid = {18175605}, issn = {0022-5010}, mesh = {Animals ; Biological Evolution ; Biometry/*history ; Breeding/*history ; Genetics/*history ; Genetics, Population/history ; History, 20th Century ; Models, Genetic ; *Phenotype ; Philosophy/history ; }, abstract = {Sewall Wright first encountered the complex systems characteristic of gene combinations while a graduate student at Harvard's Bussey Institute from 1912 to 1915. In Mendelian breeding experiments, Wright observed a hierarchical dependence of the organism's phenotype on dynamic networks of genetic interaction and organization. An animal's physical traits, and thus its autonomy from surrounding environmental constraints, depended greatly on how genes behaved in certain combinations. Wright recognized that while genes are the material determinants of the animal phenotype, operating with great regularity, the special nature of genetic systems contributes to the animal phenotype a degree of spontaneity and novelty, creating unpredictable trait variations by virtue of gene interactions. As a result of his experimentation, as well as his keen interest in the philosophical literature of his day, Wright was inspired to see genetic systems as conscious, living organisms in their own right. Moreover, he decided that since genetic systems maintain ordered stability and cause unpredictable novelty in their organic wholes (the animal phenotype), it would be necessary for biologists to integrate techniques for studying causally ordered phenomena (experimental method) and chance phenomena (correlation method). From 1914 to 1921 Wright developed his "method of path coefficient" (or "path analysis"), a new procedure drawing from both laboratory experimentation and statistical correlation in order to analyze the relative influence of specific genetic interactions on phenotype variation. In this paper I aim to show how Wright's philosophy for understanding complex genetic systems (panpsychic organicism) logically motivated his 1914-1921 design of path analysis.}, }
@article {pmid18096996, year = {2008}, author = {Schatz, DG and Oettinger, MA and Baltimore, D}, title = {Pillars article: the V(D)J recombination activating gene, RAG-1. 1989.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {180}, number = {1}, pages = {5-18}, pmid = {18096996}, issn = {0022-1767}, mesh = {Amino Acid Sequence ; Animals ; Base Sequence ; *Gene Rearrangement ; History, 20th Century ; Homeodomain Proteins/genetics/*history/physiology ; Humans ; Immunoglobulin Variable Region/genetics/*history ; Mice ; Molecular Sequence Data ; }, }
@article {pmid17986519, year = {2007}, author = {Gibaldi, M}, title = {Pharmacogenetics: part I: Perspective. 1992.}, journal = {The Annals of pharmacotherapy}, volume = {41}, number = {12}, pages = {2042-2047}, doi = {10.1345/aph.140071}, pmid = {17986519}, issn = {1542-6270}, mesh = {History, 20th Century ; Humans ; Pharmacogenetics/*history ; }, }
@article {pmid17986512, year = {2007}, author = {Gibaldi, M}, title = {Pharmacogenetics: part II: Perspective. 1992.}, journal = {The Annals of pharmacotherapy}, volume = {41}, number = {12}, pages = {2048-2054}, doi = {10.1345/aph.140072}, pmid = {17986512}, issn = {1542-6270}, mesh = {History, 20th Century ; Humans ; Pharmacogenetics/*history ; }, }
@article {pmid17970422, year = {2007}, author = {Kingsland, SE}, title = {Maintaining continuity through a scientific revolution: a rereading of E. B. Wilson and T. H. Morgan on sex determination and Mendelism.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {98}, number = {3}, pages = {468-488}, doi = {10.1086/521153}, pmid = {17970422}, issn = {0021-1753}, mesh = {Female ; Genetics, Population/*history ; History, 20th Century ; Humans ; Male ; Philosophy, Medical/*history ; Science/history ; *Sex Determination Processes ; }, abstract = {A rereading of the American scientific literature on sex determination from 1902 to 1926 leads to a different understanding of the construction of the Mendelian-chromosome theory after 1910. There was significant intellectual continuity, which has not been properly appreciated, underlying this scientific "revolution." After reexamining the relationship between the ideas of key scientists, in particular Edmund B. Wilson and Thomas Hunt Morgan, I argue that, contrary to the historical literature, Wilson and Morgan did not adopt opposing views on Mendelism and sex determination. Rather, each preferred a non-Mendelian explanation of the determination of sex. Around 1910, both integrated the Mendelian and non-Mendelian theories to create a synthetic theory. One problem was the need to avoid an overly deterministic view of sex while also accepting the validity of Mendelism. Morgan's discovery of mutations on the X chromosome takes on different significance when set in the context of the debate about sex determination, and Calvin Bridges's work on sex determination is better seen as a development of Morgan's ideas, rather than a departure from them. Conclusions point to the role of synthesis within fields as a way to advance scientific theories and reflect on the relationship between synthesis and explanatory "pluralism" in biology.}, }
@article {pmid17902290, year = {2007}, author = {Mallavarapu, RK and Grimsley, EW}, title = {The history of lupus erythematosus.}, journal = {Southern medical journal}, volume = {100}, number = {9}, pages = {896-898}, doi = {10.1097/SMJ.0b013e318073c9eb}, pmid = {17902290}, issn = {0038-4348}, mesh = {History, 16th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; History, Medieval ; Humans ; Lupus Erythematosus, Cutaneous/history ; Lupus Erythematosus, Systemic/diagnosis/*history/therapy ; Terminology as Topic ; }, abstract = {This article explores the history of lupus erythematosus from the origins of the name to the most modern therapeutic advances. The review includes information about the origin of the name "lupus," the first clear description of the skin lesions, the discovery of the systemic and discoid forms, and further advances which define our current view of this illness. The classical descriptions of Hippocrates, Paracelsus, Manardi, Rudolph Virchow, Cazenave, Robert Willan, and Moritz Kaposi are chronologically described. Later, the contributions of Sir William Osler, Jonathan Hutchinson, Sequira and Balean, Kraus and Bohac, Libman and Sacks, Malcolm Hargraves, and Edmund L. Dubois are highlighted. The major breakthroughs of the modern period, including the diagnostic tests, animal models, and genetics, are briefly described. The article ends with the history of drug-induced lupus, diagnostic criteria, and the history of the therapy of lupus erythematosus. With modern therapeutic advances, the mortality rate from lupus erythematosus has decreased substantially. It is hoped that current research will further improve the prognosis of this disease in the near future.}, }
@article {pmid17898100, year = {2007}, author = {Neumann, HP and Vortmeyer, A and Schmidt, D and Werner, M and Erlic, Z and Cascon, A and Bausch, B and Januszewicz, A and Eng, C}, title = {Evidence of MEN-2 in the original description of classic pheochromocytoma.}, journal = {The New England journal of medicine}, volume = {357}, number = {13}, pages = {1311-1315}, doi = {10.1056/NEJMoa071407}, pmid = {17898100}, issn = {1533-4406}, support = {R01HD39058-01/HD/NICHD NIH HHS/United States ; R01HD39058-01S1/HD/NICHD NIH HHS/United States ; }, mesh = {Adrenal Gland Neoplasms/genetics/*history ; Carcinoma, Medullary/genetics ; DNA Mutational Analysis ; Female ; *Germ-Line Mutation ; History, 19th Century ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a/*genetics/history ; Pedigree ; Pheochromocytoma/genetics/*history ; Thyroid Neoplasms/genetics ; }, abstract = {The first description of pheochromocytoma in 1886 has been attributed to Felix Fränkel, who described an 18-year-old woman with bilateral adrenal "sarcoma and angio-sarcoma." We reviewed the publication and then approached and assessed relatives of the patient to update the findings with the use of current technology. In-depth review revealed that the histopathological findings were consistent with pheochromocytoma. Because the proband was young and had bilateral disease at diagnosis, we hypothesized that she had an inherited condition. The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma.}, }
@article {pmid17891706, year = {2007}, author = {Giraldez, F and Fritzsch, B}, title = {The molecular biology of ear development - "Twenty years are nothing".}, journal = {The International journal of developmental biology}, volume = {51}, number = {6-7}, pages = {429-438}, pmid = {17891706}, issn = {0214-6282}, support = {R01 DC005590/DC/NIDCD NIH HHS/United States ; R01 DC005590-06/DC/NIDCD NIH HHS/United States ; LB692//PHS HHS/United States ; }, mesh = {Animals ; Body Patterning ; Ear/*embryology ; Embryo, Mammalian/anatomy &amp; histology/physiology ; History, 20th Century ; History, 21st Century ; Humans ; Models, Biological ; Molecular Biology/*history/*methods ; Morphogenesis ; }, abstract = {Views of classical biological problems changed dramatically with the rise of molecular biology as a common framework. It was indeed the new language of life sciences. Molecular biology increasingly moved us towards a unified view of developmental genetics as ideas and techniques were imported to vertebrates from other biological systems where genetics was in a more advanced state. The ultimate advance has been the ability to actually perform genetic manipulations in vertebrate organisms that were almost unthinkable before. During the last two decades these technical advances entered into and affected the research on ear development. These events are still very recent and have been with us for no longer than two decades, which is the reason for the title of this article. This new scenario forms the basis of the current and productive work of many laboratories, and this is what this Special Issue of The International Journal of Developmental Biology wants to show, presenting a snapshot of insights at the beginning of the 21st Century. In this article, we give an overview of the topics that are addressed in this Ear Development Special Issue, and also we take the opportunity to informally dig into the genealogy of some of those topics, trying to link the current work with some classical work of the past.}, }
@article {pmid17766847, year = {2007}, author = {Pickersgill, B}, title = {Domestication of plants in the Americas: insights from Mendelian and molecular genetics.}, journal = {Annals of botany}, volume = {100}, number = {5}, pages = {925-940}, pmid = {17766847}, issn = {1095-8290}, mesh = {Agriculture/*history/trends ; Americas ; Crops, Agricultural/genetics/*history/physiology ; History, Ancient ; Humans ; Molecular Biology ; }, abstract = {BACKGROUND: Plant domestication occurred independently in four different regions of the Americas. In general, different species were domesticated in each area, though a few species were domesticated independently in more than one area. The changes resulting from human selection conform to the familiar domestication syndrome, though different traits making up this syndrome, for example loss of dispersal, are achieved by different routes in crops belonging to different families.<br><br>Understanding of the genetic control of elements of the domestication syndrome is improving as a result of the development of saturated linkage maps for major crops, identification and mapping of quantitative trait loci, cloning and sequencing of genes or parts of genes, and discoveries of widespread orthologies in genes and linkage groups within and between families. As the modes of action of the genes involved in domestication and the metabolic pathways leading to particular phenotypes become better understood, it should be possible to determine whether similar phenotypes have similar underlying genetic controls, or whether human selection in genetically related but independently domesticated taxa has fixed different mutants with similar phenotypic effects.<br><br>CONCLUSIONS: Such studies will permit more critical analysis of possible examples of multiple domestications and of the origin(s) and spread of distinctive variants within crops. They also offer the possibility of improving existing crops, not only major food staples but also minor crops that are potential export crops for developing countries or alternative crops for marginal areas.}, }
@article {pmid17722842, year = {2007}, author = {Brdicka, R}, title = {[Homage to McKusick's "Mendelian inheritance in man"].}, journal = {Casopis lekaru ceskych}, volume = {146}, number = {7}, pages = {571-572}, pmid = {17722842}, issn = {0008-7335}, mesh = {Databases, Genetic/*history ; Genetics, Medical/*history ; Heredity ; History, 20th Century ; }, abstract = {McKusick's database MIM has grown since its early beginning in sixties to 1985 when the online version (OMIM) appeared. The last edition of three volumes was printed in 1998. It has become a very valuable tool for all geneticists, and also clinicians of other disciplines started using it as a source of important information. The original limitation to disorders with mendelian inheritance has been step by step broken down, all components of human genome and also genes without known function and their epigenetic changes have been included. It was a pleasure for all of us to congratulate to McKusick's honorary degree obtained this year by the oldest European university in Bologna (with a short biography).}, }
@article {pmid17668492, year = {2007}, author = {Niléhn, B}, title = {Studies on Yersinia enterocolitica with special reference to bacterial diagnosis and occurrence in human acute enteric disease. 1969.}, journal = {APMIS : acta pathologica, microbiologica, et immunologica Scandinavica}, volume = {115}, number = {5}, pages = {578-88; discussion 589-91}, doi = {10.1111/j.1600-0463.2007.apm_725.x}, pmid = {17668492}, issn = {0903-4641}, mesh = {Antibodies, Bacterial/history/immunology ; Enterocolitis/*history/*microbiology ; History, 20th Century ; Humans ; O Antigens/history/immunology ; Yersinia Infections/genetics/*history/immunology ; Yersinia enterocolitica/immunology ; }, }
@article {pmid17644791, year = {2007}, author = {Delanghe, JR and Langlois, MR and De Buyzere, ML and Torck, MA}, title = {Vitamin C deficiency and scurvy are not only a dietary problem but are codetermined by the haptoglobin polymorphism.}, journal = {Clinical chemistry}, volume = {53}, number = {8}, pages = {1397-1400}, doi = {10.1373/clinchem.2007.088658}, pmid = {17644791}, issn = {0009-9147}, mesh = {American Indian or Alaska Native ; Ascorbic Acid/*administration &amp; dosage ; Ascorbic Acid Deficiency/*genetics ; Asian People ; *Diet ; Gene Frequency ; Genetic Predisposition to Disease ; Haptoglobins/*genetics ; History, 16th Century ; History, 17th Century ; History, 19th Century ; History, Medieval ; Humans ; Polymorphism, Genetic ; Scurvy/epidemiology/*genetics/history ; White People ; }, abstract = {Ascorbic acid (vitamin C) is prone to oxidation in vivo. The human plasma protein haptoglobin (Hp) shows a genetic polymorphism with 3 major phenotypes (Hp 1-1, Hp 2-1, and Hp 2-2) that show important functional differences. Despite an adequate nutritional supply, in Hp 2-2 individuals (most common among Asian populations) vitamin C is markedly lower in concentration and particularly prone to oxidation in vivo. Therefore, susceptibility to subclinical and clinical vitamin C deficiency (scurvy) is partly genetically determined. The genetic advantage of the Hp1 allele as a vitamin C stabilizing factor helps to elucidate the direction and successes of long-distance sea crossing human migrations in history. Clinical trials demonstrated Hp phenotype-related effects of antioxidant treatment. Because vitamin C is a first line antioxidant, Hp polymorphism and its effects on vitamin C have major clinical consequences; a marked difference in genetic susceptibility toward atherosclerosis between Hp phenotypes is attributable to variation in LDL oxidation. The classical view of vitamin C and scurvy being a pure nutritional condition needs to be updated. These findings should foster research investigating the role of Hp polymorphism in human disease, and in vitamin C deficiency and atherosclerosis in particular.}, }
@article {pmid17637735, year = {2007}, author = {Beckmann, JS and Estivill, X and Antonarakis, SE}, title = {Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.}, journal = {Nature reviews. Genetics}, volume = {8}, number = {8}, pages = {639-646}, doi = {10.1038/nrg2149}, pmid = {17637735}, issn = {1471-0056}, mesh = {Female ; *Gene Dosage ; Genes, Dominant ; Genetic Diseases, Inborn/genetics ; *Genetic Variation ; *Genome, Human ; Genomics/history ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Penetrance ; Phenotype ; Polymorphism, Single Nucleotide ; Trisomy ; }, abstract = {A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of inter-individual genetic variation that could explain variable penetrance of inherited (Mendelian and polygenic) diseases and variation in the phenotypic expression of aneuploidies and sporadic traits, and might represent a major factor in the aetiology of complex, multifactorial traits. For these reasons, an effort should be made to discover all common and rare copy number variants (CNVs) in the human population. This will also enable systematic exploration of both SNPs and CNVs in association studies to identify the genomic contributors to the common disorders and complex traits.}, }
@article {pmid17604073, year = {2007}, author = {Cronin-Golomb, A and Panizzon, MS and Lyons, MJ and Franz, CE and Grant, MD and Jacobson, KC and Eisen, SA and Laudate, TM and Kremen, WS}, title = {Genetic influence on contrast sensitivity in middle-aged male twins.}, journal = {Vision research}, volume = {47}, number = {16}, pages = {2179-2186}, pmid = {17604073}, issn = {0042-6989}, support = {R01 AG022982/AG/NIA NIH HHS/United States ; R01 AG018386/AG/NIA NIH HHS/United States ; R01 AG022982-04/AG/NIA NIH HHS/United States ; R01 AG018384-05/AG/NIA NIH HHS/United States ; R01 AG018384/AG/NIA NIH HHS/United States ; R01 AG022381-06/AG/NIA NIH HHS/United States ; R01 AG018386-05/AG/NIA NIH HHS/United States ; R01 AG022381/AG/NIA NIH HHS/United States ; }, mesh = {Aging/*physiology ; Contrast Sensitivity/*genetics ; Environment ; Health Surveys ; Humans ; Likelihood Functions ; Male ; Middle Aged ; Neuropsychological Tests ; Registries ; *Twins, Monozygotic ; Vietnam Conflict ; Visual Acuity ; }, abstract = {Contrast sensitivity is strongly associated with daily functioning among older adults, but the genetic and environmental contributions to this ability are unknown. Using the classical twin method, we addressed this issue by examining contrast sensitivity at five spatial frequencies (1.5-18 cycles per degree) in 718 middle-aged male twins from the Vietnam Era Twin Study of Aging (VETSA). Heritability estimates were modest (14-38%), whereas individual-specific environmental influences accounted for 62-86% of the variance. Identifying the types of individual-specific events that impact contrast sensitivity may suggest interventions to modulate this ability and thereby improve overall quality of life as adults age.}, }
@article {pmid17592820, year = {2007}, author = {Frías L, D}, title = {The history of the Mendelian gene.}, journal = {Rivista di biologia}, volume = {100}, number = {1}, pages = {69-92}, pmid = {17592820}, issn = {0035-6050}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; History, Ancient ; Mutation ; }, abstract = {The concept of heredity arose when the ancient philosophers and scientists felt the need to explain the variation and organic evolution phenomena. The ideas about inheritance developed before Mendel were significant in the construction of the Mendelian concept of gene. From Mendelian hereditary principles to molecular genetics there have been many different concepts and also many definitions of gene. In the first corpuscular concept of gene, mutation was quite crucial to explain the different alternative genotype and phenotype expression in the progeny. From the rediscovery of Mendelian Principles to 1961, Morgan's idea that a gene is not divisible by recombination prevailed. Nevertheless it was later demonstrated that there are different units of recombination and mutation within the gene, and in a determinate gene different "functional units" can exist. In 1977, surprisingly, Sharp and Roberts found out that genes are fragmented into "exons" and "introns". At present time, with the discovery of iRNA, non coding RNA, importance of introns, transposable elements, pseudogenes, endogenous viral DNA, repeated DNA, superposed genes, non-transcriptional genes and epigenesis, ancient questions return: what is a gene? where is the program? what is the true role of mutations in the organic evolution?}, }
@article {pmid17526158, year = {2006}, author = {Taubenberger, JK}, title = {The origin and virulence of the 1918 "Spanish" influenza virus.}, journal = {Proceedings of the American Philosophical Society}, volume = {150}, number = {1}, pages = {86-112}, pmid = {17526158}, issn = {0003-049X}, support = {Z01 AI000995-01//Intramural NIH HHS/United States ; }, mesh = {Disease Outbreaks/*history ; History, 20th Century ; Humans ; Influenza A Virus, H1N1 Subtype/classification/genetics/*pathogenicity ; Influenza A virus/classification/*genetics/pathogenicity ; Influenza, Human/epidemiology/*history/virology ; United States/epidemiology ; }, abstract = {The "Spanish" influenza pandemic of 1918-19 caused acute illness in 25-30 percent of the world's population and resulted in the death of up to an estimated 40 million people. Using fixed and frozen lung tissue of 1918 influenza victims, the complete genomic sequence of the 1918 influenza virus has been deduced. Sequence and phylogenetic analysis of the completed 1918 influenza virus genes shows them to be the most avian-like among the mammalian-adapted viruses. This finding supports the hypotheses that (1) the pandemic virus contains genes derived from avian-like influenza virus strains and that (2) the 1918 virus is the common ancestor of human and classical swine H1N1 influenza viruses. The relationship of the 1918 virus with avian influenza viruses is further supported by recent work in which the 1918 hemagglutinin (HA) protein crystal structure was resolved. Neither the 1918 hemagglutinin (HA) nor the neuraminidase (NA) genes possess mutations known to increase tissue tropicity that account for the virulence of other influenza virus strains like A/WSN/33 or the highly pathogenic avian influenza H5 or H7 viruses. Using reverse genetics approaches, influenza virus constructs containing the 1918 HA and NA on a modern human influenza virus background were lethal in mice. The complete 1918 virus was even more virulent in mice. The genotypic basis of this virulence has not yet been elucidated. The complete sequence of the non-structural (NS) gene segment of the 1918 virus was deduced and also tested for the hypothesis that enhanced virulence in 1918 could have been due to type I interferon inhibition by the NS1 protein. Results from these experiments suggest that in human cells the 1918 NS1 is a very effective interferon antagonist, but the 1918 NS1 gene does not have the amino acid change that correlates with virulence in the H5N1 virus strains identified in 1997 in Hong Kong. Sequence analysis of the 1918 pandemic influenza virus is allowing us to test hypotheses as to the origin and virulence of this strain. This information should help elucidate how pandemic influenza virus strains emerge and what genetic features contribute to virulence in humans.}, }
@article {pmid17513710, year = {2007}, author = {Steimle, V and Otten, LA and Zufferey, M and Mach, B}, title = {Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 1993.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {178}, number = {11}, pages = {6677-6688}, pmid = {17513710}, issn = {0022-1767}, mesh = {Amino Acid Sequence ; Base Sequence ; Cell Line, Tumor ; Cloning, Molecular ; *Genes, MHC Class II ; Genetic Complementation Test ; HLA-D Antigens/biosynthesis/*genetics ; History, 20th Century ; Humans ; Molecular Sequence Data ; *Mutagenesis, Insertional ; Nuclear Proteins/biosynthesis/*deficiency/*genetics ; RNA Splicing ; Severe Combined Immunodeficiency/*genetics/*immunology ; Trans-Activators/biosynthesis/*deficiency/*genetics ; }, }
@article {pmid17504434, year = {2007}, author = {Jonasson, J and Olofsson, M and Monstein, HJ}, title = {Classification, identification and subtyping of bacteria based on pyrosequencing and signature matching of 16s rDNA fragments. 2002.}, journal = {APMIS : acta pathologica, microbiologica, et immunologica Scandinavica}, volume = {115}, number = {5}, pages = {668-77; discussion 678-9}, doi = {10.1111/j.1600-0463.2007.apm_692a.x}, pmid = {17504434}, issn = {0903-4641}, mesh = {Bacteria/*classification/*genetics ; Base Sequence ; History, 21st Century ; Molecular Sequence Data ; Polymerase Chain Reaction ; RNA, Ribosomal, 16S/*genetics ; Sequence Analysis, DNA/*history/instrumentation/*methods ; }, }
@article {pmid17504430, year = {2007}, author = {Tjernberg, I and Ursing, J}, title = {Clinical studies of acinetobacter classified By DNA-DNA hybridization. 1989.}, journal = {APMIS : acta pathologica, microbiologica, et immunologica Scandinavica}, volume = {115}, number = {5}, pages = {646-56; discussion 657-8}, doi = {10.1111/j.1600-0463.2007.apm_687a.x}, pmid = {17504430}, issn = {0903-4641}, mesh = {Acinetobacter/*classification/genetics ; DNA, Bacterial/*analysis ; History, 20th Century ; Humans ; In Situ Hybridization/*history/*methods ; Phylogeny ; }, }
@article {pmid17504428, year = {2007}, author = {Sandström, E and Danielsson, D}, title = {Serology Of Neisseria gonorrhoeae classification by Co-agglutination. 1980.}, journal = {APMIS : acta pathologica, microbiologica, et immunologica Scandinavica}, volume = {115}, number = {5}, pages = {632-43; discussion 644-5}, doi = {10.1111/j.1600-0463.2007.apm_691a.x}, pmid = {17504428}, issn = {0903-4641}, mesh = {Agglutination Tests/*history ; Antigens, Bacterial/genetics/history/immunology ; History, 20th Century ; Humans ; Microbiological Techniques/*history ; Neisseria gonorrhoeae/*classification/genetics ; }, }
@article {pmid17504412, year = {2007}, author = {Morten, H and Lundevall, J}, title = {A new type in the gm system.}, journal = {APMIS : acta pathologica, microbiologica, et immunologica Scandinavica}, volume = {115}, number = {5}, pages = {542-55; discussion 556-7}, doi = {10.1111/j.1600-0463.2007.apm_717a.x}, pmid = {17504412}, issn = {0903-4641}, mesh = {Alleles ; Blood Group Antigens/*genetics/*history/immunology ; Blood Grouping and Crossmatching/*history/methods ; Genotype ; History, 20th Century ; Humans ; Immunoglobulin Gm Allotypes/*genetics/*history/immunology ; Phenotype ; Polymorphism, Genetic ; Rh-Hr Blood-Group System/genetics/history/immunology ; }, }
@article {pmid17504406, year = {2007}, author = {Grubb, R and Laurel, AB}, title = {Hereditary serological human serum groups.}, journal = {APMIS : acta pathologica, microbiologica, et immunologica Scandinavica}, volume = {115}, number = {5}, pages = {499-507; discussion 508-9}, doi = {10.1111/j.1600-0463.2007.apm_738a.x}, pmid = {17504406}, issn = {0903-4641}, mesh = {Arthritis, Rheumatoid/*blood ; Blood Grouping and Crossmatching/*history ; Globins/genetics/immunology ; History, 20th Century ; Humans ; Polymorphism, Genetic ; Rh-Hr Blood-Group System/*genetics/*history ; }, }
@article {pmid17442920, year = {2007}, author = {Auron, PE and Webb, AC and Rosenwasser, LJ and Mucci, SF and Rich, A and Wolff, SM and Dinarello, CA}, title = {Nucleotide sequence of human monocyte interleukin 1 precursor cDNA. Proc. Natl. Acad. Sci. USA 1984. 81: 7907-7911.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {178}, number = {9}, pages = {5413-5417}, pmid = {17442920}, issn = {0022-1767}, mesh = {Allergy and Immunology/*history ; Base Sequence ; Cloning, Molecular ; DNA, Complementary/chemistry ; History, 20th Century ; Humans ; Interleukin-1/genetics/*history ; Monocytes/immunology ; Protein Precursors/genetics/*history ; }, }
@article {pmid19164916, year = {2007}, author = {Saupe, SJ}, title = {A short history of small s: a prion of the fungus Podospora anserina.}, journal = {Prion}, volume = {1}, number = {2}, pages = {110-115}, pmid = {19164916}, issn = {1933-690X}, mesh = {Fungal Proteins/*genetics/history/*metabolism ; History, 20th Century ; History, 21st Century ; *Models, Molecular ; *Podospora ; Prions/*genetics/history/*metabolism ; }, abstract = {Prions are infectious proteins. In fungi, prions correspond to non-Mendelian genetic elements whose mode of inheritance has long eluded explanation. The [Het-s] cytoplasmic genetic element of the filamentous fungus Podospora anserina, was originally identified in 1952 and recognized as a prion nearly half a century later. The present chapter will attempt to describe the work on [Het-s] from a historical perspective. The initial characterization and early genetic and physiological studies of [Het-s] are described together with the isolation of the [Het-s] encoding gene. More recent work that led to the construction of a structural model for this prion is also discussed.}, }
@article {pmid17379733, year = {2007}, author = {Taylor, GM and Murphy, E and Hopkins, R and Rutland, P and Chistov, Y}, title = {First report of Mycobacterium bovis DNA in human remains from the Iron Age.}, journal = {Microbiology (Reading, England)}, volume = {153}, number = {Pt 4}, pages = {1243-1249}, doi = {10.1099/mic.0.2006/002154-0}, pmid = {17379733}, issn = {1350-0872}, mesh = {Animals ; Cattle ; DNA, Bacterial/history/*isolation &amp; purification ; Female ; History, Ancient ; Humans ; Male ; Mycobacterium bovis/*genetics/isolation &amp; purification ; Polymerase Chain Reaction ; Siberia ; Spine/*microbiology/pathology ; Tuberculosis, Spinal/*history/microbiology/pathology ; }, abstract = {Tuberculosis has plagued humankind since prehistoric times, as is evident from characteristic lesions on human skeletons dating back to the Neolithic period. The disease in man is due predominantly to infection with either Mycobacterium tuberculosis or Mycobacterium bovis, both members of the M. tuberculosis (MTB) complex. A number of studies have shown that when conditions permit, surviving mycobacterial DNA may be amplified from bone by PCR. Such ancient DNA (aDNA) analyses are subject to stringent tests of authenticity and, when feasible, are invariably limited by DNA fragmentation. Using PCRs based on single-nucleotide polymorphic loci and regions of difference (RDs) in the MTB complex, a study was made of five Iron Age individuals with spinal lesions recovered from the cemetery of Aymyrlyg, South Siberia. A sensitive screening PCR for MTB complex mycobacteria was positive in four out of the five cases. Genotyping evidence indicated that all four cases were due to infection with M. bovis rather than M. tuberculosis and the data were consistent with the proposed phylogenetic model of the MTB complex. This is believed to be the first report of M. bovis causing Pott's disease in archaeological human remains. The study shows that genotyping of ancestral strains of MTB complex mycobacteria from contexts of known date provides information which allows the phylogeny of the model to be tested. Moreover, it shows that loss of DNA from RD4, which defines classic M. bovis, had already occurred from the genome over 2000 years before the present.}, }
@article {pmid17360422, year = {2007}, author = {Burger, J and Kirchner, M and Bramanti, B and Haak, W and Thomas, MG}, title = {Absence of the lactase-persistence-associated allele in early Neolithic Europeans.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {104}, number = {10}, pages = {3736-3741}, pmid = {17360422}, issn = {0027-8424}, mesh = {*Alleles ; Bone and Bones/metabolism ; DNA, Mitochondrial/genetics ; Emigration and Immigration ; Europe ; Genetics, Population ; History, Ancient ; Humans ; Lactase/*genetics ; Lactose/metabolism ; Lactose Intolerance/*genetics ; Polymorphism, Single Nucleotide ; Tandem Repeat Sequences ; Tooth/metabolism ; White People/*genetics/history ; }, abstract = {Lactase persistence (LP), the dominant Mendelian trait conferring the ability to digest the milk sugar lactose in adults, has risen to high frequency in central and northern Europeans in the last 20,000 years. This trait is likely to have conferred a selective advantage in individuals who consume appreciable amounts of unfermented milk. Some have argued for the "culture-historical hypothesis," whereby LP alleles were rare until the advent of dairying early in the Neolithic but then rose rapidly in frequency under natural selection. Others favor the "reverse cause hypothesis," whereby dairying was adopted in populations with preadaptive high LP allele frequencies. Analysis based on the conservation of lactase gene haplotypes indicates a recent origin and high selection coefficients for LP, although it has not been possible to say whether early Neolithic European populations were lactase persistent at appreciable frequencies. We developed a stepwise strategy for obtaining reliable nuclear ancient DNA from ancient skeletons, based on (i) the selection of skeletons from archaeological sites that showed excellent biomolecular preservation, (ii) obtaining highly reproducible human mitochondrial DNA sequences, and (iii) reliable short tandem repeat (STR) genotypes from the same specimens. By applying this experimental strategy, we have obtained high-confidence LP-associated genotypes from eight Neolithic and one Mesolithic human remains, using a range of strict criteria for ancient DNA work. We did not observe the allele most commonly associated with LP in Europeans, thus providing evidence for the culture-historical hypothesis, and indicating that LP was rare in early European farmers.}, }
@article {pmid17357067, year = {2007}, author = {McKusick, VA}, title = {Mendelian Inheritance in Man and its online version, OMIM.}, journal = {American journal of human genetics}, volume = {80}, number = {4}, pages = {588-604}, pmid = {17357067}, issn = {0002-9297}, mesh = {Databases, Genetic/*history/*statistics &amp; numerical data/trends ; *Epigenesis, Genetic ; *Genetic Predisposition to Disease ; *Genetic Variation ; History, 20th Century ; History, 21st Century ; Internet ; *Phenotype ; Terminology as Topic ; }, }
@article {pmid17304715, year = {2002}, author = {Pinar, S}, title = {[The watershed histology of Jose Fernandez Nonidez and the introduction of Mendelian chromosome theory in Spain].}, journal = {Asclepio; archivo iberoamericano de historia de la medicina y antropologia medica}, volume = {54}, number = {2}, pages = {3-18}, doi = {10.3989/asclepio.2002.v54.i2.138}, pmid = {17304715}, issn = {0210-4466}, mesh = {*Aortic Bodies ; *Chromosomes ; *Genetics/history ; *Histology/history ; History, 20th Century ; *Research/history ; *Silver Staining/history ; Spain ; *Thyroid Gland ; United States ; }, }
@article {pmid17301019, year = {2007}, author = {Pellecchia, M and Negrini, R and Colli, L and Patrini, M and Milanesi, E and Achilli, A and Bertorelle, G and Cavalli-Sforza, LL and Piazza, A and Torroni, A and Ajmone-Marsan, P}, title = {The mystery of Etruscan origins: novel clues from Bos taurus mitochondrial DNA.}, journal = {Proceedings. Biological sciences}, volume = {274}, number = {1614}, pages = {1175-1179}, pmid = {17301019}, issn = {0962-8452}, mesh = {Animals ; Base Sequence ; Cattle/*genetics ; DNA, Mitochondrial/genetics ; Emigration and Immigration/*history ; Ethnicity/*genetics ; *Genetic Variation ; Haplotypes/genetics ; History, Ancient ; Humans ; Italy ; Molecular Sequence Data ; Population Dynamics ; Sequence Analysis, DNA ; }, abstract = {The Etruscan culture developed in Central Italy (Etruria) in the first millennium BC and for centuries dominated part of the Italian Peninsula, including Rome. The history of the Etruscans is at the roots of Mediterranean culture and civilization, but their origin is still debated: local or Eastern provenance? To shed light on this mystery, bovine and human mitochondrial DNAs (mtDNAs) have been investigated, based on the well-recognized strict legacy which links human and livestock populations. In the region corresponding to ancient Etruria (Tuscany, Central Italy), several Bos taurus breeds have been reared since historical times. These breeds have a strikingly high level of mtDNA variation, which is found neither in the rest of Italy nor in Europe. The Tuscan bovines are genetically closer to Near Eastern than to European gene pools and this Eastern genetic signature is paralleled in modern human populations from Tuscany, which are genetically close to Anatolian and Middle Eastern ones. The evidence collected corroborates the hypothesis of a common past migration: both humans and cattle reached Etruria from the Eastern Mediterranean area by sea. Hence, the Eastern origin of Etruscans, first claimed by the classic historians Herodotus and Thucydides, receives strong independent support. As the Latin philosopher Seneca wrote: Asia Etruscos sibi vindicat (Asia claims the Etruscans back).}, }
@article {pmid17293565, year = {2007}, author = {Birchler, JA and Veitia, RA}, title = {The gene balance hypothesis: from classical genetics to modern genomics.}, journal = {The Plant cell}, volume = {19}, number = {2}, pages = {395-402}, pmid = {17293565}, issn = {1040-4651}, support = {R01 GM068042/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Biological Evolution ; Chromosomes ; *Gene Expression Regulation ; *Genetics/history ; *Genomics ; History, 20th Century ; Plants/*genetics ; *Ploidies ; }, }
@article {pmid17287725, year = {2007}, author = {Linz, B and Balloux, F and Moodley, Y and Manica, A and Liu, H and Roumagnac, P and Falush, D and Stamer, C and Prugnolle, F and van der Merwe, SW and Yamaoka, Y and Graham, DY and Perez-Trallero, E and Wadstrom, T and Suerbaum, S and Achtman, M}, title = {An African origin for the intimate association between humans and Helicobacter pylori.}, journal = {Nature}, volume = {445}, number = {7130}, pages = {915-918}, pmid = {17287725}, issn = {1476-4687}, support = {/WT_/Wellcome Trust/United Kingdom ; 069662/WT_/Wellcome Trust/United Kingdom ; BB/C007123/1/BB_/Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Africa/epidemiology ; Asia ; *Emigration and Immigration ; Europe ; Genetic Variation ; Geography ; Helicobacter Infections/epidemiology/*microbiology ; Helicobacter pylori/*genetics/*physiology ; History, Ancient ; Humans ; Molecular Epidemiology ; Molecular Sequence Data ; *Phylogeny ; }, abstract = {Infection of the stomach by Helicobacter pylori is ubiquitous among humans. However, although H. pylori strains from different geographic areas are associated with clear phylogeographic differentiation, the age of an association between these bacteria with humans remains highly controversial. Here we show, using sequences from a large data set of bacterial strains that, as in humans, genetic diversity in H. pylori decreases with geographic distance from east Africa, the cradle of modern humans. We also observe similar clines of genetic isolation by distance (IBD) for both H. pylori and its human host at a worldwide scale. Like humans, simulations indicate that H. pylori seems to have spread from east Africa around 58,000 yr ago. Even at more restricted geographic scales, where IBD tends to become blurred, principal component clines in H. pylori from Europe strongly resemble the classical clines for Europeans described by Cavalli-Sforza and colleagues. Taken together, our results establish that anatomically modern humans were already infected by H. pylori before their migrations from Africa and demonstrate that H. pylori has remained intimately associated with their human host populations ever since.}, }
@article {pmid17284096, year = {2007}, author = {Mann, MW and Pons, G}, title = {Various pharmacogenetic aspects of antiepileptic drug therapy: a review.}, journal = {CNS drugs}, volume = {21}, number = {2}, pages = {143-164}, pmid = {17284096}, issn = {1172-7047}, mesh = {Animals ; Anticonvulsants/classification/history/*therapeutic use ; Epilepsy/*drug therapy/*genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; *Pharmacogenetics ; Polymorphism, Genetic ; }, abstract = {Pharmacogenetics concerns the influence of an individual's genetic background on the pharmacokinetics and pharmacodynamics of xenobiotics. Much of the pharmacogenetic data in the field of epilepsy deals with the pharmacokinetics of antiepileptic drugs (AEDs). In particular, two polymorphisms of cytochrome P450 2C9 are known to slow down the metabolism of phenytoin to a degree that increases the risk of the neurotoxic adverse effects of this drug among carriers of these polymorphisms. A significant number of patients with epilepsy do not respond to AEDs and such pharmacoresistance is a major, largely unsolved, problem that is likely to be multifactorial in nature. In this regard, genetic factors may influence transmembrane drug transporter proteins, thereby modifying the intracerebral penetration of AEDs. Monogenic idiopathic epilepsies are rare and frequently associated with ion channel mutations; however, to date, a consistent relationship between changes in channel properties and clinical phenotype has not been established nor has any association between genotype and response to specific treatment options. Polymorphisms of drug targets may represent another genetic facet in epilepsy: a recent study demonstrated for the first time a polymorphism of a drug target (the alpha-subunit of a voltage-gated sodium channel) associated in clinical practice with differing response to two classic AEDs. Adverse drug reactions and teratogenicity of AEDs remain a major concern. Whole-genome single nucleotide polymorphism profiling might in the future help to determine genetic predisposing factors for adverse drug reactions. Recently, in Han Chinese treated with carbamazepine and presenting with Stevens-Johnson syndrome, a strong association was found with HLA B*1502. If genetically targeted drug development becomes more affordable/cost efficient in the near future, the development of new drugs for relatively rare diseases could become economically viable for the pharmaceutical industry. The synergy of lower trial costs and efficacy-based prescribing may reduce the cost of medical treatment for a particular disease. This hypothetical advantage of the practical use of pharmacogenetics is, however, counterbalanced by several possible dangers, including illicit data mining and the development of a human 'genetic underclass' with the risk of exclusion from, for example employment or health insurance, because of an 'unfavourable' genetic profile.}, }
@article {pmid17267046, year = {2007}, author = {Swanson, LW}, title = {Quest for the basic plan of nervous system circuitry.}, journal = {Brain research reviews}, volume = {55}, number = {2}, pages = {356-372}, pmid = {17267046}, issn = {0165-0173}, support = {NS 050792/NS/NINDS NIH HHS/United States ; R37 NS016686-29/NS/NINDS NIH HHS/United States ; R37 NS016686-28/NS/NINDS NIH HHS/United States ; R01 NS050792/NS/NINDS NIH HHS/United States ; R56 NS050792/NS/NINDS NIH HHS/United States ; R01 NS050792-04/NS/NINDS NIH HHS/United States ; R01 NS050792-02/NS/NINDS NIH HHS/United States ; R37 NS016686/NS/NINDS NIH HHS/United States ; R01 NS050792-01/NS/NINDS NIH HHS/United States ; R01 NS016686/NS/NINDS NIH HHS/United States ; R01 NS050792-03/NS/NINDS NIH HHS/United States ; NS 16686/NS/NINDS NIH HHS/United States ; }, mesh = {Animals ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; *Models, Neurological ; Nerve Net/anatomy &amp; histology/*physiology ; Nervous System/*cytology ; *Nervous System Physiological Phenomena ; Neurons/classification/physiology/ultrastructure ; Neurosciences/history ; Silver Staining/methods ; }, abstract = {The basic plan of nervous system organization has been investigated since classical antiquity. The first model centered on pneumas pumped from sensory nerves through the ventricular system and out motor nerves to muscles. It was popular well into the 17th century and diverted attention from the organization of brain parenchyma itself. Willis focused on gray matter production and white matter conduction of pneumas in 1664, and by the late 19th century a clear cellular model of nervous system organization based on sensory, motor, and association neuron classes transmitting nerve impulses was elaborated by Cajal and his contemporaries. Today, revolutionary advances in experimental pathway tracing methods, molecular genetics, and computer science inspire systems neuroscience. Seven minimal requirements are outlined for knowledge management systems capable of describing, analyzing, and modeling the basic plan of nervous system circuitry in general, and the plan evolved for vertebrates, for mammals, and ultimately for humans in particular. The goal remains a relatively simple, easy to understand model analogous to the one Harvey elaborated in 1628 for blood circulation in the cardiovascular system. As Cajal wrote in 1909, "To extend our understanding of neural function to the most complex human physiological and psychological activities, it is essential that we first generate a clear and accurate view of the structure of the relevant centers, and of the human brain itself, so that the basic plan--the overview--can be grasped in the blink of an eye."}, }
@article {pmid17254992, year = {2007}, author = {González-José, R and Martínez-Abadías, N and González-Martín, A and Bautista-Martínez, J and Gómez-Valdés, J and Quinto, M and Hernández, M}, title = {Detection of a population replacement at the Classic-Postclassic transition in Mexico.}, journal = {Proceedings. Biological sciences}, volume = {274}, number = {1610}, pages = {681-688}, pmid = {17254992}, issn = {0962-8452}, mesh = {Anthropometry ; Cluster Analysis ; Craniology ; *Genetics, Population ; History, 15th Century ; History, Ancient ; History, Medieval ; Humans ; Mexico ; *Phenotype ; *Population Dynamics ; Skull/*anatomy &amp; histology ; }, abstract = {The Mexica Empire reached an outstanding social, economic and politic organization among Mesoamerican civilizations. Even though archaeology and history provide substantial information about their past, their biological origin and the demographic consequences of their settlement in the Central Valley of Mexico remain unsolved. Two main hypotheses compete to explain the Mexica origin: a social reorganization of the groups already present in the Central Valley after the fall of the Classic centres or a population replacement of the Mesoamerican groups by migrants from the north and the consequent setting up of the Mexica society. Here, we show that the main changes in the facial phenotype occur during the Classic-Postclassic transition, rather than in the rise of the Mexica. Furthermore, Mexica facial morphology seems to be already present in the early phases of the Postclassic epoch and is not related to the northern facial pattern. A combination of geometric morphometrics with Relethford-Blangero analyses of within- versus among-group variation indicates that Postclassic groups are more variable than expected. This result suggests that intense gene exchange was likely after the fall of the Classic and maybe responsible for the Postclassic facial phenotype. The source population for the Postclassic groups could be located somewhere in western Mesoamerica, since North Mexico and Central Mesoamerican Preclassic and Classic groups are clearly divergent from the Postclassic ones. Similarity among Preclassic and Classic groups and those from Aridoamerica could be reflecting the ancestral phenotypic pattern characteristic of the groups that first settled Mesoamerica.}, }
@article {pmid17213034, year = {2006}, author = {Cremer, T and Cremer, C}, title = {Rise, fall and resurrection of chromosome territories: a historical perspective. Part II. Fall and resurrection of chromosome territories during the 1950s to 1980s. Part III. Chromosome territories and the functional nuclear architecture: experiments and models from the 1990s to the present.}, journal = {European journal of histochemistry : EJH}, volume = {50}, number = {4}, pages = {223-272}, pmid = {17213034}, issn = {1121-760X}, mesh = {Animals ; CHO Cells ; Cell Biology/*history ; Cell Nucleus/*physiology ; *Chromosome Structures ; Cricetinae ; Cricetulus ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; }, abstract = {Part II of this historical review on the progress of nuclear architecture studies points out why the original hypothesis of chromosome territories from Carl Rabl and Theodor Boveri (described in part I) was abandoned during the 1950s and finally proven by compelling evidence forwarded by laser-uv-microbeam studies and in situ hybridization experiments. Part II also includes a section on the development of advanced light microscopic techniques breaking the classical Abbe limit written for readers with little knowledge about the present state of the theory of light microscopic resolution. These developments have made it possible to perform 3D distance measurements between genes or other specifically stained, nuclear structures with high precision at the nanometer scale. Moreover, it has become possible to record full images from fluorescent structures and perform quantitative measurements of their shapes and volumes at a level of resolution that until recently could only be achieved by electron microscopy. In part III we review the development of experiments and models of nuclear architecture since the 1990s. Emphasis is laid on the still strongly conflicting views about the basic principles of higher order chromatin organization. A concluding section explains what needs to be done to resolve these conflicts and to come closer to the final goal of all studies of the nuclear architecture, namely to understand the implications of nuclear architecture for nuclear functions.}, }
@article {pmid17205548, year = {2007}, author = {Scherer, AK}, title = {Population structure of the Classic period Maya.}, journal = {American journal of physical anthropology}, volume = {132}, number = {3}, pages = {367-380}, doi = {10.1002/ajpa.20535}, pmid = {17205548}, issn = {0002-9483}, mesh = {Central America ; *Fossils ; *Gene Flow ; History, Ancient ; History, Medieval ; Humans ; Indians, Central American/genetics/*history ; Odontometry ; *Population Dynamics ; Tooth/*anatomy &amp; histology ; }, abstract = {This study examines the population structure of Classic period (A.D. 250-900) Maya populations through analysis of odontometric variation of 827 skeletons from 12 archaeological sites in Mexico, Guatemala, Belize, and Honduras. The hypothesis that isolation by distance characterized Classic period Maya population structure is tested using Relethford and Blangero's (Hum Biol 62 (1990) 5-25) approach to R matrix analysis for quantitative traits. These results provide important biological data for understanding ancient Maya population history, particularly the effects of the competing Tikal and Calakmul hegemonies on patterns of lowland Maya site interaction. An overall F(ST) of 0.018 is found for the Maya area, indicating little among-group variation for the Classic Maya sites tested. Principal coordinates plots derived from the R matrix analysis show little regional patterning in the data, though the geographic outliers of Kaminaljuyu and a pooled Pacific Coast sample did not cluster with the lowland Maya sites. Mantel tests comparing the biological distance matrix to a geographic distance matrix found no association between genetic and geographic distance. In the Relethford-Blangero analysis, most sites possess negative or near-zero residuals, indicating minimal extraregional gene flow. The exceptions were Barton Ramie, Kaminaljuyu, and Seibal. A scaled R matrix analysis clarifies that genetic drift is a consideration for understanding Classic Maya population structure. All results indicate that isolation by distance does not describe Classic period Maya population structure.}, }
@article {pmid17141178, year = {2007}, author = {Birnbaumer, L}, title = {The discovery of signal transduction by G proteins: a personal account and an overview of the initial findings and contributions that led to our present understanding.}, journal = {Biochimica et biophysica acta}, volume = {1768}, number = {4}, pages = {756-771}, pmid = {17141178}, issn = {0006-3002}, support = {Z01 ES101643-03/ES/NIEHS NIH HHS/United States ; Z01 ES101683-03/ES/NIEHS NIH HHS/United States ; Z01 ES101684-03/ES/NIEHS NIH HHS/United States ; //Intramural NIH HHS/United States ; }, mesh = {Adenylyl Cyclases/drug effects/history/metabolism ; Animals ; Binding Sites ; Cholera Toxin/history/metabolism ; GTP Phosphohydrolases/metabolism ; GTP-Binding Protein alpha Subunits, Gi-Go/history/metabolism ; GTP-Binding Protein alpha Subunits, Gs/history/metabolism ; Guanine Nucleotides/history/metabolism ; Heterotrimeric GTP-Binding Proteins/genetics/*history/metabolism ; History, 20th Century ; History, 21st Century ; Pertussis Toxin/history/metabolism ; }, abstract = {The realization that there existed a G-protein coupled signal transduction mechanism developed gradually and was initially the result of an ill fated quest for uncovering the mechanism of action of insulin, followed by a refocused research in many laboratories, including mine, on how GTP acted to increase hormonal stimulation of adenylyl cyclase. Independent research into how light-activated rhodopsin triggers a response in photoreceptor cells of the retina and the attendant biochemical studies joined midway and, without the left hand knowing well what the right hand was doing, preceded classical G protein research in identifying the molecular players responsible for signal transduction by G proteins.}, }
@article {pmid17133438, year = {2007}, author = {Børglum, AD and Vernesi, C and Jensen, PK and Madsen, B and Haagerup, A and Barbujani, G}, title = {No signature of Y chromosomal resemblance between possible descendants of the Cimbri in Denmark and Northern Italy.}, journal = {American journal of physical anthropology}, volume = {132}, number = {2}, pages = {278-284}, doi = {10.1002/ajpa.20509}, pmid = {17133438}, issn = {0002-9483}, mesh = {*Chromosomes, Human, Y ; Denmark ; Genealogy and Heraldry ; Genetic Markers ; Geography ; Haplotypes ; Humans ; Italy ; Male ; Microsatellite Repeats ; White People/*genetics ; }, abstract = {Two European populations are believed to be related to the ancient Germanic tribe Cimbri: one living in Northern Italy, the other living in Jutland, Denmark. The people called Cimbri are documented in the ancient Roman historical record. Arriving from the far north their movements can be tracked from successive battles with the Romans. The Cimbri finally entered Italy from the northeast and were defeated at Vercellae (present day Vercelli) in 101 BC by Gaius Marius and his professional legions. Classical sources from the first centuries AD relate the homeland of the Cimbri to the coasts around the Elb estuary (northern Germany) or specifically towards the north (Himmerland in northern Jutland). In the alpine parts of Veneto, northeast of the historical battlefield, local traditions dating back to late medieval time, identify a local population as Cimbri living in Terra dei Cimbri. They are considered the descendents of the Germanic combatants that fled the battlefield at Vercelli. As the defeated Cimbri that possibly fled to the mountains of Northern Italy most likely would have been male (warriors), the present study investigated the possible Y chromosomal diversity of the two present populations using microsatellite markers and single nucleotide polymorphisms. While Cimbri from Himmerland resembled their geographical neighbors from Denmark for the Y-chromosome markers, Cimbri from Italy were significantly differentiated both from Cimbri from Himmerland and from Danes. Therefore, we were not able to show any biological relationship for uniparentally transmitted markers.}, }
@article {pmid17072078, year = {2006}, author = {Waddington, CH}, title = {The genetic basis of the 'assimilated bithorax' stock. 1957.}, journal = {Journal of genetics}, volume = {85}, number = {2}, pages = {101-105}, doi = {10.1007/BF02729015}, pmid = {17072078}, issn = {0022-1333}, mesh = {Animals ; Drosophila melanogaster/embryology/*genetics ; Genetics/*history ; History, 20th Century ; Thorax/embryology/metabolism ; }, }
@article {pmid17018135, year = {2006}, author = {Weiss, RA}, title = {The discovery of endogenous retroviruses.}, journal = {Retrovirology}, volume = {3}, number = {}, pages = {67}, pmid = {17018135}, issn = {1742-4690}, mesh = {Animals ; *Endogenous Retroviruses/classification/genetics/isolation &amp; purification ; *Evolution, Molecular ; History, 20th Century ; Humans ; Mammals/virology ; Mice ; Phylogeny ; Proviruses/genetics ; Retroviridae/classification/*genetics ; Virology/history ; }, abstract = {When endogenous retroviruses (ERV) were discovered in the late 1960s, the Mendelian inheritance of retroviral genomes by their hosts was an entirely new concept. Indeed Howard M Temin's DNA provirus hypothesis enunciated in 1964 was not generally accepted, and reverse transcriptase was yet to be discovered. Nonetheless, the evidence that we accrued in the pre-molecular era has stood the test of time, and our hypothesis on ERV, which one reviewer described as 'impossible', proved to be correct. Here I recount some of the key observations in birds and mammals that led to the discovery of ERV, and comment on their evolution, cross-species dispersion, and what remains to be elucidated.}, }
@article {pmid16982853, year = {2006}, author = {Brenner, S and Milstein, C}, title = {Pillars Article: Origin of antibody variation. Nature 1966. 211: 242-243.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {177}, number = {7}, pages = {4237-4238}, pmid = {16982853}, issn = {0022-1767}, mesh = {Antibody Diversity/*genetics ; DNA/genetics/immunology ; DNA Repair/genetics/immunology ; DNA Repair Enzymes/genetics/immunology ; History, 20th Century ; Somatic Hypermutation, Immunoglobulin/*genetics ; }, }
@article {pmid16869882, year = {2006}, author = {Dovc, P and Kavar, T and Sölkner, H and Achmann, R}, title = {Development of the Lipizzan horse breed.}, journal = {Reproduction in domestic animals = Zuchthygiene}, volume = {41}, number = {4}, pages = {280-285}, doi = {10.1111/j.1439-0531.2006.00726.x}, pmid = {16869882}, issn = {0936-6768}, mesh = {Animals ; *Breeding/history ; Cluster Analysis ; DNA, Mitochondrial/*analysis ; Female ; Genetic Markers ; *Genetic Variation ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Horses/*genetics/physiology ; Male ; *Microsatellite Repeats ; Pedigree ; Sequence Analysis, DNA ; }, abstract = {The development and a brief history of the Lipizzan horse breed are reviewed. The contribution of several breeds, some of them already extinct, to the development of the Lipizzan horse, gives it a special status representing an important gene pool. This well-documented breed is a part of the common European natural and cultural heritage. Breeding practices establishing stallion and mare family lines as well as availability of pedigrees are described. Molecular analysis of mitochondrial DNA (mtDNA) and microsatellite data allowed us to analyse the structure of the Lipizzan population, to estimate genetic variability within the population and to test the reliability of the pedigree data. DNA sequence analysis of the mtDNA control region confirmed relative high variability of the gene pool, containing majority of mtDNA haplotypes found in horse populations worldwide. Microsatellite analysis showed that the level of heterozygosity in the Lipizzan population is comparable with the heterozygosity in other populations. The fact that majority of the Lipizzan population is bred on eight state studs in the Central and Eastern Europe contributes to the structuring of the population which results in three clusters: classical cluster, represented by studs Lipica, Piber and Monterotondo, transition cluster, represented by studs Szilvasvarad, Djakovo and Topolćianky and eastern cluster represented by studs Beclean and Fagaras. The molecular markers also allowed verification of pedigree data, and the rough estimation of pedigree errors was about 10%.}, }
@article {pmid16809834, year = {2006}, author = {Punnett, RC}, title = {Note on a sex-linked down character in ducks. 1932.}, journal = {Journal of genetics}, volume = {85}, number = {1}, pages = {3-7}, doi = {10.1007/BF02728964}, pmid = {16809834}, issn = {0022-1333}, mesh = {Animals ; Ducks/*genetics ; *Feathers ; *Genetic Linkage ; History, 20th Century ; }, }
@article {pmid16809513, year = {2006}, author = {Ammerman, AJ and Pinhasi, R and Bánffy, E}, title = {Comment on "Ancient DNA from the first European farmers in 7500-year-old Neolithic sites".}, journal = {Science (New York, N.Y.)}, volume = {312}, number = {5782}, pages = {1875; author reply 1875}, doi = {10.1126/science.1123984}, pmid = {16809513}, issn = {1095-9203}, mesh = {Agriculture/*history ; Culture ; DNA, Mitochondrial/*genetics/history ; Europe ; Female ; History, Ancient ; Humans ; Male ; Sample Size ; White People/*genetics/history ; }, abstract = {On the basis of analysis of ancient DNA from early European farmers, Haak et al. (Reports, 11 November 2005, p. 1016) argued for the Paleolithic ancestry of modern Europeans. We stress that the study is more limited in scope than the authors claim, in part because not all of the skeletal samples date to the time of the Neolithic transition in a given area of Europe.}, }
@article {pmid16796586, year = {2006}, author = {Gosal, D and Ross, OA and Toft, M}, title = {Parkinson's disease: the genetics of a heterogeneous disorder.}, journal = {European journal of neurology}, volume = {13}, number = {6}, pages = {616-627}, doi = {10.1111/j.1468-1331.2006.01336.x}, pmid = {16796586}, issn = {1351-5101}, mesh = {History, 18th Century ; History, 19th Century ; Humans ; *Mutation ; Nerve Tissue Proteins/*genetics/metabolism ; Parkinson Disease/*genetics/history ; }, abstract = {Since the first description of Parkinson's disease (PD) in 1817 attempts have been made to resolve the etiology of this common neurodegenerative disorder. In the last century the influence of heredity in PD was controversial. The identification of mutations in six genes responsible for Mendelian forms of PD; alpha-synuclein (SNCA), parkin (PRKN), ubiquitin C-terminal hydrolase L1 (UCH-L1), oncogene DJ-1, PTEN-induced putative kinase 1 (PINK1), and most recently leucine-rich repeat kinase 2 (LRRK2), has confirmed the role of genetics in familial forms of the disease. The exact relationship of these familial disorders and related genes to the more common sporadic form is currently uncertain. The identification of LRRK2 mutations and the association of common variants in SNCA and UCH-L1 in apparently sporadic late-onset disease indicate these genes may be of greater importance than previously believed. The protein products of the six genes are involved in different pathways of neurodegeneration and have opened new avenues of research. This focused research will lead to the development of novel targeted therapies, which may revolutionize the treatment of PD for a substantial proportion of patients.}, }
@article {pmid16778474, year = {2006}, author = {Fisher, C}, title = {Epithelioid sarcoma of Enzinger.}, journal = {Advances in anatomic pathology}, volume = {13}, number = {3}, pages = {114-121}, doi = {10.1097/00125480-200605000-00002}, pmid = {16778474}, issn = {1072-4109}, mesh = {Biomarkers, Tumor/metabolism ; Epithelioid Cells/pathology ; Female ; History, 20th Century ; Humans ; Male ; Sarcoma/history/metabolism/*pathology ; Soft Tissue Neoplasms/history/metabolism/*pathology ; }, abstract = {Epithelioid sarcoma was named in 1970 in a classic paper by Enzinger, who expanded the observations in a larger series in 1985. He defined a sarcoma with a peak incidence in young adult males and a predilection for extremities, involving subcutis or deeper tissue and extending along tendon sheaths or aponeuroses. The tumor forms nodules with central necrosis surrounded by bland polygonal cells with eosinophilic cytoplasm and peripheral spindling. Fibromalike, angiomatoid, and proximal aggressive variants (with larger cells, prominent nuceloi, and rhabdoid change) have since been described. Epithelioid sarcomas regularly express vimentin, cytokeratins, and epithelial membrane antigen, and about half are positive for CD34, but a wide range of other antigens can be expressed. S100 protein, desmin, and FLI-1 are usually negative. The ultrastructure displays epithelial and mesenchymal features including myofibroblastic differentiation. There are no specific genetic findings but several cases display chromosomal abnormalities in the 22q region. The tumor has no normal cellular counterpart and differs from both synovial sarcoma and carcinoma. There is a wide differential diagnosis from numerous benign and malignant conditions, including granuloma annulare, melanoma, and epithelioid vascular neoplasms. Epithelioid sarcoma has a high recurrence rate, which can be reduced by adequate surgery, and up to 40% metastasize, to regional lymph nodes, to lung, and other locations including scalp. Adverse prognostic factors include large size, male sex, older age, necrosis, vascular invasion, rhabdoid cytomorphology, and inadequate excision. Thirty-six years after Enzinger's original account, epithelioid sarcoma remains a clinically and pathologically distinct, indolent but aggressive sarcoma of indeterminate lineage.}, }
@article {pmid16773396, year = {2006}, author = {Binnewies, TT and Motro, Y and Hallin, PF and Lund, O and Dunn, D and La, T and Hampson, DJ and Bellgard, M and Wassenaar, TM and Ussery, DW}, title = {Ten years of bacterial genome sequencing: comparative-genomics-based discoveries.}, journal = {Functional &amp; integrative genomics}, volume = {6}, number = {3}, pages = {165-185}, pmid = {16773396}, issn = {1438-793X}, mesh = {Bacterial Vaccines/biosynthesis ; Computer Simulation ; Databases, Nucleic Acid/statistics &amp; numerical data ; Genetic Code ; Genetic Variation ; *Genome, Bacterial ; Genomic Islands ; Genomics/*methods ; History, 20th Century ; Intellectual Property ; Interspersed Repetitive Sequences ; Models, Genetic ; Phylogeny ; Proteome/analysis ; Sequence Analysis, DNA ; }, abstract = {It has been more than 10 years since the first bacterial genome sequence was published. Hundreds of bacterial genome sequences are now available for comparative genomics, and searching a given protein against more than a thousand genomes will soon be possible. The subject of this review will address a relatively straightforward question: "What have we learned from this vast amount of new genomic data?" Perhaps one of the most important lessons has been that genetic diversity, at the level of large-scale variation amongst even genomes of the same species, is far greater than was thought. The classical textbook view of evolution relying on the relatively slow accumulation of mutational events at the level of individual bases scattered throughout the genome has changed. One of the most obvious conclusions from examining the sequences from several hundred bacterial genomes is the enormous amount of diversity--even in different genomes from the same bacterial species. This diversity is generated by a variety of mechanisms, including mobile genetic elements and bacteriophages. An examination of the 20 Escherichia coli genomes sequenced so far dramatically illustrates this, with the genome size ranging from 4.6 to 5.5 Mbp; much of the variation appears to be of phage origin. This review also addresses mobile genetic elements, including pathogenicity islands and the structure of transposable elements. There are at least 20 different methods available to compare bacterial genomes. Metagenomics offers the chance to study genomic sequences found in ecosystems, including genomes of species that are difficult to culture. It has become clear that a genome sequence represents more than just a collection of gene sequences for an organism and that information concerning the environment and growth conditions for the organism are important for interpretation of the genomic data. The newly proposed Minimal Information about a Genome Sequence standard has been developed to obtain this information.}, }
@article {pmid16735156, year = {2006}, author = {Liu, Y}, title = {Historical and modern genetics of plant graft hybridization.}, journal = {Advances in genetics}, volume = {56}, number = {}, pages = {101-129}, doi = {10.1016/S0065-2660(06)56003-1}, pmid = {16735156}, issn = {0065-2660}, mesh = {Chimera ; Genetics/*history ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; Plant Physiological Phenomena ; Plants/*genetics ; }, abstract = {Graft hybridization is a type of asexual hybridization in which heritable changes may be induced by grafting. Darwin was the first to put forward the conception of graft hybridization. The existence of graft hybrids has been extensively documented, although there has been a refusal to accept its reality, other than perceiving the phenomenon as involving "simple" chimeras. Graft hybrids can be divided into two categories--chimera graft hybrid (so-called graft chimera) and nonchimera graft hybrid (so-called vegetative hybrid). These differ with respect to grafting methods, characteristics, and mechanisms proposed to underlie the two categories. Graft hybridization is not only a simple and powerful means of plant breeding but also provides striking evidence in favor of Darwin's notions about Pangenesis--a developmental theory of heredity, on the one hand, and a phenomenon that plays a crucial role in revealing the mystery of non-Mendelian inheritance in grafted fruit trees.}, }
@article {pmid16724013, year = {2006}, author = {Engel, E}, title = {A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.}, journal = {European journal of human genetics : EJHG}, volume = {14}, number = {11}, pages = {1158-1169}, doi = {10.1038/sj.ejhg.5201619}, pmid = {16724013}, issn = {1018-4813}, mesh = {Female ; Genes, Recessive ; Genetics, Medical/history ; Genomic Imprinting ; History, 20th Century ; History, 21st Century ; Homozygote ; Humans ; Male ; Pedigree ; *Uniparental Disomy ; }, abstract = {With uniparental disomy (UPD), the presence in a diploid genome of a chromosome pair derived from one genitor carries two main types of developmental risk: the inheritance of a recessive trait or the occurrence of an imprinting disorder. When the uniparentally derived pair carries two homozygous sequences (isodisomy) with a duplicated mutant, this 'reduction to homozygosity' determines a recessive phenotype solely inherited from one heterozygote. Thus far, some 40 examples of such recessive trait transmission have been reported in the medical literature and, among the current 32 known types of UPDs, UPD of chromosomes 1, 2, and 7 have contributed to the larger contingent of these conditions. Being at variance with the traditional mode of transmission, they constitute a group of 'Mendelian outlaws'. Several imprinted chromosome domains and loci have been, for a large part, identified through different UPDs. Thus, disomies for paternal 6, maternal 7, paternal 11, paternal and maternal 14 and 15, maternal 20 (and paternal 20q) and possibly maternal 16 cause as many syndromes, as at the biological level the loss or duplication of monoparentally expressed allele sequences constitutes 'imprinting rights infringements'. The above pitfalls represent the price to pay when, instead of a Mendelian even segregation and independent assortment of the chromosomes, the fertilized product with a nondisjunctional meiotic error undergoes correction (for unknown or fortuitous reasons) through a mitotic adjustment as a means to restore euploidy, thereby resulting in UPD. Happily enough, UPDs leading to the healthy rescue from some chromosomal mishaps also exist.}, }
@article {pmid16721391, year = {2006}, author = {Vouillamoz, JF and Grando, MS}, title = {Genealogy of wine grape cultivars: "Pinot" is related to "Syrah".}, journal = {Heredity}, volume = {97}, number = {2}, pages = {102-110}, doi = {10.1038/sj.hdy.6800842}, pmid = {16721391}, issn = {0018-067X}, mesh = {Alleles ; *Genealogy and Heraldry ; Genome, Plant ; History, 20th Century ; History, 21st Century ; History, Medieval ; Likelihood Functions ; Microsatellite Repeats ; Pedigree ; Reproducibility of Results ; Vitis/*genetics ; Wine/*analysis/history ; }, abstract = {Since the domestication of wild grapes ca 6000 years ago, numerous cultivars have been generated by spontaneous or deliberate crosses, and up to 10 000 are still in existence today. Just as in human paternity analysis, DNA typing can reveal unexpected parentage of grape cultivars. In this study, we have analysed 89 grape cultivars with 60 microsatellite markers in order to accurately calculate the identity-by-descent (IBD) and relatedness (r) coefficients among six putatively related cultivars from France ("Pinot", "Syrah" and "Dureza") and northern Italy ("Teroldego", "Lagrein" and "Marzemino"). Using a recently developed likelihood-based approach to analyse kinship in grapes, we provide the first evidence of a genetic link between grapes across the Alps: "Dureza" and "Teroldego" turn out to be full-siblings (FS). For the first time in grapevine genetics we were able to detect FS without knowing one of the parents and identify unexpected second-degree relatives. We reconstructed the most likely pedigree that revealed a third-degree relationship between the worldwide-cultivated "Pinot" from Burgundy and "Syrah" from the Rhone Valley. Our finding was totally unsuspected by classical ampelography and it challenges the commonly assumed independent origins of these grape cultivars. Our results and this new approach in grape genetics will (a) help grape breeders to avoid choosing closely related varieties for new crosses, (b) provide pedigrees of cultivars in order to detect inheritance of disease-resistance genes and (c) open the way for future discoveries of first- and second-degree relationships between grape cultivars in order to better understand viticultural migrations.}, }
@article {pmid16716488, year = {2006}, author = {Hultborn, H}, title = {Spinal reflexes, mechanisms and concepts: from Eccles to Lundberg and beyond.}, journal = {Progress in neurobiology}, volume = {78}, number = {3-5}, pages = {215-232}, doi = {10.1016/j.pneurobio.2006.04.001}, pmid = {16716488}, issn = {0301-0082}, mesh = {Animals ; Cats ; History, 20th Century ; Movement/physiology ; Muscle, Skeletal/innervation/physiology ; Neural Pathways/*physiology ; Neurons/*physiology ; Neurophysiology/*history ; Reflex/*physiology ; Spinal Cord/*physiology ; Synaptic Transmission/*physiology ; }, abstract = {This review focuses on investigations by Sir John Eccles and co-workers in Canberra, AUS in the 1950s, in which they used intracellular recordings to unravel the organization of neuronal networks in the cat spinal cord. Five classical spinal reflexes are emphasized: recurrent inhibition of motoneurons via motor axon collaterals and Renshaw cells, pathways from muscle spindles and Golgi tendon organs, presynaptic inhibition, and the flexor reflex. To set the scene for these major achievements I first provide a brief account of the understanding of the spinal cord in "reflex" and "voluntary" motor activities from the beginning of the 20th century. Next, subsequent work is reviewed on the convergence on spinal interneurons from segmental sensory afferents and descending motor pathways, much of which was performed and inspired by Anders Lundberg's group in Gothenburg, SWE. This work was the keystone for new hypotheses on the role of spinal circuits in normal motor control. Such hypotheses were later tested under more natural conditions; either by recording directly from interneurons in reduced animal preparations or by use of indirect non-invasive techniques in humans performing normal movements. Some of this latter work is also reviewed. These developments would not have been possible without the preceding work on spinal reflexes by Eccles and Lundberg. Finally, there is discussion of how Eccles' work on spinal reflexes remains central (1) as new techniques are introduced on direct recording from interneurons in behaving animals; (2) in experiments on plastic neuronal changes in relation to motor learning and neurorehabilitation; (3) in experiments on transgenic animals uncovering aspects of human pathophysiology; and (4) in evaluating the function of genetically identified classes of neurons in studies on the development of the spinal cord.}, }
@article {pmid16687173, year = {2007}, author = {Babicka, L and Ransdorfova, S and Brezinova, J and Zemanova, Z and Sindelarova, L and Siskova, M and Maaloufova, J and Cermak, J and Michalova, K}, title = {Analysis of complex chromosomal rearrangements in adult patients with MDS and AML by multicolor FISH.}, journal = {Leukemia research}, volume = {31}, number = {1}, pages = {39-47}, doi = {10.1016/j.leukres.2006.03.010}, pmid = {16687173}, issn = {0145-2126}, mesh = {Adult ; Aged ; Bone Marrow Cells/pathology/physiology ; *Chromosome Aberrations ; Chromosomes, Human/*genetics ; Female ; Gene Rearrangement/*genetics ; History, 16th Century ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Myeloid, Acute/*genetics/pathology ; Male ; Middle Aged ; Myelodysplastic Syndromes/*genetics/pathology ; }, abstract = {We analyzed complex chromosomal aberrations in 37 adult patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) using classical cytogenetic method, FISH with locus-specific probes, multicolor FISH (mFISH) and multicolor banding (mBAND). Unbalanced structural aberrations, leading to a gain or loss of chromosomal material, were frequently observed in bone marrow cells. In 30 patients (81.1%) loss or rearrangement of chromosome 5, 7 and/or 11 was found. The most frequent numerical change was trisomy 8 as expected (detected in six patients-16.2%) and the most frequent breakpoints 5q13, 5q33, 7q31, 10p12, 11q23, 12p13, 17p11 and 21q22 were determined.}, }
@article {pmid16680898, year = {2000}, author = {Pinheiro, MM and Gerhardt, L and Margis, R}, title = {[A technology with multiple applications].}, journal = {Historia, ciencias, saude--Manguinhos}, volume = {7}, number = {2}, pages = {465-479}, doi = {10.1590/s0104-59702000000300015}, pmid = {16680898}, issn = {0104-5970}, mesh = {Agriculture/history ; *DNA, Recombinant ; History, 20th Century ; *Plants, Genetically Modified/immunology/microbiology ; *Transgenes ; }, abstract = {Plant breeding has been a human practice for some thousands of years. However, this process of domestication has made plants more vulnerable to pests and diseases. Classic plant breeding has allowed the genetic manipulation of plants through crossings with a resulting increase in crop productivity. Recently, the recombinant DNA technology has increased the possibilities of integration of exogenous genes to the plant genome, resulting in the production of transgenic plants. Despite the great debate on this issue, such plants represent to date a promising avenue for plant breeding. There are many examples of gene transference strategies which have been successful in promoting resistance to herbicides, viruses, fungi, bacteria and insects, or in producing an increase in food quality. In addition to biotechnological applications, transgenic plants have made a significant contribution to the study of gene functioning, such as the analysis of genic expression regulation and the study of protein functions codified by distinct plant genes.}, }
@article {pmid16645033, year = {2006}, author = {Lewontin, RC}, title = {The analysis of variance and the analysis of causes. 1974.}, journal = {International journal of epidemiology}, volume = {35}, number = {3}, pages = {520-525}, doi = {10.1093/ije/dyl062}, pmid = {16645033}, issn = {0300-5771}, mesh = {Analysis of Variance ; *Causality ; Environment ; Genetic Variation/*genetics ; Genotype ; History, 20th Century ; Humans ; Models, Genetic ; Phenotype ; }, }
@article {pmid16620961, year = {2007}, author = {Lapaire, O and Holzgreve, W and Oosterwijk, JC and Brinkhaus, R and Bianchi, DW}, title = {Georg Schmorl on trophoblasts in the maternal circulation.}, journal = {Placenta}, volume = {28}, number = {1}, pages = {1-5}, doi = {10.1016/j.placenta.2006.02.004}, pmid = {16620961}, issn = {0143-4004}, support = {R01 HD 42053/HD/NICHD NIH HHS/United States ; }, mesh = {Female ; History, 19th Century ; Humans ; *Maternal-Fetal Exchange ; Obstetrics/history ; Pre-Eclampsia/*blood ; Pregnancy ; Trophoblasts/*physiology ; }, abstract = {Trafficking of cells between the fetus and its mother provides indirect clues to the underlying pathophysiology of pregnancy. Georg Schmorl first documented the presence of fetal cells in the maternal body and emphasized the importance of the placenta in eclampsia. Although his classic paper, written in 1893, is widely cited today, few investigators have actually read the paper, as it was published in German [Schmorl G., Pathologisch-anatomische Untersuchungen über Puerperal-Eklampsie. Verlag FCW Vogel, Leipzig; 1893]. Our goal was to translate the paper into English and critically re-evaluate its conclusions from a 21st century perspective. Schmorl was remarkably astute in his assessment of the pathologic changes that were seen in the 17 women on whom he performed complete autopsies. He found similar severe changes in all of the women, implying a common pathogenesis. This was in direct contrast to the then current doctrine. He was the first to observe the presence of thrombi containing multinucleated syncytial giant cells in the lungs of the women and speculated that they were of placental origin. To support his hypothesis he performed animal experiments. He also recognized that feto-maternal trafficking occurred in normal gestations but was increased in pregnancies affected by eclampsia. Using sophisticated molecular techniques we can now precisely confirm what Schmorl so elegantly described.}, }
@article {pmid16583403, year = {2006}, author = {Israelsson, C and Lewén, A and Kylberg, A and Usoskin, D and Althini, S and Lindeberg, J and Deng, CX and Fukuda, T and Wang, Y and Kaartinen, V and Mishina, Y and Hillered, L and Ebendal, T}, title = {Genetically modified bone morphogenetic protein signalling alters traumatic brain injury-induced gene expression responses in the adult mouse.}, journal = {Journal of neuroscience research}, volume = {84}, number = {1}, pages = {47-57}, doi = {10.1002/jnr.20856}, pmid = {16583403}, issn = {0360-4012}, support = {DE013085/DE/NIDCR NIH HHS/United States ; HL074862/HL/NHLBI NIH HHS/United States ; }, mesh = {Activin Receptors, Type I/genetics ; Analysis of Variance ; Animals ; Behavior, Animal/physiology ; Body Weight/genetics ; Bone Morphogenetic Proteins/*genetics ; Brain Injuries/*metabolism/pathology ; Calcium-Calmodulin-Dependent Protein Kinase Type 2 ; Calcium-Calmodulin-Dependent Protein Kinases/genetics ; Cell Death/physiology ; Gene Expression/*physiology ; Gene Expression Regulation/*physiology ; Green Fluorescent Proteins/biosynthesis ; History, Medieval ; In Situ Hybridization/methods ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; RNA, Messenger/metabolism ; Reverse Transcriptase Polymerase Chain Reaction/methods ; Signal Transduction/*physiology ; Smad4 Protein/genetics ; }, abstract = {Three genetic mouse models were examined to define effects of bone morphogenetic protein (BMP) signalling on gene expression in normal and injured adult brain. CaMKII-Cre eliminated the BMP receptor Acvr1 (Alk2) and the common TGFbeta superfamily signal mediator Smad4 or activated a constitutively active Acvr1 in postnatal forebrain neurons. All mutants followed mendelian ratios, with no overt phenotypic changes. In situ hybridization demonstrated normal patterns of the dendritic marker MAP2 (Mtap2) throughout cortex despite neuron-specific losses of Acvr1 or Smad4. However, strong up-regulation of Mtap2 transcript in these mice was found by quantitative RT-PCR (qRT-PCR), indicating that Mtap2 is normally suppressed by BMP. Traumatic brain injury (TBI) resulted in increases of histone-associated DNA fragments in both control and Smad4-deficient cortex. Several cell-type-specific transcripts known to be involved in injury-related responses were measured by qRT-PCR. Gfap mRNA was strongly up-regulated in controls as well as in the loss-of-BMP-signalling mutants. Notably, activated Acvr1 signalling gave significantly lower TBI-induced up-regulations of Gfap and Phox2a mRNA levels, indicating reductions in astroglial and neuronal reactions to injury. Strong impairment in injury-induced Timp1 transcript up-regulation was also seen in these mice. In contrast, osteopontin (Spp1) transcript levels in activated microglia were not reduced by Acvr1 signalling. Altogether, the data suggest that BMP signalling is dispensable in adult cortical neurons but that augmented BMP signalling affects molecular changes associated with neuronal lesions.}, }
@article {pmid16482687, year = {2005}, author = {Berrios, GE}, title = {Phthisical insanity by T.S. Clouston.}, journal = {History of psychiatry}, volume = {16}, number = {Pt 4 (no 64)}, pages = {473-479}, doi = {10.1177/0957154x05060729}, pmid = {16482687}, issn = {0957-154X}, mesh = {History, 19th Century ; Humans ; Mental Disorders/complications/*history ; Scotland ; Tuberculosis, Pulmonary/*history/psychology ; }, abstract = {The history of the relationship between tuberculosis and insanity has been neglected. This is surprising, for during the nineteenth century it was subject to an important medical and cultural debate and gave rise to a style of analysis which has been used ever since to study the clinical phenomenon of 'disease-coexistence' (rebaptized 'comorbidity' during the 1970s). Triggered by a perceived increase in the prevalence of tuberculosis and insanity, the debate centered around the meaning and mechanisms of disease-coexistence, techniques which may be used to rule out fortuitous associations, the comparative relevance of epidemiological, congenital, genetic and environmental factors, and the clinical effects that the members of the disease pair may have on each other. The Classic Text reprinted below provides an adequate introduction to the main issues listed above.}, }
@article {pmid16461814, year = {2006}, author = {Probst, V and Le Scouarnec, S and Legendre, A and Jousseaume, V and Jaafar, P and Nguyen, JM and Chaventré, A and Le Marec, H and Schott, JJ}, title = {Familial aggregation of calcific aortic valve stenosis in the western part of France.}, journal = {Circulation}, volume = {113}, number = {6}, pages = {856-860}, doi = {10.1161/CIRCULATIONAHA.105.569467}, pmid = {16461814}, issn = {1524-4539}, mesh = {Aortic Valve Stenosis/*epidemiology/etiology/genetics ; Calcinosis/*epidemiology/etiology/genetics ; Cluster Analysis ; Family Health ; Female ; Founder Effect ; France/epidemiology ; Genealogy and Heraldry ; Geography ; Humans ; Male ; Pedigree ; Retrospective Studies ; }, abstract = {BACKGROUND: Calcific aortic valve stenosis (CAVS) is the most common valvular defect in developed countries. Unlike mitral valve prolapse, there is no demonstration that a familial factor could play a role in the occurrence of this disease. The aim of this study was to demonstrate a familial aggregation for CAVS.<br><br>METHODS AND RESULTS: We used the files of 2527 consecutive patients operated on for CAVS in our institution between 1992 and 2002 to map the distribution of operated CAVS in the western part of France. In a second step, we investigated clinically and genealogically the clusters with the highest rates of operated CAVS to detect familial forms of the disease. The geographic distribution of CAVS is highly heterogeneous, with an average frequency of operated CAVS of 1.13 per 1000 inhabitants but up to 9.38 per 1000 in specific parishes. A screening of the population from the parishes with the highest rate of operated CAVS allowed us to identify 5 families with > or =3 sibs affected by CAVS. A large genealogical analysis performed in one of these families allowed us to link 48 patients who derived from 34 nuclear families. Genealogical information could be traced to a common ancestor within 13 generations.<br><br>CONCLUSIONS: Identification of clusters and large families affected by a classic form of CAVS demonstrates a familial aggregation for this disease.}, }
@article {pmid16385157, year = {2005}, author = {Bateman, KG}, title = {The genetic assimilation of four venation phenocopies. (Received Oct. 1, 1957).}, journal = {Journal of genetics}, volume = {84}, number = {3}, pages = {227-257}, pmid = {16385157}, issn = {0022-1333}, mesh = {Animals ; Drosophila melanogaster/genetics ; Environment ; *Genetic Variation ; Genetics/history ; History, 20th Century ; Penetrance ; *Phenotype ; Selection, Genetic ; }, }
@article {pmid16359614, year = {2005}, author = {Norris, V}, title = {Poly-(R)-3-hydroxybutyrate and the pioneering work of Rosetta Natoli Reusch.}, journal = {Cellular and molecular biology (Noisy-le-Grand, France)}, volume = {51}, number = {7}, pages = {629-634}, pmid = {16359614}, issn = {1165-158X}, mesh = {*3-Hydroxybutyric Acid/analysis/chemistry ; Animals ; Calcium Channels/*chemistry/genetics/*physiology ; Calcium-Transporting ATPases/analysis/physiology ; Computer Simulation ; DNA/analysis/chemistry/genetics ; France ; History, 20th Century ; Humans ; *Hydroxybutyrates/analysis/chemistry ; Ion Channels/chemistry/genetics/physiology ; *Ion Transport ; Membrane Transport Proteins/chemistry/genetics/physiology ; Models, Biological ; Molecular Biology/history ; *Polyesters/analysis/chemistry ; Potassium Channels/chemistry/genetics/physiology ; Prohibitins ; Protein Processing, Post-Translational ; Transformation, Genetic ; }, abstract = {In investigating genetic competence, Reusch and collaborators have found that the concentration of short chain poly-(R)-3-hydroxybutyrate (PHB) and polyphosphate (polyP) complexes increases with genetic transformability and that interrupting DNA uptake yields single-stranded donor DNA complexed with short chain PHB. This would be consistent with the organic polyphosphate, DNA, replacing the inorganic polyphosphate, polyP, in the PHB pore so allowing the DNA to be drawn into the cell. Reusch has gone on to show that PHB and polyphosphate, extracted from membranes or synthesized chemically, together form a voltage-activated calcium-selective channel. One may wonder whether the classical proteinaceous calcium channels have a short chain PHB/polyP core--and whether other ion channels have this core too. It is therefore significant that in Streptomyces lividans the potassium channel KcsA, which resembles that of eukaryotes, forms tetramers that contain polyP whilst both monomers and tetramers are covalently linked to short chain PHB. Pumps are the counterparts of channels. Reusch has also shown that a model pump, the calcium ATPase pump of human erythrocytes, contains both cPHB and polyP and has strongly implicated these polymers in its functioning. Again, one may wonder whether these polymers are essential constituents of other pumps. Reusch has gone on to show that a wide range of proteins are modified post-translationally by covalent addition of short chain PHB in both prokaryotes and eukaryotes including DNA-binding proteins such as histones. Finally, Reusch has extended the importance of short chain PHB to medicine by showing its likely involvement in atherogenic plaques and diabetes. And yet this opus has gone largely unnoticed.}, }
@article {pmid16353259, year = {2006}, author = {Stephan, MJ}, title = {A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.}, journal = {American journal of medical genetics. Part A}, volume = {140}, number = {2}, pages = {156-159}, doi = {10.1002/ajmg.a.31034}, pmid = {16353259}, issn = {1552-4825}, mesh = {Abnormalities, Multiple/genetics/*pathology ; Carrier Proteins/genetics ; Child, Preschool ; Female ; Fingers/*abnormalities ; Hearing Loss/*pathology/surgery ; History, 20th Century ; Humans ; Toes/*abnormalities ; Treatment Outcome ; }, abstract = {"Organized human endeavor can be lifted an order of magnitude through teaching if it is inspiring" (Editor, Am J Dis Child, 1972). The benevolent influence of Dr. Judy Hall's inspiring clinical teaching in the field of genetic syndromes and birth defects is illustrated through the eventual surgical remediation of conductive hearing loss for a 4-year-old girl with unusual knuckles. The fascinating history of this child's syndrome has been further explored in the descendents of the first Earl of Shrewsbury. The legends of his story and his role in the Hundred Years War were immortalized by William Shakespeare in his play Henry VI Part I, but neither Shakespeare nor historians documented that the Earl actually had abnormal finger joints. Heterozygous mutations in the human noggin gene (NOG) cause a spectrum of joint fusions, including this child's traits. On behalf of practitioners of medicine, pediatrics, clinical genetics, and dysmorphology, as well as research scientists in the many domains of genetics, thank you, Judy, for your inspiration, enthusiasm, and teaching.}, }
@article {pmid16342260, year = {2006}, author = {Mays, SA}, title = {Age-related cortical bone loss in women from a 3rd-4th century AD population from England.}, journal = {American journal of physical anthropology}, volume = {129}, number = {4}, pages = {518-528}, doi = {10.1002/ajpa.20365}, pmid = {16342260}, issn = {0002-9483}, mesh = {Age Factors ; Bone Density ; England/epidemiology ; Female ; Fractures, Bone/epidemiology/etiology/*history ; History, Ancient ; Humans ; Metacarpal Bones/*physiology ; Osteoporosis, Postmenopausal/complications/epidemiology/*history ; Paleopathology ; Prevalence ; }, abstract = {Age-dependent cortical bone loss in adult females from a skeletal assemblage from 3rd-4th century AD England was studied using metacarpal radiogrammetry. Results showed reduced peak cortical bone thickness compared with modern subjects, and the magnitude of cortical bone loss in older females compared with their younger counterparts was greater than that documented for a modern reference population. An elevated prevalence of fractures classically associated with osteoporosis was also observed in the over-50-year cohort. The severity of osteoporosis in this group is difficult to explain in terms of extraneous factors relating to 3rd-4th century lifestyles. Given the important genetic component in osteoporosis, the results may indicate some inherent susceptibility in this particular population to the disease, and ways in which this possibility might be further explored are suggested.}, }
@article {pmid16313521, year = {2005}, author = {Kerr, A}, title = {Understanding genetic disease in a socio-historical context: a case study of cystic fibrosis.}, journal = {Sociology of health &amp; illness}, volume = {27}, number = {7}, pages = {873-896}, doi = {10.1111/j.1467-9566.2005.00462.x}, pmid = {16313521}, issn = {0141-9889}, mesh = {Cystic Fibrosis/diagnosis/genetics/*history/therapy ; Decision Support Techniques ; History, 20th Century ; Humans ; Molecular Biology/*history ; Sociology, Medical/*history ; }, abstract = {In this article I present a socio-historical analysis of the definition and diagnosis of one particular genetic disease--cystic fibrosis (CF)--in an effort the better to understand its social context both before and after the advent of molecular genetics. I begin my analysis with some background on the history of CF, before moving on to consider the emergence of the notion of classic CF, the development of the sweat test, early approaches to mild or variant forms of CF, the concept of CF as a genetic disease, the concept of CF as a collection of related disorders, and developments in the understanding and diagnosis of CF which came about in the wake of molecular genetics. I highlight a range of technological, professional and patient developments and how these stimulated new research, typologies and clinical tools. I also consider how different notions of CF were mobilised, either to support or undermine a particular approach to diagnosis or treatment, and consider how the dynamic and contextual characteristics of CF were accounted for by scientists and clinicians with an interest in CF. I end by discussing the implications of my analysis for the contemporary sociology of genetics, and related studies in the sociology of medicine more generally.}, }
@article {pmid16285088, year = {2005}, author = {Canali, S}, title = {From splenic anemia in infancy to microcythemia. The Italian contribution to the description of the genetic bases of Thalassemia.}, journal = {Medicina nei secoli}, volume = {17}, number = {1}, pages = {161-179}, pmid = {16285088}, issn = {0394-9001}, mesh = {Biomedical Research/*history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Italy/epidemiology ; beta-Thalassemia/epidemiology/genetics/*history ; }, abstract = {This article traces out part of the history of studies of the genetic bases of thalassemia carried out in Italy. In particular it illustrates the research and discussions that between the late 1920s and the second half of the 1940s led to the description of the genetic basis of beta-thalassemia. The article encountered by Italian research, explaining why, despite the large number of thalassemia cases and data collected for this disease, Italian researchers succeeded in demonstrating its Mendelian transmission only at the same time as the US researchers.}, }
@article {pmid16285084, year = {2005}, author = {Vardeu, F}, title = {[Epistemology and b-thalassemia].}, journal = {Medicina nei secoli}, volume = {17}, number = {1}, pages = {123-128}, pmid = {16285084}, issn = {0394-9001}, mesh = {Female ; Genetics, Population/*history ; History, 20th Century ; Humans ; Italy/epidemiology ; Male ; Pediatrics/history ; beta-Thalassemia/epidemiology/genetics/*history ; }, abstract = {In this work the author examines the epistemological pathway to the study, diagnosis and therapy of b-thalassemia, serious and very frequent genetic disease in the Italian and Sardinian population know to paediatricians since 1925. The author critically explores the historical approaches to the comprehension of the disease, the phenotype characteristics, firstly described in Italy in 1929, and its familiarity, also described from several authors in the same years. The frequency and the variability of the disease in the population were poorly understood, partly because haematology was still under development and partly for the presence in the patients and in the general population of confounding symptoms and diseases. The hereditary transmission according to Mendelian laws was applied only to the study of few phenotype characteristics, in the attempt to limit the familiar transmission from the long surviving patients. For over 50 years the disease was considered lethal and there were not studies on the real efficacy of the available treatments.}, }
@article {pmid16271764, year = {2005}, author = {Roll-Hansen, N}, title = {The Lysenko effect: undermining the autonomy of science.}, journal = {Endeavour}, volume = {29}, number = {4}, pages = {143-147}, doi = {10.1016/j.endeavour.2005.10.003}, pmid = {16271764}, issn = {0160-9327}, mesh = {Agriculture/*history ; Biology/history ; Biomedical Research/*history ; Communism/*history ; Education, Medical/history ; Genetics/education/*history ; History, 20th Century ; Models, Biological ; Politics ; Propaganda ; USSR ; }, abstract = {The "Lysenko affair", which lasted roughly from the mid-1930s to the mid-1960s, was the big scandal of 20th-century science: a classic example of how politics can corrupt and undermine its rational basis. Under Stalin's leadership the Soviet Government suppressed genuine genetics and other sound biology, with devastating consequences for agriculture and health. The worst example of this occurred in August 1948 when the Politburo outlawed the teaching of and research into classical Mendelian genetics. There is broad agreement that this case offers a stark warning against politicians interfering with science. But what, precisely, is this interference that we are being warned about? Whereas the fate of genetics in Soviet Russia was a clear-cut example of direct suppression, there were also other less obvious ways in which politics subverted the scientific process. This indirect interference with science is a persistent feature of modern politics that we need to be on the lookout for.}, }
@article {pmid16240545, year = {2005}, author = {Rudge, DW}, title = {Did Kettlewell commit fraud? Re-examining the evidence.}, journal = {Public understanding of science (Bristol, England)}, volume = {14}, number = {3}, pages = {249-268}, doi = {10.1177/0963662505052890}, pmid = {16240545}, issn = {0963-6625}, mesh = {Animals ; Biological Evolution ; Biology/history ; History, 20th Century ; Industry ; *Moths ; *Pigmentation ; Research/history ; Scientific Misconduct/*history ; *Selection, Genetic ; }, abstract = {H.B.D. Kettlewell is famous for several investigations conducted in the early 1950s on the phenomenon of industrial melanism, which are widely regarded as the classic demonstration of natural selection. In a recent (2002) book-length popularization of this episode in the history of the science, science writer Judith Hooper draws attention to what she interprets as discrepancies in the results reported by Kettlewell in his first scientific papers on the subject. On the basis of correspondence among Kettlewell and his associates, a survey of scientific publications that mention outstanding questions surrounding the phenomenon, as well as interviews with his son, surviving colleagues, and scientists who have worked on industrial melanims, Hooper all but explicitly concludes that Kettlewell committed fraud. The following essay critically examines her evidence in support of this allegation, including her discussion of his character, the alleged motives, and whether fraud was even committed. None of Hooper's arguments is found to withstand careful scrutiny. The concluding section draws several conclusions about how history of science should be depicted to the public.}, }
@article {pmid16220609, year = {2005}, author = {Beamer, WG and Shultz, KL and Donahue, LR and Churchill, GA and Sen, S and Wergedal, JR and Baylink, DJ and Rosen, CJ}, title = {Quantitative trait loci for femoral and lumbar vertebral bone mineral density in C57BL/6J and C3h/HeJ inbred strains of mice. (2001).}, journal = {Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research}, volume = {20}, number = {9}, pages = {1701-12; discussion 1700}, doi = {10.1359/jbmr.2005.20.9.1700}, pmid = {16220609}, issn = {0884-0431}, mesh = {Alleles ; Analysis of Variance ; Animals ; Bone Density/*genetics ; *Chromosome Mapping ; Chromosomes/genetics ; Crosses, Genetic ; Female ; Femur/*metabolism ; Genetic Markers ; History, 20th Century ; Hybridization, Genetic ; Inbreeding ; Lod Score ; Lumbar Vertebrae/*metabolism ; Male ; Mice ; Mice, Inbred C3H ; Mice, Inbred C57BL ; *Quantitative Trait, Heritable ; }, }
@article {pmid16207952, year = {2005}, author = {Prodinger, WM and Brandstätter, A and Naumann, L and Pacciarini, M and Kubica, T and Boschiroli, ML and Aranaz, A and Nagy, G and Cvetnic, Z and Ocepek, M and Skrypnyk, A and Erler, W and Niemann, S and Pavlik, I and Moser, I}, title = {Characterization of Mycobacterium caprae isolates from Europe by mycobacterial interspersed repetitive unit genotyping.}, journal = {Journal of clinical microbiology}, volume = {43}, number = {10}, pages = {4984-4992}, pmid = {16207952}, issn = {0095-1137}, mesh = {Animals ; Animals, Wild/microbiology ; *Bacterial Typing Techniques ; Cattle ; Cattle Diseases/microbiology ; DNA Transposable Elements/genetics ; Europe/epidemiology ; Genotype ; Goat Diseases/microbiology ; Goats/microbiology ; History, 20th Century ; Humans ; Interspersed Repetitive Sequences/*genetics ; Minisatellite Repeats/genetics ; Mycobacterium/*classification/genetics/isolation &amp; purification ; Oligonucleotides/analysis ; Polymorphism, Restriction Fragment Length ; Tuberculosis/*epidemiology/microbiology/veterinary ; }, abstract = {Mycobacterium caprae, a recently defined member of the Mycobacterium tuberculosis complex, causes tuberculosis among animals and, to a limited extent, in humans in several European countries. To characterize M. caprae in comparison with other Mycobacterium tuberculosis complex members and to evaluate genotyping methods for this species, we analyzed 232 M. caprae isolates by mycobacterial interspersed repetitive unit (MIRU) genotyping and by spoligotyping. The isolates originated from 128 distinct epidemiological settings in 10 countries, spanning a period of 25 years. We found 78 different MIRU patterns (53 unique types and 25 clusters with group sizes from 2 to 9) but only 17 spoligotypes, giving Hunter-Gaston discriminatory indices of 0.941 (MIRU typing) and 0.665 (spoligotyping). For a subset of 103 M. caprae isolates derived from outbreaks or endemic foci, MIRU genotyping and IS 6110 restriction fragment length polymorphism were compared and shown to provide similar results. MIRU loci 4, 26, and 31 were most discriminant in M. caprae, followed by loci 10 and 16, a combination which is different than those reported to discriminate M. bovis best. M. caprae MIRU patterns together with published data were used for phylogenetic inference analysis employing the neighbor-joining method. M. caprae isolates were grouped together, closely related to the branches of classical M. bovis, M. pinnipedii, M. microti, and ancestral M. tuberculosis, but apart from modern M. tuberculosis. The analysis did not reflect geographic patterns indicative of origin or spread of M. caprae. Altogether, our data confirm M. caprae as a distinct phylogenetic lineage within the Mycobacterium tuberculosis complex.}, }
@article {pmid16196126, year = {2005}, author = {Perry, KL and Elledge, SJ and Mitchell, BB and Marsh, L and Walker, GC}, title = {umuDC and mucAB operons whose products are required for UV light- and chemical-induced mutagenesis: UmuD, MucA, and LexA proteins share homology. 1985.}, journal = {DNA repair}, volume = {4}, number = {9}, pages = {1054-1058}, pmid = {16196126}, issn = {1568-7864}, mesh = {Amino Acid Sequence ; Bacterial Proteins/genetics/*history ; Base Sequence ; DNA Repair ; DNA-Directed DNA Polymerase ; Escherichia coli/*genetics ; Escherichia coli Proteins ; History, 20th Century ; *Mutagenesis/drug effects/radiation effects ; *Operon ; Reading Frames ; Sequence Homology, Nucleic Acid ; Serine Endopeptidases/genetics/*history ; Ultraviolet Rays ; }, }
@article {pmid16196125, year = {2005}, author = {Kenyon, CJ and Walker, GC}, title = {DNA-damaging agents stimulate gene expression at specific loci in Escherichia coli. 1980.}, journal = {DNA repair}, volume = {4}, number = {9}, pages = {1049-1053}, pmid = {16196125}, issn = {1568-7864}, mesh = {DNA Repair ; DNA, Bacterial/genetics/*history ; Enzyme Induction/drug effects/radiation effects ; Escherichia coli/*drug effects/genetics ; Gene Expression/*drug effects ; History, 20th Century ; Lac Operon ; Mitomycins/*pharmacology ; Recombination, Genetic ; Ultraviolet Rays ; beta-Galactosidase/genetics/history ; }, }
@article {pmid16184630, year = {2005}, author = {Van Epps, HL}, title = {T cell traffic signals.}, journal = {The Journal of experimental medicine}, volume = {202}, number = {4}, pages = {460}, pmid = {16184630}, issn = {0022-1007}, mesh = {Animals ; Cell Movement/*immunology ; History, 20th Century ; Humans ; *Immunologic Memory ; Lymphocyte Activation/*immunology ; Molecular Biology/history ; T-Lymphocytes/*immunology ; }, abstract = {In 1990, Charles Mackay and colleagues combined classical physiology with modern molecular biology to provide the first concrete evidence that naive and memory T cells follow distinct migratory routes out of the bloodstream--a discovery that helped invigorate the field of lymphocyte homing.}, }
@article {pmid16180199, year = {2005}, author = {Liu, Y}, title = {Darwin and Mendel: who was the pioneer of genetics?.}, journal = {Rivista di biologia}, volume = {98}, number = {2}, pages = {305-322}, pmid = {16180199}, issn = {0035-6050}, mesh = {Animals ; Austria ; Biological Evolution ; Genetic Research/*history ; Genetics/*history ; History, 19th Century ; Humans ; *Hybridization, Genetic/genetics ; *Inheritance Patterns/genetics ; Plants ; Selection, Genetic ; United Kingdom ; }, abstract = {Although Mendel is now widely recognized as the founder of genetics, historical studies have shown that he did not in fact propose the modern concept of paired characters linked to genes, nor did he formulate the two "Mendelian laws" in the form now given. Furthermore, Mendel was accused of falsifying his data, and Mendelism has been met with scepticism because of its failure to provide scientific explanation for evolution, to furnish a basis for the process of genetic assimilation and to explain the inheritance of acquired characters, graft hybridization and many other facts. Darwin was the first to clearly describe almost all genetical phenomena of fundamental importance, and was the first to present a developmental theory of heredity--Pangenesis, which not only greatly influenced many subsequent theories of inheritance, particularly those of de Vries, Galton, Brooks and Weismann, but also tied all aspects of variation, heredity and development together, provided a mechanism for most of the observable facts, and is supported by increasing evidence. It has also been indicated that Darwin's influence on Mendel, primarily from The Origin, is evident. The word "gene" was derived from "pangen", itself a derivative of "Pangenesis" which Darwin had coined. It seems that Darwin should have been regarded as the pioneer, if not of transmissional genetics, of developmental genetics and molecular genetics.}, }
@article {pmid16137599, year = {2005}, author = {Müller-Wille, S}, title = {Early Mendelism and the subversion of taxonomy: epistemological obstacles as institutions.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {36}, number = {3}, pages = {465-487}, doi = {10.1016/j.shpsc.2005.07.001}, pmid = {16137599}, issn = {1369-8486}, mesh = {Academies and Institutes/*history/organization &amp; administration ; Breeding/history ; Classification/*methods ; Forms and Records Control ; *Genes, Plant ; History, 19th Century ; History, 20th Century ; Humans ; *Hybridization, Genetic ; Knowledge ; Pedigree ; Sweden ; }, abstract = {This paper presents and discusses a series of hybridization experiments carried out by Nils Herman Nilsson-Ehle between 1900 and 1907 at a plant breeding station in Svalöf, Sweden. Since the late 1880s, the Svalöf station had been renowned for its 'scientific' breeding methods, which basically consisted of an elaborate system of record-keeping through which the offspring of individual plants were traced over generations while being meticulously described. This record system corresponded to a certain breeding technique (the so-called 'pedigree method') and certain theoretical convictions (mutational rise of new varieties, and non-productivity of selection). Inspired by Tschermack's translation of Mendel's Pisum-paper, Nilsson-Ehle began his experiments in 1900 and published a first, major synthesis of his findings in 1908. If one compares these experiments as documented in the breeding records, with their representations in print, one encounters discrepancies in terms of procedure and presentation of data. This can be explained by the fact that Nilsson-Ehle was obliged to follow the recording and breeding procedures institutionalised at Svalöf, and these procedures, grounded in a taxonomic discourse, left little room for Mendelian hybridisation experiments. The twists and turns that this story takes are analysed in terms of Bachelardian philosophy of science, where the 'epistemological obstacle' functions as a central, analytic category. In contrast to Bachelard, however, I will characterise these obstacles as being of an institutional, rather than mental, nature. Thus characterized, moreover, they turn out to have been prerequisites as much as barriers to scientific progress.}, }
@article {pmid16133188, year = {2005}, author = {Harper, PS}, title = {William Bateson, human genetics and medicine.}, journal = {Human genetics}, volume = {118}, number = {1}, pages = {141-151}, pmid = {16133188}, issn = {0340-6717}, mesh = {Genetic Diseases, Inborn/genetics ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Metabolism, Inborn Errors/genetics ; Societies ; United Kingdom ; }, abstract = {The importance of human genetics in the work of William Bateson (1861-1926) and in his promotion of Mendelism in the decade following the 1900 rediscovery of Mendel's work is described. Bateson had close contacts with clinicians interested in inherited disorders, notably Archibald Garrod, to whom he suggested the recessive inheritance of alkaptonuria, and the ophthalmologist Edward Nettleship, and he lectured extensively to medical groups. Bateson's views on human inheritance were far sighted and cautious. Not only should he be regarded as one of the founders of human genetics, but human genetics itself should be seen as a key element of the foundations of mendelian inheritance, not simply a later development from knowledge gained by study of other species.}, }
@article {pmid16131710, year = {2005}, author = {Drinkwater, H}, title = {A second Brachydactylous Family. 1915.}, journal = {Journal of genetics}, volume = {84}, number = {2}, pages = {99-121}, doi = {10.1007/BF02715836}, pmid = {16131710}, issn = {0022-1333}, mesh = {Female ; Foot Deformities, Congenital/genetics/history ; Hand Deformities, Congenital/genetics/*history ; History, 20th Century ; Humans ; Male ; Pedigree ; }, }
@article {pmid16130840, year = {2005}, author = {Veleminský, P and Dobisíková, M}, title = {Morphological likeness of the skeletal remains in a Central European family from 17th to 19th century.}, journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen}, volume = {56}, number = {2}, pages = {173-196}, doi = {10.1016/j.jchb.2005.05.005}, pmid = {16130840}, issn = {0018-442X}, mesh = {*Anthropology, Physical ; Bone and Bones/*anatomy &amp; histology ; Burial/history ; Czech Republic ; *Family ; Female ; History, 17th Century ; History, 18th Century ; History, 19th Century ; Humans ; Male ; Pedigree ; Social Class ; }, abstract = {In spite of a recent preferential application of molecular genetic methods to kinship determination of anonymous human skeletal remains, the classical anthropological methods cannot be rejected as they are simple, quick and give access to a large part of a genome. This paper deals with the extent of morphological skeletal similarity in persons of known genealogical relationship. The skeletal remains of eight individuals from the family tomb of the Swéerts-Sporck's noble family in castle Kuks, East Bohemia, Czech Republic were analysed. Basic personal details, as well as data on their genealogical relationship, were available. Individuals were compared according to 173 anatomical variants--epigenetic traits, 90 of which were located on the skull and 83 on the postcranial skeleton. For each trait the percentile coincidence and/or difference were calculated. We observed the highest coincidence between the father and his son. These two individuals showed both closest correlation in the presence and the least difference in the occurrence of anatomical variants, as well as a high value of paternal probability. Clear kinship was also detected among cousins of the same or opposite sex. However, kinship between brother and sister was not so evident. The greatest difference was observed amongst biologically unrelated family members such as women who married into the family. The individuals under investigation showed a significantly higher occurrence of three among four traits of the sella turcica (ponticulus carotico-clinoideus, ponticulus interclinoideus, taenia interclinoidea; 99% confidence). A significantly higher occurrence of the ponticuli basales ossis sphenoidalis, palatine torus and the costal articular surface on the body of 7th cervical vertebrae was also found (95% confidence). Our results, therefore, suggest that these morphological variants might be considered as family-specific traits.}, }
@article {pmid16116160, year = {2005}, author = {Hedrick, SM and Cohen, DI and Nielsen, EA and Davis, MM}, title = {Isolation of cDNA clones encoding T cell-specific membrane-associated proteins. 1984.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {175}, number = {5}, pages = {2771-2775}, pmid = {16116160}, issn = {0022-1767}, mesh = {Animals ; DNA, Complementary/*history/isolation &amp; purification ; Gene Rearrangement, T-Lymphocyte ; History, 20th Century ; Mice ; Receptors, Antigen, T-Cell/*genetics ; }, }
@article {pmid16104841, year = {2005}, author = {Mounolou, JC and Lacroute, F}, title = {Mitochondrial DNA: an advance in eukaryotic cell biology in the 1960s.}, journal = {Biology of the cell}, volume = {97}, number = {9}, pages = {743-748}, doi = {10.1042/BC20040128}, pmid = {16104841}, issn = {0248-4900}, mesh = {Animals ; *DNA, Mitochondrial ; Extrachromosomal Inheritance ; History, 20th Century ; Yeasts/cytology/genetics ; }, abstract = {Between 1950 and 1960 mitochondria were recognized as well-characterized organelles of animal and fungal cells. They shared more functional autonomy than other cellular structures. The transmission of some mitochondrial characteristics did not obey Mendelian rules and followed cytoplasmic inheritance patterns. Was this situation a consequence of still unknown complexities? We present a personal account on how approaches were set up to test very different hypotheses. In the end, it was shown that mitochondria had their own DNA, mitochondrial DNA, and that this molecule carried information specific to these organelles.}, }
@article {pmid16083007, year = {2005}, author = {Antonov, AS}, title = {[Genosystematics: from E. Chargaff and A. N. Belozersky up to date].}, journal = {Molekuliarnaia biologiia}, volume = {39}, number = {4}, pages = {581-589}, pmid = {16083007}, issn = {0026-8984}, mesh = {*Evolution, Molecular ; *Genomics ; History, 20th Century ; History, 21st Century ; Nucleic Acids/metabolism ; *Phylogeny ; }, abstract = {A review of history of genosystematics (macromolecular systematics) from E. Chargaff and A. N. Belozersky up to date. The role of A.N. Belozersky and his collaborators in the development of this new branch of systematics is analyzed. Genosystematics was the source of valuable information clarifying some aspects of biological evolution. Its methods were successfully employed in microorganisms--(e.g., discovery of archaebacteria) and in eucaryote systematics (origin of plastids, falcification of "molecular clock" hypothesis, substantial changes in higher plants phylogenetics, etc.). However, attempts to employ some fragmentary and unreliable data obtained by genosystematics for modifying the existing phylogenetic schemes and systems of organisms failed. Nowadays genosystematics is like a newborn child suffering from children's diseases well-known to "classical" systematics. It is rather far from final conclusions describing the evolution of genotypes. Some of its recent achievments, e.g., elaboration of the concept of PhyloCode, allow to believe that this science is able to suggest revolutionary changes in Linnean systematics.}, }
@article {pmid15999435, year = {2005}, author = {Jacob, F and Perrin, D and Sánchez, C and Monod, J and Edelstein, S}, title = {The operon: a group of genes with expression coordinated by an operator. C.R.Acad. Sci. Paris 250 (1960) 1727-1729.}, journal = {Comptes rendus biologies}, volume = {328}, number = {6}, pages = {514-520}, doi = {10.1016/j.crvi.2005.04.005}, pmid = {15999435}, issn = {1631-0691}, mesh = {Acetyltransferases/genetics/history ; Escherichia coli/genetics ; Escherichia coli Proteins/genetics/history ; History, 20th Century ; *Lac Operon ; Membrane Transport Proteins/genetics/history ; Translations ; beta-Galactosidase/genetics/history ; }, }
@article {pmid15996164, year = {2005}, author = {McIntosh, I and Dunston, JA and Liu, L and Hoover-Fong, JE and Sweeney, E}, title = {Nail patella syndrome revisited: 50 years after linkage.}, journal = {Annals of human genetics}, volume = {69}, number = {Pt 4}, pages = {349-363}, doi = {10.1111/j.1529-8817.2005.00191.x}, pmid = {15996164}, issn = {0003-4800}, support = {AR 44702/AR/NIAMS NIH HHS/United States ; }, mesh = {ABO Blood-Group System/genetics/*history ; Amino Acid Sequence ; Animals ; *Genetic Linkage ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Sequence Data ; Nail-Patella Syndrome/genetics/*history ; }, abstract = {Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the nails, knees, elbows and the presence of iliac horns. Kidney disease and glaucoma are now recognised as part of the syndrome. Fifty years ago, James Renwick chose NPS to develop methods of linkage analysis in humans and revealed the third linkage group identified in man--that between NPS and the ABO blood group loci. After a fallow period of some forty years, the gene mutated in NPS has been identified (LMX1B) and the condition serves as a model for understanding the complex relationships between disease loci, modifier genes and the resultant clinical phenotype.}, }
@article {pmid15989747, year = {2005}, author = {Liew, SH and Elsner, H and Spector, TD and Hammond, CJ}, title = {The first "classical" twin study? Analysis of refractive error using monozygotic and dizygotic twins published in 1922.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {8}, number = {3}, pages = {198-200}, doi = {10.1375/1832427054253158}, pmid = {15989747}, issn = {1832-4274}, mesh = {Diseases in Twins/genetics/*history ; Female ; History, 20th Century ; Humans ; Male ; Phenotype ; Refractive Errors/genetics/*history ; Twin Studies as Topic/*history ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics ; }, abstract = {The first classical twin studies, recognizing the potential of comparing findings in identical twins, have previously been reported to be those by Siemens and by Merriman, both published in 1924. However, we would like to bring to attention a study performed by Walter Jablonski, 2 years earlier (1922), investigating the contribution of heredity to refraction in human eyes. Jablonski examined the eyes of 52 twin pairs and by comparing the size of within-pair differences between identical and nonidentical twins was able to infer the heritability of a trait. Therefore, this is likely to be the first reported classical twin study.}, }
@article {pmid15981323, year = {2005}, author = {Radman, M}, title = {SOS replication: a distinct DNA replication mechanism which is induced by DNA-damaging treatments? 1970.}, journal = {DNA repair}, volume = {4}, number = {6}, pages = {732-738}, pmid = {15981323}, issn = {1568-7864}, mesh = {DNA Repair ; *DNA Replication ; DNA, Bacterial ; Escherichia coli/*genetics/radiation effects ; *Genes, Bacterial ; History, 20th Century ; Models, Biological ; Mutation ; *SOS Response, Genetics ; Ultraviolet Rays ; }, }
@article {pmid15981320, year = {2005}, author = {Witkin, EM}, title = {The radiation sensitivity of Escherichia coli B: a hypothesis relating filament formation and prophage induction. 1967.}, journal = {DNA repair}, volume = {4}, number = {6}, pages = {727-731}, pmid = {15981320}, issn = {1568-7864}, mesh = {DNA Damage/*radiation effects ; DNA Replication ; DNA, Bacterial ; Dose-Response Relationship, Radiation ; Escherichia coli/*genetics/radiation effects ; *Genes, Bacterial ; *Genes, Suppressor ; History, 20th Century ; Lysogeny ; Mitosis/radiation effects ; Models, Biological ; Mutation ; Prophages/*radiation effects ; Ultraviolet Rays ; }, }
@article {pmid15960467, year = {2005}, author = {Nørby, S}, title = {[Mendelian randomization].}, journal = {Ugeskrift for laeger}, volume = {167}, number = {19}, pages = {2074}, pmid = {15960467}, issn = {0041-5782}, mesh = {*Epidemiology/history ; *Genetics/history ; History, 19th Century ; Humans ; *Random Allocation ; }, }
@article {pmid15953182, year = {2005}, author = {Pink, JR}, title = {Importance of counting in biology.}, journal = {Scandinavian journal of immunology}, volume = {62 Suppl 1}, number = {}, pages = {36-38}, doi = {10.1111/j.1365-3083.2005.01606.x}, pmid = {15953182}, issn = {0300-9475}, mesh = {Allergy and Immunology/history/statistics &amp; numerical data ; Animals ; *Data Interpretation, Statistical ; History, 20th Century ; Lymphocyte Count/*history/statistics &amp; numerical data ; *Research Design ; }, abstract = {In this study, analysis of biological problems through structural and quantitative approaches is described. Classical genetics on major histocompatibility complex in avian species has been evaluated. Experiments showing that antibodies from various individuals were generally distinct have led to further analysis of immunoglobulin light chain diversity by means of O'Farrell's 2D gel technique. The transition of the research towards vaccine development has been described. 'It's not the voting that's democracy, it's the counting.' - Tom Stoppard (Czech-born dramatist), Jumpers (1972) act 1.}, }
@article {pmid19260196, year = {2005}, author = {Darden, L}, title = {Relations among fields: Mendelian, cytological and molecular mechanisms.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {36}, number = {2}, pages = {349-371}, doi = {10.1016/j.shpsc.2005.03.007}, pmid = {19260196}, issn = {1369-8486}, mesh = {*Biological Evolution ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; *Interdisciplinary Communication ; Models, Genetic ; Molecular Biology/*history ; Philosophy/*history ; *Selection, Genetic ; }, abstract = {Philosophers have proposed various kinds of relations between Mendelian genetics and molecular biology: reduction, replacement, explanatory extension. This paper argues that the two fields are best characterized as investigating different, serially integrated, hereditary mechanisms. The mechanisms operate at different times and contain different working entities. The working entities of the mechanisms of Mendelian heredity are chromosomes, whose movements serve to segregate alleles and independently assort genes in different linkage groups. The working entities of numerous mechanisms of molecular biology are larger and smaller segments of DNA plus related molecules. Discovery of molecular DNA mechanisms filled black boxes that were noted, but unilluminated, by Mendelian genetics.}, }
@article {pmid15917497, year = {2005}, author = {Kim, KJ and Choi, KS and Jansen, RK}, title = {Two chloroplast DNA inversions originated simultaneously during the early evolution of the sunflower family (Asteraceae).}, journal = {Molecular biology and evolution}, volume = {22}, number = {9}, pages = {1783-1792}, doi = {10.1093/molbev/msi174}, pmid = {15917497}, issn = {0737-4038}, mesh = {Amino Acid Sequence ; Asteraceae/classification/*genetics ; Base Sequence ; Chromosome Inversion/classification/*genetics ; Chromosome Mapping ; Cloning, Molecular ; *DNA, Chloroplast ; *Evolution, Molecular ; Genome, Plant ; History, Ancient ; Molecular Sequence Data ; Phylogeny ; Sequence Homology, Nucleic Acid ; }, abstract = {The chloroplast DNA (cpDNA) inversion in the Asteraceae has been cited as a classic example of using genomic rearrangements for defining major lineages of plants. We further characterize cpDNA inversions in the Asteraceae using extensive sequence comparisons among 56 species, including representatives of all major clades of the family and related families. We determine the boundaries of the 22-kb (now known as 22.8 kb) inversion that defines a major split within the Asteraceae, and in the process, we characterize the second and a new, smaller 3.3-kb inversion that occurs at one end of the larger inversion. One end point of the smaller inversion is upstream of the trnE-UUC gene, and the other end point is located between the trnC-GCA and rpoB genes. Although a diverse sampling of Asteraceae experienced substantial length variation and base substitution during the long evolutionary history subsequent to the inversion events, the precise locations of the inversion end points are identified using comparative sequence alignments in the inversion regions. The phylogenetic distribution of two inversions is identical among the members of Asteraceae, suggesting that the inversion events likely occurred simultaneously or within a short time period shortly after the origin of the family. Estimates of divergence times based on ndhF and rbcL sequences suggest that two inversions originated during the late Eocene (38-42 MYA). The divergence time estimates also suggest that the Asteraceae originated in the mid Eocene (42-47 MYA).}, }
@article {pmid15905492, year = {2005}, author = {Kärre, K and Ljunggren, HG and Piontek, G and Kiessling, R}, title = {Selective rejection of H-2-deficient lymphoma variants suggests alternative immune defence strategy. 1986.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {174}, number = {11}, pages = {6566-6569}, pmid = {15905492}, issn = {0022-1767}, mesh = {Animals ; Cell Line, Tumor ; *Cytotoxicity, Immunologic/genetics ; Graft Rejection/genetics/*history/immunology ; H-2 Antigens/genetics/*history ; History, 20th Century ; Immunity, Innate/genetics ; Killer Cells, Natural/*immunology/metabolism ; Lymphoma, T-Cell/genetics/*history/*immunology ; Mice ; Mice, Inbred A ; Mice, Inbred C57BL ; Neoplasm Transplantation/history ; }, }
@article {pmid15881692, year = {2005}, author = {Ross-Ibarra, J}, title = {Quantitative trait loci and the study of plant domestication.}, journal = {Genetica}, volume = {123}, number = {1-2}, pages = {197-204}, doi = {10.1007/s10709-004-2744-6}, pmid = {15881692}, issn = {0016-6707}, mesh = {*Breeding ; Crops, Agricultural/*genetics ; *Natural History ; *Quantitative Trait Loci ; Selection, Genetic ; }, abstract = {Plant domestication ranks as one of the most important developments in human history, giving human populations the potential to harness unprecedented quantities of the earth's resources. But domestication has also played a more subtle historical role as the foundation of the modern study of evolution and adaptation. Until recently, however, researchers interested in domestication were limited to studying phenotypic changes or the genetics of simple Mendelian traits, when often the characters of most interest--fruit size, yield, height, flowering time, etc.--are quantitative in nature. The goals of this paper are to review some of the recent work on the quantitative genetics of plant domestication, identify some of the common trends found in this literature, and offer some novel interpretations of the data that is currently available.}, }
@article {pmid15876581, year = {2005}, author = {Maynard Smith, J}, title = {Acclimatization to high temperatures in inbred and outbred Drosophila subobscura. J. Genet. 1956, 54, 497-505.}, journal = {Journal of genetics}, volume = {84}, number = {1}, pages = {37-45}, pmid = {15876581}, issn = {0022-1333}, mesh = {*Acclimatization ; Animals ; Drosophila/*physiology ; Female ; History, 20th Century ; History, 21st Century ; *Hot Temperature ; Male ; Molecular Biology/*history ; }, }
@article {pmid15876580, year = {2005}, author = {Maynard Smith, J}, title = {Fertility, mating behaviour and sexual selection in Drosophila subobscura. J. Genet. 1956, 54, 261-279.}, journal = {Journal of genetics}, volume = {84}, number = {1}, pages = {17-35}, pmid = {15876580}, issn = {0022-1333}, mesh = {Animals ; Drosophila/*physiology ; Female ; Fertility ; History, 20th Century ; History, 21st Century ; Male ; Molecular Biology/*history ; *Selection, Genetic ; Sexual Behavior, Animal/*physiology ; }, }
@article {pmid15834982, year = {2005}, author = {Olsen, J and Thulstrup, AM}, title = {[Mendelian randomization. Danish Society of Epidemiology].}, journal = {Ugeskrift for laeger}, volume = {167}, number = {12-13}, pages = {1383}, pmid = {15834982}, issn = {0041-5782}, mesh = {Austria ; Denmark ; Epidemiology/*history ; Genetics/*history ; History, 19th Century ; Humans ; *Random Allocation ; Societies, Medical ; }, }
@article {pmid15812549, year = {2005}, author = {Detours, V and Wattel, S and Venet, D and Hutsebaut, N and Bogdanova, T and Tronko, MD and Dumont, JE and Franc, B and Thomas, G and Maenhaut, C}, title = {Absence of a specific radiation signature in post-Chernobyl thyroid cancers.}, journal = {British journal of cancer}, volume = {92}, number = {8}, pages = {1545-1552}, pmid = {15812549}, issn = {0007-0920}, mesh = {Adenoma/classification/genetics ; Adolescent ; Adult ; Algorithms ; Carcinoma, Papillary/classification/*genetics ; *Chernobyl Nuclear Accident ; Child ; Female ; Gene Expression/*radiation effects ; Gene Expression Profiling ; Humans ; In Situ Hybridization ; Male ; Middle Aged ; Neoplasms, Radiation-Induced/*genetics ; Oligonucleotide Array Sequence Analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Thyroid Neoplasms/classification/*genetics ; }, abstract = {Thyroid cancers have been the main medical consequence of the Chernobyl accident. On the basis of their pathological features and of the fact that a large proportion of them demonstrate RET-PTC translocations, these cancers are considered as similar to classical sporadic papillary carcinomas, although molecular alterations differ between both tumours. We analysed gene expression in post-Chernobyl cancers, sporadic papillary carcinomas and compared to autonomous adenomas used as controls. Unsupervised clustering of these data did not distinguish between the cancers, but separates both cancers from adenomas. No gene signature separating sporadic from post-Chernobyl PTC (chPTC) could be found using supervised and unsupervised classification methods although such a signature is demonstrated for cancers and adenomas. Furthermore, we demonstrate that pooled RNA from sporadic and chPTC are as strongly correlated as two independent sporadic PTC pools, one from Europe, one from the US involving patients not exposed to Chernobyl radiations. This result relies on cDNA and Affymetrix microarrays. Thus, platform-specific artifacts are controlled for. Our findings suggest the absence of a radiation fingerprint in the chPTC and support the concept that post-Chernobyl cancer data, for which the cancer-causing event and its date are known, are a unique source of information to study naturally occurring papillary carcinomas.}, }
@article {pmid15789487, year = {2005}, author = {Otsubo, S}, title = {Between two worlds: Yamanouchi Shigeo and eugenics in early twentieth-century Japan.}, journal = {Annals of science}, volume = {62}, number = {2}, pages = {205-231}, doi = {10.1080/0003379031000091608}, pmid = {15789487}, issn = {0003-3790}, mesh = {Eugenics/*history ; History, 20th Century ; Japan ; United States ; Western World/*history ; }, abstract = {This paper explores the eugenic through of Yamanouchi Shigeo (1876-1973), who was trained in plant cytology under the tutelage of botanist and eugenicist John Coulter (1851-1928) in the USA, and later become one of the early and important popularizers of eugenic ideas in Japan. His career demonstrates a direct link between Japanese and US eugenics. Despite his academic training and research at various internationally renowned institutions, numerous publications, and longevity, his life has received little scholarly attention. By the early twentieth century, most biologists in Japan, as in the USA, began accepting Mendelian evolutionary theory and rejecting the Lamarckian notion of inheritance of acquire characteristics. However, Yamanouchi Shigeo's eugenic view represents a paradox: he was a mendelian cytologist sympathetic to Lamarckism. Was his 'nurture'-oriented eugenic view unscientific? is that why he was largely ignored in the history of botany in Japan? This study attempts to answer these questions and to analyse the origins and distinct features of Yamanouchi's eugenic ideas by situating Yamanouchi's eugenic through historically and culturally. After examining his scientific papers, popular writings, and documents of various organizations to which he belonged, I argue that Yamanouchi's 'softer' (or less biologically deterministic) perspective may have reflected the Japanese desire to catch up with the dominant 'race' by using eugenics without accepting permanent inferior status.}, }
@article {pmid15776532, year = {2005}, author = {Siris, ES and Ottman, R and Flaster, E and Kelsey, JL}, title = {Familial aggregation of Paget's disease of bone. 1991.}, journal = {Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research}, volume = {20}, number = {3}, pages = {542-547}, doi = {10.1359/jbmr.2005.20.3.541}, pmid = {15776532}, issn = {0884-0431}, mesh = {Adult ; Age Factors ; Aged ; Aged, 80 and over ; Family ; Female ; History, 20th Century ; Humans ; Male ; Middle Aged ; Osteitis Deformans/diagnosis/*epidemiology/*genetics ; Risk Factors ; Surveys and Questionnaires ; }, }
@article {pmid15744032, year = {2005}, author = {Duncan, SR and Scott, S and Duncan, CJ}, title = {Reappraisal of the historical selective pressures for the CCR5-Delta32 mutation.}, journal = {Journal of medical genetics}, volume = {42}, number = {3}, pages = {205-208}, pmid = {15744032}, issn = {1468-6244}, mesh = {Disease Outbreaks/history ; HIV Infections/immunology ; Hemorrhagic Fevers, Viral/epidemiology/genetics/history ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, Medieval ; Immunity, Innate ; *Models, Genetic ; Plague/epidemiology/genetics/history ; Receptors, CCR5/*genetics ; *Selection, Genetic ; *Sequence Deletion ; }, abstract = {HIV strains are unable to enter macrophages that carry the CCR5-Delta32 deletion; the average frequency of this allele is 10% in European populations. A mathematical model based on the changing demography of Europe from 1000 to 1800 AD demonstrates how plague epidemics, 1347 to 1670, could have provided the selection pressure that raised the frequency of the mutation to the level seen today. It is suggested that the original single mutation appeared over 2500 years ago and that persistent epidemics of a haemorrhagic fever that struck at the early classical civilisations served to force up the frequency to about 5x10(-5) at the time of the Black Death in 1347.}, }
@article {pmid15722988, year = {2004}, author = {Conti, AA and Lippi, D and Gensini, GF}, title = {Obesity and nutritional behavior within a historical perspective.}, journal = {Minerva gastroenterologica e dietologica}, volume = {50}, number = {2}, pages = {171-177}, pmid = {15722988}, issn = {1121-421X}, mesh = {Adolescent ; Adult ; Aged ; Body Mass Index ; Child ; Diagnosis, Differential ; *Diet ; Esthetics ; *Evidence-Based Medicine ; Female ; Greece, Ancient ; History, Ancient ; Humans ; Incidence ; Male ; Obesity/diagnosis/*epidemiology/*history/therapy ; *Overnutrition ; Prevalence ; Research ; Rome ; Socioeconomic Factors ; }, abstract = {Obesity is an ever increasing pathological condition in Western countries. Genetic, metabolic, social and cultural factors play different roles in the varying pictures of obesity, together with nutritional behavior. This research proposes to formulate a comparison through the literary sources of the classical world, so as to determine the modalities with which obesity and nutritional habits have been perceived in the past. In Greek and Roman art, obesity often assumed the characteristics of caricature and of satire, confirmed by the elaboration of the stereotype of the sponger. Obesity generated irony and sarcasm; meanwhile the figure of the tyrant too was modelled on the physical type of the obesus, in whom the vice both of alimentary and sexual excess was concentrated. The evaluation of obesity, in the course of the time, has seen alternate phases, that propose different physical models and elaborate different aesthetical canons, but always closely related to a strong social factor as a distinctive sign: opulence. Nowadays obesity is seen, on the contrary, as an ever increasing nutritional disorder, both in prevalence and in incidence, and, to the ideal of the fat subject, very recent years have progressively substituted a different aesthetic typology, also because hyperalimentation has been qualified as a concomitant cause for a number of degenerative disorders.}, }
@article {pmid15682554, year = {2004}, author = {Waters, CK}, title = {What was classical genetics?.}, journal = {Studies in history and philosophy of science}, volume = {35}, number = {4}, pages = {783-809}, doi = {10.1016/j.shpsa.2004.03.018}, pmid = {15682554}, issn = {0039-3681}, mesh = {Genetics/*history ; *Historiography ; History, 19th Century ; History, 20th Century ; Philosophy, Medical/*history ; United States ; }, abstract = {I present an account of classical genetics to challenge theory-biased approaches in the philosophy of science. Philosophers typically assume that scientific knowledge is ultimately structured by explanatory reasoning and that research programs in well-established sciences are organized around efforts to fill out a central theory and extend its explanatory range. In the case of classical genetics, philosophers assume that the knowledge was structured by T. H. Morgan's theory of transmission and that research throughout the later 1920s, 30s, and 40s was organized around efforts to further validate, develop, and extend this theory, I show that classical genetics was structured by an integration of explanatory reasoning (associated with the transmission theory) and investigative strategies (such as the 'genetic approach'). The investigative strategies, which have been overlooked in historical and philosophical accounts, were as important as the so-called laws of Mendelian genetics. By the later 1920s, geneticists of the Morgan school were no longer organizing research around the goal of explaining inheritance patterns; rather, they were using genetics to investigate a range of biological phenomena that extended well beyond the explanatory domain of transmission theories. Theory-biased approaches in history and philosophy of science fail to reveal the overall structure of scientific knowledge and obscure the way it functions.}, }
@article {pmid20503758, year = {2005}, author = {Doel, RE and Hoffmann, D and Krementsov, N}, title = {National states and international science: A comparative history of international science congresses in Hitler's Germany, Stalin's Russia, and cold war United States.}, journal = {Osiris}, volume = {20}, number = {}, pages = {49-76}, doi = {10.1086/649413}, pmid = {20503758}, issn = {0369-7827}, mesh = {Congresses as Topic/*history ; Germany ; History, 20th Century ; Internationality/history ; Political Systems/*history ; Science/*history ; USSR ; United States ; }, abstract = {Prior studies of modern scientific internationalism have been written primarily from the point of view of scientists, with little regard to the influence of the state. This study examines the state's role in international scientific relations. States sometimes encouraged scientific internationalism; in the mid-twentieth century, they often sought to restrict it. The present study examines state involvement in international scientific congresses, the primary intersection between the national and international dimensions of scientists' activities. Here we examine three comparative instances in which such restrictions affected scientific internationalism: an attempt to bring an international aerodynamics congress to Nazi Germany in the late 1930s, unsuccessful efforts by Soviet geneticists to host the Seventh International Genetics Congress in Moscow in 1937, and efforts by U.S. scientists to host international meetings in 1950s cold war America. These case studies challenge the classical ideology of scientific internationalism, wherein participation by a nation in a scientist's fame spares the scientist conflict between advancing his science and advancing the interests of his nation. In the cases we consider, scientists found it difficult to simultaneously support scientific universalism and elitist practices. Interest in these congresses reached the top levels of the state, and access to patronage beyond state control helped determine their outcomes.}, }
@article {pmid15621526, year = {2005}, author = {Stern, CD}, title = {The chick; a great model system becomes even greater.}, journal = {Developmental cell}, volume = {8}, number = {1}, pages = {9-17}, doi = {10.1016/j.devcel.2004.11.018}, pmid = {15621526}, issn = {1534-5807}, mesh = {Animals ; Animals, Genetically Modified/physiology ; Chick Embryo ; *Chickens ; Developmental Biology/history/trends ; Genetic Techniques/trends ; Genome ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Information Services/supply &amp; distribution ; *Models, Animal ; }, abstract = {The chick embryo has a long and distinguished history as a major model system in developmental biology and has also contributed major concepts to immunology, genetics, virology, cancer, and cell biology. Now, it has become even more powerful thanks to several new technologies: in vivo electroporation (allowing gain- and loss-of-function in vivo in a time- and space-controlled way), embryonic stem (ES) cells, novel methods for transgenesis, and the completion of the first draft of the sequence of its genome along with many new resources to access this information. In combination with classical techniques such as grafting and lineage tracing, the chicken is now one of the most versatile experimental systems available.}, }
@article {pmid15609448, year = {2005}, author = {Wagner, R and Meselson, M}, title = {Repair tracts in mismatched DNA heteroduplexes. 1976.}, journal = {DNA repair}, volume = {4}, number = {1}, pages = {126-30; discussion 103-4, 131}, pmid = {15609448}, issn = {1568-7864}, mesh = {Base Pair Mismatch/*genetics ; *DNA Repair ; Escherichia coli/genetics ; Genetics/*history ; History, 20th Century ; Nucleic Acid Heteroduplexes/*genetics ; Transfection ; }, }
@article {pmid15608066, year = {2004}, author = {Hanawalt, PC}, title = {Density matters: the semiconservative replication of DNA.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {101}, number = {52}, pages = {17889-17894}, pmid = {15608066}, issn = {0027-8424}, mesh = {Biophysics/*history ; DNA/*chemistry ; DNA Repair ; *DNA Replication ; Genetics/*history ; History, 20th Century ; Recombination, Genetic ; United States ; }, abstract = {The semiconservative mode of DNA replication was originally documented through the classic density labeling experiments of Matthew Meselson and Franklin W. Stahl, as communicated to PNAS by Max Delbruck in May 1958. The ultimate value of their novel approach has extended far beyond the initial implications from that elegant study, through more than four decades of research on DNA replication, recombination, and repair. I provide here a short historical commentary and then an account of some developments in the field of DNA replication, which closely followed the Meselson-Stahl experiment. These developments include the application of density labeling to discover the repair replication of damaged DNA, a "nonconservative" mode of synthesis in which faulty sections of DNA are replaced.}, }
@article {pmid15595973, year = {2004}, author = {Grant, DM and Tang, BK and Kalow, W}, title = {A simple test for acetylator phenotype using caffeine. 1984.}, journal = {British journal of clinical pharmacology}, volume = {58}, number = {7}, pages = {S788-93; discussion S794-5}, doi = {10.1111/j.1365-2125.2004.02297.x}, pmid = {15595973}, issn = {0306-5251}, mesh = {*Acetylation ; Caffeine/*history/metabolism ; History, 20th Century ; Humans ; Polymorphism, Genetic ; }, }
@article {pmid15595262, year = {2004}, author = {Ross, RT and Simpson, CA and Styles, S}, title = {Wolfhart Kugelberg Welander syndrome. 1974.}, journal = {The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques}, volume = {31}, number = {4}, pages = {530-538}, pmid = {15595262}, issn = {0317-1671}, mesh = {Dermatoglyphics/history ; Electromyography ; Genes, Recessive ; History, 20th Century ; Humans ; Karyotyping ; Motor Neurons ; Muscles/physiopathology ; Muscular Atrophy, Spinal/genetics/*history ; Pedigree ; Sex Chromosome Aberrations ; Syndrome ; }, }
@article {pmid15579391, year = {2005}, author = {Gongora, J and Moran, C}, title = {Nuclear and mitochondrial evolutionary analyses of Collared, White-lipped, and Chacoan peccaries (Tayassuidae).}, journal = {Molecular phylogenetics and evolution}, volume = {34}, number = {1}, pages = {181-189}, doi = {10.1016/j.ympev.2004.08.021}, pmid = {15579391}, issn = {1055-7903}, mesh = {Animals ; Artiodactyla/*genetics ; Cell Nucleus/*genetics ; *Evolution, Molecular ; Locus Control Region/genetics ; Mitochondria/*genetics ; Natural History ; }, abstract = {The three extant peccary species, the Chacoan (Catagonus wagneri), the White-lipped (Tayassu pecari) and the Collared (Pecari tajacu), are morphologically and chromosomally distinct and confined to the New World. There is ongoing paleontological, cytogenetic, and molecular debate about phylogenetic relationships among them. To contribute to the understanding of Tayassuidae phylogeny, three mitochondrial (control region, cytochrome b, and 12S rRNA) and five nuclear (K-casein, thyrotropin, tyrosinase, and swine short interspersed nuclear elements PRE-1 P27 and P642) peccary DNA fragments were amplified, cloned and sequenced from Chacoan, White-lipped, and Collared peccaries. Phylogenetic analyses were performed using maximum likelihood and neighbor joining methods. K-casein, thyrotropin, and tyrosinase sequences did not resolve the phylogeny, while control region, cytochrome b, 12S rRNA, and PRE-1 P27 and P642 sequences were more informative in deciphering phylogenetic relationships. When pig and warthog were used as an outgroup, Chacoan and White-lipped peccaries clustered distinct from Collared peccaries. Furthermore, control region and cytochrome b sequence variation within Collared peccaries was as extreme as that between White-lipped and Chacoan peccaries, supporting subspecific and possibly even specific variation within the widely distributed Collared peccary. This study supports the existence of two independent genera within the Tayassuidae family consisting of Collared and Chacoan/White-lipped peccaries, in contrast with classical morphological taxonomy which clusters White-lipped and Collared peccaries in the genus Tayassu or which alternatively clusters the Collared peccary in the genus Dicotyles as a related sister clade of the Chacoan peccary (genus Catagonus).}, }
@article {pmid15573126, year = {2004}, author = {Singer, M and Berg, P}, title = {George Beadle: from genes to proteins.}, journal = {Nature reviews. Genetics}, volume = {5}, number = {12}, pages = {949-954}, doi = {10.1038/nrg1494}, pmid = {15573126}, issn = {1471-0056}, mesh = {Animals ; Chicago ; Drosophila melanogaster/genetics ; History, 20th Century ; Molecular Biology/*history ; United States ; Universities/history ; }, abstract = {George W. Beadle's life spanned much of the period during which genetics changed from an abstract to a molecular science. Beadle himself catalysed the transition from classical to molecular genetics when, together with Edward Tatum, he discovered that each gene is linked to the production of a protein. This article traces his life from a modest farm to the centre of biology and a principal role in the development of the scientific enterprise.}, }
@article {pmid15557138, year = {2004}, author = {Early, P and Huang, H and Davis, M and Calame, K and Hood, L}, title = {An immunoglobulin heavy chain variable region gene is generated from three segments of DNA: VH, D and JH. 1980.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {173}, number = {11}, pages = {6503-6514}, pmid = {15557138}, issn = {0022-1767}, mesh = {Amino Acid Sequence ; Animals ; Antibody Diversity/*genetics ; Base Sequence ; DNA/genetics/*history ; *Gene Rearrangement, B-Lymphocyte, Heavy Chain ; History, 20th Century ; Immunoglobulin Heavy Chains/genetics/*history ; Immunoglobulin J-Chains/genetics/*history ; Immunoglobulin Variable Region/genetics/*history ; Molecular Sequence Data ; }, }
@article {pmid15536254, year = {2004}, author = {Dobzhansky, T and Schultz, J}, title = {The distribution of sex-factors in the X-chromosome of Drosophila melanogaster. 1934.}, journal = {Journal of genetics}, volume = {83}, number = {2}, pages = {125-162}, pmid = {15536254}, issn = {0022-1333}, mesh = {Animals ; Drosophila melanogaster/*genetics ; Female ; Gene Duplication ; History, 20th Century ; Male ; Sex Determination Processes ; Translocation, Genetic ; X Chromosome/genetics ; }, }
@article {pmid15533843, year = {2005}, author = {Lu, AL and Clark, S and Modrich, P}, title = {Methyl-directed repair of DNA base-pair mismatches in vitro. 1983.}, journal = {DNA repair}, volume = {4}, number = {1}, pages = {134-8; discussion 133, 139}, doi = {10.1016/j.dnarep.2004.07.003}, pmid = {15533843}, issn = {1568-7864}, mesh = {Base Pair Mismatch/*genetics ; *DNA Methylation ; *DNA Repair ; Escherichia coli/genetics ; Genetics/*history ; History, 20th Century ; Nucleic Acid Heteroduplexes/genetics ; }, }
@article {pmid15533842, year = {2005}, author = {Ephrussi-Taylor, H and Gray, TC}, title = {Genetic studies of recombining DNA in pneumococcal transformation. 1966.}, journal = {DNA repair}, volume = {4}, number = {1}, pages = {105-125; discussion 103-4, 131}, doi = {10.1016/j.dnarep.2004.07.002}, pmid = {15533842}, issn = {1568-7864}, mesh = {Bacterial Proteins/genetics ; Carrier Proteins/genetics ; DNA Repair/*genetics ; Genetics/*history ; History, 20th Century ; Lipoproteins/genetics ; Streptococcus pneumoniae/*genetics ; Transformation, Bacterial/*genetics ; }, }
@article {pmid15506718, year = {2004}, author = {Pichot, P}, title = {[Circular insanity, 150 years on].}, journal = {Bulletin de l'Academie nationale de medecine}, volume = {188}, number = {2}, pages = {275-284}, pmid = {15506718}, issn = {0001-4079}, mesh = {Bipolar Disorder/*history ; France ; History, 19th Century ; History, 20th Century ; Humans ; Terminology as Topic ; }, abstract = {On January 31 1854, Jules Baillarger delivered a lecture to the French Imperial Academy of Medicine describing a new variety of insanity, "la folie à double forme", whose main feature was the occurrence of both manic and depressive episodes in the same patient. Immediately his colleague Jean-Pierre Falret pointed out that he had already published a description of the same disorder, that he had named "folie circulaire" and, on February 14, presented a lecture on the subject to the Academy. Baillarger accused him of plagiarism, contending that Falret had used the two weeks between the two lectures to attribute the main characteristics of la folie à double forme to his folie circulaire, whose description now bore little relation to the (very short) previous report that Falret had evoked as proof of his priority. Falret subsequently showed great restraint in the controversy, while Baillarger reiterated and extended his accusations until his death. An objective study of the printed material not only establishes Falret's clear priority, but also demonstrates that Baillarger's accusations of plagiarism are unfounded, as the descriptions of la folie circulaire and la folie à double forme differ on many important points, the first being much closer than the second to our present conceptions. Falret's discovery is thus a landmark in the nosology of mental disorders. Contrary to the then-widespread belief in the existence of a single entity--" mental alienation"--with several symptomatic manifestations, Falret affirmed that, in psychiatry as in the rest of medicine, separate disease entities existed. While their etiology was still unknown, they could be distinguished by their syndromic expressions and their outcome; on this basis, Falret considered that la folie circulaire was, together with general paralysis, the only true mental disorder so far identified. His principles were subsequently adopted by Kraepelin, whose main nosological concepts, established around 1900, are still in use today. Kraepelin attributed most psychotic manifestations to two diseases, namely dementia praecox (later renamed schizophrenia) and manic-depressive psychosis; the two differed mainly by the progression of the former to a final state of mental deterioration. Falret's folie circulaire was incorporated in the second disease, as one of its many symptomatic forms. It regained its autonomy only in 1966 when Angst and Perris demonstrated the specificity of its heredity and named it bipolar disorder. Recent studies suggest that the boundaries of this disorder extend far beyond those of its classical description. The so-called bipolar spectrum now includes, on the basis of clinical, biological, genetic and therapeutic arguments, the manic and hypomanic, and even purely depressive manifestations of mood disorder. One hundred and fifty years after its inception, Falret's concept of folie circulaire has become one of the main focuses of psychiatric research.}, }
@article {pmid15503344, year = {2005}, author = {Moraga, M and Santoro, CM and Standen, VG and Carvallo, P and Rothhammer, F}, title = {Microevolution in prehistoric Andean populations: chronologic mtDNA variation in the desert valleys of northern Chile.}, journal = {American journal of physical anthropology}, volume = {127}, number = {2}, pages = {170-181}, doi = {10.1002/ajpa.10438}, pmid = {15503344}, issn = {0002-9483}, mesh = {Base Sequence ; Cephalometry ; Chile ; Cluster Analysis ; *Cultural Evolution ; DNA, Mitochondrial/*genetics/*history ; *Evolution, Molecular ; *Fossils ; Gene Frequency ; *Genetic Variation ; *Genetics, Population ; Geography ; Haplotypes/genetics ; History, Ancient ; Humans ; Molecular Sequence Data ; Sequence Alignment ; Sequence Analysis, DNA ; }, abstract = {Archeological evidence suggests that the iconographic and technological developments that took place in the highlands around Lake Titicaca in the Central Andean region had an influence on the cultural elaborations of the human groups in the valleys and the Pacific coast of northern Chile. In a previous communication, we were able to show, by means of a distance analysis, that a craniofacial differentiation accompanied the process of cultural evolution in the valleys (Rothhammer and Santoro [2001] Lat. Am. Antiq. 12:59-66). Recently, numerous South Amerindian mtDNA studies were published, and more accurate molecular techniques to study ancient mtDNA are available. In view of these recent developments, we decided 1) to study chronological changes of ancient mtDNA haplogroup frequencies in the nearby Lluta, Azapa, and Camarones Valleys, 2) to identify microevolutionary forces responsible for such changes, and 3) to compare ancient mtDNA haplogroup frequencies with previous data in order to validate craniometrical results and to reconstruct the biological history of the prehistoric valley groups in the context of their interaction with culturally more developed highland populations. From a total of 97 samples from 83 individuals, 68 samples (61 individuals) yielded amplifications for the fragments that harbor classical mtDNA markers. The haplogroup distribution among the total sample was as follows: 26.2%, haplogroup A; 34.4%, haplogroup B; 14.8%, haplogroup C; 3.3%, haplogroup D; and 21.3%, other haplogroups. Haplogroup B tended to increase, and haplogroup A to decrease during a 3,900-year time interval. The sequence data are congruent with the haplogroup analysis. In fact, the sequencing of hypervariable region I of 30 prehistoric individuals revealed 43 polymorphic sites. Sequence alignment and subsequent phylogenetic tree construction showed two major clusters associated with the most common restriction haplogroups. Individuals belonging to haplogroups C and D tended to cluster together with nonclassical lineages.}, }
@article {pmid15383553, year = {2004}, author = {Hozumi, N and Tonegawa, S}, title = {Evidence for somatic rearrangement of immunoglobulin genes coding for variable and constant regions. 1976 [classical article].}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {173}, number = {7}, pages = {4260-4264}, pmid = {15383553}, issn = {0022-1767}, mesh = {Animals ; Antibody Diversity/*genetics ; Cell Line, Tumor ; *Gene Rearrangement, B-Lymphocyte ; *Genes, Immunoglobulin ; Germ-Line Mutation ; History, 20th Century ; Immunoglobulin Constant Regions/genetics/*history ; Immunoglobulin Variable Region/genetics/*history ; Immunoglobulin kappa-Chains/genetics/*history ; Mice ; Mice, Inbred BALB C ; }, }
@article {pmid15372536, year = {2004}, author = {Albers, JW and Fink, JK}, title = {Porphyric neuropathy.}, journal = {Muscle &amp; nerve}, volume = {30}, number = {4}, pages = {410-422}, doi = {10.1002/mus.20137}, pmid = {15372536}, issn = {0148-639X}, mesh = {Animals ; Electrophysiology ; History, 19th Century ; History, 20th Century ; Humans ; Peripheral Nervous System Diseases/classification/*etiology/genetics/*pathology/*therapy ; Porphyrias, Hepatic/classification/*complications/genetics/*pathology/*therapy ; Porphyrins/metabolism ; }, abstract = {The hepatic porphyrias are a group of rare metabolic disorders characterized by enzymatic defects in the biosynthesis of heme, a metalloporphyrin that is the principal product of porphyrin metabolism. The hepatic porphyrias are genetically transmitted as autosomal-dominant disorders with variable expression that produce a particularly severe form of neuropathy. Most medical students readily recognize acute attacks of porphyria when the classic triad of abdominal pain, psychosis, and neuropathy is present. Yet, porphyric neuropathy is a source of confusion in practice, and patients with porphyria rarely receive the correct diagnosis early in the course of the illness. Porphyric neuropathy is manifest by symptoms, signs, and cerebrospinal fluid abnormalities resembling acute Guillain-Barré syndrome. However, accompanying psychological features, a proximal predilection of asymmetric weakness, and electrodiagnostic findings indicative of an axonal polyradiculopathy or neuronopathy all suggest the diagnosis of porphyria. Confirmation of the diagnosis depends on use of appropriate laboratory studies. The underlying pathophysiology of porphyric neuropathy has not been established, but it may be related to direct neurotoxicity of elevated levels of delta-aminolevulinic acid. The severity of the neuropathy and the availability of potential treatments, including avoidance of provocative factors, make identification important.}, }
@article {pmid15369635, year = {2003}, author = {Hardy, GH}, title = {Mendelian proportions in a mixed population. 1908.}, journal = {The Yale journal of biology and medicine}, volume = {76}, number = {2}, pages = {79-80}, pmid = {15369635}, issn = {1551-4056}, mesh = {Female ; Genetics, Population/*history ; History, 20th Century ; Humans ; Male ; Models, Genetic ; Population Density ; Reproduction ; }, }
@article {pmid15344228, year = {2004}, author = {Cleaver, JE}, title = {Defective repair replication of DNA in xeroderma pigmentosum. 1968.}, journal = {DNA repair}, volume = {3}, number = {2}, pages = {183-187}, pmid = {15344228}, issn = {1568-7864}, mesh = {*DNA Repair ; *DNA Replication ; DNA, Neoplasm/radiation effects ; Genetics/history ; History, 20th Century ; Humans ; Skin Neoplasms/genetics/*history ; Sunlight/adverse effects ; Xeroderma Pigmentosum/genetics/*history ; }, abstract = {Most forms of the human hereditary disease xeroderma pigmentation (XP) are due to a defect in nucleotide excision repair of DNA damage in skin cells associated with exposure to sunlight. This discovery by James Cleaver had an important impact on our understanding of nucleotide excision repair in mammals.}, }
@article {pmid15338568, year = {2004}, author = {Setlow, RB and Regan, JD and German, J and Carrier, WL}, title = {Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA. 1969.}, journal = {DNA repair}, volume = {3}, number = {2}, pages = {188-195}, pmid = {15338568}, issn = {1568-7864}, mesh = {*DNA Repair ; *DNA Replication ; DNA, Neoplasm/*radiation effects ; Genetics/history ; History, 20th Century ; Humans ; Skin Neoplasms/genetics/*history ; Sunlight/*adverse effects ; Xeroderma Pigmentosum/genetics/*history ; }, abstract = {Xeroderma pigmentosum (XP) is a recessively transmitted disorder of man characterized by increased sensitivity to ultraviolet light. Homozygous, affected individuals, upon exposure to sunlight, sustain severe damage to the skin; this damage is characteristically followed by multiple basal and squamous cell carcinomas and not uncommonly by other malignant neoplasia. A tissue culture cell line was derived from the skin of a man with XP. Our measurements of ultraviolet-induced pyrimidine dimers in cellular DNA show that normal diploid human skin fibroblasts excise up to 70 per cent of the dimers 24 hours, but that fibroblasts derived from the individual with XP excise less than 20 per cent in 48 hours. Alkaline gradient sedimentation experiments show that during the 24 hours after irradiation of normal cells a large number of single-stranded breaks appear and then disappear. Such changes are not observed in XP cells. XP cells apparently fail to start, the excision process because they lack the required function of an ultraviolet-specific endonuclease. These findings, plus earlier ones of Cleaver on the lack of repair replication in XP cells, raise the possibility that unexcised pyrimidine dimers can be implicated in the oncogenicity of ultraviolet radiation.}, }
@article {pmid15315803, year = {2004}, author = {Hughes, DT}, title = {The role of chromosomes in the characterisation of human neoplasms. 1965.}, journal = {European journal of cancer (Oxford, England : 1990)}, volume = {40}, number = {13}, pages = {1951-1959}, doi = {10.1016/j.ejca.2004.06.008}, pmid = {15315803}, issn = {0959-8049}, mesh = {Aneuploidy ; Cell Transformation, Neoplastic ; Chromosomes, Human/*genetics ; Genetic Predisposition to Disease ; History, 20th Century ; Humans ; Karyotyping ; Neoplasms/genetics/*history ; }, }
@article {pmid15315801, year = {2004}, author = {Sandritter, W}, title = {DNA content of tumours: cytophotometric measurements. 1965.}, journal = {European journal of cancer (Oxford, England : 1990)}, volume = {40}, number = {13}, pages = {1941-1944}, doi = {10.1016/j.ejca.2004.04.012}, pmid = {15315801}, issn = {0959-8049}, mesh = {Cytophotometry/history ; DNA, Neoplasm/analysis/*history ; Female ; History, 20th Century ; Humans ; Uterine Cervical Neoplasms/genetics/*history ; }, }
@article {pmid15272456, year = {2003}, author = {Boyce, RP and Howard-Flanders, P}, title = {Release of ultraviolet light-induced thymine dimers from DNA in E. coli K-12. 1964.}, journal = {DNA repair}, volume = {2}, number = {11}, pages = {1280-1287}, pmid = {15272456}, issn = {1568-7864}, mesh = {*DNA Repair ; DNA, Bacterial/radiation effects ; Escherichia coli/genetics ; Genetics/*history ; History, 20th Century ; Pyrimidine Dimers ; Ultraviolet Rays ; }, }
@article {pmid15272455, year = {2003}, author = {Setlow, RB and Carrier, WL}, title = {The disappearance of thymine dimers from DNA: an error-correcting mechanism. 1963.}, journal = {DNA repair}, volume = {2}, number = {11}, pages = {1274-1279}, pmid = {15272455}, issn = {1568-7864}, mesh = {*DNA Repair ; Genetics/*history ; History, 20th Century ; Pyrimidine Dimers ; }, }
@article {pmid15265875, year = {2004}, author = {McDevitt, HO and Chinitz, A}, title = {Genetic control of the antibody responses: relationship between immune response and histocompatibility (H-2) type. 1969.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {173}, number = {3}, pages = {1500-1501}, pmid = {15265875}, issn = {0022-1767}, mesh = {Animals ; Antibody Formation/*genetics ; Genotype ; H-2 Antigens/genetics/*history/immunology ; History, 20th Century ; Mice ; Mice, Inbred Strains ; }, }
@article {pmid15240905, year = {2004}, author = {Robertson, FW}, title = {Studies in quantitative inheritance. XI. Genetic and environmental correlation between body size and egg production in Drosophila melanogaster. 1957.}, journal = {Journal of genetics}, volume = {83}, number = {1}, pages = {17-32}, pmid = {15240905}, issn = {0022-1333}, mesh = {Genetics/*history ; History, 20th Century ; }, }
@article {pmid15224553, year = {2004}, author = {Morand, JJ}, title = {[Acquired and hereditary syphilis] 1946 [classical article].}, journal = {Medecine tropicale : revue du Corps de sante colonial}, volume = {64}, number = {1}, pages = {26-27}, pmid = {15224553}, issn = {0025-682X}, mesh = {Antimalarials/therapeutic use ; History, 20th Century ; Humans ; Penicillins/*therapeutic use ; Potassium Compounds/therapeutic use ; Syphilis/*drug therapy/*genetics/history ; }, }
@article {pmid15220184, year = {2004}, author = {Accili, D}, title = {Lilly lecture 2003: the struggle for mastery in insulin action: from triumvirate to republic.}, journal = {Diabetes}, volume = {53}, number = {7}, pages = {1633-1642}, doi = {10.2337/diabetes.53.7.1633}, pmid = {15220184}, issn = {0012-1797}, mesh = {Animals ; Cell Division ; Diabetes Mellitus, Type 2/etiology/genetics ; Forkhead Box Protein O1 ; Forkhead Transcription Factors ; Genetic Predisposition to Disease ; Glucose/metabolism ; Humans ; Insulin/*physiology ; Insulin Resistance/genetics ; Islets of Langerhans/cytology/metabolism ; Liver/physiology ; Metaphor ; Muscle, Skeletal/metabolism ; Pancreatic Ducts/cytology ; Signal Transduction ; Transcription Factors/metabolism ; Transcription, Genetic ; }, abstract = {Type 2 diabetes arises from a combination of impaired insulin action and defective pancreatic beta-cell function. Classically, the two abnormalities have been viewed as distinct yet mutually detrimental processes. The combination of impaired insulin-dependent glucose metabolism in skeletal muscle and impaired beta-cell function causes an increase of hepatic glucose production, leading to a constellation of tissue abnormalities that has been referred to as the diabetes "ruling triumvirate." Targeted mutagenesis in mice has led to a critical reappraisal of the integrated physiology of insulin action. These studies indicate that insulin resistance in skeletal muscle and adipose tissue does not necessarily lead to hyperglycemia, so long as insulin sensitivity in other tissues is preserved. Additional data suggest a direct role of insulin signaling in beta-cell function and regulation of beta-cell mass, thus raising the possibility that insulin resistance may be the overarching feature of diabetes in all target tissues. I propose that we replace the original picture of a ruling triumvirate with that of a squabbling republic in which every tissue contributes to the onset of the disease.}, }
@article {pmid15214055, year = {2004}, author = {Mascie-Taylor, CG and Little, MA}, title = {History of migration studies in biological anthropology.}, journal = {American journal of human biology : the official journal of the Human Biology Council}, volume = {16}, number = {4}, pages = {365-378}, doi = {10.1002/ajhb.20046}, pmid = {15214055}, issn = {1042-0533}, mesh = {Adaptation, Physiological ; Anthropology, Physical/*history ; Anthropometry/history ; Emigration and Immigration/*history ; Female ; Genetics, Population/history ; Global Health ; Health Status ; History, 20th Century ; Humans ; Male ; }, abstract = {The earliest studies of human biological factors in migration in which a clear research design was employed date back to the early 20th century in the United States. Maurice Fishberg's study of Jewish migrants, published in 1905, antedated the classic study of Franz Boas initiated in 1908. There have been two main approaches. The first approach examined the impact of migration in relation to changing environment and the importance of environmental plasticity. For example, Fishberg reported that migrants had offspring different in stature from themselves and with differences thought to be due to improvements in the environment, although some selection of genetically determined traits was suggested. Subsequently, a number of research designs have been used, ranging from Boas's simple design of sedente (nonmigrant) adults and children compared with first- and second-generation migrants; Shapiro's extension of this study in Japanese migrants to Hawai'i; Goldstein's four-fold comparison of Mexican sedentes and their offspring in Mexico, and migrants to the USA and their offspring in the USA; and Lasker's extension of Goldstein's Mexican study by including comparison of sedentes with returning emigrants. More sophisticated designs were used by Harrison and Baker in examining altitude effects and changes in subsistence and lifestyle during the 1960s through to the 1980s. The second approach has focused on the effect of migration on gene flow. For example, the clinal variation of ABO blood groups in Europe and Australia is generally purported to result from past migration, although increasing random migration for blood groups is likely to eliminate clinal variation. Migration has usually been considered from a spatial (geographic) perspective, but more recent studies have also investigated the impact of social or occupational movement (social mobility) alone, or in combination with geographic migration, and tested whether such movements are selective or random for a number of biological traits.}, }
@article {pmid15177764, year = {2004}, author = {Poser, CM and Brinar, VV}, title = {The nature of multiple sclerosis.}, journal = {Clinical neurology and neurosurgery}, volume = {106}, number = {3}, pages = {159-171}, doi = {10.1016/j.clineuro.2004.02.005}, pmid = {15177764}, issn = {0303-8467}, mesh = {Brain/*pathology ; Diagnosis, Differential ; Diffuse Cerebral Sclerosis of Schilder/diagnosis/history ; Disease Progression ; Encephalomyelitis, Acute Disseminated/diagnosis ; France ; Germany ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Hungary ; Japan ; Magnetic Resonance Imaging ; Multiple Sclerosis/classification/*diagnosis/*history ; Neurology/*history ; Neuromyelitis Optica/diagnosis/history ; Terminology as Topic ; }, abstract = {Multiple sclerosis (MS) has recently been classified according to its clinical course. Despite relapses and remissions, its course is invariably progressive, and the observed progression from the remitting-relapsing to the secondary progressive form represents the accumulation of permanent damage to the nervous system. Discussions of the nomenclatural position of Schilder's, Marburg's, and Baló's diseases, ignore the fact that the unique, pathognomonic, sharp-edged plaque of MS, is also the pathologic end-result in the three variants. Devic's disease or neuromyelitis optica (NMO) is quite different and with some exceptions, is a particular form of disseminated encephalomyelitis (DEM). There is no evidence that the 'oriental form of MS' is anything but NMO. The suggestion that MS and DEM are variants of the same condition is contradicted by the fact that the pathological characteristics of the two are quite different. While it is probable that the two share aspects of pathogenesis, the patients differ because of their genetic endowment. This was dramatically demonstrated in a group of Japanese patients who died after anti-rabies vaccination and were found to have the typical sharp-edged lesions of MS. The genetic determinant was also crucial in the marmoset in which EAE uniquely resulted in a chronic relapsing-remitting (RR) disease characterized by the classic sharp-edged lesions of MS. The question 'ADEM: distinct disease or part of the MS spectrum?' can be answered with a resounding no. A new classification is proposed separating the different forms of MS from the various types of DEM.}, }
@article {pmid15168677, year = {1998}, author = {Otsubo, S and Bartholomew, JR}, title = {Eugenics in Japan: some ironies of modernity, 1883-1945.}, journal = {Science in context}, volume = {11}, number = {3-4}, pages = {545-565}, pmid = {15168677}, issn = {0269-8897}, mesh = {Asian People/ethnology ; Education/history ; Eugenics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Japan ; Public Policy ; Societies/history ; }, abstract = {Japanese eugenic discourse and institution building contrast sharply with comparable movements elsewhere. As a social-intellectual phenomenon, Anglo-American eugenics considered the Japanese racially inferior to Western peoples; yet eugenic ideals and policies achieved a remarkable popularity in Japan. Most of mainstream Japanese genetics was derived from orthodox Mendelian roots in Germany and (to a lesser degree) the United States. But French-style Lamarckian notions of the inheritability of acquired characters held surprising popularity among enthusiasts of eugenics. Japanese eugenicists could condemn the actions of foreign eugenicists like Charles Davenport in the United States for their efforts to forbid Japanese immigration in the 1920s, yet appeal to these same eugenicists as a source of legitimacy in Japan. These paradoxes can partly be explained against a background of relative isolation in a period of profound social change. Few Japanese eugenicists had close personal contact with foreign eugenicists, and most of their knowledge was acquired through reading rather than direct exposure. The eugenic ideal of ethnic purity was attractive to a society long accustomed to monoracial self-imagery. The need to defend national independence in an era of high imperialism seemed to require the most up-to-date policies and ideas. And Japan's own acquisition of an overseas empire seemed to demand a population management philosophy ostensibly based on scientific principles. These and other forces supported the implementation of eugenic policies and prescriptions among the Japanese people in the first half of the twentieth century.}, }
@article {pmid15168670, year = {1998}, author = {Holtzman, NA}, title = {Eugenics and genetic testing.}, journal = {Science in context}, volume = {11}, number = {3-4}, pages = {397-417}, doi = {10.1017/s0269889700003100}, pmid = {15168670}, issn = {0269-8897}, support = {R01-HG-00026/HG/NHGRI NIH HHS/United States ; }, mesh = {Abortion, Eugenic ; Coercion ; Directive Counseling ; *Eugenics/methods ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Diseases, Inborn/prevention &amp; control ; Genetic Predisposition to Disease ; *Genetic Testing ; Humans ; Mandatory Programs ; Personal Autonomy ; *Prenatal Diagnosis ; Voluntary Programs ; }, abstract = {Pressures to lower health-care costs remain an important stimulus to eugenic approaches. Prenatal diagnosis followed by abortion of affected fetuses has replaced sterilization as the major eugenic technique. Voluntary acceptance has replaced coercion, but subtle pressures undermine personal autonomy. The failure of the old eugenics to accurately predict who will have affected offspring virtually disappears when prenatal diagnosis is used to predict Mendelian disorders. However, when prenatal diagnosis is used to detect inherited susceptibilities to adult-onset, common, complex disorders, considerable uncertainty is inherent in the prediction. Intolerance and the resurgence of genetic determinism are current pressures for a eugenic approach. The increasing use of carrier screening (to identify those at risk of having affected offspring) and of prenatal diagnosis could itself generate intolerance for those who refuse the procedures. Genetic determinism deflects society from social action that would reduce the burden of disease far more than even the maximum use of eugenics.}, }
@article {pmid15168668, year = {1998}, author = {Templeton, AR}, title = {The complexity of the genotype-phenotype relationship and the limitations of using genetic "markers" at the individual level.}, journal = {Science in context}, volume = {11}, number = {3-4}, pages = {373-389}, doi = {10.1017/s0269889700003082}, pmid = {15168668}, issn = {0269-8897}, mesh = {Alzheimer Disease/etiology/genetics ; Apolipoproteins E/genetics ; Coronary Artery Disease/etiology/genetics ; Environment ; *Eugenics ; Genetic Diseases, Inborn/*etiology/*genetics ; *Genetic Markers ; *Genetic Predisposition to Disease ; *Genetic Research ; Genetic Variation ; *Genotype ; Humans ; *Phenotype ; Reproducibility of Results ; }, abstract = {Many associations have recently been discovered between phenotypic variation and genetic loci, causing some to advocate what Robert Sinsheimer has called "a new eugenics" that would treat genetic "defects" in individuals prone to a disease. The first premise of this vision is that genetic association studies reveal the biological cause of the phenotypic variation. Once the responsible genes are known, the second premise is that we should focus upon changing "nature" rather than "nurture" by correcting the "defective" genes. The first premise is flawed because associations between genetic markers and phenotypes can be spurious, as shown by an example. Moreover, it is shown that using non-causative but associated genetic markers one at a time (the normal practice) can lead to incorrect predictions of disease risk for many individuals. Going from association to causation is a non-trivial step scientifically that has rarely been done in much of the human genetic research. Even when a particular locus does contribute to the phenotypic variation of interest, the first premise remains flawed because phenotypes in general arise from complex interactions among genes and between genes and environments as shown for genes associations with coronary artery disease (CAD). The ability of current molecular genetic tools to "fix" defective genotypes is extremely limited, but even if the technological problems could be overcome, the studies on CAD reveal no obvious "defective" gene to fix because the genetic effects are so context dependent (upon both other genes and environmental factors). Contrary to the second premise of the new eugenics, the more we learn about how different genotypes show variable responses to environments, the more important the environment becomes for individual treatment. The paradigm of a "defective gene" may work for classical Mendelian genetic diseases that are due to loss-of-function mutations. However, such mutations affect only a small portion of humanity. When the focus is changed to common disease and behavioral phenotypes, the "defective gene" paradigm is biologically meaningless and often harmful when applied to individuals. Thus, even when genes clearly do influence common phenotypic variation, the premises of the "new eugenics" are biologically indefensible.}, }
@article {pmid15114656, year = {2004}, author = {Jerne, NK}, title = {The somatic generation of immune recognition. 1971.}, journal = {European journal of immunology}, volume = {34}, number = {5}, pages = {1234-1242}, doi = {10.1002/eji.200425132}, pmid = {15114656}, issn = {0014-2980}, mesh = {Animals ; Antibodies/genetics/*history/immunology ; Clonal Deletion/*immunology ; Histocompatibility Antigens/*genetics/*history ; History, 20th Century ; Humans ; Immune System/*immunology ; }, abstract = {Antibody specificity is determined by structural v-genes that code for the amino acid sequences of the variable regions of antibody polypeptide chains. The present hypothesis proposes that the germ-cells of an animal carry a set of v-genes determining the combining sites of antibodies directed against a complete set of certain class of histocompatibility antigens of the species to which this animal belongs. The evolutionary development of this set of v-genes in phylogeny is traced back to the requirements for cell to cell recognition in all metazoa. The hypothesis leads to a distinction between two populations of antigen-sensitive cells. One population consists of cells forming antibodies against foreign antigens; these lymphocytes have arisen as mutants in clones descending from lymphocytic stem cells which expressed v-genes belonging to the subset (subset S) coding for antibody against histocompatibility antigens that the individual happens to possess. The other population consists of allograft rejecting lymphocytes that express v-genes of the remaining subset (subset A) coding for antibody against histocompatibility antigens of the species that the individual does not possess. The primary lymphoid organs are viewed as mutant-breeding organs. In these organs (e.g. in the thymus), the proliferation of lymphocytes expressing the v-genes of subset S and the subsequent suppression of the cells of these "forbidden" clones, leads to the selection of mutants cells expressing v-genes that have been modified by spontaneous random somatic mutation. This process generates self-tolerance as well as a diverse population of antigen-sensitive cells that reflects antibody diversity. The proliferation in the primary lymphoid organs of lymphocytes expressing v-genes of subset A generates the antigen-sensitive cell population that is responsible for allo-aggression. The theory explains how a functional immune system can develop through a selection pressure exerted by self-antigens, starting during a period in early ontogeny that precedes clonal selection by foreign antigens. The hypothesis provides explanations for the variability of the N-terminal regions of antibody polypeptide chains, for the dominant genetic control of specific immune responsiveness by histocompatibility alleles, for the relative preponderance of antigen-sensitive cells directed against allogeneic histocompatibility antigens, for antibody-idiotypes, for allelic exclusion, for the precommitment of any given antigen-sensitive lymphocyte to form antibodies of only one molecular species and for the cellular dynamics in the primary lymphoid tissues.}, }
@article {pmid15079012, year = {2004}, author = {Vadlamudi, L and Andermann, E and Lombroso, CT and Schachter, SC and Milne, RL and Hopper, JL and Andermann, F and Berkovic, SF}, title = {Epilepsy in twins: insights from unique historical data of William Lennox.}, journal = {Neurology}, volume = {62}, number = {7}, pages = {1127-1133}, doi = {10.1212/01.wnl.0000118201.89498.48}, pmid = {15079012}, issn = {1526-632X}, mesh = {Adolescent ; Adult ; Age of Onset ; Americas ; Australia ; Child ; Child, Preschool ; Diseases in Twins/classification/diagnosis/*genetics/history ; Electroencephalography ; Epilepsy/classification/diagnosis/*genetics/history ; Female ; History, 20th Century ; Humans ; Infant ; Male ; Models, Statistical ; Registries ; Reproducibility of Results ; Retrospective Studies ; Terminology as Topic ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics ; }, abstract = {OBJECTIVE: To classify the Lennox twin pairs according to modern epilepsy classifications, use the classic twin model to identify which epilepsy syndromes have an inherited component, search for evidence of syndrome-specific genes, and compare concordances from Lennox's series with a contemporary Australian series.<br><br>METHODS: Following review of Lennox's original files describing twins with seizures from 1934 through 1958, the International League Against Epilepsy classifications of seizures and epileptic syndromes were applied to 169 pairs. Monozygous (MZ) and dizygous (DZ) pairs were subdivided into epilepsy syndromes and casewise concordances estimated.<br><br>RESULTS: The authors excluded 26 pairs, with 71 MZ and 72 DZ pairs remaining. Seizure analysis demonstrated strong parallels between contemporary seizure classification and Lennox's terminology. Epilepsy syndrome diagnoses were made in 75%. The MZ and DZ casewise concordance estimates gave strong evidence for a major genetic influence in idiopathic generalized epilepsies (0.80 versus 0.00; n = 23). High MZ casewise concordances also supported a genetic etiology in symptomatic generalized epilepsies and febrile seizures. The pairs who were concordant for seizures usually had the same syndromic diagnoses in both twins (86% in MZ, 60% in DZ), suggesting syndrome-specific genes. Apart from partial epilepsies, the MZ casewise concordances were similar to those derived from Australian twin data.<br><br>CONCLUSIONS: The authors were able to apply contemporary classifications to Lennox's twins. The data confirm genetic bases for common generalized epilepsies as well as febrile seizures and provide further support for syndrome-specific genes. Finally, comparable results to our Australian series were obtained, verifying the value of twin studies.}, }
@article {pmid15075136, year = {2004}, author = {Katan, MB}, title = {Apolipoprotein E isoforms, serum cholesterol, and cancer. 1986.}, journal = {International journal of epidemiology}, volume = {33}, number = {1}, pages = {9}, doi = {10.1093/ije/dyh312}, pmid = {15075136}, issn = {0300-5771}, mesh = {Amino Acid Sequence ; Apolipoproteins E/genetics/*history ; Cholesterol/blood/*history ; History, 20th Century ; Humans ; Neoplasms/etiology/*history ; }, }
@article {pmid14986860, year = {2003}, author = {Ruden, DM and Garfinkel, MD and Sollars, VE and Lu, X}, title = {Waddington's widget: Hsp90 and the inheritance of acquired characters.}, journal = {Seminars in cell &amp; developmental biology}, volume = {14}, number = {5}, pages = {301-310}, doi = {10.1016/j.semcdb.2003.09.024}, pmid = {14986860}, issn = {1084-9521}, support = {DK57301/DK/NIDDK NIH HHS/United States ; R01 CA105349/CA/NCI NIH HHS/United States ; R01 GM63225/GM/NIGMS NIH HHS/United States ; R01 AA012276/AA/NIAAA NIH HHS/United States ; R21 ES11751/ES/NIEHS NIH HHS/United States ; DK60821/DK/NIDDK NIH HHS/United States ; R01 AA12276/AA/NIAAA NIH HHS/United States ; T32-CA09678/CA/NCI NIH HHS/United States ; }, mesh = {Animals ; *Biological Evolution ; Gene Expression Regulation, Developmental/physiology ; HSP90 Heat-Shock Proteins/*genetics/history ; History, 20th Century ; *Models, Genetic ; *Mutation ; }, abstract = {Conrad Waddington published an influential model for evolution in his 1942 paper, Canalization of Development and Inheritance of Acquired Characters. In this classic, albeit controversial, paper, he proposed that an unknown mechanism exists that conceals phenotypic variation until the organism is stressed. Recent studies have proposed that the highly conserved chaperone Hsp90 could function as a "capacitor," or an "adaptively inducible canalizer," that masks silent phenotypic variation of either genetic or epigenetic origin. This review will discuss evidence for, and arguments against, the role of Hsp90 as a capacitor for morphological evolution, and as a key component of what we call "Waddington's widget."}, }
@article {pmid14969264, year = {2003}, author = {Snelders, S and Pieters, T}, title = {[Current thought on hereditary transmission and human genetics].}, journal = {Gewina}, volume = {26}, number = {4}, pages = {203-215}, pmid = {14969264}, issn = {0928-303X}, mesh = {Eugenics/*history ; Genetics/*history ; *Heredity ; History, 20th Century ; Philosophy, Medical/*history ; }, abstract = {On the basis of a review of the historiography on thought about hereditary transmission and human genetics in the 20th century in Britain, the United States, Germany, Russia, Sweden, and the Netherlands, a new research perspective is formulated. Concepts of heredity and their use in society have been various and diverse. Definitions of heredity and of the influence of 'nature' and 'nurture' in shaping genetic material have significantly changed. In the new research perspective the focus is directed to the role of a broad range of concepts of heredity in framing debates and practices around health, disease, and behaviour, including but not exclusively the concepts of Mendelian genetics, neo-Lamarckism', and concepts prevalent in eugenic movements. A research programme is outlined that is directed at specific problem fields in health care (e.g. alcoholism), and uses various sources to examine the historical dynamics in medical and public spheres.}, }
@article {pmid14760654, year = {2004}, author = {Sander, K and Schmidt-Ott, U}, title = {Evo-devo aspects of classical and molecular data in a historical perspective.}, journal = {Journal of experimental zoology. Part B, Molecular and developmental evolution}, volume = {302}, number = {1}, pages = {69-91}, doi = {10.1002/jez.b.20003}, pmid = {14760654}, issn = {1552-5007}, mesh = {Animals ; *Biological Evolution ; Body Patterning/*physiology ; Developmental Biology/*history ; Drosophila Proteins ; *Gene Expression Regulation, Developmental ; History, 19th Century ; History, 20th Century ; Homeodomain Proteins/genetics ; Insecta/embryology/genetics ; Lens Capsule, Crystalline/embryology ; Molecular Biology/*history ; Signal Transduction ; Symbiosis ; Trans-Activators/genetics ; }, abstract = {We discuss the interplay between evolution and development as reflected in data and concepts since about 1800. Darwin and his "continental apostle" Haeckel put the striking similarity between early vertebrate embryos in an evolutionary context. Haeckel's partly illicit generalizations discredited evolutionary thinking among early experimental embryologists who moreover noted riddles incompatible with contemporary concepts of homology and evolution. Relevant solutions were suggested by the more recent concept of ontogenetic networks that embody complex regulatory properties and genes with partly overlapping functions. Molecular data on development increasingly reveal evolutionary opportunism, for instance when a widespread signaling chain involved in primitive immune defense was apparently recruited later on for dorso-ventral axis determination in some evolutionarily advanced insect groups. Recently, Rickettsia-related bacteria colonizing many arthropod species were found to "manipulate" the first steps of host development to the advantage of their own propagation, but by ways that could also promote host speciation. Molecular genetics can now document evolutionary steps in ontogenetic networks. In the fruit fly for instance, the novel bicoid gene has superseded a crucial patterning function within a pre-existing network--a case of "molecular caenogenesis." The expression patterns of conserved genes that antagonistically determine dorso-ventral polarity support a literal revolution envisioned almost 200 years ago. This is the dorso-ventral inversion of the body plan in some metazoans--ascribed then to the Articulata, now to the Chordata. The final section posits that the opportunistic character of evolutionary innovations is detrimental to parsimony in development.}, }
@article {pmid14657675, year = {2003}, author = {Hasek, M}, title = {Vegetative hybridization of animals by joint blood circulation during embryonal development. 1953.}, journal = {Transplantation}, volume = {76}, number = {10}, pages = {1412-1421}, doi = {10.1097/01.TP.0000101933.59274.B5}, pmid = {14657675}, issn = {0041-1337}, mesh = {Animals ; Blood Circulation/*physiology ; Cattle ; Ducks ; History, 20th Century ; Hybridization, Genetic/physiology ; Morphogenesis ; }, }
@article {pmid14655880, year = {2003}, author = {Fix, AG}, title = {Simulating hemoglobin history.}, journal = {Human biology}, volume = {75}, number = {4}, pages = {607-618}, doi = {10.1353/hub.2003.0053}, pmid = {14655880}, issn = {0018-7143}, mesh = {*Alleles ; Genetics, Medical/*history ; Genetics, Population ; Hemoglobins/*genetics/*history ; History, 20th Century ; Humans ; *Models, Biological ; Mutation/genetics ; }, abstract = {In one of the truly classic works in anthropological genetics, Frank Livingstone established the interrelationships between agriculture, mosquito ecology, malaria, and, consequently, the frequencies of sickle cell hemoglobin in West Africa. A major inference from Livingstone's study was the recency of malaria as a selective agent in human populations, only becoming significant after the adoption of agriculture in the last few thousand years. Clines of the abnormal hemoglobin alleles might therefore represent continuing waves of advance of adaptive alleles. In order to model the complex interaction of several hemoglobin alleles, selection, and gene flow spreading adaptive mutants, Livingstone turned to computer simulation. Numerous insights concerning the competitive increase of different alleles (hemoglobins S, C, and E and thalassemia), the rate of allele spread under different migration scenarios, including the potential importance of long-range migration, came out of these studies. These experiments also stimulated others to search for mechanisms that might increase the diffusion rate of hemoglobin variants, including kin-structured migration and epidemic disease selection. Recent molecular studies have substantiated major aspects of Livingstone's work (including the recent origin of falciparum malaria) and posed challenges to some of his assumptions (such as the number of mutations to hemoglobins S and E). But whatever the fate of his specific hypotheses, his emphasis on the interaction of genetics, ecology, and culture stands as a model for the anthropological approach to the understanding of human variation and evolution.}, }
@article {pmid14655878, year = {2003}, author = {Williams, RC}, title = {The mind of primitive anthropologists: hemoglobin and HLA, patterns of molecular evolution.}, journal = {Human biology}, volume = {75}, number = {4}, pages = {577-584}, doi = {10.1353/hub.2003.0066}, pmid = {14655878}, issn = {0018-7143}, mesh = {Alleles ; Anthropology, Physical/*trends ; *Biological Evolution ; HLA Antigens/*analysis ; Hemoglobins/*analysis ; History, 20th Century ; Humans ; Molecular Biology/history ; Polymorphism, Genetic/genetics ; }, abstract = {Frank Livingstone played a central role in defining the population genetics of the sickle cell mutation at position 6 of the human beta globin gene, the most famous amino acid substitution in evolutionary biology. Its discovery occurred at a time when traditional, 19th-century principles of natural selection were being joined with the newly discovered mechanics of DNA structure and protein synthesis to produce Neo-Darwinian theory. When combined with the epidemiology of malaria in Africa, differential mortality for both homozygotes, and the resulting advantage of the heterozygote, sickle cell became the classic balanced polymorphism. Human HLA-A has 237 molecular alleles. The histocompatibility system has as its primary function the presentation of peptides to T-cell receptors and plays an essential role in the immune system. Nearly all of the alleles are codominant and fully functional. Despite almost 30 years of disease-association studies with HLA-A, no convincing evidence has been found for differential fertility or mortality at this locus. Yet the dogma in the histocompatibility field is that this extensive human polymorphism is maintained by "balancing selection." Explaining HLA-A polymorphism is what one might call the sickle-cell-effect. This one mutation, coming as it did at the historical convergence of Darwinian theory and modern genetics, and carrying with it the strong relationship between mutation, disease, and allele frequency, has conditioned our discussion of human genetic variation and population genetics. Has the strength of this early idea made evolutionary biologists uncritical of systems like HLA-A and retarded the search for new mechanisms of molecular evolution? Is it now time to move away from a focus on mutation and polymorphism in evolutionary genetics and toward a systems theory that would explain the origin and evolution of hemoglobin and HLA-A and the biochemical pathways that surround them?}, }
@article {pmid14654657, year = {2003}, author = {Koch, R and Azen, C and Friedman, E and Hanley, W and Levy, H and Matalon, R and Rouse, B and Trefz, F and Ning, J and de la Cruz, F}, title = {Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study.}, journal = {Pediatrics}, volume = {112}, number = {6 Pt 2}, pages = {1519-1522}, pmid = {14654657}, issn = {1098-4275}, support = {N01-HD-2-3148/HD/NICHD NIH HHS/United States ; }, mesh = {Adolescent ; Adult ; Child ; Child, Preschool ; Controlled Clinical Trials as Topic/*history ; Female ; History, 20th Century ; Humans ; Multicenter Studies as Topic/*history ; Phenylketonuria, Maternal/diet therapy/genetics/*history ; Phenylketonurias/genetics/history ; Pregnancy ; Prenatal Care/history ; *Research Design ; }, abstract = {OBJECTIVE: The Maternal PKU Collaborative Study (MPKUCS) was initiated in 1984 by the National Institute of Child Health and Human Development (NICHD). The purpose was to assess the efficacy of dietary restriction of phenylalanine in reducing morbidity in offspring of women with hyperphenylalaninemia (HPA). A contract was awarded to Childrens Hospital Los Angeles as the Coordinating Center to provide implementation of the research protocol, data collection, and analysis.<br><br>METHODS: The Study included four regional contributing centers: Childrens Hospital Los Angeles (Western Region), Boston Children's Hospital (Northeast Region), University of Illinois (Midwest Region), and University of Texas Medical Branch, Galveston (Southeast Region). Within each region, many participating clinics were responsible for obstetric care, treatment, and monitoring protocols. In 1985, Canada joined the MPKUCS, and in 1992, Germany entered. They were selected because they provided dietary supplies and strong professional services. Acquisition began in 1984 and ended in October 1995. The study included 574 pregnancies in women with HPA and 100 control subjects matched on age, race, parity, and weeks of gestation. The sample included women with blood phenylalanine values >240 micromol/L, 66% of whom had classical PKU, 22% had atypical PKU, and 12% had mild HPA. Informed consents were obtained on all participants. The women ranged in age from 15 to 36 years of age, with a mean age at conception of 23 years. Teenage pregnancies accounted for 19%. Seventy-five percent graduated from high school. Offspring included 416 newborns, 317 of whom were evaluated at 4 years of age and 289 at 6 to 7 years. Follow-up involved medical, nutritional, psychosocial, and psychological assessments.<br><br>CONCLUSION: Women with PKU treated before conception and in control of their blood phenylalanine levels between 120 and 360 micromol/L (2-6 mg) exhibited normal pregnancies and neonatal outcome. Surprisingly, women who achieved control in the recommended range by 8 weeks of pregnancy also had a normal fetal outcome.}, }
@article {pmid14570061, year = {2003}, author = {Olins, DE and Olins, AL}, title = {Chromatin history: our view from the bridge.}, journal = {Nature reviews. Molecular cell biology}, volume = {4}, number = {10}, pages = {809-814}, doi = {10.1038/nrm1225}, pmid = {14570061}, issn = {1471-0072}, mesh = {Cell Nucleus/metabolism ; *Chromatin/chemistry/ultrastructure ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Genetic ; Nucleosomes/chemistry/metabolism ; }, abstract = {Thirty years ago, our conception of chromatin structure underwent a total metamorphosis as the nucleosome era began. In Kurosawa's classic movie 'Rashomon' (1951), each participant had a different perspective of the same pivotal event. This review outlines our perception of history.}, }
@article {pmid12897777, year = {2003}, author = {Schwarz-Sommer, Z and Davies, B and Hudson, A}, title = {An everlasting pioneer: the story of Antirrhinum research.}, journal = {Nature reviews. Genetics}, volume = {4}, number = {8}, pages = {657-666}, doi = {10.1038/nrg1127}, pmid = {12897777}, issn = {1471-0056}, support = {G19465/BB_/Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Antirrhinum/*genetics ; *Genes, Plant ; Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {Despite the tremendous success of Arabidopsis thaliana, no single model can represent the vast range of form that is seen in the approximately 250,000 existing species of flowering plants (angiosperms). Here, we consider the history and future of an alternative angiosperm model--the snapdragon Antirrhinum majus. We ask what made Antirrhinum attractive to the earliest students of variation and inheritance, and how its use led to landmark advances in plant genetics and to our present understanding of plant development. Finally, we show how the wide diversity of Antirrhinum species, combined with classical and molecular genetics--the two traditional strengths of Antirrhinum--provide an opportunity for developmental, evolutionary and ecological approaches. These factors make A. majus an ideal comparative angiosperm.}, }
@article {pmid12848801, year = {2003}, author = {Galton, F}, title = {A diagram of heredity.}, journal = {Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc}, volume = {8}, number = {2}, pages = {171-172}, doi = {10.1046/j.1542-474x.2003.08214.x}, pmid = {12848801}, issn = {1082-720X}, mesh = {Animals ; Female ; Genetics, Medical/*history ; *Heredity ; History, 19th Century ; Male ; }, }
@article {pmid12848800, year = {2003}, author = {Moss, AJ}, title = {Introductory note to a classic article by Francis Galton.}, journal = {Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc}, volume = {8}, number = {2}, pages = {170}, doi = {10.1046/j.1542-474x.2003.08213.x}, pmid = {12848800}, issn = {1082-720X}, mesh = {Genetics, Medical/*history ; Heredity ; History, 19th Century ; Humans ; }, }
@article {pmid12838445, year = {2003}, author = {Pinal Fernández, B and Pérez Bravo, A}, title = {[Impulsivity: historical and conceptual review].}, journal = {Actas espanolas de psiquiatria}, volume = {31}, number = {4}, pages = {220-230}, pmid = {12838445}, issn = {1139-9287}, mesh = {Compulsive Behavior/*history ; History, 19th Century ; History, 20th Century ; Impulsive Behavior/*history ; Psychological Theory ; Psychology/history ; Terminology as Topic ; }, abstract = {There is great confusion about the concept of impulsivity despite its important clinical use. Limits with others symptoms or behaviors, like aggressiveness, are imprecise, and we find no general agreement on the definition of impulsivity in the present literature. From the point of view of neurosciences, adequate identification and measurement of a symptom as impulsivity could increase the validity of syndromic diagnoses, improve the development of animal models and genetic studies, and improve the treatment of several psychiatric disorders. Based on this perspective, the overall goals of this review article are: a) to establish the historical evolution of term, concept and behavior that we presently identify as impulsivity, starting from the classical psychopathology of the will; b) to review several concepts of impulsivity described in the scientific literature, and c) to provide basic guidelines for an operative definition, just as some authors have proposed, to create research lines and understand various discoveries that basic sciences have contributed.}, }
@article {pmid12811764, year = {2003}, author = {Brown, SJ}, title = {Entomological contributions to genetics: studies on insect germ cells linked genes to chromosomes and chromosomes to mendelian inheritance.}, journal = {Archives of insect biochemistry and physiology}, volume = {53}, number = {3}, pages = {115-118}, doi = {10.1002/arch.10092}, pmid = {12811764}, issn = {0739-4462}, support = {R01 HD029594/HD/NICHD NIH HHS/United States ; R01 HD029594-12/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Chromosomes/genetics ; Entomology/*history/methods ; Genes, Insect/genetics ; Genetics/*history ; Germ Cells/*physiology ; Heredity/genetics ; History, 20th Century ; Insecta/*genetics ; Meiosis/genetics ; }, }
@article {pmid12784973, year = {2002}, author = {Garrod, AE}, title = {The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article].}, journal = {The Yale journal of biology and medicine}, volume = {75}, number = {4}, pages = {221-231}, pmid = {12784973}, issn = {0044-0086}, mesh = {Alkaptonuria/epidemiology/genetics/*history/metabolism ; Animals ; Consanguinity ; Diet/history ; Female ; History, 20th Century ; Homogentisic Acid/history/metabolism ; Humans ; Male ; }, }
@article {pmid12778899, year = {2003}, author = {Falk, R}, title = {Linkage: from particulate to interactive genetics.}, journal = {Journal of the history of biology}, volume = {36}, number = {1}, pages = {87-117}, pmid = {12778899}, issn = {0022-5010}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {Genetics was established on a strict particulate conception of heredity. Genetic linkage, the deviation from independent segregation of Mendelian factors, was conceived as a function of the material allocation of the factors to the chromosomes, rather than to the multiple effects (pleiotropy) of discrete factors. Although linkage maps were abstractions they provided strong support for the chromosomal theory of inheritance. Direct Cytogenetic evidence was scarce until X-ray induced major chromosomal rearrangements allowed direct correlation of genetic and cytological rearrangements. Only with the discovery of the polytenic giant chromosomes in Drosophila larvae in the 1930s were the virtual maps backed up by physical maps of the genetic loci. Genetic linkage became a pivotal experimental tool for the examination of the integration of genetic functions in development and in evolution. Genetic mapping has remained a hallmark of genetic analysis. The location of genes in DNA is a modern extension of the notion of genetic linkage.}, }
@article {pmid12763361, year = {2003}, author = {Feder, JN and Gnirke, A and Thomas, W and Tsuchihashi, Z and Ruddy, DA and Basava, A}, title = {The discovery of the new haemochromatosis gene. 1996.}, journal = {Journal of hepatology}, volume = {38}, number = {6}, pages = {704-709}, doi = {10.1016/s0168-8278(03)00142-9}, pmid = {12763361}, issn = {0168-8278}, mesh = {Gastroenterology/history ; Genetics/history ; Hemochromatosis/genetics/*history ; Hemochromatosis Protein ; Histocompatibility Antigens Class I/genetics/*history ; History, 20th Century ; Humans ; Membrane Proteins/genetics/*history ; Mutation ; }, }
@article {pmid12708263, year = {2003}, author = {Cruz-Coke, R}, title = {[Evaluation of classical works in the history of genetics ].}, journal = {Revista medica de Chile}, volume = {131}, number = {2}, pages = {220-224}, pmid = {12708263}, issn = {0034-9887}, mesh = {*Bibliometrics ; Genetics/*history ; History, 20th Century ; Human Genome Project/history ; Molecular Biology/history ; Nobel Prize ; Research/history ; }, abstract = {The classical Mendelian genetics forged the development of biomedical sciences in the twentieth century. However, the classical works that allowed the sequencing of human genoma, have not received the recognition that they deserve. The author does a historical revision of works, considered classic in genetics and its specialties such as cytogenetics, biochemical genetics, immunogenetics and molecular genetics, published between 1990 and 1999. Authors that received the Nobel Prize are identified and the works are sorted in chronological order. Most founders of genetics specialties, have not received the Nobel Prize. Only 26 of 80 classical works have been awarded with such distinction. Almost all founders of Mendelian genetics and human cytogenetics, have been unrewarded. The author proposes to create the "Johan Gregory Mendel Prize" for geneticists.}, }
@article {pmid12680303, year = {2002}, author = {Thom, R and Sermonit, G}, title = {[Darwin after 100 years. 1983].}, journal = {Rivista di biologia}, volume = {95}, number = {3}, pages = {345-352}, pmid = {12680303}, issn = {0035-6050}, mesh = {Animals ; *Biological Evolution ; Biology/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Mutagenesis ; }, abstract = {The triumph of Darwinism, together with the rise of Genetics, produced the virtual abandonment of the problem of form in Biology. The statement that any adaptive theory is tautological is however poor, the adaptation concept having an evident intuitive content. As in Geometrical Optics, a ray of light is, among the crowd of continuous curves uniting two points, the one requiring the minimum time for the light to go from one point to the other, so actual evolution, among the crowd of virtual evolutions between two forms, is the one best fitted to face 'selective pressure' in a given environment. The effect of selective pressure on the genome is unfortunately a merely theoretical not quantifiable concept. Most biological forms are forced by their internal stability to an essential fixity, so that the leap from one type-form to another should be abrupt-catastrophic. A good theory of evolution depends on a proper understanding of specific form stability. Biology must eventually return to the concept of ideal structure, the Goethian 'Urbild'.}, }
@article {pmid12610532, year = {2003}, author = {Botstein, D and Risch, N}, title = {Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.}, journal = {Nature genetics}, volume = {33 Suppl}, number = {}, pages = {228-237}, doi = {10.1038/ng1090}, pmid = {12610532}, issn = {1061-4036}, mesh = {Alleles ; Chromosome Mapping ; Cloning, Molecular ; Genetic Diseases, Inborn/*genetics/history ; Genomics/history/trends ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Linkage Disequilibrium ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide ; }, abstract = {The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles derived from these successes should be applied now to strategies aimed at finding the considerably more elusive genes that underlie complex disease phenotypes. The distribution of types of mutation in mendelian disease genes argues for serious consideration of the early application of a genomic-scale sequence-based approach to association studies and against complete reliance on a positional cloning approach based on a map of anonymous single nucleotide polymorphism haplotypes.}, }
@article {pmid12596893, year = {2003}, author = {York, DF and Querat, G}, title = {A history of ovine pulmonary adenocarcinoma (jaagsiekte) and experiments leading to the deduction of the JSRV nucleotide sequence.}, journal = {Current topics in microbiology and immunology}, volume = {275}, number = {}, pages = {1-23}, doi = {10.1007/978-3-642-55638-8_1}, pmid = {12596893}, issn = {0070-217X}, mesh = {Animals ; Antibodies, Monoclonal/history ; Base Sequence ; Cloning, Molecular ; DNA, Viral/chemistry/history ; Genome, Viral ; History, 19th Century ; History, 20th Century ; Jaagsiekte sheep retrovirus/*genetics/immunology/isolation &amp; purification/pathogenicity ; Phylogeny ; Pulmonary Adenomatosis, Ovine/epidemiology/*history/pathology/virology ; Sheep ; }, abstract = {Jaagsiekte (JS), a contagious cancer affecting the lungs of sheep has been called many names over the years. At a recent workshop in Missilac, France it was agreed that the disease would be called ovine pulmonary adenocarcinoma (OPA). The disease is caused by an infectious retrovirus called jaagsiekte sheep retrovirus (JSRV). This chapter focuses on the early research that led up to the isolation, cloning and sequencing of the exogenous infectious form of JSRV and the demonstration that it has an endogenous counter part that is present in all sheep. As there was no in vitro production source of the virus much of the early research focused on the in vivo production and purification of the virus to obtain sufficient material to use to identify the viral proteins and purify the viral genetic material. Typically, new born lambs were inoculated intra-tracheally with concentrated lung lavage from previously infected sheep lungs. The optimal purification involved the concentration of lung lavage of freshly slaughtered sheep, an extraction with organic solvent, and final purification by both rate zonal and isopycnic centrifugation. Monoclonal and polyclonal antibodies were made against the purified fractions. The polyclonal antibodies were not very specific and the monoclonal antibodies proved to be against antigens expressed in high concentrations in response to any lung pathology. The genomic RNA of the virus was isolated from ex vivo purified materials, and cloned as a collection of cDNAs. The full length sequence was assembled by walking through the cDNA clones. The genome of the exogenous virus is 7462 bases and has the classical gag, pol, env genome arrangement and is flanked by a long terminal repeat (LTR) on each end. An additional open reading frame (ORF) was observed in the viral genome and has been called orfX. A function has not been determined for this ORF. JSRV is classified as a betaretrovirus, with gag and pol closely related to D type retrovirus, whereas env is related to the B type viruses such as the human endogenous retrovirus HERV-K. An interesting finding was that the exogenous infectious virus had an endogenous counter part which is present in the genomes of all sheep and goats. It is estimated that there are between 15 and 20 endogenous loci per sheep genome. No circulating antibodies have been found in OPA-affected sheep. It is suggested that the endogenous JSRV transcripts are expressed at an early age and are cause for the clonal elimination of JSRV specific T cells during T-cell ontogeny. Histopathologically the sheep disease resembles human bronchiolar alveolar carcinoma and has been identified as a natural out bred animal model that could be used to study the human disease.}, }
@article {pmid12586691, year = {2003}, author = {Paigen, K}, title = {One hundred years of mouse genetics: an intellectual history. I. The classical period (1902-1980).}, journal = {Genetics}, volume = {163}, number = {1}, pages = {1-7}, pmid = {12586691}, issn = {0016-6731}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; Mice/*genetics ; Mice, Inbred Strains/genetics ; Neoplasms/genetics ; }, }
@article {pmid12549500, year = {2002}, author = {Brush, SG}, title = {How theories became knowledge: Morgan's chromosome theory of heredity in America and Britain.}, journal = {Journal of the history of biology}, volume = {35}, number = {3}, pages = {471-535}, pmid = {12549500}, issn = {0022-5010}, mesh = {Chromosomes/*genetics ; *Heredity ; History, 19th Century ; History, 20th Century ; History, 21st Century ; *Knowledge ; Philosophy, Medical/*history ; United Kingdom ; United States ; }, abstract = {T. H. Morgan, A. H. Sturtevant, H. J. Muller and C. B. Bridges published their comprehensive treatise The Mechanism of Mendelian Heredity in 1915. By 1920 Morgan's "Chromosome Theory of Heredity" was generally accepted by geneticists in the United States, and by British geneticists by 1925. By 1930 it had been incorporated into most general biology, botany, and zoology textbooks as established knowledge. In this paper, I examine the reasons why it was accepted as part of a series of comparative studies of theory-acceptance in the sciences. In this context it is of interest to look at the persuasiveness of confirmed novel predictions, a factor often regarded by philosophers of science as the most important way to justify a theory. Here it turns out to play a role in the decision of some geneticists to accept the theory, but is generally less important than the CTH's ability to explain Mendelian inheritance, sex-linked inheritance, non-disjunction, and the connection between linkage groups and the number of chromosome pairs; in other words, to establish a firm connection between genetics and cytology. It is remarkable that geneticists were willing to accept the CTH as applicable to all organisms at a time when it had been confirmed only for Drosophila. The construction of maps showing the location on the chromosomes of genes for specific characters was especially convincing for non-geneticists.}, }
@article {pmid12547672, year = {2002}, author = {Van Speybroeck, L and De Waele, D and Van de Vijver, G}, title = {Theories in early embryology: close connections between epigenesis, preformationism, and self-organization.}, journal = {Annals of the New York Academy of Sciences}, volume = {981}, number = {}, pages = {7-49}, pmid = {12547672}, issn = {0077-8923}, mesh = {Animals ; Embryology/*history ; Embryonic and Fetal Development/*genetics ; Genetics/*history ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; Philosophy, Medical/history ; }, abstract = {In current biological and philosophical literature, the use of the terms epigenesis and epigenetics has increased tremendously. As these terms are often confused, this paper aims at clarifying the distinction between them by drawing their conceptual and historical evolutions. The evolution of the term epigenesis is situated in the context of early embryological studies. Departing from Aristotle's natural philosophy, it is shown that epigenesis gained alternating attention from the 17th century onwards, as it was introduced into neo-classical embryology and considered to be the opposite of the preformationist tradition. Where preformation stated that the germ cells of each organism contain preformed miniature adults that unfold during development, epigenesis held that the embryo forms by successive gradual exchanges in an amorphous zygote. Although both traditions tried to explain developmental organization, religious and metaphysical arguments on the conception of embryonic matter as either active or passive determined the scope of their respective explanations. It is shown that these very arguments still underlie the use of gene-centric metaphors in the molecular revolution of the 20th century.}, }
@article {pmid12540699, year = {2002}, author = {Stewart, IM}, title = {Coronary disease and modern stress.}, journal = {International journal of epidemiology}, volume = {31}, number = {6}, pages = {1103-7; disscussion 1108-16}, doi = {10.1093/ije/31.6.1103}, pmid = {12540699}, issn = {0300-5771}, mesh = {Coronary Disease/etiology/*history ; Genetic Predisposition to Disease ; History, 20th Century ; Humans ; Personality ; Risk Factors ; Stress, Psychological/complications/*history ; United Kingdom ; }, }
@article {pmid12509755, year = {2003}, author = {Dietrich, MR}, title = {Richard Goldschmidt: hopeful monsters and other 'heresies'.}, journal = {Nature reviews. Genetics}, volume = {4}, number = {1}, pages = {68-74}, doi = {10.1038/nrg979}, pmid = {12509755}, issn = {1471-0056}, mesh = {Biological Evolution ; Disorders of Sex Development/*genetics/history ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; *Sex Determination Processes ; }, abstract = {Richard Goldschmidt is remembered today as one of the most controversial biologists of the twentieth century. Although his work on sex determination and physiological genetics earned him accolades from his peers, his rejection of the classical gene and his unpopular theories about evolution significantly damaged his scientific reputation. This article reviews Goldschmidt's life and work, with an emphasis on his controversial views.}, }
@article {pmid12455619, year = {2002}, author = {Tickle, C}, title = {The early history of the polarizing region: from classical embryology to molecular biology.}, journal = {The International journal of developmental biology}, volume = {46}, number = {7}, pages = {847-852}, pmid = {12455619}, issn = {0214-6282}, mesh = {Animals ; Extremities/*embryology ; Hedgehog Proteins ; History, 20th Century ; Limb Buds ; Molecular Biology/history ; Signal Transduction/physiology ; Trans-Activators/physiology ; Tretinoin/physiology ; Vertebrates/*embryology ; }, abstract = {The polarizing region of the developing limb bud is one of the best known examples of a cell-cell signalling centre that mediates patterning in vertebrate embryos. This article traces some highlights in the history of the polarizing region from its discovery by John Saunders and early work that defined polarizing activity through a period in which modelling was pre-eminent, right up to the discovery of defined molecules with polarizing activity. There is a particular focus on the discovery that retinoic acid could mimic signalling of the polarizing activity and this finding is then set in the context of more recent work which implicates Shh and BMPs in mediating polarizing activity.}, }
@article {pmid12400054, year = {2002}, author = {Strasser, BJ}, title = {Linus Pauling's "molecular diseases": between history and memory.}, journal = {American journal of medical genetics}, volume = {115}, number = {2}, pages = {83-93}, doi = {10.1002/ajmg.10542}, pmid = {12400054}, issn = {0148-7299}, mesh = {Anemia, Sickle Cell/etiology/*history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Legislation, Medical/history ; Molecular Biology/*history/instrumentation ; Research Support as Topic ; United States ; }, abstract = {In 1949, Linus Pauling and his collaborators published a study in the journal Science entitled "Sickle Cell Anemia, a Molecular Disease." In this now classic study, they showed that hemoglobin from patients suffering from sickle cell anemia has a different electrical charge than hemoglobin from healthy individuals. This result demonstrated for the first time that an abnormal protein could be causally linked to a disease, and that genes determined the structure of proteins. This report made headline news and had a powerful impact on both the biomedical community and the general public. Fifty years later, this study is discussed in almost every medical and biological textbook and has became a favorite example in editorials to illustrate the progress of biomedical research. This article explores the history of Pauling's sickle cell anemia and its subsequent integration in different collective memories, up to the present day. It also discusses the function of the collective memories of Pauling's discovery for contemporary biomedical research.}, }
@article {pmid12396367, year = {2002}, author = {Harich, N and Esteban, E and Chafik, A and López-Alomar, A and Vona, G and Moral, P}, title = {Classical polymorphisms in Berbers from Moyen Atlas (Morocco): genetics, geography, and historical evidence in the Mediterranean peoples.}, journal = {Annals of human biology}, volume = {29}, number = {5}, pages = {473-487}, doi = {10.1080/03014460110104393}, pmid = {12396367}, issn = {0301-4460}, mesh = {Alleles ; Blood Group Antigens/genetics ; Ethnicity/*genetics/history ; Gene Frequency ; Genetics, Population ; History, Ancient ; Humans ; Mediterranean Region ; Morocco ; *Polymorphism, Genetic ; }, abstract = {BACKGROUND: Mediterranean population relationships have recently been reviewed through the analysis of classical and DNA markers. The differentiation between Berbers and Arabic-speakers to the south, and the genetic impact of the seven centuries of Muslim domination in the Iberian Peninsula have been among the most interesting questions posed in these studies.<br><br>AIM: The present study seeks to assess the degree of genetic affinity between the two main population groups of Morocco: Berbers and Arabic-speakers. Data from the Berber study population were also compared with published information on 20 circum-Mediterranean groups.<br><br>SUBJECTS AND METHODS: A Berber sample of 140 individuals from Moyen Atlas (Morocco) has been characterized using 15 classical markers (ABO, Duffy, MNSs, Rh, ACPl, AKl, ESD, GLOI, 6-PGD, PGMl, GC, HP, PI, PLG and TF).<br><br>RESULTS: Allele frequencies in the Berbers fit well into the general southern Mediterranean ranges, albeit with some peculiarities, such as the high FY*A, ACPl*C, and PI*S values. The general pattern of relationships among Mediterranean peoples tested by genetic variance analysis was compatible with a north-south geographical differentiation. Spatial auto-correlation analysis in the different geographical regions of the Mediterranean reveals that the highest degree of association between allele frequencies and geographical distances corresponds to the western (41% of significant correlograms) and northern Mediterranean populations (33%). When only southern Mediterranean groups were considered, the degree of geographical structure considerably decreases (11% of significant correlograms).<br><br>CONCLUSIONS: The different loci studied revealed close similarity between the Berbers and other north African groups, mainly with Moroccan Arabic-speakers, which is in accord with the hypothesis that the current Moroccan population has a strong Berber background. Differences in the spatial pattern of allele frequencies also are compatible with specific population histories in distinct Mediterranean areas, rather than general population movements across the whole region.}, }
@article {pmid12392505, year = {2002}, author = {Arnaiz-Villena, A and Gomez-Casado, E and Martinez-Laso, J}, title = {Population genetic relationships between Mediterranean populations determined by HLA allele distribution and a historic perspective.}, journal = {Tissue antigens}, volume = {60}, number = {2}, pages = {111-121}, doi = {10.1034/j.1399-0039.2002.600201.x}, pmid = {12392505}, issn = {0001-2815}, mesh = {Africa South of the Sahara ; *Alleles ; Ethnicity/genetics ; *Gene Frequency ; Genetic Variation ; *Genetics, Population/history ; HLA Antigens/genetics/*history ; History, Ancient ; Humans ; Language ; Linguistics ; Mediterranean Region ; Models, Theoretical ; Phenotype ; Phylogeny ; }, abstract = {HLA genes allele distribution has been studied in Mediterranean and sub-Saharan populations. Their relatedness has been tested by genetic distances, neighbour-joining dendrograms and correspondence analyses. The population genetic relationships have been compared with the history of the classical populations living in the area. A revision of the historic postulates would have to be undertaken, particularly in the cases when genetics and history are overtly discordant. HLA genomics shows that: 1) Greeks share an important part of their genetic pool with sub-Saharan Africans (Ethiopians and west Africans) also supported by Chr 7 Markers. The gene flow from Black Africa to Greece may have occurred in Pharaonic times or when Saharan people emigrated after the present hyperarid conditions were established (5000 years B.C.). 2) Turks (Anatolians) do not significantly differ from other Mediterraneans, indicating that while the Asians Turks carried out an invasion with cultural significance (language), it is not genetically detectable. 3) Kurds and Armenians are genetically very close to Turks and other Middle East populations. 4) There is no HLA genetic trace of the so called Aryan invasion, which has only been defined on doubtful linguistic bases. 5) Iberians, including Basques, are related to north-African Berbers. 6) Present-day Algerian and Moroccan urban and country people show an indistinguishable Berber HLA profile.}, }
@article {pmid12378051, year = {2001}, author = {Fodstad, H}, title = {The neuron theory.}, journal = {Stereotactic and functional neurosurgery}, volume = {77}, number = {1-4}, pages = {20-24}, doi = {10.1159/000064596}, pmid = {12378051}, issn = {1011-6125}, mesh = {Animals ; Europe ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; *Models, Neurological ; Nerve Net/ultrastructure ; Neurology/*history ; *Neurons/physiology/ultrastructure ; }, abstract = {In 1740 the Swedish scientist and philosopher Emmanuel Swedenborg described what is the first known anticipation of the neuron (a nerve cell with its processes). One hundred years later Ehrenberg, Remak and Purkinje recognized the nerve cell as the important element of the nervous system and provided its first accurate description. Vilhelm von Waldeyer in 1891 proposed to call the unit 'neuron' from the Greek word for 'sinew'. The 'neuron theory' or 'neuron doctrine', which emerged at the end of the 19th century, asserts that nerve tissue is composed of individual cells, which are genetic, anatomic, functional and trophic units. The pioneers of the neuron doctrine included neuroscientists, physicians, a polar explorer and three Nobel Laureates. The classic neuron doctrine has served well as the theoretical basis for the great advances in our current understanding of the cellular basis of nervous system functions.}, }
@article {pmid12373285, year = {2002}, author = {Cohen, SG and Blumenthal, MN}, title = {Cooke and Vander Veer on heredity and sensitization.}, journal = {The Journal of allergy and clinical immunology}, volume = {110}, number = {4}, pages = {674-680}, pmid = {12373285}, issn = {0091-6749}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Hypersensitivity/*history ; Immunization/*history ; United States ; }, }
@article {pmid12271513, year = {2002}, author = {Ariyoshi, N}, title = {[Clinical pharmacogenetics and future prospects in drug therapy].}, journal = {Nihon yakurigaku zasshi. Folia pharmacologica Japonica}, volume = {120}, number = {3}, pages = {181-186}, doi = {10.1254/fpj.120.181}, pmid = {12271513}, issn = {0015-5691}, mesh = {Cytochrome P-450 Enzyme System/genetics ; Drug Therapy/*trends ; *Forecasting ; History, 20th Century ; Humans ; *Pharmacogenetics/history/trends ; Polymorphism, Single Nucleotide ; }, abstract = {The human genome project has a large impact on various drug-related fields including drug discovery and clinical medication. Although clinical pharmacogenetics introduced the importance of studying genetic factors determining inter-individual variation on drug response for establishing a personalized medicine, which will be achieved in this century, recent strategies for exploring the genetic factors drastically differ from those of classical pharmacogenetics. The usefulness of an application of findings obtained from basic researches to a medication is uncertain at present because of limited in vivo evidence on the significance of genetic polymorphism to ensure an efficacy or to avoid adverse reactions of the drugs. In this review, a brief history of pharmacogenetics and the current status of the research are summarized. A number of problems that make it difficult to do clinical trials to clarify the significance of genetic polymorphism are discussed. Finally, it is expected in the near future that information on genetic variation with in silico technologies may predict the response toward drugs in each patient with various physiological and therapeutic conditions.}, }
@article {pmid12217593, year = {2002}, author = {Grompe, M}, title = {Complete hepatic regeneration after somatic deletion of an albumin-plasminogen activator transgene. 1991.}, journal = {Journal of hepatology}, volume = {37}, number = {4}, pages = {422-424}, doi = {10.1016/s0168-8278(02)00206-4}, pmid = {12217593}, issn = {0168-8278}, mesh = {Albumins/genetics/*history ; Animals ; Gastroenterology/history ; Gene Deletion ; History, 20th Century ; *Liver Regeneration/genetics ; Plasminogen Activators/genetics/*history ; Transgenes ; }, }
@article {pmid12190924, year = {2002}, author = {McDevitt, H}, title = {The discovery of linkage between the MHC and genetic control of the immune response.}, journal = {Immunological reviews}, volume = {185}, number = {}, pages = {78-85}, doi = {10.1034/j.1600-065x.2002.18509.x}, pmid = {12190924}, issn = {0105-2896}, mesh = {Animals ; Gene Expression Regulation ; Genes, MHC Class II/genetics ; Genetic Linkage/genetics ; History, 20th Century ; Immunity/*genetics ; Immunogenetics/*history ; Major Histocompatibility Complex/*genetics/immunology ; Mice ; }, abstract = {Immunization of rabbits, and inbred strains of mice with branched, multichain, synthetic polypeptides, such as (T, G) - A--L and (H, G) - A--L, revealed striking differences in the ability of different strains of mice to produce specific antibody. F1 and F1 x parental backcross mice revealed clear genetic control. Initial attempts to link this genetic control to known genetic markers were unsuccessful. The second approach, which attempted to transfer response from high or immediate responders into low responder recipients, initially encountered graft vs. host and host vs. graft reactions. The transfer of F1 spleen cells into the low responder parent demonstrated that ability to respond was a property of immunocompetent cells (spleen cells), not of the recipient's background genes. Mapping studies with recombinant H2 haplotype congenic strains, and a classic 4-point mapping cross were concordant in placing the gene controlling this trait within the H2 complex, between the K and Ss loci. Subsequent studies mapped the genes for stimulation in the mixed lymphocyte culture reaction to the same position, suggesting cell surface expression. Production of antisera to 'I-region' products defined 'Ia' antigens, the 2-chain alpha/beta MHC class II molecules.}, }
@article {pmid12187434, year = {2002}, author = {Portin, P}, title = {Historical development of the concept of the gene.}, journal = {The Journal of medicine and philosophy}, volume = {27}, number = {3}, pages = {257-286}, doi = {10.1076/jmep.27.3.257.2980}, pmid = {12187434}, issn = {0360-5310}, mesh = {Genetics/*history ; Genetics, Population ; History, 20th Century ; Humans ; Molecular Biology/history ; Recombination, Genetic ; Sequence Analysis, DNA ; }, abstract = {The classical view of the gene prevailing during the 1910s and 1930s comprehended the gene as the indivisible unit of genetic transmission, genetic recombination, gene mutation and gene function. The discovery of intragenic recombination in the early 1940s led to the neoclassical concept of the gene, which prevailed until the 1970s. In this view the gene or cistron, as it was now called, was divided into its constituent parts, the mutons and recons, materially identified as nucleotides. Each cistron was believed to be responsible for the synthesis of one single mRNA and concurrently for one single polypeptide. The discoveries of DNA technology, beginning in the early 1970s, have led to the second revolution in the concept of the gene in which none of the classical or neoclassical criteria for the definition of the gene hold strictly true. These are the discoveries concerning gene repetition and overlapping, movable genes, complex promoters, multiple polyadenylation sites, polyprotein genes, editing of the primary transcript, pseudogenes and gene nesting. Thus, despite the fact that our comprehension of the structure and organization of the genetic material has greatly increased, we are left with a rather abstract, open and general concept of the gene. This article discusses past and present contemplations of genes, genomes, genotypes and phenotypes as well as the most recent advances of the study of the organization of genomes.}, }
@article {pmid12173487, year = {2000}, author = {de Chadarevian, S}, title = {Mapping development or how molecular is molecular biology?.}, journal = {History and philosophy of the life sciences}, volume = {22}, number = {3}, pages = {381-396}, pmid = {12173487}, issn = {0391-9714}, mesh = {Animals ; Caenorhabditis elegans/genetics/growth &amp; development ; Chromosome Mapping ; Developmental Biology/*history ; Embryology/*history ; History, 20th Century ; Molecular Biology/*history ; United Kingdom ; }, abstract = {The transformation of embryology to developmental biology has been linked to the introduction of experimental approaches from molecular genetics to the study of development. This paper pursues this theme by analyzing the tools molecular biologists, moving from phage and bacterial genetics to the study of development in higher organisms, brought to their new field of investigations. The paper focuses on Sydney Brenner's move from molecular genetics to developmental biology. His attempt to turn the nematode worm Caenorhabditis elegans into a new tool for the study of development included a vast and ever expanding mapping program. Worm workers themselves did not distinguish sharply between mapping on the cellular, chromosomal or molecular level. Mapping, the paper argues, or more generally 'analytical/comparative' next to 'experimentalist' approaches (Pickstone) were not only part and parcel of Brenner's strategy to 'molecularize' the study of development, but also played a crucial role in 'classical' molecular biology.}, }
@article {pmid12173485, year = {2000}, author = {Amundson, R}, title = {Embryology and evolution 1920-1960: worlds apart?.}, journal = {History and philosophy of the life sciences}, volume = {22}, number = {3}, pages = {335-352}, pmid = {12173485}, issn = {0391-9714}, mesh = {Animals ; *Biological Evolution ; Embryology/*history ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {During the early part of the 20th century most embryologists were skeptical about the significance of Mendelian genetics to embryological development. A few embryologists began to study the developmental effects of Mendelian genes around 1940. Such work was a necessary step on the path to modern developmental biology. It occurred during the time when the Evolutionary Synthesis was integrating Mendelian and population genetics into a unified evolutionary theory. Why did the first embryological geneticists begin their study at that particular time? One possible explanation is that developmental genetics was a potential avenue of alliance between embryology and evolutionary biology, two fields that had been separated since the 1890s. To assess this possible motive it is necessary to explore the methodological contrasts that obtained between embryology and both Mendelian-chromosomal genetics and neo-Darwinian evolutionary theory. Some of these contrasts persist to the present day.}, }
@article {pmid12151876, year = {2002}, author = {Cushing, H}, title = {Hereditary anchylosis of the proximal phalangeal joints (symphalangism). 1915.}, journal = {Clinical orthopaedics and related research}, volume = {}, number = {401}, pages = {4-5; discussion 4}, pmid = {12151876}, issn = {0009-921X}, mesh = {Finger Joint/*abnormalities ; General Surgery/history ; Hand Deformities, Congenital/genetics/*history ; History, 20th Century ; Humans ; United States ; }, }
@article {pmid12051273, year = {2000}, author = {Gobin, A}, title = {[Mendelism in animal breeding as developed by professor Leopold Frateur, Louvain (1877-1946)].}, journal = {Argos (Utrecht, Netherlands)}, volume = {}, number = {23}, pages = {111-118}, pmid = {12051273}, issn = {0923-3970}, mesh = {Animals, Genetically Modified/*genetics ; Belgium ; Breeding/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {Educated as a veterinarian at Cureghem, Leopold Frateur started his scientific career in 1899 as a professor at the Faculty of Sciences of the Catholic University of Louvain, Belgium, in charge of the course in zootechnology. After a study tour to zootechnical institutes and centres of animal breeding in Europe he was invited by the governmental department of Agriculture and the Belgian Society of Zootechnology to investigate the relevance of the Mendelian laws of heredity for the improvement of cattle breeding. In the early years of the century, Frateur conducted field research in order to determine the characteristics of the cattle breeds in Belgium. In 1908 Frateur founded the Institute of Animal Husbandry at his university. Here he worked out his programme of experimental genetics until his retirement in 1936. The last six years of his professorship he teached also agricultural economics in the Faculty of Economical Sciences. In Frateur's experimental research the following main lines can be distinguished: 1) The analysis of simple and complex hereditary factors in cattle, rabbits and poultry; 2) The study of qualitative and quantitative characteristics of importance for the improvement of animal breeds; 3) The synthesis of genetic factors from different stock in order to obtain higher yielding breeds with stable characteristics; 4) Theoretical study of the relationship between genotype and phenotype and the influence of environment factors; 5) Theoretical exploration of the issue of variability and modification of newly formed characteristics; 6) Research leading to an explanation of telegony and atavism; 7) The formulation of a theory on the creation of new breeds in domestic animals and plants, and the relation between breed and species. Also he was responding to topical needs, e.g. he determined the causal factor of pullorum epidemic in chicken farming, or he investigated the hereditary resistance against diphteric infection amongst chickens. Frateur took the theoretical knowledge on heredity as the starting point for practical application in cattle breeding. During and right after W. W. I. he stated that the current scientific knowledge is enough advanced to consider the start of a large breeding programme for the improvement of cattle livestock. In order to realise this reinstatement Frateur received important support from the authorities (Royal Decree, August 1919). From then onwards he focussed his efforts on the realisation of a national framework for improvement of cattle livestock, in collaboration with regional centres and societies for animal selection, breeding and production. Later he also started programmes for the improvement of chicken and pig breeding, again in a joint effort with official consultants and members of breeding societies. He was not only the architect of these programmes, providing the necessary scientific and technical guidance, but he had also a chair in the governing bodies, supervising the execution and control of the breeding programmes. In order to draw a picture of the research community engaged in animal breeding during the first decennia of the 20th century Frateur's contacts through study tours, congresses and learned societies are investigated. The life and work of Frateur is described by the author in two volumes, published in 1999. The second volume consists of a reprint of 50 selected papers on animal breeding.}, }
@article {pmid12044362, year = {2002}, author = {Hagemann, R}, title = {How did East German genetics avoid Lysenkoism?.}, journal = {Trends in genetics : TIG}, volume = {18}, number = {6}, pages = {320-324}, doi = {10.1016/S0168-9525(02)02677-X}, pmid = {12044362}, issn = {0168-9525}, mesh = {Genetics/*history ; Germany, East ; History, 20th Century ; Humans ; USSR ; Universities/history ; }, abstract = {Lysenkoism gained favour in the Soviet Union during the 1930s and 1940s, replacing mendelian genetics. Opponents of Lysenko were dismissed from their jobs, imprisoned and, not infrequently, died. After World War II in some of the East European Soviet satellite states, Lysenkoism became the official genetics supported by the communist authorities, and thus, genetics and biology were set back many years. Yet the uptake of Lysenkoism was not uniform in the Eastern Bloc. The former East Germany (GDR) mostly escaped its influence, owing to the contribution of a few brave individuals and the fact that the country had an open border with the West (West Berlin).}, }
@article {pmid11983439, year = {2002}, author = {Farci, P}, title = {Choo QL, Kuo G, Weiner AJ, Overby LR, Bradley DW, Houghton M. Isolation of a cDNA clone derived from a blood-borne non-A, non-B viral hepatitis genome [Science 1989;244:359-362].}, journal = {Journal of hepatology}, volume = {36}, number = {5}, pages = {582-585}, doi = {10.1016/s0168-8278(02)00051-x}, pmid = {11983439}, issn = {0168-8278}, mesh = {Blood-Borne Pathogens ; Cloning, Molecular ; DNA, Complementary/*history ; *Genome, Viral ; Hepatitis C/genetics/*history ; Hepatitis Viruses/*genetics/isolation &amp; purification ; History, 20th Century ; Humans ; }, }
@article {pmid11921303, year = {2002}, author = {Subak-Sharpe, H and Bürk, RR and Pitts, JD}, title = {Metabolic co-operation between biochemically marked mammalian cells in tissue culture. 1969.}, journal = {Reviews in medical virology}, volume = {12}, number = {2}, pages = {69-78; discussion 79-80}, doi = {10.1002/rmv.342}, pmid = {11921303}, issn = {1052-9276}, mesh = {Animals ; Cell Communication/*physiology ; Cells, Cultured ; Cricetinae ; Fibroblasts/*metabolism ; Gap Junctions/*metabolism ; Genetic Therapy/history ; Herpesviridae/enzymology/genetics ; History, 20th Century ; Humans ; Hypoxanthines/history/metabolism ; Neoplasms/history/therapy ; Rats ; Thymidine Kinase/genetics/history ; Tritium/history/metabolism ; }, }
@article {pmid11783397, year = {2001}, author = {Núñez-Farfán, J and Schlichting, CD}, title = {Evolution in changing environments: the "synthetic" work of Clausen, Keck, and Hiesey.}, journal = {The Quarterly review of biology}, volume = {76}, number = {4}, pages = {433-457}, doi = {10.1086/420540}, pmid = {11783397}, issn = {0033-5770}, mesh = {*Biological Evolution ; Ecosystem ; *Environment ; Genetics, Population/history ; History, 20th Century ; *Plant Physiological Phenomena ; Plants/*classification/genetics ; Selection, Genetic ; }, abstract = {The studies of Clausen, Keck, and Hiesey (CKH) have been widely cited as exemplars of ecotypic differentiation in textbooks and in the primary literature. However, the scope of their findings and achievements is significantly greater than this. In this paper we analyze the research program of CKH, highlighting their major findings during the years when the modern synthesis of evolution was taking shape. That synthesis, curiously, drew little from their examples, although their studies at the Carnegie Institution represent conceptual and methodological work that is still relevant. The works of CKH not only embodied the principles of the nascent synthesis, but often provided needed supporting data. Their classic work, especially on Achillea and Potentilla, produced abundant evidence on population differentiation of many quantitative traits and plant phenotypes, as well as demonstrating the now commonly reported distinction between environmental and genetic determination of traits. Their ecological genetic investigations of quantitative traits in plants were in sharp contrast to contemporaneous animal studies on adaptation that focused on discrete polymorphisms--with correspondingly little influence of the environment on phenotypic expression. Of utmost importance was the demonstration by CKH of adaptive differentiation by natural selection and their approaches to understanding the genetic structure of populations.}, }
@article {pmid11779381, year = {2001}, author = {Taubenberger, JK and Reid, AH and Janczewski, TA and Fanning, TG}, title = {Integrating historical, clinical and molecular genetic data in order to explain the origin and virulence of the 1918 Spanish influenza virus.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {356}, number = {1416}, pages = {1829-1839}, pmid = {11779381}, issn = {0962-8436}, mesh = {Animals ; Biological Evolution ; Disease Outbreaks/*history ; Disease Reservoirs ; Hemagglutinin Glycoproteins, Influenza Virus/genetics ; History, 20th Century ; Humans ; Influenza A virus/*genetics/*pathogenicity ; Influenza, Human/epidemiology/*history/*virology ; Neuraminidase/genetics ; Swine ; Viral Nonstructural Proteins/genetics ; Virulence ; }, abstract = {The Spanish influenza pandemic of 1918-1919 caused acute illness in 25-30% of the world's population and resulted in the death of 40 million people. The complete genomic sequence of the 1918 influenza virus will be deduced using fixed and frozen tissues of 1918 influenza victims. Sequence and phylogenetic analyses of the complete 1918 haemagglutinin (HA) and neuraminidase (NA) genes show them to be the most avian-like of mammalian sequences and support the hypothesis that the pandemic virus contained surface protein-encoding genes derived from an avian influenza strain and that the 1918 virus is very similar to the common ancestor of human and classical swine H1N1 influenza strains. Neither the 1918 HA genes nor the NA genes possessed mutations that are known to increase tissue tropicity, which accounts for the virulence of other influenza strains such as A/WSN/33 or fowl plague viruses. The complete sequence of the nonstructural (NS) gene segment of the 1918 virus was deduced and tested for the hypothesis that the enhanced virulence in 1918 could have been due to type I interferon inhibition by the NS1 protein. The results from these experiments were inconclusive. Sequence analysis of the 1918 pandemic influenza virus is allowing us to test hypotheses as to the origin and virulence of this strain. This information should help to elucidate how pandemic influenza strains emerge and what genetic features contribute to their virulence.}, }
@article {pmid11775608, year = {2001}, author = {Swoboda, KJ and Soong, BW and McKenna, C and Brunt, ER and Litt, M and Bale, JF and Ashizawa, T and Bennett, LB and Bowcock, AM and Roach, ES and Gerson, D and Matsuura, T and Heydemann, PT and Nespeca, MP and Jankovic, J and Leppert, M and Ptácek, LJ}, title = {Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000.}, journal = {Neurology}, volume = {57}, number = {11 Suppl 4}, pages = {S42-8}, pmid = {11775608}, issn = {0028-3878}, mesh = {Chorea/genetics/*history ; Chromosome Mapping/history ; Epilepsy, Benign Neonatal/genetics/*history ; *Genetic Linkage ; History, 20th Century ; Humans ; Pedigree ; }, }
@article {pmid11775599, year = {2001}, author = {Lynch, T and Sano, M and Marder, KS and Bell, KL and Foster, NL and Defendini, RF and Sima, AA and Keohane, C and Nygaard, TG and Fahn, S and Mayeux, R and Rowland, LP and Wilhelmsen, KC}, title = {Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. 1994.}, journal = {Neurology}, volume = {57}, number = {10 Suppl 3}, pages = {S39-45}, pmid = {11775599}, issn = {0028-3878}, mesh = {Chromosome Disorders/genetics/*history ; Chromosomes, Human, Pair 17/*genetics ; Dementia/genetics/*history ; *Genetic Linkage ; History, 20th Century ; Humans ; Parkinsonian Disorders/genetics/*history ; Pedigree ; }, }
@article {pmid11775015, year = {2001}, author = {Jehaes, E and Toprak, K and Vanderheyden, N and Pfeiffer, H and Cassiman, JJ and Brinkmann, B and Decorte, R}, title = {Pitfalls in the analysis of mitochondrial DNA from ancient specimens and the consequences for forensic DNA analysis: the historical case of the putative heart of Louis XVII.}, journal = {International journal of legal medicine}, volume = {115}, number = {3}, pages = {135-141}, doi = {10.1007/s004140100221}, pmid = {11775015}, issn = {0937-9827}, mesh = {Base Sequence ; DNA, Mitochondrial/analysis/*genetics ; *Famous Persons ; *Forensic Anthropology ; France ; Hair/chemistry ; History, 18th Century ; Humans ; Male ; Myocardium/chemistry ; Oligonucleotides ; Pedigree ; Polymerase Chain Reaction/*methods ; Polymorphism, Genetic ; Reproducibility of Results ; Tissue Extracts/analysis ; }, abstract = {Amplification of mtDNA D-loop fragments with a length of 200 bp or more from ancient and even from fairly recent biological samples, can lead to erroneous results. This was clearly illustrated in our investigation of the putative heart of Louis XVII. By selecting different sets of primers which amplified shorter fragments of mtDNA (length 109 bp-201 bp), authentic polymorphisms could be visualised which remained undetected with the more classical primers for fragment sizes > 210 bp. Here we have extended those findings to other biological materials. A competitive PCR assay for quantitation of the amount of mtDNA for different fragment lengths, using a 10 bp deletion construct, was applied to ancient material and on a set of hairs of various ages of sampling (1966 up to the present). The results showed that DNA degradation started a few years after sampling. In the DNA extracts of the older hair shafts (1983-1995), the proportion of the number of short fragments to the number of long fragments is on average 4 in contrast to the most recent hair shafts. The numbers of amplifiable mtDNA copies for the hairs from 1975 and older were too small to show a clear difference. Use of long PCR fragments in such cases can yield misleading results. Use of short PCR fragments for the analysis of mtDNA from shed hair, in combination with a competitive PCR assay to determine the state of degradation, should improve the reliability of forensic mtDNA analysis considerably.}, }
@article {pmid11765946, year = {2000}, author = {Strong, LC}, title = {Genetic nature of the constitutional states of cancer susceptibility and resistance in mice and men. 1945.}, journal = {The Yale journal of biology and medicine}, volume = {73}, number = {1-6}, pages = {265-272}, pmid = {11765946}, issn = {0044-0086}, mesh = {Animals ; Genetic Predisposition to Disease/*history ; History, 20th Century ; Humans ; Mice ; Neoplasms/genetics/*history ; }, }
@article {pmid11750701, year = {2002}, author = {Mazumdar, PM}, title = {'Reform' eugenics and the decline of Mendelism.}, journal = {Trends in genetics : TIG}, volume = {18}, number = {1}, pages = {48-52}, doi = {10.1016/s0168-9525(01)02551-3}, pmid = {11750701}, issn = {0168-9525}, mesh = {Breeding/history ; Eugenics/*history ; Female ; Germany ; History, 20th Century ; Humans ; Male ; Mental Disorders/genetics/history ; Pedigree ; Sterilization, Involuntary/history ; United Kingdom ; United States ; }, abstract = {By the mid-1930s, according to Daniel Kevles, 'mainline eugenics had generally been recognized as a farrago of flawed science.' By then, most geneticists accepted that eugenic sterilization could not rid society of its undesirables. But paradoxically, eugenics still had supporters even among its scientist critics, whom Kevles called 'reform eugenicists'. My opinion is that there was no such sharp turning point in eugenics. Reliance on simple mendelian inheritance faded away, but eugenics continued much as before until after World War II. In this paper, I consider the history of the eugenics movement in terms of its concepts of the inheritance of 'feeble-mindedness' and psychosis as single-gene recessives, and sterilization as a means of control.}, }
@article {pmid11718380, year = {2001}, author = {Pennazio, S and Roggero, P and Conti, M}, title = {A history of plant virology. Mendelian genetics and resistance of plants to viruses.}, journal = {The new microbiologica}, volume = {24}, number = {4}, pages = {409-424}, pmid = {11718380}, issn = {1121-7138}, mesh = {Botany/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/genetics/*virology ; Virology/*history ; }, abstract = {Virology was borne at the end of the nineteenth century, some years before the re-discovery of the so-called "Mendel's Laws". The rapid development of genetics was helpful to horticulturists and plant pathologists to produce hybrids of important cropping species resistant to several virus diseases. The concepts of Mendelian genetics were applied to plant virology by Francis Oliver Holmes, an American scientist who must be considered a pioneer in several fields of modern plant virology. During the Thirties, Holmes studied in particular the hypersensitive response of solanaceous plants to TMV and discovered the N dominant gene of tobacco hypersensitive to this virus. After the Second World War, the theoretic and practical support given by geneticists assisted plant virologists in better understanding the mechanism of inheritance of the character "resistance". The major problems posed by breeding for plant resistance were detected and critically discussed in several reviews published between the Fifties and the Sixties. These results, together with the discovery of the genetic functions of RNA virus raised interest on the possible relations between viral and plant genes. This fundamental subject saw the entry into the virological scene of molecular genetics, and in 1970 the Russian virologist Joseph Atabekov introduced host specificity to viruses as a central point of plant virology. From the mid 1980s, this point attracted the interest of several virologists, and many results led to several theoretic models of genetic interactions between plant and virus products. In the last fifteen years, the introduction of transgenic plants has given a remarkable contribution to the question of host specificity, which, however, still awaits a general explanation.}, }
@article {pmid11699562, year = {2001}, author = {Wheeler, RB and Schlie, M and Kominami, E and Gerhard, L and Goebel, HH}, title = {Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited.}, journal = {Acta neuropathologica}, volume = {102}, number = {5}, pages = {485-488}, doi = {10.1007/s004010100403}, pmid = {11699562}, issn = {0001-6322}, mesh = {Aminopeptidases ; Archives ; Central Nervous System/metabolism/pathology ; DNA Mutational Analysis ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; Endopeptidases ; Humans ; Immunohistochemistry ; Neuronal Ceroid-Lipofuscinoses/*genetics/*pathology ; Neurons/metabolism/pathology ; Peptide Hydrolases/analysis/*genetics ; Serine Proteases ; Tripeptidyl-Peptidase 1 ; }, abstract = {Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. It was originally described by Jansky in a family of eight children with four of them affected [Jansky J (1908) Sborn Lék 13:165-196] and, subsequently, by Bielschowsky in a family of three children each of whom was affected, and, hence, termed Jansky-Bielschowsky type of NCL. Earlier, archival studies of Bielschowsky's original post-mortem tissue blocks had documented accumulation of autofluorescent lipopigments with a curvilinear ultrastructure. In a subsequent study, described here, immunohistochemical absence of the CLN2-related lysosomal enzyme tripeptidyl peptidase-I and two heterozygous mutations in the CLN2 gene could be demonstrated in these archival tissues, further corroborating the identity of Bielschowsky's familial disorder and CLN2 described by M. Bielschowsky at the beginning of the last century. Furthermore, these immunohistochemical and mutational investigations underscore the value of archival tissue studies.}, }
@article {pmid11623812, year = {1999}, author = {Comfort, NC}, title = {"The real point is control": the reception of Barbara McClintock's controlling elements.}, journal = {Journal of the history of biology}, volume = {32}, number = {1}, pages = {133-162}, doi = {10.1023/a:1004468625863}, pmid = {11623812}, issn = {0022-5010}, mesh = {*Gene Expression Regulation ; Genetics/*history ; History, 20th Century ; United States ; Women/*history ; }, abstract = {In the standard narrative of her life, Barbara McClintock discovered genetic transposition in the 1940s but no one believed her. She was ignored until molecular biologists of the 1970s "rediscovered" transposition and vindicated her heretical discovery. New archival documents, as well as interviews and close reading of published papers, belie this narrative. Transposition was accepted immediately by both maize and bacterial geneticists. Maize geneticists confirmed it repeatedly in the early 1950s and by the late 1950s it was considered a classic discovery. But for McClintock, movable elements were part of an elaborate system of genetic control that she hypothesized to explain development and differentiation. This theory was highly speculative and was not widely accepted, even by those who had discovered transposition independently. When Jacob and Monod presented their alternative model for gene regulation, the operon, her controller argument was discarded as incorrect. Transposition, however, was soon discovered in microorganisms and by the late 1970s was recognized as a phenomenon of biomedical importance. For McClintock, the award of the 1983 Nobel Prize to her for the discovery of movable genetic elements, long treated as a legitimation, may well have been bittersweet. This new look at McClintock's experiments and theory has implications for the intellectual history of biology, the social history of American genetics, and McClintock's role in the historiography of women in science.}, }
@article {pmid11619806, year = {1998}, author = {Magnello, ME}, title = {Karl Pearson's mathematization of inheritance: from ancestral heredity to Mendelian genetics (1895-1909).}, journal = {Annals of science}, volume = {55}, number = {1}, pages = {35-94}, doi = {10.1080/00033799800200111}, pmid = {11619806}, issn = {0003-3790}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {Biometry/*history ; Genetics/*history ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; *Pedigree ; Statistics as Topic/*history ; United Kingdom ; }, abstract = {Long-standing claims have been made for nearly the entire twentieth century that the biometrician, Karl Pearson, and colleague, W. F. R. Weldon, rejected Mendelism as a theory of inheritance. It is shown that at the end of the nineteenth century Pearson considered various theories of inheritance (including Francis Galton's law of ancestral heredity for characters underpinned by continuous variation), and by 1904 he 'accepted the fundamental idea of Mendel' as a theory of inheritance for discontinuous variation. Moreover, in 1909, he suggested a synthesis of biometry and Mendelism. Despite the many attempts made by a number of geneticists (including R. A. Fisher in 1936) to use Pearson's chi-square (X2, P) goodness-of-fit test on Mendel's data, which produced results that were 'too good to be true', Weldon reached the same conclusion in 1902, but his results were never acknowledged. The geneticist and arch-rival of the biometricians, Williams Bateson, was instead exceptionally critical of this work and interpreted this as Weldon's rejection of Mendelism. Whilst scholarship on Mendel, by historians of science in the last 18 years, has led to a balanced perspective of Mendel, it is suggested that a better balanced and more rounded view of the hereditarian-statistical work of Pearson, Weldon, and the biometricians is long overdue.}, }
@article {pmid11596979, year = {2001}, author = {Myerowitz, R}, title = {The search for the genetic lesion in Ashkenazi Jews with Classic Tay-Sachs disease.}, journal = {Advances in genetics}, volume = {44}, number = {}, pages = {137-143}, doi = {10.1016/s0065-2660(01)44076-4}, pmid = {11596979}, issn = {0065-2660}, mesh = {Alternative Splicing ; Exons ; Female ; Genotype ; History, 20th Century ; Humans ; Jews/history ; Male ; Models, Genetic ; *Mutation ; Polymerase Chain Reaction/methods ; Tay-Sachs Disease/ethnology/genetics/*history ; }, }
@article {pmid11558852, year = {2001}, author = {Scriver, CR}, title = {Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics.}, journal = {Clinical and investigative medicine. Medecine clinique et experimentale}, volume = {24}, number = {4}, pages = {179-195}, pmid = {11558852}, issn = {0147-958X}, mesh = {Animals ; Awards and Prizes ; *Biochemistry/history ; Canada ; *Genetics/history ; History, 19th Century ; History, 20th Century ; Human Genome Project/history ; Humans ; Metabolism, Inborn Errors/genetics/history ; Phenylketonurias/genetics/history ; Physicians ; *Research Personnel ; Societies, Medical ; Work ; }, abstract = {The pursuit of human biochemical genetics has allowed us to understand better how the person with the (genetic) disease differs from the disease the person has and to develop the concept that genetics belongs in all aspects of health care. It is a perspective that comes quite readily to the clinician-scientist, and the restoration of that "species" in the era of functional genomics is strongly recommended. Garrod, the initial founder of human "biochemical genetics" belonged to the clinician-scientist community. Archibald Edward Garrod introduced a paradigm, new for its day, in medicine: biochemistry is dynamic and different from the static nature of organic chemistry. It led him to think about metabolic pathways and to recognize that variation in Mendelian heredity could explain an "inborn error of metabolism." At the time, Garrod had no idea about the nature of a gene. Genes are now well understood; genomes are being described for one organism after another (including Homo sapiens) and it is understood that genomes "speak biochemistry (not phenotype)." Accordingly, in the era of genomics, biochemistry and physiology become the bases of functional genomics, and it is possible to appreciate why "nothing in biology makes sense without evolution" (and nothing in medicine will make sense without biology). Mendelian, biochemical and molecular genetics together have revealed what lies behind the 4 canonical inborn errors described by Garrod (albinisn, alkaptonuria, cystinuria and pentosuria). Both older and newer ideas in genetics, new tools for applying them (and renewed respect for the clinician-scientist) will enhance our understanding of the human biological variation that accounts for variant states of health and overt disease. A so-called monogenic phenotype (phenylketonuria) is used to illustrate, in some detail, that all disease phenotypes are, in one way or another, likely to be complex in nature. What can be known and what ought to be done, with knowledge about human genetics, to benefit individuals, families and communities (society), is both opportunity and challenge.}, }
@article {pmid11488142, year = {2000}, author = {Rheinberger, HJ}, title = {[Carl Correns' experiments with Pisum, 1896-1899].}, journal = {History and philosophy of the life sciences}, volume = {22}, number = {2}, pages = {187-218}, pmid = {11488142}, issn = {0391-9714}, mesh = {History, 19th Century ; *Hybridization, Genetic ; Peas/*genetics ; *Research Design ; }, abstract = {The circumstances under which classical genetics became established at the turn of the nineteenth century have become an integral part of the standard narrative on the history of genetics. Yet, despite considerable scholarly efforts, it has remained a matter of debate how exactly the so-called 'rediscovery' of Mendel's laws came about around 1900. In this situation, unpublished research records can be invaluable tools to arrive at a more substantial and more satisfying picture of the order of historical events. This paper makes extended use of the research protocols covering Carl Correns' hybridisation experiments with Pisum sativum between 1896 and 1899. The resulting reconstruction sketches the portrait of a scientist following a particular research question--xenia--struggling with his experimental material, and slowly building up an epistemic regime in which questions and observations could acquire a relevance which did not strike Correns when he first took note of them. The microhistorical gaze through the magnifying glass of research notes reveals the kind of delays that appear to be constitutive for empirically-driven thinking in general. The research notes of Correns help not only to make this point, they also display some of the intricacies and material peculiarities which characterise the experimental process of hybridisation and the particular type of inferences it allows one to make.}, }
@article {pmid11441497, year = {2001}, author = {Richmond, ML}, title = {Women in the early history of genetics. William Bateson and the Newnham College Mendelians, 1900-1910.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {92}, number = {1}, pages = {55-90}, doi = {10.1086/385040}, pmid = {11441497}, issn = {0021-1753}, mesh = {England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Women/*history ; }, abstract = {William Bateson was one of the pivotal figures in the early history of genetics, having championed the promise of Mendelism to unravel the secrets of heredity. Many refer to the "school" of genetics he directed at Cambridge between 1900 and 1910, but few note that Bateson's group consisted primarily of women. Bateson turned to botanists, zoologists, and physiologists associated with Newnham College, Cambridge, for critical assistance in advancing his research program at a time when Mendelism was not yet recognized as a legitimate field of study. Cambridge women carried out a series of breeding experiments in a number of plant and animal species between 1902 and 1910, the results of which provided crucial evidence that both supported and extended Mendel's laws of heredity. This essay shows how the situation of women in science in the early twentieth century was a factor--along with scientific, institutional, social, and political developments--in establishing the new discipline of genetics.}, }
@article {pmid11421345, year = {2000}, author = {Morgan, WT and Watkins, WM}, title = {Unravelling the biochemical basis of blood group ABO and Lewis antigenic specificity.}, journal = {Glycoconjugate journal}, volume = {17}, number = {7-9}, pages = {501-530}, pmid = {11421345}, issn = {0282-0080}, mesh = {ABO Blood-Group System/chemistry/genetics/*history ; Alleles ; Animals ; Carbohydrate Sequence ; England ; Female ; Glycosyltransferases/genetics/history/metabolism ; History, 20th Century ; Humans ; Isoantibodies/biosynthesis ; Lewis Blood Group Antigens/chemistry/genetics/*history ; Molecular Sequence Data ; Ovarian Cysts/history/immunology/metabolism ; }, abstract = {The ABO blood-group polymorphism is still the most clinically important system in blood transfusion practice. The groups were discovered in 1900 and the genes at the ABO locus were cloned nearly a century later in 1990. To enable this goal to be reached intensive studies were carried out in the intervening years on the serology, genetics, inheritance and biochemistry of the antigens belonging to this system. This article describes biochemical genetic investigations on ABO and the related Lewis antigens starting from the time in the 1940s when serological and classical genetical studies had established the immunological basis and mode of inheritance of the antigens but practically nothing was known about their chemical structure. Essential steps were the definition of H as the product of a genetic system Hh independent of ABO, and the establishment of the precursor-product relationship of H to A and B antigens. Indirect methods gave first indications that the specificity of antigens resided in carbohydrate and revealed the immunodominant sugars in the antigenic structures. Subsequently chemical fragmentation procedures enabled the complete determinant structures to be established. Degradation experiments with glycosidases revealed how loss of one specificity by the removal of a single sugar unit exposed a new specificity and suggested that biosynthesis proceeded by a reversal of this process whereby the oligosaccharide structures were built up by the sequential addition of sugar units. Hence, the primary blood-group gene products were predicted to be glycosyltransferase enzymes that added the last sugar to complete the determinant structures. Identification of these enzymes gave new genetic markers and eventually purification of the blood-group A-gene encoded N-acetylgalactosaminyltransferase gave a probe for cloning the ABO locus. Blood-group ABO genotyping by DNA methods has now become a practical possibility.}, }
@article {pmid11405353, year = {2001}, author = {Scriver, CR}, title = {Garrod's foresight; our hindsight.}, journal = {Journal of inherited metabolic disease}, volume = {24}, number = {2}, pages = {93-116}, pmid = {11405353}, issn = {0141-8955}, mesh = {Biochemistry/*history ; Genomics ; History, 19th Century ; History, 20th Century ; Humans ; Metabolism, Inborn Errors/*history ; }, abstract = {Archibald Edward Garrod introduced a paradigm, new for its day, in medicine: Biochemistry is dynamic and different from the static nature of organic chemistry. It led him to think about metabolic pathways and to recognize that variation in Mendelian heredity could explain an 'inborn error of metabolism'. At the time, Garrod had no idea about the nature of a gene. Genes are now well understood, genomes are being described for one organism after another (including H. sapiens) and it is understood that genomes 'speak biochemistry (not phenotype)'. Accordingly, in the era of genomics, biochemistry and physiology become the bases of functional genomics and it is possible to appreciate why 'nothing in biology makes sense without evolution' (and nothing in medicine will make sense without biology). Mendelian, biochemical and molecular genetics together have revealed what lies behind the four canonical inborn errors described by Garrod (albinism, alkaptonuria, cystinuria and pentosuria). Both older and newer ideas in genetics, new tools for applying them, and renewed respect for the clinician-scientist will enhance our understanding of the human biological variation that accounts for variant states of health and overt disease; an 'unsimple' phenotype (phenylketonuria) is used to illustrate in some detail. What can be known and what ought to be done with knowledge about human genetics to benefit individuals, families and communities (society) is both opportunity and challenge.}, }
@article {pmid11272129, year = {2001}, author = {Gale, EA}, title = {The discovery of type 1 diabetes.}, journal = {Diabetes}, volume = {50}, number = {2}, pages = {217-226}, doi = {10.2337/diabetes.50.2.217}, pmid = {11272129}, issn = {0012-1797}, mesh = {Animals ; Diabetes Mellitus, Type 1/genetics/*history/immunology ; Disease Models, Animal ; Endocrinology/history ; Genetic Predisposition to Disease ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {The etiological heterogeneity of idiopathic diabetes has been recognized for 25 years, and subdivision into type 1 and type 2 diabetes is fundamental to the way we think about the disease. Review of the literature suggests that the concept of type 1 diabetes as an immunemediated disease emerged rapidly over the period from 1974 to 1976 and showed many of the features of a classic paradigm shift. A few key observations triggered recognition and acceptance of the new paradigm, but the necessary context was provided by scientific developments in areas mainly unrelated to diabetes. The disease paradigm established by 1976 is still widely accepted, and its essential features have been modified only in detail by the revolution in molecular biology that has occurred over the intervening period. Notwithstanding, some of the underlying assumptions remain imprecise, unchallenged, or unconfirmed. Appreciation of the historical origin and subsequent evolution of these fundamental concepts could stimulate critical analysis and help prepare the way for a new paradigm.}, }
@article {pmid11271172, year = {1999}, author = {Dobzhansky, T}, title = {Behavior Genetics Association April 6, 1973. Is genetic diversity compatible with human equality? 1973.}, journal = {Social biology}, volume = {46}, number = {3-4}, pages = {219-227}, pmid = {11271172}, issn = {0037-766X}, mesh = {Aptitude ; *Genetic Variation ; Genetics, Behavioral/*history ; History, 20th Century ; Humans ; Prejudice ; Social Class ; Societies, Scientific/*history ; United States ; }, }
@article {pmid11271171, year = {1999}, author = {Ehrman, L}, title = {Richard H. Osborne, retiring editor: an appreciation, 1977.}, journal = {Social biology}, volume = {46}, number = {3-4}, pages = {192-193}, doi = {10.1080/19485565.1999.9989000}, pmid = {11271171}, issn = {0037-766X}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Periodicals as Topic/*history ; Publishing/history ; Social Sciences/history ; Societies, Scientific/history ; United States ; }, }
@article {pmid11271170, year = {1999}, author = {Notestein, F}, title = {Frederick Osborn, demography's statesman, on his eightieth spring: March, 1969.}, journal = {Social biology}, volume = {46}, number = {3-4}, pages = {179-183}, doi = {10.1080/19485565.1999.9988997}, pmid = {11271170}, issn = {0037-766X}, mesh = {Eugenics/history ; Genetics, Behavioral/history ; Genetics, Population/*history ; History, 20th Century ; Humans ; Social Sciences/history ; Societies, Scientific/history ; United States ; }, }
@article {pmid11269649, year = {2001}, author = {Gulcher, J and Kong, A and Stefansson, K}, title = {The genealogic approach to human genetics of disease.}, journal = {Cancer journal (Sudbury, Mass.)}, volume = {7}, number = {1}, pages = {61-68}, pmid = {11269649}, issn = {1528-9117}, mesh = {Alzheimer Disease/*genetics ; Chromosome Mapping/methods ; Genealogy and Heraldry ; Genetic Linkage ; Genetic Markers ; Genetics, Medical/*methods ; Genetics, Population ; Humans ; Osteoarthritis/*genetics ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Stroke/*genetics ; }, abstract = {The goal of modern human genetics is to correlate genes with disease or, more specifically, relate genetic variation to phenotypic variation. Although this correlation is usually straightforward in the Mendelian disorders, it has proved to be much more difficult to find in the common diseases because they appear to be more complex, likely involving an interplay among multiple genes and between genes and the environment. Although the strategy of linkage mapping of families was very successful when it was applied to the rare monogenic diseases, few common diseases have been mapped to statistical significance. Many investigators are now abandoning linkage analysis altogether and are moving to a candidate gene case-control strategy. In this article, we describe a genealogic approach to mapping human disease genes and provide three examples of how we have used it to map common diseases to statistical significance. We focus on a simple population with little historic migration and use a computerized genealogy database to increase the number of patients who can be compared with other affected relatives through high-density microsatellite genotyping. The genealogy helps determine which phenotypic classification is inherited and therefore possible to map. It may represent a more efficient strategy than candidate gene case-control studies for determination of what alleles or haplotypes are shared by patients in a population. We suggest that the genetics community not give up on linkage analysis, nor should it assume that the common diseases are too complex to map.}, }
@article {pmid11253150, year = {2001}, author = {Kerber, RA and O'Brien, E and Smith, KR and Cawthon, RM}, title = {Familial excess longevity in Utah genealogies.}, journal = {The journals of gerontology. Series A, Biological sciences and medical sciences}, volume = {56}, number = {3}, pages = {B130-9}, doi = {10.1093/gerona/56.3.b130}, pmid = {11253150}, issn = {1079-5006}, support = {AG13478/AG/NIA NIH HHS/United States ; K01 AG00767/AG/NIA NIH HHS/United States ; R29CA69421/CA/NCI NIH HHS/United States ; }, mesh = {Aged ; Cohort Studies ; *Genealogy and Heraldry ; Humans ; Longevity/*genetics ; Models, Biological ; Utah ; }, abstract = {We evaluated the influence of family history on longevity by examining longevity in a cohort of 78,994 individuals drawn from the Utah Population Database (UPDB) who were born between 1870 and 1907, and lived to at least age 65. We examined Mendelian genetic and social modes of transmission of excess longevity (the difference between observed and expected longevity) by varying weighted kinship contributions over different classes of relatives. The genetic component of the variation in excess longevity measured as heritability, h2, was approximately 0.15 (95% confidence interval [CI] 0.12-0.18). Among siblings of probands who reached the 97th percentile of excess longevity (+ 14.8 years, currently age 95 for men and 97 for women), the relative risk of recurrence (lambdas) was 2.30 (95% CI 2.08-2.56). In sibships whose relatives were in the top 15% of the distribution for familial excess longevity, the value of lambdas increased substantially, indicating that considering the longevity of distant relatives may be helpful in the selection of families in which to identify genes influencing aging and longevity.}, }
@article {pmid11252224, year = {2000}, author = {Ivanov, VI and Liapunova, IA}, title = {[Nikolaĭ Vladimirovich Timofeev-Resovskiĭ (1900-1981). (Essay on his life and works)].}, journal = {Radiatsionnaia biologiia, radioecologiia}, volume = {40}, number = {5}, pages = {485-494}, pmid = {11252224}, issn = {0869-8031}, mesh = {History, 20th Century ; Radiobiology/history ; Russia ; }, abstract = {The article contains a brief review of the basic works (1925-1981) written by Nikolay V. Timofeeff-Ressovsky--one of the famous geneticist of the elapsing century, the founder of radiobiology and radiation genetics, biocenology and radioecology, a prominent evolutionary biologist. In genetics, his name is associated with the development of fundamental problems of population genetics, phenogenetics, gene interaction and investigations of the role of environmental and genetic factors in expression of different characters. Timofeeff-Ressovsky classical works on mutagenesis process and especially, radiation mutagenesis, promoted penetration of methods and approaches applied in molecular physics and chemistry, into genetic analysis, and accelerated forming of the modern molecular genetics. A special place in the development of population genetics is occupied by the hypothesis of microevolutionary process developed by Nikolay V. Timofeeff-Ressovsky along with other famous biologists in the end of the 30-ies. This hypothesis connected Darwin's evolutionary theory with rapidly developing concepts of genetics. In the last years of his life, Timofeeff-Ressovsky was especially interested in a global problem which was called by him "The Biosphere and Humanity". Here was especially strikingly shown the broadness of his approach to the analysis of the biosphere phenomena in the best traditions of the Russian natural science. In the course of time, the wealth of Nikolay V. Timofeeff-Ressovsky's scientific heritage not only remains valuable, but also takes on more profundity and value.}, }
@article {pmid11241752, year = {2001}, author = {Murillo-González, J}, title = {Evolution of embryology: a synthesis of classical, experimental, and molecular perspectives.}, journal = {Clinical anatomy (New York, N.Y.)}, volume = {14}, number = {2}, pages = {158-163}, doi = {10.1002/1098-2353(200103)14:2&lt;158::AID-CA1025&gt;3.0.CO;2-Q}, pmid = {11241752}, issn = {0897-3806}, mesh = {Embryology/*history ; Evolution, Molecular ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Middle Aged ; Models, Theoretical ; }, abstract = {Embryology as a modern science began at the beginning of the 19th century and continued as the classic period until the 1940s. During this period, a body of basic knowledge was established which, generally, described the events of development. From 1940 to 1970 experimental or causal embryology predominated; explanations of secondary causes were demonstrated for development. The decade of the 1970s was a decade of transition that led to the current revolution in molecular biology that began in the 1980s. Molecular biology and its new branch, molecular genetics, shook up the heretofore serene, but already limited, field of embryology. Today the discipline of embryology is being built on the analysis of the results of genetic expression. Embryology is now concerned with understanding development from the viewpoint of the activation and transcription of DNA sequences, which will allow us to approach the first causes or underlying genetic and epigenetic mechanisms of development. As a result, embryology and genetics have fused into a wider biological subdiscipline, developmental biology. Will this be enough to define the full scope of our knowledge of embryonic development? What is certainly evident is that the molecular period of embryology will help achieve a better understanding of the schemata constructed by classic and experimental embryologists. Furthermore, to the degree that the molecular analysis of whatever phenomenon of development requires additional foundational knowledge, classic and experimental embryology will not have exhausted all their possibilities.}, }
@article {pmid11232352, year = {2000}, author = {Lanska, DJ}, title = {George Huntington (1850-1916) and hereditary chorea.}, journal = {Journal of the history of the neurosciences}, volume = {9}, number = {1}, pages = {76-89}, doi = {10.1076/0964-704X(200004)9:1;1-2;FT076}, pmid = {11232352}, issn = {0964-704X}, mesh = {Disease Progression ; Eponyms ; Female ; Genes, Dominant ; Genetic Predisposition to Disease ; History, 19th Century ; History, 20th Century ; Humans ; Huntington Disease/diagnosis/epidemiology/genetics/*history ; Male ; United States/epidemiology ; }, abstract = {Although Huntington's disease has existed since at least the seventeenth century, and although several physicians provided earlier descriptions of hereditary chorea, Huntington's disease was not generally recognized until the classic description by George Huntington (1850-1916) in 1872. This paper--on the sesquicentennial of Huntington's birth--reviews Huntington's original and later contributions to the description of this disorder, his professional presentations and correspondence on the topic, and his publications, as well as his background, medical training, and clinical practice. The characteristics of Huntington's disease recognized by George Huntington in 1872--i.e., the distinct clinical profile, midlife onset, and autosomal dominant inheritance pattern--made the disease ideal for investigation by genetic linkage analysis a century after Huntington's description. Subsequent breakthroughs have identified the genetic defect as an unstable expanded CAG trinucleotide repeat mutation in a novel gene on the short arm of chromosome 4. The rapidity of recent discoveries bodes well for further significant progress in understanding, and hopefully treating, this profoundly debilitating neurodegenerative disorder.}, }
@article {pmid11221257, year = {2000}, author = {Crick, F}, title = {[Molecular biology in the year 2000. 1970].}, journal = {Bioorganicheskaia khimiia}, volume = {26}, number = {10}, pages = {756-760}, pmid = {11221257}, issn = {0132-3423}, mesh = {*Forecasting ; History, 20th Century ; Molecular Biology/*history/trends ; }, }
@article {pmid11218080, year = {2000}, author = {Hagemann, R}, title = {Erwin Baur or Carl Correns: who really created the theory of plastid inheritance?.}, journal = {The Journal of heredity}, volume = {91}, number = {6}, pages = {435-440}, doi = {10.1093/jhered/91.6.435}, pmid = {11218080}, issn = {0022-1503}, mesh = {History, 20th Century ; *Models, Genetic ; Plastids/*genetics ; Research ; Rosales/genetics ; }, abstract = {Historical reviews of the field of non-Mendelian genetics and many other publications credit Erwin Baur and Carl Correns equally for the development of the theory of plastid inheritance. However, a study of the original literature indicates that this conclusion is not correct. Analysis of the relevant articles leads to the conclusion that Baur alone deserves credit for the theory of plastid inheritance. In his classic article on the inheritance properties of white-margined Pelargonium plants, Baur (1909) stated: (1) The plastids are carriers of hereditary factors which are able to mutate. (2) In variegated plants, random sorting-out of plastids is taking place. (3) The genetic results indicate a biparental inheritance of plastids by egg cells and sperm cells in Pelargonium. By contrast, Correns held the view that in variegated plants there is a maternally transmitted labile state of the cytoplasm which switches either to a permanently "healthy" state (allowing the "indifferent" plastids to become green chloroplasts) or to a permanently "diseased, ill" cytoplasmic state (causing white plastids and cells). Otto Renner supported Baur's theory and worked out important characteristics of plastid inheritance in the genus Oenothera. In the 1930s Renner reported many more observations, which established plastid inheritance as a widely accepted genetic theory.}, }
@article {pmid11187030, year = {2000}, author = {Chow, LC and Gelinas, RE and Broker, TR and Roberts, RJ}, title = {An amazing sequence arrangement at the 5' ends of adenovirus 2 messenger RNA. 1977.}, journal = {Reviews in medical virology}, volume = {10}, number = {6}, pages = {362-71; discussion 355-6}, pmid = {11187030}, issn = {1052-9276}, mesh = {Adenoviruses, Human/*genetics ; Capsid/genetics ; *Capsid Proteins ; History, 20th Century ; RNA, Messenger/*history/ultrastructure ; RNA, Viral/*history/ultrastructure ; *Transcription, Genetic ; }, }
@article {pmid11151057, year = {2001}, author = {Kalow, W}, title = {Perspectives in pharmacogenetics.}, journal = {Archives of pathology &amp; laboratory medicine}, volume = {125}, number = {1}, pages = {77-80}, doi = {10.5858/2001-125-0077-PIP}, pmid = {11151057}, issn = {0003-9985}, mesh = {Canada ; Ethnicity/genetics/history ; Genetic Variation ; Genetics, Population/history ; Genotype ; History, 20th Century ; Humans ; Pharmaceutical Preparations/history/metabolism ; Pharmacogenetics/*history ; Phenotype ; }, abstract = {The historical perspective of pharmacogenetics is presented to a large extent from a personal view, since I happened to get into this field of science at the time of its beginning, and since pharmacogenetics has remained the backbone of my scientific career. Pharmacogenetics initially emphasized observations of interpersonal variability, but the attention on interethnic differences soon followed. Technical advances led to the identification of many responsible gene alterations in both individuals and in populations. Included is a relatively extensive discussion in which the effects and the different consequences of monogenic (mendelian) and multigenic (multifactorial) variation are compared.}, }
@article {pmid11147100, year = {2000}, author = {Dietrich, MR}, title = {The problem of the gene.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1139-1146}, doi = {10.1016/s0764-4469(00)01257-9}, pmid = {11147100}, issn = {0764-4469}, mesh = {Animals ; Drosophila melanogaster/genetics ; Genetics/*history/trends ; History, 20th Century ; Humans ; Politics ; United States ; }, abstract = {During the early 20th century the diverse practices of genetics were unified by the concept of the gene. This classical gene was simultaneously a unit of structure, function, mutation, and recombination. Starting in the 1940s, however, the classical gene began to fragment. Today when we speak of a gene for some malady, a regulatory gene, a structural gene, or a gene frequency, it is entirely possible that we are deploying different gene concepts even though we are using the same term. The problem of the gene addresses the fragmentation of the classical gene concept by asking to what extent a comprehensive and unifying gene concept is possible or desirable. Fully comprehensive gene concepts seem untenable today, but, within different disciplinary domains, unifying, but non-comprehensive, gene concepts can be epistemically worthwhile. The problem of the gene persists, however, not because of its epistemic value, but because of its political value. Using both the arguments for newly proposed gene concepts and the historical dispute over the classical gene, I argue that the desirability of gene concepts rests in part on the political ramifications of their deployment and contestation.}, }
@article {pmid11147099, year = {2000}, author = {Burian, RM}, title = {On the internal dynamics of Mendelian genetics.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1127-1137}, doi = {10.1016/s0764-4469(00)01248-8}, pmid = {11147099}, issn = {0764-4469}, mesh = {Animals ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Phenotype ; Plants/genetics ; }, abstract = {This paper offers a revisionist account of the development of Mendelian genetics, focusing on the 'problem of the gene', 1900-1930. I examine conflicting claims about the composition, location, and action of genes posed by Bateson, the Morgan group, and Goldschmidt. Their research programs focused on different phenotypes and were based on different assumptions about the nature of genes. The problem of the gene transcended such specific research programs, but their findings had to be taken into account to solve it. The need to resolve conflicting claims drove Mendelian geneticists to exploit the resources and invade the turf of other disciplines in their search for a sound characterization of the gene. The problem of reconciling conflicting views greatly influenced the development of genetics and provided the stimulus for many of the discoveries made by geneticists from 1900 to 1940.}, }
@article {pmid11147098, year = {2000}, author = {Gaudillière, JP}, title = {Mendelism and medicine: controlling human inheritance in local contexts, 1920-1960.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1117-1126}, doi = {10.1016/s0764-4469(00)01268-3}, pmid = {11147098}, issn = {0764-4469}, mesh = {Animals ; Eugenics/history ; France ; Genetic Diseases, Inborn/genetics/history ; Genetics/*history ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; Pediatrics/history ; Plants/genetics ; United Kingdom ; }, abstract = {The rise of Mendelism has often been associated with the development of agricultural sciences and the attempts to improve varieties and select new plants. In contrast, historians have tended to stress the tensions between Mendelism and medicine originating in the influence of eugenicists. The use of Mendel's laws in the context of discussing human inheritance and the transmission of pathologies was nonetheless pervading the medical literature from the 1920s onwards. This paper investigates the dynamics of medical Mendelism by comparing developments in France and in Britain. In contrast to reluctant botanists and zoologists, the elite of the French medical profession was often 'Mendelian'. Mendel's laws have accordingly been integrated into a complex approach to the familial transmission of pathologies, into a theory of pathological inheritance, which combined genetics, germ theory and hygiene. This approach was widely accepted among the paediatricians and obstetricians active in both the eugenics movement and the natalist movement. The career of the pediatrician R. Turpin is a good example of the visibility of this form of medical Mendelism and of its long-lasting impact on genetic research in the country. In Britain, where the social basis of eugenics was not the medical profession, eugenics' claims often clashed with public health and hygiene priorities. Medical Mendelism was in the first place supported and advanced by doctors and scientists participating in the public debates about the care of 'feeble minded' and the classification of social groups. As revealed by the trajectory of L. Penrose this context favoured the linkage between statistics and pedigree analysis, thus leading to the 'Mendelization' of human pathologies. After the war, this Mendelization in turn facilitated the rise of medical genetics as a speciality focusing on genetic counselling and on the management of computable hereditary risks. This comparative analysis thus highlights: a) the influence of local medical cultures on the fate of Mendelism; b) the continuities between the pre-war studies of pathological inheritance and the post-war rise of medical genetics.}, }
@article {pmid11147097, year = {2000}, author = {Roll-Hansen, N}, title = {Theory and practice: the impact of Mendelism on agriculture.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1107-1116}, doi = {10.1016/s0764-4469(00)01259-2}, pmid = {11147097}, issn = {0764-4469}, mesh = {Agriculture/*history ; Animal Husbandry/history ; Animals ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; Sweden ; }, abstract = {The purpose of this paper is a reexamination of the success story of how Mendelian genetics gave birth to a revolution in plant and animal breeding which produced the spectacular 20th century agricultural progress and made it possible to feed the exploding population of the Earth. Critics have pointed to the problematic social effect of the agricultural revolution, and they have doubted the importance of the new genetics, especially during the first three or four decades of the 20th century. This paper argues that the criticism has tended to take a narrow instrumental view of science underestimating the guiding role of theory in practical matters. Plant and animal breeding continued to depend mainly on the old 19th century techniques, hybridization, mass selection and individual selection. But they were combined and used in much more efficient ways than before. New theoretical knowledge, general theories as well as particular knowledge about species, strains and individuals, radically improved the planning and execution of breeding work.}, }
@article {pmid11147096, year = {2000}, author = {Gayon, J and Burian, RM}, title = {France in the era of Mendelism (1900-1930).}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1097-1106}, doi = {10.1016/s0764-4469(00)01251-8}, pmid = {11147096}, issn = {0764-4469}, mesh = {Animals ; Biology/history ; Eugenics/history ; France ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Plants/genetics ; Research/history ; }, abstract = {This paper describes and explains the reception of Mendelism among French biologists at the beginning of the 20th Century. Three dimensions of description must be taken into account: scholarly diffusion; transmission of the new science through teaching and textbooks; and effective research. These three axes of description do not provide the same picture: Mendelian research was widely reported among specialists; no significant teaching of Mendelism took place in the years 1900-1930; by 1930 only one biologist, Lucien Cuénot, had carried out significant genetic research, but he abandoned his Mendelian research in 1914. The resistance to Mendelism can be attributed to four categories of factors, none of which is sufficient. The first category includes a series of intellectual factors: a massively positivist conception of science, an approach to heredity that privileged a 'physiological' theory, and a poor development of cytology. The second set of factors stems from the failure of French academic biologists to establish a strong interaction with plant and animal breeding. The third factor is the relatively weak influence of the eugenic ideology in France. Finally, the particular organization of French universities, together with the deaths of numerous young scientists during World War I, amplified the effects of the previous factors.}, }
@article {pmid11147095, year = {2000}, author = {Rheinberger, HJ}, title = {Mendelian inheritance in Germany between 1900 and 1910. The case of Carl Correns (1864-1933).}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1089-1096}, doi = {10.1016/s0764-4469(00)01267-1}, pmid = {11147095}, issn = {0764-4469}, mesh = {Fertilization ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Peas/genetics/physiology ; Plants/*genetics ; Zea mays/genetics/physiology ; }, abstract = {Carl Correns (1864-1933) came to recognize Mendel's rules between 1894 and 1900 while trying to find out the mechanism of xenia, that is, the direct influence of the fertilizing pollen on the mother plant in maize and peas among other species. In this paper, I am concerned with the ten years of Correns' work after the annus mirabilis of 1900 until 1910, when the main outlines of the new science of genetics had been established. It is generally assumed that after 1900 Correns quickly began probing the limits of Mendelian inheritance, both as far as the explanatory force of formal transmission genetics and the generality of Mendel's laws are concerned. A careful examination of his papers however shows that he was much more interested in the scope of Mendelian inheritance than in its limits. Even his work with variegated Mirabilis plants, which historiographical folklore still presents as a result of Correns' growing interest in cytoplasmic inheritance, can be shown to have been conducted to corroborate just the opposite, namely, the validity of the nuclear paradigm. The paper will show that Correns' research results in those years (among them the Mendelian inheritance of sex in higher plants) were the outcome of a complex experimental program which involved breeding experiments with dozens of different species.}, }
@article {pmid11147094, year = {2000}, author = {Allen, GE}, title = {The reception of Mendelism in the United States, 1900-1930.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1081-1088}, doi = {10.1016/s0764-4469(00)01254-3}, pmid = {11147094}, issn = {0764-4469}, mesh = {Animal Husbandry/history ; Animals ; Biology/*history ; Breeding/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/genetics ; United States ; }, abstract = {Scholars have differed on the question of why Mendel's work was neglected between 1865 and 1900, and the (by contrast) relatively rapid acceptance of Mendelism in many countries after 1900. This paper focuses on two factors that have not been well explored in the debate. The first is that Mendelism fit perfectly into the atomistic philosophy associated with mechanistic materialism in western science, and thus was strongly promoted by a younger group of biologists around 1900 to raise the prestige of biology to the rigorous level of the physical sciences. The second factor was that Mendelian theory, with its experimental and predictive qualities, fit well into the new demands for industrialization of agriculture both to feed a growing urban population and to provide an arena for capital expansion. This paper proposes that the early promotion of Mendelian research, by both private and public funds, owed as much to economic and social as to biological causes.}, }
@article {pmid11147090, year = {2000}, author = {Olby, R}, title = {Mendelism: from hybrids and trade to a science.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1043-1051}, doi = {10.1016/s0764-4469(00)01253-1}, pmid = {11147090}, issn = {0764-4469}, mesh = {Austria ; England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Hybridization, Genetic ; Plants/*genetics ; }, abstract = {In this paper I explore the historical context in which news of the rediscovery of Mendel's laws was received in England. This exploration leads me to the Cambridge zoologist, William Bateson, to his exploitation of the prestige and support of the Royal Horticultural Society, and to his interaction with certain of the leading horticultural tradesmen prominent in that society. I argue that the policy of the RHS in the 1890s to promote hybridisation rather than plant collecting was of crucial importance in bringing about a productive symbiosis between Bateson and his circle and the horticultural community. I look for parallels between the aims of the horticulturists and the character of the Mendelian programme as it is represented in Bateson's foundational text: Mendel's Principles of Heredity (1909).}, }
@article {pmid11114075, year = {2000}, author = {Berget, SM and Moore, C and Sharp, PA}, title = {Spliced segments at the 5' terminus of adenovirus 2 late mRNA. 1977.}, journal = {Reviews in medical virology}, volume = {10}, number = {6}, pages = {356-62; discussion 355-6}, pmid = {11114075}, issn = {1052-9276}, mesh = {Adenoviruses, Human/*genetics ; Capsid/genetics ; *Capsid Proteins ; History, 20th Century ; RNA Splicing ; RNA, Messenger/*history/ultrastructure ; RNA, Viral/*history/ultrastructure ; *Transcription, Genetic ; }, }
@article {pmid11039746, year = {2000}, author = {Avery, OT and Macleod, CM and McCarty, M}, title = {Studies on the chemical nature of the substance inducing transformation of pneumococcal types: Induction of transformation by a desoxyribonucleic acid fraction isolated from Pneumococcus type III. Oswald Theodore Avery (1877-1955).}, journal = {Clinical orthopaedics and related research}, volume = {}, number = {379 Suppl}, pages = {S3-8}, doi = {10.1097/00003086-200010001-00002}, pmid = {11039746}, issn = {0009-921X}, mesh = {DNA, Bacterial/*genetics ; History, 20th Century ; Humans ; Streptococcus pneumoniae/*genetics ; *Transformation, Bacterial ; }, }
@article {pmid11036695, year = {2000}, author = {Fiechter, A}, title = {Biotechnology in Switzerland and a glance at Germany.}, journal = {Advances in biochemical engineering/biotechnology}, volume = {69}, number = {}, pages = {175-208}, doi = {10.1007/3-540-44964-7_7}, pmid = {11036695}, issn = {0724-6145}, mesh = {Agriculture ; Animals ; Anti-Bacterial Agents ; Bioreactors ; Biotechnology/*history/legislation &amp; jurisprudence/organization &amp; administration ; Conservation of Natural Resources ; Dairy Products/microbiology ; Fermentation ; Genetic Engineering ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; *Research ; Switzerland ; Technology, Pharmaceutical/history ; }, abstract = {The roots of biotechnology go back to classic fermentation processes, which starting from spontaneous reactions were developed by simple means. The discovery of antibiotics made contamination-free bioprocess engineering indispensable, which led to a further step in technology development. On-line analytics and the use of computers were the basis of automation and the increase in quality. On both sides of the Atlantic, molecular biology emerged at the same time, which gave genetic engineering in medicine, agriculture, industry and environment new opportunities. The story of this new advanced technology in Switzerland, with a quick glance at Germany, is followed back to the post-war years. The growth of research and teaching and the foundation of the European Federation of Biotechnology (EFB) are dealt with. The promising phase of the 1960s and 1970s soon had to give way to a restrictive policy of insecurity and anxiousness, which, today, manifests itself in the rather insignificant contributions of many European countries to the new sciences of genomics, proteomics and bioinformatics, as well as in the resistance to the use of transgenic agricultural crops and their products in foods.}, }
@article {pmid11036462, year = {2000}, author = {Severtsov, SA}, title = {[The quantitative characteristics of animal adaptivity and the types of population dynamics in higher vertebrates. 1942].}, journal = {Zhurnal obshchei biologii}, volume = {61}, number = {5}, pages = {503-524}, pmid = {11036462}, issn = {0044-4596}, mesh = {*Adaptation, Biological ; Animals ; Female ; History, 20th Century ; Male ; Population Dynamics ; Selection, Genetic ; Vertebrates/*physiology ; }, }
@article {pmid11036461, year = {2000}, author = {Rapoport, IA}, title = {[A phenogenetic analysis of discreteness. 1941].}, journal = {Zhurnal obshchei biologii}, volume = {61}, number = {5}, pages = {492-502}, pmid = {11036461}, issn = {0044-4596}, mesh = {Animals ; Drosophila melanogaster/drug effects/embryology/genetics ; Embryology/*history ; History, 20th Century ; Morphogenesis/drug effects/genetics ; Phenotype ; }, }
@article {pmid11036460, year = {2000}, author = {Kirpichnikov, VS}, title = {[The significance of adaptive modifications in evolution. 1940].}, journal = {Zhurnal obshchei biologii}, volume = {61}, number = {5}, pages = {466-491}, pmid = {11036460}, issn = {0044-4596}, mesh = {*Adaptation, Biological ; Animals ; *Biological Evolution ; Genetic Variation ; History, 20th Century ; Selection, Genetic ; }, }
@article {pmid11036459, year = {2000}, author = {Shmal'gauzen, II}, title = {[The struggle for the existence and divergence of traits. 1940].}, journal = {Zhurnal obshchei biologii}, volume = {61}, number = {5}, pages = {455-465}, pmid = {11036459}, issn = {0044-4596}, mesh = {Adaptation, Biological ; Animals ; *Biological Evolution ; History, 20th Century ; Selection, Genetic ; }, }
@article {pmid10973065, year = {2000}, author = {Veuille, M}, title = {1900-2000: how the mendelian revolution came about. The rediscovery of Mendel's laws (1900), International Conference, Paris, 23-25 March 2000.}, journal = {Trends in genetics : TIG}, volume = {16}, number = {9}, pages = {380}, doi = {10.1016/s0168-9525(00)02070-9}, pmid = {10973065}, issn = {0168-9525}, mesh = {Animals ; Breeding/history ; Genetics/*history ; History, 20th Century ; }, }
@article {pmid10835762, year = {1999}, author = {Cruz-Coke, R}, title = {[The history of genetics in Latin American countries during the twentieth century].}, journal = {Revista medica de Chile}, volume = {127}, number = {12}, pages = {1524-1532}, pmid = {10835762}, issn = {0034-9887}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; Humans ; Latin America ; Nobel Prize ; }, abstract = {The aim of this historical review is to evaluate the evolution of genetics in the context of Latin American scientific culture, to value foreign influences and to highlight the discoveries and contributions of Latin American geneticists. During the first third of the twentieth century, local naturalists, botanists and physicians understood the chromosomal theory of heredity and Mendelian theory of evolution and begun research and teaching on these new theories and technologies. During the thirties and forties, North American geneticists visited South America and formed development poles on cytogenetics and population genetics in Brazil and Argentina. During the fifties and sixties, human genetics was formally established in Brazil, Argentina and Chile. Genetics teaching became generalized in universities and national Genetics Societies were formed. In 1969, the Latin American Genetics Society was created, unifying the efforts of zoologists, botanists, physicians and anthropologists in an unique Latin American cultural space, organizing 11 meetings between 1972 and 1994. Latin Americans have made a great contribution in genome discovery of animal, vegetable and human species in their territory. They explored the great genetic diversity of the continent, discovering new genes and diseases. The biomedical area had the greatest development. In 1997, there were 130 medical genetics centers, 120 hospitals specialized in congenital malformations, 56 molecular biology centers and 26 molecular genetics centers. At the end of the twentieth century, human genetics is completely integrated to medical sciences in Latin America.}, }
@article {pmid10824193, year = {2000}, author = {Hiraiwa-Hasegawa, M}, title = {The sight of the peacock's tail makes me sick: the early arguments on sexual selection.}, journal = {Journal of biosciences}, volume = {25}, number = {1}, pages = {11-18}, pmid = {10824193}, issn = {0250-5991}, mesh = {Animals ; *Biological Evolution ; Birds ; Choice Behavior ; Female ; Genetics, Population/history ; History, 19th Century ; History, 20th Century ; Humans ; Male ; *Models, Biological ; *Selection, Genetic ; Sex Characteristics ; Sexual Behavior, Animal/*physiology ; }, abstract = {Why does a peacock have a beautiful train, while a peahen is sober without such flamboyance? Darwin proposed the theory of sexual selection to explain the differences between the sexes of the same species. Recently the study of sexual selection has been one of the most flourishing areas in evolutionary biology. However, the theory met with great resistance from biologists since the publication of the idea and the history of the theory included a lot of misunderstanding and confusion. There are several reasons for this. First, classical Darwinism failed to recognize social competition as an important selective force. Second, the good-for-the-species argument, which persisted in the days after Darwin, made the sexual selection argument more difficult to under-stand. Compared to the discussions on animals, Darwin's argument on human sex differences is not satisfactory. The reason probably lies in the debate over human racial differences which prevailed in the 19th century.}, }
@article {pmid10820966, year = {2000}, author = {Rushton, AR}, title = {Nettleship, Pearson and Bateson: the biometric-Mendelian debate in a medical context.}, journal = {Journal of the history of medicine and allied sciences}, volume = {55}, number = {2}, pages = {134-157}, doi = {10.1093/jhmas/55.2.134}, pmid = {10820966}, issn = {0022-5045}, mesh = {England ; Eye Diseases, Hereditary/genetics/*history ; Genetic Diseases, Inborn/genetics/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, }
@article {pmid10763434, year = {2000}, author = {Lherminer, P and Solignac, M}, title = {[Species: author definitions].}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {2}, pages = {153-165}, doi = {10.1016/s0764-4469(00)00119-0}, pmid = {10763434}, issn = {0764-4469}, mesh = {Animals ; Biology/history ; *Classification ; Ecosystem ; Genetics, Population ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; History, Medieval ; *Phylogeny ; Species Specificity ; }, abstract = {For a long time the definitions of species have been mainly restricted to logicians and philosophers; with the contribution of biologists, the number of concepts increased dramatically. The concepts elaborated by authors of the evolutionary synthesis seemed decisive for a time but the number of definitions proposed was never as high as in the last half century. In the present review, a list of classical or less well-known definitions are proposed with some commentaries.}, }
@article {pmid10730076, year = {2000}, author = {Romics, I and Nagy, F}, title = {[Enuresis. 1925].}, journal = {Orvosi hetilap}, volume = {141}, number = {8}, pages = {407-410}, pmid = {10730076}, issn = {0030-6002}, mesh = {Enuresis/etiology/genetics/*history ; History, 20th Century ; Humans ; Hungary ; }, }
@article {pmid10699861, year = {2000}, author = {Domach, MM and Leung, SK and Cahn, RE and Cocks, GG and Shuler, ML}, title = {Computer model for glucose-limited growth of a single cell of Escherichia coli B/r-A. Reprinted from Biotechnology and Bioengineering, Vol. 26, Issue 3, Pp 203-216 (1984).}, journal = {Biotechnology and bioengineering}, volume = {67}, number = {6}, pages = {827-840}, doi = {10.1002/(sici)1097-0290(20000320)67:6&lt;827::aid-bit18&gt;3.0.co;2-n}, pmid = {10699861}, issn = {0006-3592}, mesh = {Computer Simulation/*history ; DNA Replication ; Escherichia coli/genetics/*growth &amp; development/metabolism ; Glucose/*history/metabolism ; History, 20th Century ; Protein Biosynthesis ; Transcription, Genetic ; }, abstract = {A computer model is described which is capable of predicting changes in cell composition, cell size, cell shape, and the timing of chromosome synthesis in response to changes in external glucose limitation. The model is constructed primarily from information on unrestricted growth in glucose minimal medium. The ability of the model to make reasonable quantitative predictions under glucose-limitation is a test of the plausibility of the basic biochemical mechanisms included in the model. Such a model should be of use in differentiating among competing hypotheses for biological mechanisms and in suggesting as yet unobserved phenomena. The last two points are illustrated with the testing of a mechanism for the control of the initiation of DNA synthesis and predictions on cell-width variations during the division cycle.}, }
@article {pmid10699859, year = {2000}, author = {Lee, SB and Bailey, JE}, title = {Analysis of growth rate effects on productivity of recombinant Escherichia coli populations using molecular mechanism models. Reprinted from Biotechnology and Bioengineering, Vol. 26, Issue 1, Pages 66-73 (1984).}, journal = {Biotechnology and bioengineering}, volume = {67}, number = {6}, pages = {805-812}, doi = {10.1002/(sici)1097-0290(20000320)67:6&lt;805::aid-bit16&gt;3.0.co;2-0}, pmid = {10699859}, issn = {0006-3592}, mesh = {Escherichia coli/genetics/*growth &amp; development ; Gene Expression ; History, 20th Century ; Kinetics ; Models, Biological ; Plasmids ; *Recombination, Genetic ; }, abstract = {The influence of growth rate on Escherichia coli plasmid content and expression of a cloned-gene product has been described by a mathematical model based upon the molecular mechanism of lambdadv plasmid replication and known relationships between growth rate and transcription and translation activities of the host cell. The model simulates correctly decreases in plasmid content with increasing growth rate as observed experimentally for pBR322, NR1, R1, and Col E1 plasmids. A maximum with respect to growth rate in intracellular product accumulation is indicated by the model, as is a transient overshoot in product concentration following a shift from smaller to larger growth rate. Available data, although very limited, show the same trends. These results, obtained without parameter or kinetic form adjustments or manipulation, clearly illustrate the advantages of kinetic descriptions of recombinant systems based upon the pertinent molecular mechanisms.}, }
@article {pmid10690411, year = {1999}, author = {Burian, RM and Gayon, J}, title = {The French school of genetics: from physiological and population genetics to regulatory molecular genetics.}, journal = {Annual review of genetics}, volume = {33}, number = {}, pages = {313-349}, doi = {10.1146/annurev.genet.33.1.313}, pmid = {10690411}, issn = {0066-4197}, mesh = {Animals ; Genetics/*history ; Genetics, Population/*history ; History, 20th Century ; Humans ; Molecular Biology/*history ; Physiology/history ; }, abstract = {French genetics had unusual beginnings. There are clear indications that the French biological establishment resisted Mendelian genetics strenuously from about 1910 to 1940. From about 1930 to 1950 several unconventional research programs with a strongly physiological orientation paved the way for the full entrance of French biology into genetics after World War II. This review examines some salient features of this history to clarify the strengths, weaknesses, and distinctive features of French genetics until about 1965. We suggest that after that data French genetics slowly merged into the international mainstream as genetics has become a largely molecular discipline.}, }
@article {pmid10683702, year = {1999}, author = {Silveira, A}, title = {Cerebral systems in the pathogenesis of endogenous psychoses. 1974.}, journal = {Arquivos de neuro-psiquiatria}, volume = {57}, number = {4}, pages = {1046-1056}, doi = {10.1590/s0004-282x1999000600026}, pmid = {10683702}, issn = {0004-282X}, mesh = {Brain Diseases/*history ; History, 20th Century ; Humans ; Mental Disorders/history ; Mental Processes ; Psychotic Disorders/*history ; }, abstract = {Mental process imply a harmonious functioning of psychic systems, assembled into larger units, psychic spheres (Table 1). Their neurophysiological representatives are brain systems of areas and pathways (Figs 1-4). Under functional and/or organic disturbances these systems originate the leading mental symptoms (Table 2) characterizing the diverse endogenous psychoses: hence, the latter's distinctive patterns. Accordingly, understanding and classification of psychoses should rest on the pathogenic dynamisms, not on clinical description. This is why Kleist's and Leonhard's conceptions of the endogenous psychoses surpass any other to exist. Kleist stands among the founders of psychiatry, by describing the "degeneration psychoses" and many single psychoses, as well as redefining, isolating and clarifying the progressive ones, later on renamed as schizophrenias (Table 3). Such pathogenic criterion may also be useful to define mental conditions other than psychoses, as hysteria, neuroses and psychopathic inferiority (Tables 4 and 5). One should consider here, besides the psychic systems and spheres involved, the way they were caught and the corresponding developmental phase. In Kleist's "degeneration psychoses"--cyclic or episodic (Table 6) the systems and spheres are disturbed by functional transient processes due to latent dispositions, while his and Leonhard's schizophrenias (Table 7) show a rather progressive, deteriorating course. The nature of the disorder is itself genetically determined, as is either its confinement to one sphere or its spreading out. The spread out pattern, while exceptional in schizophrenia, represents a rule for the "degeneration psychoses", in discussant's mind. Both groups may have symptoms alike by involvement of the same sphere (Table 8), but proper diagnosis is reached by taking pathogenesis into consideration.}, }
@article {pmid10672643, year = {1999}, author = {Cook, GM}, title = {The 1999 Crafoord Prize lectures. Neo-Lamarckian experimentalism in America: origins and consequences.}, journal = {The Quarterly review of biology}, volume = {74}, number = {4}, pages = {417-437}, doi = {10.1086/394112}, pmid = {10672643}, issn = {0033-5770}, mesh = {Animals ; Awards and Prizes ; *Biological Evolution ; Biology/history ; History, 19th Century ; History, 20th Century ; Humans ; Research/*history ; United States ; }, abstract = {The 1890s and the first decades of the twentieth century saw a vigorous debate about the mechanisms of evolutionary change. On one side, August Weismann defended the selectionist hypothesis; on the other, Herbert Spencer defended neo-Lamarckian theory. Supporters of Spencer, notably the American paleontologist and evolutionary theorist Henry Fairfield Osborn, recognized that the questions raised by Weismann and Spencer could only be settled experimentally. They called for the application of experimental methods, and the establishment of a new institution for the purpose of confirming the inheritance of acquired characters. To a great extent, the experimental program championed by Osborn and others was implemented and, although it failed to reveal soft inheritance and was soon eclipsed by Mendelian and chromosomal genetics, it did make significant and lasting contributions to evolutionary biology. Thus the importance of methodological and institutional innovation and theoretical pluralism to the progress of science is illustrated and underscored.}, }
@article {pmid10633804, year = {1999}, author = {Matlin, KS and van Meer, G}, title = {[Nobel prize in physiology or medicine for the discovery that proteins have intrinsic signals regulating their transport and localization within the cell].}, journal = {Nederlands tijdschrift voor geneeskunde}, volume = {143}, number = {52}, pages = {2604-2607}, pmid = {10633804}, issn = {0028-2162}, mesh = {Biological Transport ; Cell Membrane/metabolism ; *Cell Physiological Phenomena ; Germany ; History, 20th Century ; *Molecular Biology/history ; *Nobel Prize ; Proteins/*metabolism ; Signal Transduction ; United States ; }, abstract = {The Nobel prize in Physiology or Medicine 1999 was awarded to Dr. Günter Blobel for the discovery that proteins contain one or more signals in their structure that act as address labels. These are recognized by one of various transport machineries that direct the protein to a specific location in the cell, or into the secretory pathway out of the cell. His work joined traditional morphology and classic biochemistry in the notion of molecular topology, and led to the insight that proteins contain domains that specifically recognize domains in other proteins, nucleic acids, lipids et cetera. Specificity of recognition is provided by information that resides in the amino acid sequence of the domain. This work has had a great impact on pathophysiology as we now understand that malfunction of proteins may be due to incorrect localization in the cell, and thus due to a defect in transport and targeting. Typical example is the mislocalization of CFTR protein in cystic fibrosis. In a broader sense, malfunctioning of proteins often results from defective interactions with other proteins. The major challenge in the post-genomic era will be the unravelling of all signals that govern interactions between the 140,000 different proteins that are encoded in our DNA, to understand functions of these macromolecular interactions in the cell, and finally to trace and cure diseases that are caused by defective signals and interactions.}, }
@article {pmid10578117, year = {1999}, author = {McCloskey, BP}, title = {The relation of prophylactic inoculations to the onset of poliomyelitis. 1950.}, journal = {Reviews in medical virology}, volume = {9}, number = {4}, pages = {219-226}, doi = {10.1002/(sici)1099-1654(199910/12)9:4&lt;219::aid-rmv249&gt;3.0.co;2-t}, pmid = {10578117}, issn = {1052-9276}, mesh = {Age of Onset ; Australia/epidemiology ; Diphtheria/history/prevention &amp; control ; Diphtheria Toxoid/adverse effects/*history ; Disease Outbreaks/history ; History, 20th Century ; Humans ; Pertussis Vaccine/adverse effects/*history ; Poliomyelitis/epidemiology/etiology/*history ; Whooping Cough/history/prevention &amp; control ; }, }
@article {pmid10545780, year = {1999}, author = {Wiederholt, WC}, title = {Neuroepidemiologic research initiatives on Guam: past and present.}, journal = {Neuroepidemiology}, volume = {18}, number = {6}, pages = {279-291}, doi = {10.1159/000026223}, pmid = {10545780}, issn = {0251-5350}, support = {AG14382/AG/NIA NIH HHS/United States ; }, mesh = {Amyotrophic Lateral Sclerosis ; Animals ; Dementia/epidemiology/etiology/genetics/history ; Guam/epidemiology ; History, 20th Century ; Humans ; Neurodegenerative Diseases/*epidemiology/genetics/*history ; Parkinson Disease/complications/epidemiology/genetics/history ; }, abstract = {Since the middle of this century, a remarkable concentration of cases of neurodegenerative disease(s), referred to as amyotrophic lateral sclerosis and Parkinson-dementia complex (ALS/PDC), has been recognized among Chamorro natives of Guam. Intense investigations over the last 4 decades have failed to determine the etiology of these invariably fatal diseases. Over the same time period, the incidence of ALS has decreased dramatically, the incidence of PDC has decreased, but to a lesser degree, and age at onset has shifted to a later age by about 1 decade. Almost 50% of demented patients present without the classical Parkinsonian features of PDC, and the morphological picture has changed. Results of past and present research initiatives are reviewed.}, }
@article {pmid10516792, year = {1999}, author = {Neel, JV}, title = {Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? 1962.}, journal = {Bulletin of the World Health Organization}, volume = {77}, number = {8}, pages = {694-703; discussion 692-3}, pmid = {10516792}, issn = {0042-9686}, mesh = {Diabetes Mellitus/genetics/*history ; Genetics, Medical/history ; Genotype ; History, 20th Century ; Humans ; United States ; }, }
@article {pmid10488899, year = {1999}, author = {Joubert, M and Eisenring, JJ and Robb, JP and Andermann, F}, title = {Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 1969.}, journal = {Journal of child neurology}, volume = {14}, number = {9}, pages = {554-564}, doi = {10.1177/088307389901400902}, pmid = {10488899}, issn = {0883-0738}, mesh = {Cerebellar Ataxia/genetics/*history ; Cerebellum/*abnormalities ; Child, Preschool ; Female ; Genes, Recessive ; History, 20th Century ; Humans ; Infant ; Intellectual Disability/genetics/*history ; Male ; Ocular Motility Disorders/genetics/*history ; Pedigree ; Respiration Disorders/genetics/*history ; Syndrome ; }, }
@article {pmid10454649, year = {1999}, author = {Coombs, NJ and Gough, AC and Primrose, JN}, title = {Optimisation of DNA and RNA extraction from archival formalin-fixed tissue.}, journal = {Nucleic acids research}, volume = {27}, number = {16}, pages = {e12}, doi = {10.1093/nar/27.16.e12}, pmid = {10454649}, issn = {1362-4962}, mesh = {Archives ; DNA/*isolation &amp; purification ; Formaldehyde ; Paraffin Embedding ; Preservation, Biological ; RNA/*isolation &amp; purification ; Reverse Transcriptase Polymerase Chain Reaction ; Time Factors ; Tissue Fixation ; }, abstract = {Archival, formalin-fixed, paraffin-embedded tissue is an invaluable resource for molecular genetic studies but the extraction of high quality nucleic acid may be problematic. We have optimised DNA extraction by comparing 10 protocols, including a commercially available kit and a novel method that utilises a thermal cycler. The thermal cycler and Chelex-100 extraction method yielded DNA capable of amplification by PCR from every block and 61% of sections versus 54% using microwave and Chelex-100, 15% with classical xylene-based extraction and 60% of sections using the kit. Successful RNA extraction was observed, by beta-actin amplification, in 83.7% sections for samples treated by the thermal cycler and Chelex-100 method. Thermal cycler and Chelex-100 extraction of nucleic acid is reliable, quick and inexpensive.}, }
@article {pmid10444294, year = {1999}, author = {Von Willebrand, EA}, title = {Hereditary pseudohaemophilia.}, journal = {Haemophilia : the official journal of the World Federation of Hemophilia}, volume = {5}, number = {3}, pages = {223-31; discussion 222}, doi = {10.1046/j.1365-2516.1999.00302.x}, pmid = {10444294}, issn = {1351-8216}, mesh = {Hemophilia A/genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid10439561, year = {1999}, author = {Stamhuis, IH and Meijer, OG and Zevenhuizen, EJ}, title = {Hugo de Vries on heredity, 1889-1903. Statistics, Mendelian laws, pangenes, mutations.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {90}, number = {2}, pages = {238-267}, doi = {10.1086/384323}, pmid = {10439561}, issn = {0021-1753}, mesh = {Genes, Plant ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Netherlands ; }, abstract = {The essay describes the development of Hugo de Vries's thinking on heredity from the publication of his Intracellulare Pangenesis in 1889 to the publication of Die Mutations-theorie, Volume 2, in 1903. De Vries's work in the 1890s can be characterized as an attempt to defend his theory of pangenes, especially the fundamental and controversial idea that different characters have different material hereditary carriers. Hybridization experiments served his goal. Recently discovered research notes on hybridization from 1896 suggest that, though he was unaware of Mendel's work, De Vries used the laws of dominance and recessiveness, segregation, and independent assortment to explain the 75:25 ratio in the second generation. He had discovered these laws by applying insights from probability theory to his research. In Die Mutationstheorie De Vries combined central concepts of intracellular pangenesis and his mutation theory by modifying the meanings of important terms and introducing new states of pangenes. In his attempts to describe Mendelian crossings in terms of pangenes and mutations, he became entangled in a number of contradictions. Some of his remarks suggest that he was aware that the Mendelian laws and his own theories of pangenes and mutations could not be made consistent.}, }
@article {pmid19385116, year = {1999}, author = {Pinar, S}, title = {[The reception of the Mendelian chromosome theory in Spain: the contribution of José Fernández Nonídez].}, journal = {Asclepio; archivo iberoamericano de historia de la medicina y antropologia medica}, volume = {51}, number = {1}, pages = {27-54}, doi = {10.3989/asclepio.1999.v51.i1.323}, pmid = {19385116}, issn = {0210-4466}, mesh = {*Chromosomes/physiology ; *Genetics/education/history ; Histology/education/history ; History, 20th Century ; *Medical Laboratory Personnel/education/history/psychology ; Methods ; Research Personnel/education/history/psychology ; Spain/ethnology ; }, }
@article {pmid9855494, year = {1998}, author = {Zeviani, M and Moraes, CT and DiMauro, S and Nakase, H and Bonilla, E and Schon, EA and Rowland, LP}, title = {Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.}, journal = {Neurology}, volume = {51}, number = {6}, pages = {1525 and 8 pages following}, doi = {10.1212/wnl.51.6.1525-a}, pmid = {9855494}, issn = {0028-3878}, mesh = {DNA, Mitochondrial/*genetics ; *Gene Deletion ; History, 20th Century ; Humans ; Kearns-Sayre Syndrome/*genetics ; Restriction Mapping ; }, }
@article {pmid9853812, year = {1998}, author = {Hammer, RE}, title = {Egg culture: the foundation.}, journal = {The International journal of developmental biology}, volume = {42}, number = {7}, pages = {833-839}, pmid = {9853812}, issn = {0214-6282}, mesh = {Animals ; Animals, Genetically Modified ; Culture Techniques/*history/methods ; *Embryonic and Fetal Development ; Fertilization in Vitro/*history/methods ; History, 20th Century ; Humans ; Ovum/*growth &amp; development ; }, abstract = {Ralph Brinster began his classic work on egg culture more than 35 years ago. His interest in mammalian egg culture had developed, in part, as a consequence of his experiences with animal breeding and reproduction that he gained while growing up on a farm. Ralph decided early in his career that an in vitro approach to culturing eggs would provide a powerful tool with which to study the development of these cells. Beginning at the close of the 19th century, a number of investigators had performed in vitro studies on egg culture and the related area of egg transfer; however, the ability to recover and transplant eggs had reached a much higher level of perfection than had culture. Eggs of many species could be successfully transferred, but there was no reliable technique for egg culture. In 1963, Ralph reported a method for culturing eggs in microdrops of medium under oil (Brinster, 1963), which has become universally used. Two years later, he identified pyruvate as the central and essential energy source for early stages of mouse eggs (Brinster, 1965b). These two developments revolutionized in vitro studies of mammalian eggs and issued in an era of intense research activity concerning egg culture and egg manipulation. Effective formulations of culture media could now be developed to allow routine in vitro maintenance of eggs, and important parameters for these recipes were soon determined. It was quickly established that the requirement for pyruvate as an energy source exists at ovulation in many species and is already present in germ cells of the mouse fetus. The metabolic activity of the fertilized mouse egg was shown to be low and comparable to bone; however, four days later, at the blastocyst stage of development, the metabolic activity was comparable to brain. Thus, a foundation of understanding about the biology of early mammalian eggs was established between 1960 and 1970, and subsequent studies have broadened this understanding. However, the greatest impact of a simple, reliable egg culture method has been to provide the ability to perform complicated manipulative procedures on preimplantation stages of mammalian embryos. In no area has this been more important than in development of transgenic animals. All methods for generating germ line genetic modifications rely on the ability to maintain and manipulate eggs and early developmental stages in vitro without loss of developmental competence. The importance of efficient egg culture to manipulation and transgenesis is fundamental and enabling.}, }
@article {pmid9806453, year = {1998}, author = {Gulcher, J and Stefansson, K}, title = {Population genomics: laying the groundwork for genetic disease modeling and targeting.}, journal = {Clinical chemistry and laboratory medicine}, volume = {36}, number = {8}, pages = {523-527}, doi = {10.1515/CCLM.1998.089}, pmid = {9806453}, issn = {1434-6621}, mesh = {Genealogy and Heraldry ; Genetic Diseases, Inborn/*genetics ; *Genetics, Population ; *Genome ; Humans ; Iceland ; }, abstract = {The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes. Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.}, }
@article {pmid9769919, year = {1998}, author = {Cavalli-Sforza, L}, title = {[Man and the diversity of his genome. An extraordinary phase in the history of population genetics].}, journal = {Pathologie-biologie}, volume = {46}, number = {2}, pages = {98-102}, pmid = {9769919}, issn = {0369-8114}, mesh = {Africa ; Europe ; *Genetic Variation ; Genetics, Population/*history ; *Genome, Human ; History, 20th Century ; Humans ; }, abstract = {Population genetics is almost eighty years old, but benefited only very recently from the advantages of direct DNA analysis. Nevertheless, much knowledge had already accumulated and was completely confirmed by the study of DNA markers. Major benefits of the latter came with microsatellites. It allowed to discover an error made with classical markers but even more seriously with RFLPs, because of the practically involuntary sampling of individuals almost exclusively of European origin for the detection of polymorphisms. Among other evolutionary application of microsatellites, the most attractive is their very recent use for dating population separations during the recent migration out of Africa of modern humans. They confirm the theory that this expansion was quite recent. Single nucleotide substitutions are the major material of evolution, and so far markers of this kind were rare. A new method, DHPLC, is excellent for their detection and testing. In humans it has been applied almost exclusively to the Y chromosome, and in a year it has given a completely new picture of Y chromosome genetics. Some applications of statistical methods to genetic geography of classical markers and ADN markers will show the power of the geographical approach, and therefore the need of a wide collection of population samples, as will be made possible by the HGDP (Human Genome Diversity Project).}, }
@article {pmid9709997, year = {1998}, author = {Moser, HW and Moser, AB and Frayer, KK and Chen, W and Schulman, JD and O'Neill, BP and Kishimoto, Y}, title = {Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. 1981.}, journal = {Neurology}, volume = {51}, number = {2}, pages = {334 and 9 pages following}, doi = {10.1212/wnl.51.2.334-a}, pmid = {9709997}, issn = {0028-3878}, mesh = {Adolescent ; Adrenoleukodystrophy/blood/genetics/*history ; Fatty Acids/blood/*history ; Female ; Heterozygote ; History, 20th Century ; Humans ; Lipids/blood/history ; Male ; }, }
@article {pmid9709996, year = {1998}, author = {Austin, JH}, title = {Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination. 1957.}, journal = {Neurology}, volume = {51}, number = {2}, pages = {333 and 12 pages following}, doi = {10.1212/wnl.51.2.333-a}, pmid = {9709996}, issn = {0028-3878}, mesh = {Coloring Agents ; Electrochemistry ; History, 20th Century ; Humans ; Leukodystrophy, Metachromatic/diagnosis/genetics/urine ; Male ; Solubility ; Staining and Labeling ; }, }
@article {pmid9688189, year = {1998}, author = {Dehner, LP}, title = {The evolution of the diagnosis and understanding of primitive and embryonic neoplasms in children: living through an epoch.}, journal = {Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc}, volume = {11}, number = {7}, pages = {669-685}, pmid = {9688189}, issn = {0893-3952}, mesh = {Child ; Forecasting ; History, 19th Century ; History, 20th Century ; Humans ; Medical Oncology/history ; Molecular Biology ; Neoplasms, Complex and Mixed/epidemiology/*history/pathology/therapy ; Neoplasms, Germ Cell and Embryonal/epidemiology/*history/pathology/therapy ; Sarcoma/history/pathology ; }, abstract = {Approximately 30% of malignant neoplasms in children are dysontogenetic tumors whose pathologic features resemble or recapitulate those of the developing organ or tissue of origin. Archetypes include classic neuroblastoma, Wilms' tumor, and embryonal rhabdomyosarcoma. This review traces the history of the principal types of dysontogenetic neoplasms and the primitive round cell tumors, Ewing's sarcoma, and peripheral primitive neuroectodermal tumor. Retinoblastoma, neuroblastoma, and Wilms' tumor were first described in the 19th century but with several different appellations than those we use today. Although some progress was made in the surgical management of Wilms' tumor during the 1940s and 1950s, most of these unique solid neoplasms of childhood were seen as essentially untreatable and inevitably fatal; surgery and perhaps irradiation were the principal therapeutic offerings. The folic acid analogue, aminopterin, was reported in 1948 as inducing the first complete but temporary remission in acute childhood leukemia. The chemotherapeutic era began shortly thereafter with effective chemotherapy in the management of Wilms' tumor with the introduction of dactinomycin. Pathologists were no longer restricted to being purveyors of the death sentence; they were now responsible for differentiating one type of primitive and embryonic neoplasm from another by using a variety of ancillary techniques, including tissue culture, electron microscopy, immunohistochemistry, and cytogenetics. Favorable or unfavorable morphologic types and subtypes of tumors were defined and, together with the pathologic staging, became incorporated into the therapeutic plan and prognostic assessment. During the past 40 years, these tumors progressed from being virtually treatment resistant to having an overall 5-year survival of 70% or greater. Through the cooperative efforts of pediatric hematologists/oncologists, pediatric surgeons, radiation therapists, and pathologists, the primitive and embryonic neoplasms of childhood are now viewed as some of the most treatable and curable of cancers.}, }
@article {pmid9521237, year = {1998}, author = {Kennedy, WR and Alter, M and Sung, JH}, title = {Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait.}, journal = {Neurology}, volume = {50}, number = {3}, pages = {583 and 10 pages following}, doi = {10.1212/wnl.50.3.583}, pmid = {9521237}, issn = {0028-3878}, support = {R42 NS071979/NS/NINDS NIH HHS/United States ; }, mesh = {Age of Onset ; Genes, Recessive ; Genetic Linkage ; History, 20th Century ; Humans ; Male ; Muscular Atrophy, Spinal/genetics/*history ; Pedigree ; X Chromosome ; }, }
@article {pmid9259363, year = {1997}, author = {Valtin, H and Schroeder, HA}, title = {Familial hypothalamic diabetes insipidus in rats (Brattleboro strain). 1964.}, journal = {Journal of the American Society of Nephrology : JASN}, volume = {8}, number = {8}, pages = {1333-1341}, doi = {10.1681/ASN.V881333}, pmid = {9259363}, issn = {1046-6673}, support = {H-5076//PHS HHS/United States ; HE-06181//PHS HHS/United States ; }, mesh = {Animals ; Diabetes Insipidus/genetics/*history/physiopathology ; Diuresis ; Female ; History, 20th Century ; Hypothalamic Diseases/genetics/history/physiopathology ; Male ; Rats ; Rats, Brattleboro ; Vasopressins/physiology ; }, }
@article {pmid9209755, year = {1997}, author = {Thompson, E}, title = {Symbol grounding: a bridge from artificial life, to artificial intelligence.}, journal = {Brain and cognition}, volume = {34}, number = {1}, pages = {48-71}, doi = {10.1006/brcg.1997.0906}, pmid = {9209755}, issn = {0278-2626}, mesh = {Animals ; *Artificial Intelligence ; Computational Biology ; DNA/genetics ; Humans ; Mental Processes/physiology ; Neural Networks, Computer ; Philosophy ; Semantics ; Symbolism ; Trinucleotide Repeats/genetics ; }, abstract = {This paper develops a bridge from AL issues about the symbol-matter relation to AI issues about symbol-grounding by focusing on the concepts of formality and syntactic interpretability. Using the DNA triplet-amino acid specification relation as a paradigm, it is argued that syntactic properties can be grounded as high-level features of the non-syntactic interactions in a physical dynamical system. This argument provides the basis for a rebuttal of John Searle's recent assertion that syntax is observer-relative (1990, 1992). But the argument as developed also challenges the classic symbol-processing theory of mind against which Searle is arguing, as well as the strong AL thesis that life is realizable in a purely computational medium. Finally, it provides a new line of support for the autonomous systems approach in AL and AI (Varela &amp; Bourgine 1992a, 1992b).}, }
@article {pmid9140400, year = {1997}, author = {Bowers, JE and Meredith, CP}, title = {The parentage of a classic wine grape, Cabernet Sauvignon.}, journal = {Nature genetics}, volume = {16}, number = {1}, pages = {84-87}, doi = {10.1038/ng0597-84}, pmid = {9140400}, issn = {1061-4036}, mesh = {Alleles ; *Crosses, Genetic ; France ; Fruit/classification/*genetics ; Gene Frequency ; Genetic Linkage ; History, 17th Century ; History, 18th Century ; Likelihood Functions ; Microsatellite Repeats/*genetics ; Polymorphism, Restriction Fragment Length ; *Wine/history ; }, abstract = {The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renowned grape variety for the production of fine red wine". Although now grown in many countries, Cabernet Sauvignon derives its fame from its long association with the Bordeaux region of France, where it has been grown at least since the 17th century. We present microsatellite DNA evidence for the hypothesis that Cabernet Sauvignon is the progeny of two other Bordeaux cultivars, Cabernet franc and Sauvignon blanc. Likelihood ratios support this hypothesis to a very high degree of probability. A close relationship between Cabernet Sauvignon and Cabernet franc has been suspected but the genetic contribution of Sauvignon blanc, despite its similar name, is a surprise.}, }
@article {pmid9224941, year = {1997}, author = {Melnick, M}, title = {Cleft lip and palate etiology and its meaning in early 20th century England: Galton/Pearson vs. Bateson; polygenically poor protoplasm vs. Mendelism.}, journal = {Journal of craniofacial genetics and developmental biology}, volume = {17}, number = {2}, pages = {65-79}, pmid = {9224941}, issn = {0270-4145}, mesh = {Cleft Lip/genetics/*history ; Cleft Palate/genetics/*history ; England ; Eugenics/history ; Female ; Genetics, Medical/history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Models, Genetic ; Pedigree ; }, abstract = {At the outset of the 20th century in England there arose a venomous dispute between Mendelian geneticists such as Bateson and anti-Mendelian biometricians such as Pearson over the genetic etiology of such "physical deformities" as cleft lip and palate. To Pearson et al., such traits were an expression of physical and racial degeneracy which could be traced to polygenically poor protoplasm. To Bateson et al., such traits were Mendelian unit characters whose segregation could be seen in carefully constructed family pedigrees. Bateson dismissed the work of the anti-Mendelians as "unsound in construction" and predicted such thinking would inevitably lead to "brutal" control of those the larger society deemed unfit. History proved Bateson astutely prescient.}, }
@article {pmid9137624, year = {1997}, author = {Gould, SE and Grainger, RM}, title = {Neural induction and antero-posterior patterning in the amphibian embryo: past, present and future.}, journal = {Cellular and molecular life sciences : CMLS}, volume = {53}, number = {4}, pages = {319-338}, doi = {10.1007/pl00000609}, pmid = {9137624}, issn = {1420-682X}, mesh = {Amphibians/*embryology ; Animals ; Body Patterning ; Drosophila/embryology ; Ectoderm/physiology ; Embryology/*history ; Embryonic Induction ; History, 20th Century ; Intercellular Signaling Peptides and Proteins ; Mesoderm/physiology ; Models, Biological ; Nervous System/*embryology ; Proteins/physiology ; Xenopus Proteins ; }, abstract = {Neural induction and patterning in competent ectoderm occurs during gastrula and early neurula stages in response to signals from dorsal mesoderm. The earliest views of antero-posterior (A-P) patterning were modified beginning in the 1930s, as complexities concerning the timing of the pattern-forming process and potential sources of the patterning signals were revealed. In the 1950s and 1960s several different models for A-P patterning were proposed, all of which, however, bear a number of similarities, including a two-component system for generating A-P axial information in the embryo. Early attempts to identify neural-inducing molecules were largely unsuccessful due to technical limitations in biochemical analyses and concerns about assaying neural responses. The advent of modern molecular genetic technology has permitted more precise tests of a number of classic observations about the timing of A-P patterning and the sources of patterning signals. While some early observations have been confirmed, a number of new concepts have emerged in recent years, particularly concerning the source of patterning signals in the embryo. Striking progress has been made in identifying putative neural-inducing molecules, and recent experiments have begun to suggest how these might contribute to A-P patterning. While the successes in recent years have been revealing, many of the classic issues concerning neural induction and patterning remain essentially as they were when first defined many decades ago. The power of modern molecular genetics, however, should permit many of these issues to be significantly clarified in the decades to come.}, }
@article {pmid9463076, year = {1997}, author = {Allen, GE}, title = {The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today.}, journal = {Genetica}, volume = {99}, number = {2-3}, pages = {77-88}, doi = {10.1007/BF02259511}, pmid = {9463076}, issn = {0016-6707}, mesh = {Eugenics/*history ; Female ; Genetic Diseases, Inborn/economics/genetics ; Genetics, Behavioral/history ; Germany ; History, 20th Century ; Human Genome Project ; Humans ; Male ; Politics ; Social Conditions ; United Kingdom ; United States ; }, abstract = {Eugenics, the attempt to improve the genetic quality of the human species by 'better breeding', developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain and Germany, and in those countries was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree in which traits such as Huntington's chorea, blindness, deafness, mental retardation (feeblemindedness), intelligence, alcoholism, schizophrenia, manic depression, rebelliousness, nomadism, prostitution and feeble inhibition were genetically determined. Eugenicists were also active in the political arena, lobbying in the United States for immigration restriction and compulsory sterilization laws for those deemed genetically unfit; in Britain they lobbied for incarceration of genetically unfit and in Germany for sterilization and eventually euthanasia. In all these countries one of the major arguments was that of efficiency: that it was inefficient to allow genetic defects to be multiplied and then have to try and deal with the consequences of state care for the offspring. National socialists called genetically defective individuals 'useless eaters' and argued for sterilization or euthanasia on economic grounds. Similar arguments appeared in the United States and Britain as well. At the present time (1997) much research and publicity is being given to claims about a genetic basis for all the same behaviors (alcoholism, manic depression, etc.), again in an economic context--care for people with such diseases is costing too much. There is an important lesson to learn from the past: genetic arguments are put forward to mask the true--social and economic--causes of human behavioral defects.}, }
@article {pmid9336074, year = {1997}, author = {Cabello, F and Springer, AD}, title = {[Emergent diseases: old and new diseases. Etiological and climatic aspects. Socioeconomic and cultural influences].}, journal = {Revista medica de Chile}, volume = {125}, number = {1}, pages = {74-84}, pmid = {9336074}, issn = {0034-9887}, mesh = {Chile/epidemiology ; Communicable Diseases/*epidemiology/history ; Cultural Characteristics ; Epidemiologic Factors ; History, 20th Century ; Meteorological Concepts ; Prevalence ; Socioeconomic Factors ; }, abstract = {During recent years the world has experienced the reemergence of old communicable diseases and the emergence of new ones caused by novel pathogens such as the HIV virus and Borrelia burgdorferi. The problem consists mostly in the reemergence of old diseases but specially in industrialized countries new pathogens have also been described. Although the emergence of these infections in rare instances is due to genetic changes of pathogens to more virulent forms, most commonly they are due to changes in the environment and the host. Rapidly deteriorating living standards, disintegration of sanitation and public health infrastructure, cultural changes, migration and variations in behavior are some of the factors involved in the worldwide increase of infectious diseases. The degradation of natural habitats including forests and marine niches accompanied by climatic changes, are also playing an increasing role in the detrimental evolution of these diseases. The global emergence of these diseases calls into question the doctrine of epidemiological transition and directs us to scrutinize the paradigm that bases the prevention of these diseases solely on vaccination. The current situation also highlights the limitations of classical epidemiology in dealing with unexpected problems, and strongly suggests that this discipline should incorporate into its analysis findings from other fields, including ecological, climatological, and economical information. As most of the negative social and economical developments that impinge on the detrimental evolution of these diseases are increasing world-wide, it can be predicted that the problems posed by these infections will continue and perhaps worsen in the near future.}, }
@article {pmid9284643, year = {1997}, author = {Sapp, J}, title = {Jean Brachet, l'hérédité générale and the origins of molecular embryology.}, journal = {History and philosophy of the life sciences}, volume = {19}, number = {1}, pages = {69-87}, pmid = {9284643}, issn = {0391-9714}, mesh = {Animals ; Belgium ; History, 20th Century ; Humans ; Molecular Biology/*history ; Research/history ; }, abstract = {Jean Brachet's research on microsomes and the role of RNA in protein synthesis during the 1940s and 50s is placed in the context of embryological views about the role of the cytoplasm in development, and plasmagene theory based on studies of non-Mendelian inheritance in microorganisms. I show how Brachet's subsequent conception of messenger RNA evolved in the context of his conceptions of the relations between plasmagenes and nuclear genes. His theorizing on cytoplasmic organelles and viruses is further situated in the bio-political controversy over the inheritance of acquired characteristics during the Lysenko controversy.}, }
@article {pmid9008732, year = {1996}, author = {Luchnik, NV}, title = {[The chromosome cycle of DNA. 1971].}, journal = {Radiatsionnaia biologiia, radioecologiia}, volume = {36}, number = {6}, pages = {774-779}, pmid = {9008732}, issn = {0869-8031}, mesh = {Animals ; Cell Cycle/genetics/radiation effects ; Chromosome Aberrations/genetics ; Chromosomes/genetics/*radiation effects ; DNA/genetics/*history ; History, 20th Century ; Translations ; }, abstract = {A hypothesis on the behaviour of DNA molecules during the cell cycle has been put forward using information on the regularities observed in the formation of chromosome aberrations while irradiating different stages of the cell cycle. The relevant statements of the hypothesis are as follows. 1) The cell cycle involves two stages of intermolecular proofs. The first proof occurs before DNA synthesis, the second one before mitosis. 2) The probable mechanism of the proofs is connected with the formation of hybrid DNA molecules. 3) In the case of multistrandedness, the second proof follows a relay-race principle.}, }
@article {pmid8906061, year = {1996}, author = {Ahn, MS and Jackler, RK and Lustig, LR}, title = {The early history of the neurofibromatosis. Evolution of the concept of neurofibromatosis type 2.}, journal = {Archives of otolaryngology--head &amp; neck surgery}, volume = {122}, number = {11}, pages = {1240-1249}, doi = {10.1001/archotol.1996.01890230086016}, pmid = {8906061}, issn = {0886-4470}, mesh = {Europe ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; History, Medieval ; Humans ; Male ; Neurofibromatosis 1/history ; Neurofibromatosis 2/*history ; Neuroma/classification/history ; Neuroma, Acoustic/history ; }, abstract = {Although neurofibromatosis (NF) became widely recognized as a pathologic entity in the late 19th century, only relatively recently has a clear distinction been made between its generalized form and the central variety. The latter form is typified by bilateral acoustic neuromas (ANs), which may be accompanied by other intracranial tumors, in particular, meningiomas. Up until almost the current era, confusion regarding the protean manifestations of the 2 types of NF existed in the minds of clinicians and in the literature. In 1987, a consensus panel of the National Institutes of Health differentiated the clinical manifestations associated with classic von Recklinghausen syndrome from those of the predominantly intracranial subtype and they were subsequently deemed NF type 1 (NF-1) and NF type 2 (NF-2), respectively. During the last few years, the genetic flaws that underlie these 2 syndromes have been elucidated, revealing that their origins lie in defects on separate chromosomes. The early literature on the subject included repeated descriptions of patients with manifestations typical of NF-2. The investigators, however, considered the intracranial lesions to be merely 1 facet of the generalized form of the disease. A few prescient individuals, however, demonstrated an appreciation for the distinguishing characteristics between these superficially similar, yet quite different, syndromes. The goals of this article are to trace the evolution of the concept of NF-2 as a distinct clinical entity from NF-1 and to assess the early awareness of and attitudes toward bilateral ANs, familial ANs, and ANs associated with other intracranial tumors.}, }
@article {pmid8837700, year = {1996}, author = {Kendler, KS and Zerbin-Rüdin, E}, title = {Abstract and review of "Zur Erbpathologie der Schizophrenie" (Contribution to the genetics of schizophrenia). 1916.}, journal = {American journal of medical genetics}, volume = {67}, number = {4}, pages = {343-346}, doi = {10.1002/(SICI)1096-8628(19960726)67:4&lt;343::AID-AJMG5&gt;3.0.CO;2-N}, pmid = {8837700}, issn = {0148-7299}, support = {MH-41953/MH/NIMH NIH HHS/United States ; }, mesh = {Female ; History, 20th Century ; Humans ; Male ; Morbidity ; Nuclear Family ; Risk Factors ; Schizophrenia/diagnosis/epidemiology/*genetics ; }, abstract = {Starting from the 722 probands originally studied by Rüdin, Bruno Schulz re-examined them and their relatives confirming the diagnosis in 660. While Rüdin sought for mendelian ratios in siblings, Schulz, anticipating modern methods, focused on the family study method as an approach to clarifying possible etiologic heterogeneity within the schizophrenia syndrome. Using a Kraepelian approach to diagnosis, Schulz reports a MR for narrowly and broadly defined schizophrenia of 6.7 and 8.2% in siblings and 2.6 and 3.7% in parents. He found no evidence for a difference in risk of illness in siblings as a function of either the gender or outcome of the proband. The risk for schizophrenia was significantly increased in siblings of hebephrenic probands. Compared to siblings of probands with no identified factor which precipitated their schizophrenia, the risk for schizophrenia was significantly decreased in probands with a physical etiologic factor but did not differ in siblings of probands with a psychological etiologic factor. The risk for schizophrenia was particularly low in siblings of probands whose onset of illness occurred within a year of major head trauma.}, }
@article {pmid8837699, year = {1996}, author = {Kendler, KS and Zerbin-Rüdin, E}, title = {Abstract and review of "Studien Uber Vererbung und Entstehung Geistiger Störungen. I. Zur Vererbung und Neuentstehung der Dementia praecox." (Studies on the inheritance and origin of mental illness: I. To the problem of the inheritance and primary origin of dementia praecox). 1916.}, journal = {American journal of medical genetics}, volume = {67}, number = {4}, pages = {338-342}, doi = {10.1002/(SICI)1096-8628(19960726)67:4&lt;338::AID-AJMG4&gt;3.0.CO;2-I}, pmid = {8837699}, issn = {0148-7299}, support = {MH-41953/MH/NIMH NIH HHS/United States ; }, mesh = {Female ; History, 20th Century ; Humans ; Male ; Morbidity ; Nuclear Family ; Risk Factors ; Schizophrenia/epidemiology/*genetics ; }, abstract = {The first major family study of schizophrenia, reported by Ernst Rüdin in 1916, examined 2,732 siblings of 755 probands, diagnosed according to the teachings of Kraepelin. This study, the goal of which was to see whether the segregation pattern of schizophrenia in siblings conformed to simple mendelian expectations, was the first in psychiatry to use systematic ascertainment, proband correction and calculation of an age corrected risk of illness--the morbid risk (MR). The MR for narrowly and broadly defined schizophrenia in this sample can be calculated to equal 5.4 and 7.7%. "Other psychoses"--a heterogeneous category--were also common in these siblings (a MR of 5.1%). In a small sample of half-siblings, the MR for narrowly defined schizophrenia was quite low (0.6%). The risk for schizophrenia in siblings was significantly increased by a parental diagnosis of alcoholism, a history of schizophrenia in second or third degree relatives, and, particularly, by a parental diagnosis of "other psychoses." No evidence was found for sex-specific transmission of schizophrenia in these sibships. The MR for narrowly and broadly definite schizophrenia in parents of these probands can be estimated to be 2.3% and 3.9%, respectively. In accord with more recent studies, Rüdin found i) a familial relationship between schizophrenia and other psychoses ii) a substantially lower risk for schizophrenia in parents vs. siblings and iii) a segregation pattern of schizophrenia in siblings that did not conform to that expected for a simple mendelian disorder.}, }
@article {pmid8653976, year = {1996}, author = {Otto, JC}, title = {An account of an hemorrhagic disposition existing in certain families.}, journal = {Clinical orthopaedics and related research}, volume = {}, number = {328}, pages = {4-6}, doi = {10.1097/00003086-199607000-00002}, pmid = {8653976}, issn = {0009-921X}, mesh = {Hemophilia A/genetics/*history ; History, 19th Century ; }, }
@article {pmid8784780, year = {1996}, author = {Garrod, AE}, title = {The incidence of alkaptonuria: a study in chemical individuality. 1902.}, journal = {Molecular medicine (Cambridge, Mass.)}, volume = {2}, number = {3}, pages = {274-282}, pmid = {8784780}, issn = {1076-1551}, mesh = {Alkaptonuria/epidemiology/*genetics/*history ; Female ; History, 20th Century ; Humans ; Male ; }, }
@article {pmid8690571, year = {1996}, author = {Kathren, RL}, title = {Pathway to a paradigm: the linear nonthreshold dose-response model in historical context. The American Academy of Health Physics 1995 Radiology Centennial Hartman Oration.}, journal = {Health physics}, volume = {70}, number = {5}, pages = {621-635}, doi = {10.1097/00004032-199605000-00002}, pmid = {8690571}, issn = {0017-9078}, mesh = {Dose-Response Relationship, Radiation ; Health Physics/history ; History, 19th Century ; History, 20th Century ; Radiation Dosage ; Radiation Protection/*history ; Radiology/*history ; }, abstract = {This paper traces the evolution of the linear nonthreshold dose-response model and its acceptance as a paradigm in radiation protection practice and risk analysis. Deterministic effects such as skin burns and even deep tissue trauma were associated with excessive exposure to x rays shortly after their discovery, and carcinogenicity was observed as early as 1902. Still, it was not until 1925 that the first protective limits were suggested. For three decades these limits were based on the concept of a tolerance dose which, if not exceeded, would result in no demonstrable harm to the individual and implicitly assumed a threshold dose below which radiation effects would be absent. After World War II, largely because of genetic concerns related to atmospheric weapons testing, radiation protection dose limits were expressed in terms of a risk based maximum permissible dose which clearly implied no threshold. The 1927 discovery by Muller of x-ray induced genetic mutations in fruit flies, linear with dose and with no apparent threshold, was an important underpinning of the standards. The linear nonthreshold dose-response model was originally used to provide an upper limit estimate of the risk, with zero being the lower limit, of low level irradiation since the dose-response curve could not be determined at low dose levels. Evidence to the contrary such as hormesis and the classic studies of the radium dial painters notwithstanding, the linear nonthreshold model gained greater acceptance and in the centennial year of the discovery of x rays stands as a paradigm although serious questions are beginning to be raised regarding its general applicability. The work includes a brief digression describing the work of x-ray protection pioneer William Rollins and concludes with a recommendation for application of a de minimis dose level in radiation protection.}, }
@article {pmid9136281, year = {1996}, author = {Wailoo, K}, title = {Genetic marker of segregation: sickle cell anemia, thalassemia, and racial ideology in American medical writing 1920-1950.}, journal = {History and philosophy of the life sciences}, volume = {18}, number = {3}, pages = {305-320}, pmid = {9136281}, issn = {0391-9714}, mesh = {Black or African American/history ; Anemia, Sickle Cell/genetics/*history ; Black People/genetics/*history ; Female ; History, 20th Century ; Humans ; Male ; *Prejudice ; Race Relations/*history ; Thalassemia/genetics/*history ; United States ; }, abstract = {This paper focuses on sickle cell anemia and thalassemia as case studies of genetic disease in America. Before the 1950s, these diseases were perceived by many physicians as closely related (indeed, by some as indistinguishable). Sickle cell anemia was defined by most American physicians as a Mendelian dominant disorder specific to African-Americans. As such, it could be 'spread' by any individual parent 'carrier' through reproduction. This view of the disease fed into (and was supported by) prevalent social concerns about miscegenation and, more generally, the dangers inherent in 'negro blood'. A particularly thorny problem for American physicians was how to explain cases of 'sickle cell anemia in white patients'. The paper examines how views about race, blood, and Mendelian genetics informed broader debates about the nature of hereditary disease and social relations in America from 1910 to 1950.}, }
@article {pmid8940903, year = {1996}, author = {Fujimura, JH}, title = {Standardizing practices: a socio-history of experimental systems in classical genetic and virological cancer research, ca. 1920-1978.}, journal = {History and philosophy of the life sciences}, volume = {18}, number = {1}, pages = {3-54}, pmid = {8940903}, issn = {0391-9714}, mesh = {Animals ; Clinical Protocols ; Disease Models, Animal ; History, 20th Century ; Humans ; Mice ; Molecular Biology/*history ; Neoplasms/etiology/*history ; Proto-Oncogene Mas ; Proto-Oncogenes ; *Research Design ; United States ; Virology/*history ; }, abstract = {This paper presents a narrative history of technologies in cancer research circa 1920-1978 and a theoretical perspective on the complex, intertwined relationships between scientific problems, material practices and technologies, concepts and theories, and other historical circumstances. The history presents several active lines of research and technology development in the genetics of cancer in the United States which were constitutive of proto-oncogene work in its current form. I write this history from the perspective of technology development. Scientists participating in cancer research created tools with which to study their problems of interest, but the development of the tools also influenced the questions asked and answered in the form of concepts and theories developed. These tools included genetic ideas of the 1920s, inbred mouse colonies, chemicals and antibiotics developed during World War Two, tissue cultures and their technical procedures, and viruses. I examine these tools as standardized experimental systems that standardized materials as well as practices in laboratories. Inbred animals, tissue culture materials and methods, and tumor viruses as experimental systems gave materiality to "genes' and "cancer'. They are technical-natural objects that stand-in for nature in the laboratory.}, }
@article {pmid8787945, year = {1996}, author = {Zucker, TF and Zucker, LM}, title = {Fat accretion and growth in the rat.}, journal = {Obesity research}, volume = {4}, number = {1}, pages = {102-108}, doi = {10.1002/j.1550-8528.1996.tb00520.x}, pmid = {8787945}, issn = {1071-7323}, support = {A-4085//PHS HHS/United States ; C-4241//PHS HHS/United States ; }, mesh = {*Adipose Tissue ; Animals ; Body Composition ; Breeding ; History, 20th Century ; Male ; Mutation ; Obesity/*genetics ; Rats ; *Weight Gain ; }, }
@article {pmid8787944, year = {1996}, author = {Ingalls, AM and Dickie, MM and Snell, GD}, title = {Obese, a new mutation in the house mouse.}, journal = {Obesity research}, volume = {4}, number = {1}, pages = {101}, doi = {10.1002/j.1550-8528.1996.tb00519.x}, pmid = {8787944}, issn = {1071-7323}, mesh = {Animals ; History, 20th Century ; Mice ; Mice, Obese/*genetics ; Obesity/*genetics ; }, }
@article {pmid8787943, year = {1996}, author = {Danforth, CH}, title = {Hereditary adiposity in mice.}, journal = {Obesity research}, volume = {4}, number = {1}, pages = {96-100}, doi = {10.1002/j.1550-8528.1996.tb00518.x}, pmid = {8787943}, issn = {1071-7323}, mesh = {Adipose Tissue ; Albinism/genetics ; Animals ; Body Composition ; Hair Color/genetics ; History, 20th Century ; Mice ; Mice, Obese/*genetics ; Obesity/*genetics ; }, }
@article {pmid8779152, year = {1996}, author = {Golubovskiĭ, MD and Aleksandrov, IuN}, title = {[A classic of Russian genetics (on the 90th birthday of S. M. Gershenzon)].}, journal = {TSitologiia i genetika}, volume = {30}, number = {1}, pages = {77-80, 3 of cover}, pmid = {8779152}, issn = {0564-3783}, mesh = {Genetics/history ; History, 20th Century ; Russia ; USSR ; Virology/history ; }, }
@article {pmid8553034, year = {1995}, author = {Mathis, M}, title = {[Scientific raisins from 125 years SMW (Swiss Medical Weekly). Familial colon carcinoma. A pedigree from canton Aargau. 1926].}, journal = {Schweizerische medizinische Wochenschrift}, volume = {125}, number = {50}, pages = {2449-2454}, pmid = {8553034}, issn = {0036-7672}, mesh = {Adenomatous Polyposis Coli/genetics/*history ; History, 20th Century ; Humans ; Pedigree ; }, }
@article {pmid8538298, year = {1995}, author = {Häggblom, L and Sanner, G}, title = {[Joint hypermobility, skin hyper-elasticity, connective tissue fragility: classical symptoms of Ehlers-Danlos syndrome].}, journal = {Lakartidningen}, volume = {92}, number = {50}, pages = {4809-4813}, pmid = {8538298}, issn = {0023-7205}, mesh = {Denmark ; Dermatology/*history ; Ehlers-Danlos Syndrome/diagnosis/genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Paris ; Pedigree ; }, }
@article {pmid8539738, year = {1995}, author = {Wolland, AM and Lindback, T}, title = {[Cornelia de Lange syndrome and the woman behind the syndrome].}, journal = {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke}, volume = {115}, number = {30}, pages = {3724-3726}, pmid = {8539738}, issn = {0029-2001}, mesh = {Child ; Child, Preschool ; De Lange Syndrome/diagnosis/genetics/*history ; Female ; History, 19th Century ; History, 20th Century ; Humans ; Infant ; Infant, Newborn ; Male ; Netherlands ; Pediatrics/history ; Syndrome ; }, abstract = {The phrase syndrome indicates that certain symptoms and signs run together as a clinical entity. Collectively they characterize a particular disease or abnormal condition. Some syndromes are rare, but it is important to recognize them. Correct and early diagnosis is important for the individuals concerned, and for their families. Cornelia de Lange syndrome in its classical form is a syndrome of several congenital abnormalities and mental retardation. When not fully developed the syndrome may cause diagnostic problems. The authors discuss some biographical data about Cornelia de Lange and some matters concerning the syndrome.}, }
@article {pmid7478482, year = {1995}, author = {Lörincz, P and Tímár, L and Czeizel, E}, title = {[Cases of diseases registered with the Genetic Counseling Service during the past 20 years, in the light of their etiology].}, journal = {Orvosi hetilap}, volume = {136}, number = {44}, pages = {2385-2388}, pmid = {7478482}, issn = {0030-6002}, mesh = {Consanguinity ; Family Planning Services ; Female ; Genetic Counseling/*history ; Genetic Diseases, Inborn/classification/epidemiology/*genetics ; History, 20th Century ; Humans ; Hungary/epidemiology ; Infant Mortality ; Infant, Newborn ; Male ; Mutation ; Teratogens ; }, abstract = {The authors analyse the experiences of their Genetic Counseling Clinic between 1979-1992. They show the formation of the motives of presenting and consulting. They range the consultants in three etiological categories (genetical, teratological and clinical entities). The proportion of new consultants increased fourfold and this tendency documents unambiguously the claim of family planners for this very important medical service. The proportion of Mendelian disorders, mutagen risk and consanguinity are relatively continuous. Because of teratogen risk the rate of presenting decreased moderately. The proportion of consultants shows a definite increase of multifactorial frequent disorders, which they value as a favorable tendency. For decreasing of unjustified cases they suggest the necessity of pre-screening.}, }
@article {pmid8748019, year = {1995}, author = {Barton, NH and Wilson, I}, title = {Genealogies and geography.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {349}, number = {1327}, pages = {49-59}, doi = {10.1098/rstb.1995.0090}, pmid = {8748019}, issn = {0962-8436}, mesh = {Gene Frequency ; *Genealogy and Heraldry ; Genes/genetics ; *Genetics, Population ; Genotype ; Humans ; Mathematics ; }, abstract = {Any sample of genes traces back to a single common ancestor. Each gene also has other properties: its sequence, its geographic location and the phenotype and fitness of the organism that carries it. With sexual reproduction, different genes have different genealogies, which gives us much more information, but also greatly complicates population genetic analysis. We review the close relation between the distribution of genealogies and the classic theory of identity by descent in spatially structured populations, and develop a simple diffusion approximation to the distribution of coalescence times in a homogeneous two-dimensional habitat. This shows that when neighbourhood size is large (as in most populations) only a small fraction of pairs of genes are closely related, and only this fraction gives information about current rates of gene flow. The increase of spatial dispersion with lineage age is thus a poor estimator of gene flow. The bulk of the genealogy depends on the long-term history of the population; we discuss ways of inferring this history from the concordance between genealogies across loci.}, }
@article {pmid8521157, year = {1995}, author = {Laurence, JZ and Moon, RC}, title = {Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.}, journal = {Obesity research}, volume = {3}, number = {4}, pages = {400-403}, doi = {10.1002/j.1550-8528.1995.tb00166.x}, pmid = {8521157}, issn = {1071-7323}, mesh = {Female ; History, 19th Century ; Humans ; Laurence-Moon Syndrome/genetics/*history ; Male ; Ophthalmoscopy/history ; Retinitis Pigmentosa/genetics/*history ; }, }
@article {pmid7597407, year = {1995}, author = {Hanhart, E}, title = {[Scientific raisins from 125 years SMW (Swiss Medical Weekly). Contribution to constitutional and hereditary research with the help of studies on hereditary ataxia (46 new cases of Friedreich's disease). 1923].}, journal = {Schweizerische medizinische Wochenschrift}, volume = {125}, number = {23}, pages = {1185-1189}, pmid = {7597407}, issn = {0036-7672}, mesh = {Friedreich Ataxia/genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid8521292, year = {1995}, author = {Avery, OT and MacLeod, CM and McCarty, M}, title = {Studies on the chemical nature of the substance inducing transformation of pneumococcal types. Induction of transformation by a desoxyribonucleic acid fraction isolated from Pneumococcus type III. 1944.}, journal = {Molecular medicine (Cambridge, Mass.)}, volume = {1}, number = {4}, pages = {344-365}, pmid = {8521292}, issn = {1076-1551}, mesh = {DNA, Bacterial/*history ; History, 20th Century ; Streptococcus pneumoniae/*genetics ; *Transformation, Bacterial ; }, }
@article {pmid7488943, year = {1995}, author = {Bender, MA}, title = {Cytogenetics research in radiation biology.}, journal = {Stem cells (Dayton, Ohio)}, volume = {13 Suppl 1}, number = {}, pages = {172-181}, pmid = {7488943}, issn = {1066-5099}, mesh = {Animals ; Cell Death/radiation effects ; Chromosome Aberrations ; *Cytogenetics/history ; DNA Damage ; Dose-Response Relationship, Radiation ; History, 20th Century ; Humans ; Linear Energy Transfer ; Models, Biological ; Mutation ; Neoplasms, Radiation-Induced/etiology/genetics ; *Radiobiology/history ; Research/history ; }, abstract = {Radiation cytogenetics goes back approximately six decades and not only contributed to the earliest development of radiobiology, but continues to contribute today. Contributions on three levels are outlined here. Early contributions to radiobiological theory include the nature of dose-effect curves, dose-rate and fractionation effects, and linear energy transfer (LET) effects. Understanding of the roles of aberrations in endpoints such as cell killing, mutation and carcinogenesis have more recently contributed to unraveling mechanisms in these important radiobiological effects. Finally, the study of various details of classical radiation cytogenetics, such as half chromatid exchange or sister chromatid union, has contributed to our current understanding of cytogenetic phenomena on the molecular level.}, }
@article {pmid7628072, year = {1995}, author = {Scriver, CR}, title = {Whatever happened to PKU?.}, journal = {Clinical biochemistry}, volume = {28}, number = {2}, pages = {137-144}, doi = {10.1016/0009-9120(94)00076-8}, pmid = {7628072}, issn = {0009-9120}, mesh = {Female ; Genetic Heterogeneity ; History, 20th Century ; Humans ; Male ; Mutation ; Phenylketonurias/genetics/*history ; }, abstract = {The history of PKU is one of science in the discovery of an inborn error of metabolism and a chemical cause of mental retardation; and also one of technology with the development of methods to prevent disease. PKU is the classic example of success in the prevention of a genetic disease. Meanwhile, the science has continued to evolve over the 60 years since the discovery of PKU, generating new understanding of its clinical and metabolic phenotypes and about phenylalanine hydroxylation. At least five known genes are involved in hydroxylation of phenylalanine, synthesis of tetrahybrobiopterin and regeneration of this cofactor. The genes have been cloned and mutations characterized for several enzymes (GTPCH, 6-PTPS, PHS/DoCH, DHPR, PAH). A new animal model (the enu mouse) is contributing to knowledge about pathogenesis of brain disease and potential new treatments. The human phenylalanine hydroxylase gene (PAH) itself harbors 99% of the mutations causing hyperphenylalaninemia, over 170 different mutations have been identified at this locus. They cause loss of function; none affecting regulation has been identified. The aggregate PKU gene frequency at 1% is polymorphic in many human populations and mutations are highly stratified by region and population reflecting a variety of mechanisms (founder effect, genetic drift, hypermutability and, perhaps, selection) for their occurrence and distribution.}, }
@article {pmid7602088, year = {1995}, author = {Johnston, TD}, title = {The influence of Weismann's germ-plasm theory on the distinction between learned and innate behavior.}, journal = {Journal of the history of the behavioral sciences}, volume = {31}, number = {2}, pages = {115-128}, doi = {10.1002/1520-6696(199504)31:2&lt;115::aid-jhbs2300310202&gt;3.0.co;2-k}, pmid = {7602088}, issn = {0022-5061}, mesh = {Behavioral Sciences/*history ; Biological Evolution ; Genetics, Behavioral ; *Germ Cells ; History, 20th Century ; Humans ; *Instinct ; *Learning ; Selection, Genetic ; }, abstract = {Since the early twentieth century it has been common in both psychology and behavioral biology to draw a sharp distinction between learned and innate behavior, or elements of behavior. The persistence of this dichotomy may be attributed in part to the fundamental importance of the separation of inherited and acquired characters within neo-Darwinian evolutionary theory, one of the essential foundations for the modern study of behavior. A cornerstone of early neo-Darwinian thought was August Weismann's theory of the germ plasm, which proposed a segregation between germinal and somatic cells during development, thus ruling out the possibility that acquired characters could be inherited. This denial of Lamarckian hereditary mechanisms became one of the hallmarks of neo-Darwinism, as opposed to classical Darwinism. Within the neo-Darwinian framework it thus became important, as Weismann himself pointed out, to distinguish sharply between inherited and acquired characters. Although the dichotomy has frequently been criticized it remains tenacious, surfacing in different guises as older versions of it became terminologically unacceptable. The analysis offered here suggests that this tenacity may partly be explained by the implications of Weismann's germ-plasm theory, and its modern incarnation in the central dogma of molecular genetics, and by the central thematic position of those ideas in the neo-Darwinian foundations of modern behavioral biology.}, }
@article {pmid8718799, year = {1995}, author = {Vrbová, H}, title = {[Analysis of the literary legacy of Professor Josef Charvát].}, journal = {Sbornik lekarsky}, volume = {96}, number = {2}, pages = {147-155}, pmid = {8718799}, issn = {0036-5327}, mesh = {Czech Republic ; History, 20th Century ; Humans ; Internal Medicine/history ; }, abstract = {The literary inheritance of Professor Joseph Charvát (1897-1984) consists of 10 monographs and 545 other titles, some of which have not appeared in the public press. The author himself arranged his original papers written in Czech as well as other European languages, reviews, essays on health education, publicistic discourses and Varia chronologically from 1922 till 1981. His literary inheritance reflects the history of the Czech internal medicine, the Czech medical faculty of Charles University in Prague and the Czech society and illustrates the broad field of interests of the author. As a disciple of Joseph Pelnár, he was a broadly oriented internist and a classic of the Czech academic medicine. He is recognized as the founder of Czechoslovak endocrinology and one of the founders of behavioural medicine (21). He was interested in medical education (12) and promotion of clinical science and research. He predicted the significance of biocybernetics, clinical genetics and social medicine and public health for the further development of health sciences. His literary inheritance reflects his civic responsibility, courage and authority he enjoyed in the Czech society during the Thirties, the Forties and the Sixties. His work gives evidence of his activities in the World Health Organization and on Economic and Social Council of the Advisory Committee of United Nations, concerning the application of science and technology to the general world development (13, 14, 15, 16). Professor Joseph Charvát's inheritance has not only historical relevance as it contains specific entities, such as holistic approach to medicine, science, men and human society, which should be rediscovered in the present time. Important is also his warning that the progress of humanistic subjects in medicine lags behind the advances in natural science and technology. Professor Charvát offers an interesting concept of creativity. His mastery of communication and his ethical reflexion on scientific knowledge in natural sciences are of lasting value. The dominant principle of his attitude toward problem solving, in medicine and in the society as well, is a positive feedback concept.}, }
@article {pmid8563453, year = {1995}, author = {Reagan, LJ}, title = {Linking midwives and abortion in the Progressive Era.}, journal = {Bulletin of the history of medicine}, volume = {69}, number = {4}, pages = {569-598}, pmid = {8563453}, issn = {0007-5140}, mesh = {Abortion, Induced/*history ; Female ; History, 19th Century ; History, 20th Century ; Humans ; Midwifery/*history ; Obstetrics/history ; Pregnancy ; United States ; }, }
@article {pmid8563251, year = {1995}, author = {Li, P and Waldo, D and Pineo, S and Foster, P}, title = {An efficient delivery of historical information for the Mendelian Inheritance in Man database.}, journal = {Proceedings. Symposium on Computer Applications in Medical Care}, volume = {}, number = {}, pages = {127-131}, pmid = {8563251}, issn = {0195-4210}, mesh = {Database Management Systems ; *Databases, Factual/history ; *Genetics, Medical ; History, 20th Century ; Humans ; Online Systems ; Programming Languages ; Quality Control ; *Software ; }, abstract = {The ability to manage information with regard to changes in a database is critical for quality control. This information can also provide audit trails about the time of the change and the person who made the change. In addition, historical information can provide the proper context in which to interpret the relationships between the current and past data. In most genomic databases, only the most recent copy of the information is presented to the user, thereby losing the audit trail and the historical context. Therefore, we have constructed a delivery mechanism for the historical information in the Mendelian Inheritance in Man database. Furthermore, this feature was designed to optionally display only the changes so that the user can bypass the unchanged portions of the text. It was anticipated that technical problems would influence the acceptance of this information delivery. However, the involvement of the editorial staff became the critical factor.}, }
@article {pmid8534508, year = {1995}, author = {Grubb, R}, title = {Perspectives and future directions. Immunogenetics.}, journal = {Experimental and clinical immunogenetics}, volume = {12}, number = {3}, pages = {217-221}, doi = {10.1159/000424874}, pmid = {8534508}, issn = {0254-9670}, mesh = {Autoimmune Diseases/genetics/immunology ; Blood Group Antigens/genetics ; Disease Susceptibility/immunology ; Forecasting ; Genetic Predisposition to Disease ; HLA Antigens/genetics ; History, 20th Century ; Humans ; Immunogenetics/history/*trends ; Immunoglobulin Allotypes/genetics ; Rh-Hr Blood-Group System/genetics/history ; Risk Assessment ; Virus Diseases/genetics/immunology ; }, abstract = {An outline of the history of immunogenetics is presented. The usefulness of the Rh, HLA and Gm systems in disease prediction and prevention will increase with our capacity precisely to relate polymorphic variants to particular functions and pathophysiological events. Alloimmunization to Gm markers is common in rheumatoid arthritis, an allegedly autoimmune disease. This paradox and the paradox of nonnominal allotypes, disobeying Mendelian rules, are resolved by the interpretation that herpesviruses may transfer nonself polymorphic genes. Transduction of such genes may be important also in AIDS pathogenesis.}, }
@article {pmid7762985, year = {1995}, author = {Bertranpetit, J and Sala, J and Calafell, F and Underhill, PA and Moral, P and Comas, D}, title = {Human mitochondrial DNA variation and the origin of Basques.}, journal = {Annals of human genetics}, volume = {59}, number = {1}, pages = {63-81}, doi = {10.1111/j.1469-1809.1995.tb01606.x}, pmid = {7762985}, issn = {0003-4800}, support = {GMS 20467/GM/NIGMS NIH HHS/United States ; GMS 28428/GM/NIGMS NIH HHS/United States ; }, mesh = {Base Sequence ; DNA, Mitochondrial/*genetics ; Emigration and Immigration ; Ethnicity/*genetics/history ; Europe ; Gene Frequency ; Genetic Markers ; History, Modern 1601- ; Humans ; Italy ; Middle East ; Molecular Sequence Data ; Polymerase Chain Reaction ; Population Dynamics ; Spain ; White People/genetics ; }, abstract = {The hypervariable segment I of the control region of the mtDNA (positions 16024-16383) was PCR-amplified from mouth scrape and hairs and sequenced in 45 unrelated individuals of pure matrilineal Basque descent. Twenty-seven different sequences were found, of which 21 are unique to the Basques. The allelic partition observed, together with resampling experiments, suggested that much more variation remained to be discovered. The mean pairwise difference in number of nucleotides between individuals was 3-15, a very low value. Moreover, the number of steps for the most parsimonious tree is very low compared to the number of different sequences. Both findings suggest that the Basque population was founded by a few lineages that diverged in a short time span. The number of nucleotide differences between individuals was shown not to be influenced by the distance between their birthplaces, thus validating the sampling strategy used a posteriori. The pairwise difference distribution agreed well with the three-parameter model proposed by Rogers &amp; Harpending (1992). The parameter estimates found for the Basques implied that a demographic expansion (or perhaps two, given the bimodal shape of the distribution) took place sometime between 14500 and 42000 BP which is in agreement with archaeological data. Our sample was compared to other populations for which D-loop sequences were available through the Nei &amp; Miller (1990) distance. In a neighbour-joining tree, all the Caucasoid samples, including the Basques, appeared tightly clustered, whereas African samples were the most distant to the Caucasoids and also the most heterogeneous. Although classical markers, such as blood groups and protein polymorphisms, clearly separate the Basques (and the Sardinians) from other European populations, this distinctiveness was not found using D-loop sequences.}, }
@article {pmid7766954, year = {1994}, author = {Følling, I}, title = {The discovery of phenylketonuria.}, journal = {Acta paediatrica (Oslo, Norway : 1992). Supplement}, volume = {407}, number = {}, pages = {4-10}, doi = {10.1111/j.1651-2227.1994.tb13440.x}, pmid = {7766954}, issn = {0803-5326}, mesh = {Awards and Prizes ; History, 20th Century ; Humans ; Intellectual Disability/history ; Norway ; Phenylketonurias/genetics/*history/urine ; Philosophy ; United States ; }, abstract = {In 1934, two severely mentally retarded children were examined by Dr Asbjørn Følling. He proved, by classical organic chemistry, that they excreted phenylpyruvic acid in their urine. The substance was also found in the urine of eight additional mentally retarded patients. Based on these observations, oligophrenia phenylpyrouvica (later termed phenylketonuria) was described as a new inborn error of metabolism. Følling later showed the pattern of an autosomal recessive genetic disease, probably caused by a block in phenylalanine metabolism, and that asymptomatic heterozygote carriers of the trait could be detected by phenylalanine loading. The stepwise elucidation and the line of reasoning are described. Phenylketonuria was the first inborn error of metabolism shown to affect the mind, and its importance as a model disease is emphasized. The article finally gives some insight into aspects of the personality of the discoverer.}, }
@article {pmid16355522, year = {1994}, author = {von Verschuer, O}, title = {Hereditary biological research. 1927.}, journal = {Obesity research}, volume = {2}, number = {6}, pages = {624-629}, doi = {10.1002/j.1550-8528.1994.tb00113.x}, pmid = {16355522}, issn = {1071-7323}, mesh = {Body Weights and Measures/history ; Environment ; History, 20th Century ; Humans ; Obesity/etiology/genetics/*history ; Twin Studies as Topic/*history ; }, }
@article {pmid16355521, year = {1994}, author = {Davenport, CB}, title = {Body-build and its inheritance. 1923.}, journal = {Obesity research}, volume = {2}, number = {6}, pages = {606-623}, doi = {10.1002/j.1550-8528.1994.tb00112.x}, pmid = {16355521}, issn = {1071-7323}, mesh = {Body Composition/genetics ; Female ; History, 20th Century ; Humans ; Male ; Obesity/genetics/history ; Somatotypes/*genetics ; Thinness/genetics/history ; }, }
@article {pmid7821729, year = {1994}, author = {De Meyts, P}, title = {The structural basis of insulin and insulin-like growth factor-I receptor binding and negative co-operativity, and its relevance to mitogenic versus metabolic signalling.}, journal = {Diabetologia}, volume = {37 Suppl 2}, number = {}, pages = {S135-48}, pmid = {7821729}, issn = {0012-186X}, mesh = {Amino Acid Sequence ; Animals ; *Awards and Prizes ; Belgium ; Cell Division ; *Diabetes Mellitus/history ; Europe ; Exons ; History, 20th Century ; Humans ; Insulin/*physiology ; Insulin-Like Growth Factor I/*physiology ; Macromolecular Substances ; Models, Molecular ; Models, Structural ; Receptor, IGF Type 1/chemistry/genetics/*physiology ; Receptor, Insulin/chemistry/genetics/*physiology ; *Signal Transduction ; Societies, Medical ; }, abstract = {Insulin and insulin-like growth factor-I exhibit a set of non-classical receptor binding properties suggestive of negative co-operativity or site-site interactions between the two receptor halves: curvilinear Scatchard plots, acceleration of dissociation of bound labelled ligand at high dilution in the presence of unlabelled ligand. The alpha 2 beta 2 receptor dimer binds only one ligand molecule with high affinity. The dose-response curve for the acceleration of 125I-insulin by unlabelled insulin is bell-shaped, with a disappearance of the negative co-operativity at insulin concentrations over 0.1 mumol/l. This phenomenon had been attributed to insulin dimerization, but new data with non-dimerizing analogues and insulins modified at the hexamer-forming surface indicate the presence of a second binding site on the insulin molecule's hexamer face. This site binds to a second domain on the receptor. A new binding model for insulin and insulin-like growth factor-I is proposed where the bivalent ligand bridges the two receptor alpha subunits alternatively at opposite sites in a symmetrical receptor structure. The implications of the model for negative co-operativity, bell-shaped biological curves, and the divergence between mitogenic and metabolic signalling are discussed in the context of the evolution of the properties of insulin and insulin-like growth factor-I.}, }
@article {pmid8192198, year = {1994}, author = {Kallmann, FJ}, title = {The genetic theory of schizophrenia. An analysis of 691 schizophrenic twin index families. 1946.}, journal = {The American journal of psychiatry}, volume = {151}, number = {6 Suppl}, pages = {188-198}, doi = {10.1176/ajp.151.6.188}, pmid = {8192198}, issn = {0002-953X}, mesh = {Diseases in Twins/*history ; History, 20th Century ; Humans ; Psychiatry/history ; Schizophrenia/*history ; }, }
@article {pmid8085089, year = {1994}, author = {Cruz-Coke, R}, title = {[The evolution theory in the medical sciences in Chile].}, journal = {Revista medica de Chile}, volume = {122}, number = {2}, pages = {211-214}, pmid = {8085089}, issn = {0034-9887}, mesh = {*Biological Evolution ; Chile ; History, 19th Century ; History, 20th Century ; }, abstract = {The evolutionist ideas of Lamarck, Darwin and Haeckel entered the country through the arrival of their books. "On the origin of Species" arrived in Chile in 1869. The most outstanding immigrant european physicians that discussed these ideas were Rodulfo A Phillippi (1808-1904) and Juan José Brunner (1825-1899). Both discussed Darwin's ideas in their books and conferences as academics of the Faculty of Medicine of the University of Chile. The first Chilean physicians that read and discussed the validity of evolution theory were Adolfo Valderrama (1834-1902) and Pedro Candia Salgado. Both wrote articles about this matter in Revista Médica de Chile in 1872 and 1874. The professor of general biology, Juan Noé Crevani, italian physician and zoologist that arrived in Chile in 1912, was the first to teach directly the concepts of the evolution theory until his death in 1947. Professor Noé founded the great biological school of the twentieth century in Chile and his disciples introduced the concepts of Mendelian theory and neodarwinism in the decade of fifties. The theory of evolution was taught as a chapter of general biology in the Faculty of Medicine between 1913 and 1947, but its practical applications to medicine were introduced with the birth of medical genetics in the decade of fifties and the foundation of Chilean Genetics society in 1964, under the direction of professors Danko Brncic and Gustavo Hoecker, both awarded with the National Sciences Prize.}, }
@article {pmid8005636, year = {1994}, author = {Bhende, YM and Deshpande, CK and Bhatia, HM and Sanger, R and Race, RR and Morgan, WT and Watkins, WM}, title = {A "new" blood-group character related to the ABO system. 1952.}, journal = {The Indian journal of medical research}, volume = {99}, number = {}, pages = {3 p.}, pmid = {8005636}, issn = {0971-5916}, mesh = {ABO Blood-Group System/genetics/*history/immunology ; History, 20th Century ; Humans ; Male ; }, }
@article {pmid11644519, year = {1994}, author = {Nissani, M}, title = {Psychological, historical, and ethical reflections on the Mendelian paradox.}, journal = {Perspectives in biology and medicine}, volume = {37}, number = {2}, pages = {182-196}, doi = {10.1353/pbm.1994.0027}, pmid = {11644519}, issn = {0031-5982}, mesh = {Deception ; Fraud ; *Genetics ; *History ; History, 19th Century ; Humans ; Psychology ; Research Personnel ; Science ; *Scientific Misconduct ; }, }
@article {pmid11640025, year = {1994}, author = {Czihak, G and Rassem, T}, title = {Dawn of human genetics.}, journal = {NTM}, volume = {2}, number = {3}, pages = {175-182}, pmid = {11640025}, issn = {0036-6978}, mesh = {Europe ; Genetics/*history ; History, 19th Century ; Humans ; }, abstract = {Several physicians of the 19th century had a fair knowledge of the transmission of some human hereditary traits. Critical examination of pedigrees culminated in formulation of a "law of heredity" (!) before the rediscovery of Mendel's classical paper in 1900.}, }
@article {pmid8280741, year = {1993}, author = {Horowitz, SL and Chabora, AJ}, title = {A translation of Christopher Jacob Trew's article, "Observations presenting examples of missing palate. 1757.}, journal = {The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association}, volume = {30}, number = {6}, pages = {593-594}, doi = {10.1597/1545-1569_1993_030_0593_opeomp_2.3.co_2}, pmid = {8280741}, issn = {1055-6656}, mesh = {Cleft Lip/*history/pathology ; Cleft Palate/*history/pathology ; Germany ; History, 18th Century ; Humans ; Palate/pathology ; }, abstract = {The following "Observation" appeared (in Latin) in the Deutsche Akademie der Naturforscher Leopoldina of 1757 and to our knowledge has never been published in the English literature. We came across the report in the early 1970s while preparing the report "Cleft lip and cleft palate: one genetic system" (Chabora and Horowitz, 1974). The 1757 paper was translated by a member of the Columbia University Greek and Latin Department, but reached us too late for inclusion in our references. Forgotten for many years, the paper, and its translation, recently came to light in our files. Christopher Jacob Trew's clear description of penetrance and expressivity in a kindred in which both cleft lip and palate and isolated cleft palate are segregating may be something of an historic curiosity at this point, but we expect that others will enjoy reading this early example of a careful and thoughtful pedigree study.}, }
@article {pmid8279481, year = {1993}, author = {Beighton, P and Sujansky, E and Patzak, B and Portele, KA}, title = {Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.}, journal = {American journal of medical genetics}, volume = {47}, number = {6}, pages = {843-847}, doi = {10.1002/ajmg.1320470609}, pmid = {8279481}, issn = {0148-7299}, mesh = {Achondroplasia/genetics/pathology ; Adult ; Austria ; Bone Diseases, Developmental/*genetics/pathology ; Bone and Bones/*pathology ; Cleidocranial Dysplasia/genetics/pathology ; Exostoses, Multiple Hereditary/genetics/pathology ; Female ; Humans ; Infant ; Male ; Marfan Syndrome/genetics/pathology ; Middle Aged ; *Museums ; *Pathology ; Rickets/genetics/*pathology ; }, abstract = {Skeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study. Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed.}, }
@article {pmid8239698, year = {1993}, author = {Goldsmith, LA}, title = {Mendelism in early 20th-century American dermatology.}, journal = {Archives of dermatology}, volume = {129}, number = {11}, pages = {1405-1408}, pmid = {8239698}, issn = {0003-987X}, mesh = {Dermatology/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/history ; Periodicals as Topic ; Textbooks as Topic ; United States ; Writing ; }, abstract = {Now, almost a century ago since Mendel's work was rediscovered, is a propitious time to review the appearance of mendelian concepts in American dermatology. In our world of instantaneous and sometimes overwhelming dissemination of new information and the apparent rapid incorporation of new knowledge into our specialty, it is useful to examine how heredity was incorporated in the dermatologic literature in the first 25 years of the 20th century. The dermatologic literature serves as a surrogate for the thought of the era.}, }
@article {pmid8222248, year = {1993}, author = {Goldberg, DM and Diamandis, EP}, title = {Models of neoplasia and their diagnostic implications: a historical perspective.}, journal = {Clinical chemistry}, volume = {39}, number = {11 Pt 2}, pages = {2360-2374}, pmid = {8222248}, issn = {0009-9147}, mesh = {History, 20th Century ; Humans ; *Models, Biological ; Neoplasm Metastasis ; Neoplasms/chemically induced/diagnosis/etiology/genetics/*history ; Phenotype ; }, abstract = {In comparison with normal cells, cancer cells have an enhanced ability to trap both nitrogen and energy; an enhanced operation of the glycolytic and direct oxidative pathways, leading to accumulation of lactate and increased production of NADPH; and a greater content of lysosomal hydrolases. These changes represent a reprogramming of gene expression, which, at its most specific, is accompanied by the reappearance in the cell and ultimately in the body fluids of oncodevelopmental proteins not normally found in mature adult tissues. The most florid stage of this reprogramming leads to the metastatic phenotype, which confers upon the cancer cell the ability to stimulate angiogenesis, invade the bloodstream and lymphatic vessel, and arrest and proliferate in distant tissues. The diagnostic implications of these phenotypic changes are illustrated for cancer of the cervix uteri and cancer of the colon. We also review the classical theories of neoplasia, including the cellular anoxia concept of Warburg, the deletion hypothesis of Potter, and various other mechanisms emphasizing genomic derepression and impaired immunity. The critical steps in chemical carcinogenesis are described, and the Vogelstein-Lane model is presented, emphasizing the stepwise and cumulative genomic changes affecting chromosomes 5q, 17p, 18q, and gene amplification of chromosome 12 as well as genomic instability resulting from reduced DNA methylation. The main consequences of these genomic alterations include overexpression or activation of oncogenes such as c-myc and k-ras, together with mutation or functional inactivation of suppressor genes such as p53. Finally, the implications of these findings for diagnosis and management are illustrated by reference to recent investigations in cancers of the breast, colon, and bladder, in which these genomic alterations can be detected by examination of appropriate cellular material and by detection in serum of antibodies to the p53 gene product.}, }
@article {pmid8210994, year = {1993}, author = {Tonegawa, S}, title = {The Nobel Lectures in Immunology. The Nobel Prize for Physiology or Medicine, 1987. Somatic generation of immune diversity.}, journal = {Scandinavian journal of immunology}, volume = {38}, number = {4}, pages = {303-319}, doi = {10.1111/j.1365-3083.1993.tb01731.x}, pmid = {8210994}, issn = {0300-9475}, mesh = {*Allergy and Immunology/history ; *Antibody Diversity ; Awards and Prizes ; *Genes, Immunoglobulin ; History, 20th Century ; Humans ; *Nobel Prize ; Receptors, Antigen, T-Cell/*genetics ; }, }
@article {pmid7688132, year = {1993}, author = {Portin, P}, title = {The concept of the gene: short history and present status.}, journal = {The Quarterly review of biology}, volume = {68}, number = {2}, pages = {173-223}, doi = {10.1086/418039}, pmid = {7688132}, issn = {0033-5770}, mesh = {Animals ; Chromosomes ; DNA/genetics ; Eukaryotic Cells/physiology ; Europe ; Gene Expression Regulation ; *Genes ; Genetic Code ; Genetic Techniques/history ; Genetics/*history ; History, 20th Century ; Humans ; Models, Genetic ; Prokaryotic Cells/physiology ; Protein Biosynthesis ; Proteins/genetics ; RNA/genetics ; United States ; }, abstract = {The concept of the gene is and has always been a continuously evolving one. In order to provide a structure for understanding the concept, its history is divided into classical, neoclassical, and modern periods. The classical view prevailed into the 1930s, and conceived the gene as an indivisible unit of genetic transmission, recombination, mutation, and function. The discovery of intragenic recombination in the early 1940s and the establishment of DNA as the physical basis of inheritance led to the neoclassical concept of the gene, which prevailed until the 1970s. In this view the gene (or cistron, as it was called then) was subdivided into its constituent parts, mutons and recons, identified as nucleotides. Each cistron was believed to be responsible for the synthesis of a single mRNA and hence for one polypeptide. This colinearity hypothesis prevailed from 1955 to the 1970s. Starting from the early 1970s, DNA technologies have led to the modern period of gene conceptualization, wherein none of the classical or neoclassical criteria are sufficient to define a gene. Modern discoveries include those of repeated genes, split genes and alternative splicing, assembled genes, overlapping genes, transposable genes, complex promoters, multiple polyadenylation sites, polyprotein genes, editing of the primary transcript, and nested genes. We are currently left with a rather abstract, open, and generalized concept of the gene, even though our comprehension of the structure and organization of the genetic material has greatly increased.}, }
@article {pmid8272644, year = {1993}, author = {Cruz-Coke, R}, title = {[Fiftieth anniversary of classical genetics of professor Noe (1943-1993)].}, journal = {Revista medica de Chile}, volume = {121}, number = {5}, pages = {581-587}, pmid = {8272644}, issn = {0034-9887}, mesh = {Chile ; Education, Medical/history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Schools, Medical/history ; Universities/history ; }, abstract = {Fifty years ago, the author was a student of Dr Juan Noé's general biology course. Dr Noé, an italian physician and biologist, was the most outstanding european teacher in Chile during the first half of twentieth century (1912-1947) and was the founder of the "Instituto de Biología de la Universidad de Chile". In 1943 Dr Noé taught to the author the classical genetics of that age that included basic concepts of mendelian theory, evolution, comparative anatomy, cytogenetics, eugenics and normal and pathological inheritance. He also undertook controversial problems of those times such as eugenics, racism, humanism and the ambiguity about "inherited defects" associated to syphilis, alcoholism and tuberculosis. The author received a firm education on the history of biological sciences, mendelism, evolution and genetic etiology of classical hereditary diseases such as hemophilia, daltonism, Huntington chorea and muscular dystrophy. Furthermore, Noé made mention of the hereditary etiology of cancer in animals and human leukemias and of the concept of polygenic diseases as a consequence inheritance-environment interactions. The author concludes emphasizing the importance of basic and clinical education in the teaching of medical genetics.}, }
@article {pmid8464129, year = {1993}, author = {Watson, JD and Crick, FH}, title = {Genetical implications of the structure of deoxyribonucleic acid. 1953.}, journal = {JAMA}, volume = {269}, number = {15}, pages = {1967-1969}, pmid = {8464129}, issn = {0098-7484}, mesh = {DNA/*history ; History, 20th Century ; Molecular Structure ; }, }
@article {pmid11653014, year = {1993}, author = {Charo, RA}, title = {Effect of the Human Genome Initiative on women's rights and reproductive decisions.}, journal = {Fetal diagnosis and therapy}, volume = {8}, number = {Suppl. 1}, pages = {148-159}, doi = {10.1159/000263882}, pmid = {11653014}, issn = {1015-3837}, mesh = {Abortion, Eugenic ; Abortion, Induced ; Civil Rights ; Coercion ; Compensation and Redress ; Contraception ; Decision Making ; Economics ; Eugenics ; Female ; Fetal Diseases/diagnosis ; Genetic Diseases, Inborn/diagnosis/prevention &amp; control ; *Genetic Testing ; *Human Genome Project ; Humans ; International Cooperation ; Internationality ; *Jurisprudence ; Liability, Legal ; Mandatory Testing ; Physicians ; Population Control ; Pregnancy ; *Prenatal Diagnosis ; Public Policy ; *Reproduction ; Social Justice ; *Social Responsibility ; Socioeconomic Factors ; Sterilization, Reproductive ; United States ; Value of Life ; Voluntary Programs ; Vulnerable Populations ; Women ; *Women's Rights ; Wrongful Life ; }, abstract = {The Human Genome Project is likely to exacerbate historic tendencies to balance demographic concerns on the backs of women. This kind of policy is unjustified in law and violates classic theories of justice. Reproductive decision making, which affects women personally, is not the legitimate domain of community concern or manipulation.}, }
@article {pmid8298509, year = {1993}, author = {Panek, AD}, title = {Yeast--100 years of contribution to biochemistry.}, journal = {Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas}, volume = {26}, number = {4}, pages = {337-341}, pmid = {8298509}, issn = {0100-879X}, mesh = {Biochemistry/*history ; History, 19th Century ; History, 20th Century ; Research/history ; Yeasts/*metabolism ; }, abstract = {For centuries mankind has benefited from yeast for its survival as well as for joy and even solace in moments of pain. Today the yeast cell is considered a universal model yielding answers to important and intriguing questions about cell division, differentiation, transduction of signals and cell disorders. Classical and molecular genetic methods have been successfully applied to understand the association of genes with proteins and functions-a knowledge which has also led to the development of new biotechnologies.}, }
@article {pmid11541390, year = {1993}, author = {Sagan, L}, title = {On the origin of mitosing cells. 1967.}, journal = {The Journal of NIH research : life sciences research and news about the National Institutes of Health and the Alcohol, Drug Abuse, and Mental Health Administration}, volume = {5}, number = {3}, pages = {65-72}, pmid = {11541390}, issn = {1043-609X}, mesh = {Animals ; *Biological Evolution ; Cell Physiological Phenomena ; Cyanobacteria ; Eukaryota ; Eukaryotic Cells/cytology/*physiology/*ultrastructure ; Extrachromosomal Inheritance/genetics/physiology ; Flagella ; History, 20th Century ; Mitochondria ; *Mitosis ; Oxidation-Reduction ; Photosynthesis ; Plastids ; Prokaryotic Cells/cytology/physiology/ultrastructure ; *Symbiosis ; }, abstract = {A theory of the origin of eukaryotic cells ("higher" cells which divide by classical mitosis) is presented. By hypothesis, three fundamental organelles: the mitochondria, the photosynthetic plastids and the (9+2) [9(2)+2] basal bodies [kinetosomes] of flagella [undulipodia] were themselves once free-living (prokaryotic) cells. The evolution of photosynthesis under the anaerobic [anoxic] conditions of the early atmosphere to form anaerobic bacteria, photosynthetic bacteria and eventually blue-green algae (and protoplastids) is described. The subsequent evolution of aerobic metabolism in prokayotes to form aerobic bacteria (protoflagella [undulipodia] and protomitochondria) presumably occurred during the transition to the oxidizing atmosphere. Classical mitosis evolved in protozoan-type cells millions of years after the evolution of photosynthesis. A plausible scheme for the origin of classical mitosis in primitive amoeboflagellates [amoebomastigotes] is presented. During the course of the evolution of mitosis, photosynthetic plastids (themselves derived from prokaryotes) were symbolically acquired by some of these protozoans to form the ["eukaryotic" deleted] algae and the green plants. The cytological, biochemical and paleontological evidence for this theory is presented, along with suggestions for further possible experimental verification. The implications of this scheme for the systematics of the lower [smaller] organisms is discussed.}, }
@article {pmid8456501, year = {1993}, author = {Modell, B and Kuliev, AM}, title = {A scientific basis for cost-benefit analysis of genetics services.}, journal = {Trends in genetics : TIG}, volume = {9}, number = {2}, pages = {46-52}, doi = {10.1016/0168-9525(93)90186-L}, pmid = {8456501}, issn = {0168-9525}, mesh = {Abortion, Therapeutic ; Algorithms ; *Cost-Benefit Analysis ; Eugenics ; Europe ; Female ; Genetic Counseling/*economics ; Genetic Diseases, Inborn ; Genetic Testing/*economics ; Health Policy ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis/*economics ; Resource Allocation ; State Medicine/economics ; United Kingdom ; World Health Organization ; beta-Thalassemia/genetics/prevention &amp; control ; }, abstract = {Economic appraisal of genetics services is important, but, in this sensitive area, analyses limited to financial aspects understandably cause public concern. Evaluation of these services must take account of their aim of helping everyone with a genetic disadvantage to live and reproduce as normally as possible, and must apply equally to patients and to couples at risk of having affected children. Here we propose that the classical concept of genetic fitness can be useful in evaluating genetics services, because it is measurable, and truly represents their underlying aim.}, }
@article {pmid8426537, year = {1993}, author = {Rukavina, JG and Block, WD and Jackson, CE and Falls, HF and Carey, JH and Curtis, AC}, title = {Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. 1956.}, journal = {Medicine}, volume = {72}, number = {1}, pages = {45-63; discussion 63-5}, pmid = {8426537}, issn = {0025-7974}, mesh = {Amyloidosis/*history ; History, 20th Century ; Humans ; }, }
@article {pmid8261258, year = {1993}, author = {Hopper, JL}, title = {Variance components for statistical genetics: applications in medical research to characteristics related to human diseases and health.}, journal = {Statistical methods in medical research}, volume = {2}, number = {3}, pages = {199-223}, doi = {10.1177/096228029300200302}, pmid = {8261258}, issn = {0962-2802}, mesh = {Genetic Diseases, Inborn/*genetics ; *Genetic Variation ; *Health Status ; History, 20th Century ; Humans ; *Models, Genetic ; *Models, Statistical ; Multivariate Analysis ; Pedigree ; Social Environment ; }, abstract = {RA Fisher introduced variance components in 1918. He synthesized Mendelian inheritance with Darwin's theory of evolution by showing that the genetic variance of a continuous trait could be decomposed into additive and non-additive components. The model can be extended to include environmental factors, interactions, covariation, and non-random mating. Identifiability depends critically on design. Methods of analysis include modelling the mean squares from a fixed effects analysis of variance, and covariance structure modelling, which can be extended to multivariate traits and has been used to study ordinal traits by reference to postulated, unmeasured, latent 'liabilities'. These methods operate on dependent observations within independent groups of the same size and structure, and therefore require balanced designs ('regular' pedigrees). A multivariate normal model handles data in its generic form, utilizes data efficiently from all members of pedigrees of unequal size or varying structure, accommodates individuals missing at random, and allows flexible modelling with tests of distributional assumptions and fit. Most analytical methods use least squares or maximum likelihood under normal theory. Robust methods, scale transformation, ascertainment, path diagrams and correlational path models (popular in behavioural genetics through addressing nonrandom mating and social interactions), 'heritability', and the contribution and limitations of statistical modelling to the 'nature-nurture' debate, are discussed.}, }
@article {pmid7520820, year = {1993}, author = {Cavalli-Sforza, LL and Piazza, A}, title = {Human genomic diversity in Europe: a summary of recent research and prospects for the future.}, journal = {European journal of human genetics : EJHG}, volume = {1}, number = {1}, pages = {3-18}, doi = {10.1159/000472383}, pmid = {7520820}, issn = {1018-4813}, support = {GMS20467/GM/NIGMS NIH HHS/United States ; }, mesh = {Africa ; Alleles ; Americas ; Asia ; Australia ; DNA/genetics ; Ethnicity/genetics/history ; Europe ; Gene Frequency ; Genetic Markers ; *Genetic Variation ; History, Ancient ; Human Genome Project ; Humans ; Language ; Phylogeny ; Polymorphism, Genetic ; Population Dynamics ; }, abstract = {Gene frequencies in Europe are intermediate with respect to those of other continents. A phylogenetic tree reconstructed from 95 gene frequencies tested on 26 European samples shows some deviant populations (Lapps, Sardinians, Greeks, Yugoslavs, Basques, Icelanders and Finns) and other weakly structured populations. This behavior may have a simple interpretation: Europeans have not evolved according to a tree of descent probably because of the major role played by migrations in prehistorical and historical times. The leading component of the European genetic landscape is a gradient that originates in the Middle East and is directed to the northwest. According to the hypothesis by Ammerman and Cavalli-Sforza this gradient was generated by a migration of Neolithic farmers from Anatolia followed by continuous, partial admixture of the expanding farmers with local hunter-gatherers. Other leading components of the gene frequencies in Europe show correlations with possible movements of Uralic-speaking people and pastoral nomads from a region north of the Caucasus and Black Sea, which according to Gimbutas is the area of origin of Indo-European speakers. This analysis is based on classical pre-DNA genetic markers. The prospect of future research using DNA polymorphisms is discussed in the context of the Human Genome Project.}, }
@article {pmid11652093, year = {1992}, author = {Laberge, CM and Knoppers, BM}, title = {Rationale for an integrated approach to genetic epidemiology.}, journal = {Bioethics}, volume = {6}, number = {4}, pages = {317-330}, doi = {10.1111/j.1467-8519.1992.tb00209.x}, pmid = {11652093}, issn = {0269-9702}, mesh = {Base Sequence ; Confidentiality ; Cost-Benefit Analysis ; Databases, Factual ; *Epidemiology ; Eugenics ; Freedom ; Gene Pool ; Genetic Counseling ; *Genetic Diseases, Inborn ; *Genetic Testing ; *Genetics ; Health ; Health Education ; Heterozygote ; *Human Genome Project ; Humans ; Information Dissemination ; Information Services ; International Cooperation ; Internationality ; Mass Screening ; Personal Autonomy ; Policy Making ; Prevalence ; Privacy ; Public Health ; Public Policy ; Social Justice ; Tissue Banks ; }, abstract = {Genetic knowledge is now in the public domain and its interpretation by the media and the citizens brings the issues into the public forum of discussion for the necessary ethical, legal and socio-cultural evaluation of its application. Science is being perceived by some as dangerous and as requiring international regulation. Others feel that genetic knowledge will be the breakthrough that will permit medical progress and individual autonomy with regards to personal health and lifestyle choices. The mapping of the human genome has already yielded valuable information on an increasing number of diseases and their variants. Prevailing popular and journalistic archetypes ("imaginaires") used in the media are perceived by the producers as slowing down the possible application of genetic knowledge. The answers to these dilemmas are not readily apparent nor are they prescribed by classical philosophy of medicine. Since genetic knowledge eventually resides with the individual who carries the genes of disease and/or susceptibility, a logical approach to integration of this knowledge at a societal level would seem to reside with individual education and decision-making. The politics of the ensuing social debate could transform the current social contract since an individual's interests need to be balanced against those of his or her immediate family in the sharing of information. The ethical foundations of such a contract requires the genetic education of "Everyone" as a matter of urgent priority. Genetic education should not serve ideological power struggles between the medical establishment and the ethical-legal alliance. Instead, it should ensure the transfer of knowledge to physicians, to patients, to users, to planners, to social science and humanities researchers and to politicians, so that they may make "informed" and free decisions....}, }
@article {pmid1609797, year = {1992}, author = {Lyonnet, S and Melle, D and de Braekeleer, M and Laframboise, R and Rey, F and John, SW and Berthelon, M and Berthelot, J and Journel, H and Le Marec, B}, title = {Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.}, journal = {American journal of human genetics}, volume = {51}, number = {1}, pages = {191-196}, pmid = {1609797}, issn = {0002-9297}, mesh = {Base Sequence ; France ; Genealogy and Heraldry ; Haplotypes ; Humans ; Molecular Sequence Data ; Mutation ; Phenylketonurias/*genetics ; Polymerase Chain Reaction ; Quebec ; Space-Time Clustering ; }, abstract = {We performed mutation analysis and RFLP haplotype analysis of chromosomes associated with classical phenylketonuria (PKU) in contemporary French families. We also did genealogical reconstructions for seven obligate carriers in five contemporary French-Canadian families living in eastern Quebec, who carry the M1V mutation causing PKU. The M1V mutation, heretofore considered to be associated exclusively with French-Canadians, was found on 4 of 152 independent French chromosomes. The French and Quebec M1V mutations all occurred on RFLP haplotype 2. The contemporary mutant French chromosomes clustered in southern Brittany (Finistère Sud). Genealogical reconstructions of the Quebec families identified 53 shared ancestors and a center of diffusion in the Perche region in 17th century France. The two clusters in France, one historical and the other contemporary, are not incompatible, if one assumes the possibilities that settlers returned from Nouvelle France or moved from Perche to southern Brittany. The M1V mutation is serving as a useful marker for historical demography.}, }
@article {pmid1622110, year = {1992}, author = {Pellerin, D}, title = {[Hirschsprung disease].}, journal = {Annales de gastroenterologie et d'hepatologie}, volume = {28}, number = {2}, pages = {99-103}, pmid = {1622110}, issn = {0066-2070}, mesh = {*Hirschsprung Disease/diagnosis/history/therapy ; History, 20th Century ; Humans ; }, abstract = {From fourty years new knowledges about Hirschsprung's disease have dramatically transformed classical concepts of congenital megacolon. The author emphasizes successive steps of knowledges from his personal experience of 500 patients observed at Pediatric Surgical Department, Hôpital des Enfants Malades, Paris, and his own contribution at several research programs on this topic. They concern Radiology, Manometry, Histochimy, Immunocytochimy. Using technics of molecular biology, recent progress in knowledge of neural crest cells migration towards myenteric plexus, light etiopathogenesis of the disease. Several pathological associations suggest the genetic origin of the neuro transducers defect. Whatever be the scientific interest of it, clinical lethal risk of early enterocolitis remains a daily evidence. Simple routine precocious deflation of colonic hyperpression is still the most important message to be stressed.}, }
@article {pmid1545699, year = {1992}, author = {Neel, JV}, title = {James Van Gundia Neel 1915. The clinical detection of the genetic carriers of inherited disease. 1947.}, journal = {Medicine}, volume = {71}, number = {2}, pages = {96-101; discussion 102-7}, pmid = {1545699}, issn = {0025-7974}, mesh = {*Genetic Carrier Screening ; Genetic Testing/*history ; History, 20th Century ; Humans ; }, }
@article {pmid1582573, year = {1992}, author = {Dubinin, NP}, title = {[A.S. Serebrovskiĭ's experimental studies on induced mutagenesis].}, journal = {Genetika}, volume = {28}, number = {1}, pages = {38-51}, pmid = {1582573}, issn = {0016-6758}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; *Mutagenesis ; USSR ; }, abstract = {The paper is devoted to A.S. Serebrovskiĭ's studies on induced mutagenesis. His first publication on X-ray induction of mutations in Drosophila appeared in 1928; this became a classical work and entered the golden fund of modern radiation genetics. Investigations of the scientists in the A.S. Serebrovskiĭ's laboratory as will as his own works on the analysis of radiation mutations at the achaete-scute complex have led to the development of the teaching about gene subdivision and made it possible to draw up a linear array of a gene from elementary subgenes, which have laid down the foundations of the modern molecular-genetic theory of gene.}, }
@article {pmid1422070, year = {1992}, author = {Zaug, AJ and Cech, TR}, title = {The intervening sequence RNA of Tetrahymena is an enzyme. 1986.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {57-62}, pmid = {1422070}, issn = {0740-7378}, mesh = {Animals ; History, 20th Century ; Introns/*genetics ; RNA, Catalytic/*history ; Tetrahymena/*enzymology ; }, }
@article {pmid1422069, year = {1992}, author = {Leder, H and Stewart, TA}, title = {Transgenic non-human mammals. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {556-563}, pmid = {1422069}, issn = {0740-7378}, mesh = {Animals ; History, 20th Century ; Mice ; Mice, Transgenic/*genetics ; Patents as Topic/*history ; }, }
@article {pmid1422068, year = {1992}, author = {Cohen, SN and Boyer, HW}, title = {Process for producing biologically functional molecular chimeras. 1979.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {546-555}, pmid = {1422068}, issn = {0740-7378}, mesh = {DNA, Recombinant/biosynthesis/*genetics/history ; History, 20th Century ; Patents as Topic/*history ; Recombinant Proteins/biosynthesis/*genetics/history ; }, }
@article {pmid1422067, year = {1992}, author = {Chakrabarty, AM}, title = {Microorganisms having multiple compatible degradative energy-generating plasmids and preparation thereof. 1980.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {535-545}, pmid = {1422067}, issn = {0740-7378}, mesh = {Energy Metabolism ; Genetic Engineering/history/*methods ; History, 20th Century ; Hydrocarbons/metabolism ; Patents as Topic/*history ; Plasmids/genetics ; Pseudomonas/genetics ; }, }
@article {pmid1422066, year = {1992}, author = {Orlandi, R and Güssow, DH and Jones, PT and Winter, G}, title = {Cloning immunoglobulin variable domains for expression by the polymerase chain reaction. 1989.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {527-531}, pmid = {1422066}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Cloning, Molecular/*methods ; History, 20th Century ; Immunoglobulin Variable Region/biosynthesis/*genetics ; Molecular Sequence Data ; Polymerase Chain Reaction ; Recombinant Proteins/biosynthesis/genetics ; }, }
@article {pmid1422064, year = {1992}, author = {Huse, WD and Sastry, L and Iverson, SA and Kang, AS and Alting-Mees, M and Burton, DR and Benkovic, SJ and Lerner, RA}, title = {Generation of a large combinatorial library of the immunoglobulin repertoire in phage lambda. 1989.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {517-523}, pmid = {1422064}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Animals ; Bacteriophage lambda/genetics ; Base Sequence ; *Gene Library ; History, 20th Century ; Immunoglobulin Fab Fragments/*biosynthesis/genetics ; Mice ; Molecular Sequence Data ; }, }
@article {pmid1422063, year = {1992}, author = {Wiktor, TJ and MacFarlan, RI and Reagan, KJ and Dietzschold, B and Curtis, PJ and Wunner, WH and Kieny, MP and Lathe, R and Lecocq, JP and Mackett, M}, title = {Protection from rabies by a vaccinia virus recombinant containing the rabies virus glycoprotein gene. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {508-512}, pmid = {1422063}, issn = {0740-7378}, mesh = {Animals ; *Antigens, Viral ; Glycoproteins/genetics/*immunology ; History, 20th Century ; Immunotherapy, Active ; Mice ; Rabies/*history/immunology/prevention &amp; control ; Vaccines, Synthetic/genetics/*immunology ; Vaccinia virus/genetics ; Viral Envelope Proteins/genetics/*immunology ; }, }
@article {pmid1422062, year = {1992}, author = {Panicali, D and Paoletti, E}, title = {Construction of poxviruses as cloning vectors: insertion of the thymidine kinase gene from herpes simplex virus into the DNA of infectious vaccinia virus. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {503-507}, pmid = {1422062}, issn = {0740-7378}, mesh = {Cloning, Molecular/methods ; Genetic Vectors/*genetics ; History, 20th Century ; Vaccinia virus/*genetics ; }, }
@article {pmid1422061, year = {1992}, author = {McAleer, WJ and Buynak, EB and Maigetter, RZ and Wampler, DE and Miller, WJ and Hilleman, MR}, title = {Human hepatitis B vaccine from recombinant yeast. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {500-502}, pmid = {1422061}, issn = {0740-7378}, mesh = {Evaluation Studies as Topic ; Hepatitis B/immunology/*prevention &amp; control ; Hepatitis B Surface Antigens/genetics/immunology ; History, 20th Century ; Humans ; Immunotherapy, Active ; Saccharomyces cerevisiae/genetics ; Vaccines, Synthetic/genetics/*immunology ; }, }
@article {pmid1422060, year = {1992}, author = {Mackett, M and Smith, GL and Moss, B}, title = {Vaccinia virus: a selectable eukaryotic cloning and expression vector. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {495-499}, pmid = {1422060}, issn = {0740-7378}, mesh = {Cloning, Molecular ; Eukaryotic Cells ; Genetic Markers ; Genetic Vectors/*genetics ; History, 20th Century ; Vaccinia virus/*genetics ; }, }
@article {pmid1422059, year = {1992}, author = {Emtage, JS and Tacon, WC and Catlin, GH and Jenkins, B and Porter, AG and Carey, NH}, title = {Influenza antigenic determinants are expressed from haemagglutinin genes cloned in Escherichia coli. 1980.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {491-494}, pmid = {1422059}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Antigens, Viral/*biosynthesis/genetics/immunology ; Base Sequence ; Escherichia coli/genetics ; Hemagglutinin Glycoproteins, Influenza Virus ; Hemagglutinins, Viral/*biosynthesis/genetics/immunology ; History, 20th Century ; Influenza A virus/*genetics/immunology ; Molecular Sequence Data ; Recombinant Proteins/biosynthesis/genetics/immunology ; }, }
@article {pmid1422058, year = {1992}, author = {Edman, JC and Hallewell, RA and Valenzuela, P and Goodman, HM and Rutter, WJ}, title = {Synthesis of hepatitis B surface and core antigens in E. coli. 1981.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {487-490}, pmid = {1422058}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Escherichia coli/genetics ; Hepatitis B Core Antigens/*biosynthesis/genetics ; Hepatitis B Surface Antigens/*biosynthesis/genetics ; History, 20th Century ; Molecular Sequence Data ; Recombinant Proteins/biosynthesis/genetics ; }, }
@article {pmid1422057, year = {1992}, author = {Solomon, E and Bodmer, WF}, title = {Evolution of sickle variant gene. 1979.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {481}, pmid = {1422057}, issn = {0740-7378}, mesh = {Anemia, Sickle Cell/*genetics ; Biological Evolution ; Genetic Variation ; Globins/*genetics ; History, 20th Century ; Humans ; }, }
@article {pmid1422056, year = {1992}, author = {Saiki, RK and Scharf, S and Faloona, F and Mullis, KB and Horn, GT and Erlich, HA and Arnheim, N}, title = {Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 1985.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {476-480}, pmid = {1422056}, issn = {0740-7378}, mesh = {Anemia, Sickle Cell/*diagnosis/genetics ; Base Sequence ; Gene Amplification ; Globins/genetics ; History, 20th Century ; Humans ; Molecular Sequence Data ; }, }
@article {pmid1422055, year = {1992}, author = {Kan, WY and Golbus, MS and Dozy, AM}, title = {Prenatal diagnosis of alpha-thalassemia clinical application of molecular hybridization. 1976.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {473-475}, pmid = {1422055}, issn = {0740-7378}, mesh = {Globins/genetics ; History, 20th Century ; Humans ; Nucleic Acid Hybridization ; Prenatal Diagnosis/*methods ; alpha-Thalassemia/*diagnosis/genetics ; }, }
@article {pmid1422054, year = {1992}, author = {Jeffreys, AJ and Wilson, V and Thein, SL}, title = {Hypervariable 'minisatellite' regions in human DNA. 1985.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {467-472}, pmid = {1422054}, issn = {0740-7378}, mesh = {Base Sequence ; DNA, Satellite/*isolation &amp; purification ; Genetic Variation ; Genome, Human ; History, 20th Century ; Humans ; Molecular Sequence Data ; }, }
@article {pmid1422053, year = {1992}, author = {Hoffman, EP and Brown, RH and Kunkel, LM}, title = {Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {457-466}, pmid = {1422053}, issn = {0740-7378}, mesh = {Animals ; Dystrophin/biosynthesis/genetics/immunology/*isolation &amp; purification ; Genes/genetics ; History, 20th Century ; Humans ; Male ; Mice ; Mice, Mutant Strains ; Muscular Dystrophies/genetics/*history ; Muscular Dystrophy, Animal/genetics ; Tissue Distribution ; }, }
@article {pmid1422052, year = {1992}, author = {Wigler, M and Sweet, R and Sim, GK and Wold, B and Pellicer, A and Lacy, E and Maniatis, T and Silverstein, S and Axel, R}, title = {Transformation of mammalian cells with genes from prokaryotes and eukaryotes. 1979.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {444-452}, pmid = {1422052}, issn = {0740-7378}, mesh = {Animals ; Eukaryotic Cells ; Globins/genetics ; History, 20th Century ; Mice ; Prokaryotic Cells ; Thymidine Kinase/genetics ; Transformation, Genetic/*genetics ; }, }
@article {pmid1422051, year = {1992}, author = {Smith, GE and Summers, MD and Fraser, MJ}, title = {Production of human beta interferon in insect cells infected with a baculovirus expression vector. 1983.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {434-443}, pmid = {1422051}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Animals ; Baculoviridae/genetics ; Base Sequence ; Cells, Cultured ; Genetic Vectors/genetics ; History, 20th Century ; Humans ; Interferon-beta/*biosynthesis/genetics ; Molecular Sequence Data ; Moths ; Transfection/genetics ; }, }
@article {pmid1422050, year = {1992}, author = {Palmiter, RD and Brinster, RL and Hammer, RE and Trumbauer, ME and Rosenfeld, MG and Birnberg, NC and Evans, RM}, title = {Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {429-433}, pmid = {1422050}, issn = {0740-7378}, mesh = {Animals ; Genes/genetics ; Growth Hormone/*biosynthesis/genetics ; History, 20th Century ; Metallothionein/genetics ; Mice ; Mice, Transgenic/genetics/*growth &amp; development ; Promoter Regions, Genetic/genetics ; }, }
@article {pmid1422049, year = {1992}, author = {Gordon, K and Lee, E and Vitale, JA and Smith, AE and Westphal, H and Hennighausen, L}, title = {Production of human tissue plasminogen activator in transgenic mouse milk. 1987.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {425-428}, pmid = {1422049}, issn = {0740-7378}, mesh = {Animals ; History, 20th Century ; Humans ; Mice ; Mice, Transgenic/*genetics ; Milk/metabolism ; Plasminogen Activators/*biosynthesis/genetics ; }, }
@article {pmid1422048, year = {1992}, author = {Alt, FW and Kellems, RE and Bertino, JR and Schimke, RT}, title = {Selective multiplication of dihydrofolate reductase genes in methotrexate-resistant variants of cultured murine cells. 1978.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {397-410}, pmid = {1422048}, issn = {0740-7378}, mesh = {Animals ; DNA Replication ; Drug Resistance/genetics ; History, 20th Century ; Methotrexate/*pharmacology ; Mice ; Tetrahydrofolate Dehydrogenase/*genetics ; Tumor Cells, Cultured/enzymology ; }, }
@article {pmid1422047, year = {1992}, author = {Paszkowski, J and Shillito, RD and Saul, M and Vandak, V and Hohn, T and Hohn, B and Potrykus, I}, title = {Direct gene transfer to plants. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {387-392}, pmid = {1422047}, issn = {0740-7378}, mesh = {Genetic Vectors/*genetics ; History, 20th Century ; Plants, Toxic ; Tobacco/genetics ; Transfection/genetics/*methods ; }, }
@article {pmid1422046, year = {1992}, author = {Klein, RM and Wolf, ED and Wu, R and Sanford, JC}, title = {High-velocity microprojectiles for delivering nucleic acids into living cells. 1987.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {384-386}, pmid = {1422046}, issn = {0740-7378}, mesh = {Allium/genetics ; History, 20th Century ; Plants/*genetics ; Transfection/*methods ; }, }
@article {pmid1422045, year = {1992}, author = {Hooykaas-Van Slogteren, GM and Hooykaas, PJ and Schilperoort, RA}, title = {Expression of Ti plasmid genes in monocotyledonous plants infected with Agrobacterium tumefaciens. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {382-383}, pmid = {1422045}, issn = {0740-7378}, mesh = {Agrobacterium tumefaciens/genetics ; Genetic Vectors/*genetics ; History, 20th Century ; Plants/genetics/microbiology ; Plasmids/genetics ; *Transfection ; }, }
@article {pmid1422044, year = {1992}, author = {Herrera-Estrella, L and Depicker, A and Van Montagu, M and Schell, J}, title = {Expression of chimaeric genes transferred into plant cells using a Ti-plasmid-derived vector. 1983.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {377-381}, pmid = {1422044}, issn = {0740-7378}, mesh = {Agrobacterium tumefaciens/genetics ; Base Sequence ; Genetic Vectors/*genetics ; History, 20th Century ; Molecular Sequence Data ; Plants, Toxic ; Plasmids/*genetics ; Recombinant Proteins/biosynthesis ; Tobacco/genetics ; }, }
@article {pmid1422043, year = {1992}, author = {Hernalsteens, JP and Van Vliet, F and De Beuckeleer, M and Depicker, A and Engler, G and Lemmers, M and Holsters, M and Van Montagu, M and Schell, J}, title = {The Agrobacterium tumefaciens Ti plasmid as a host vector system for introducing foreign DNA in plant cells. 1980.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {374-376}, pmid = {1422043}, issn = {0740-7378}, mesh = {Agrobacterium tumefaciens/genetics ; Genetic Vectors/*genetics ; History, 20th Century ; Plants, Toxic ; Plasmids/*genetics ; Tobacco/genetics ; Transfection/*methods ; }, }
@article {pmid1422042, year = {1992}, author = {Gronenborn, B and Gardner, RC and Schaefer, S and Shepherd, RJ}, title = {Propagation of foreign DNA in plants using cauliflower mosaic virus as vector. 1981.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {371-373}, pmid = {1422042}, issn = {0740-7378}, mesh = {Base Sequence ; Brassica/genetics ; DNA Replication ; DNA, Recombinant/metabolism ; Genetic Vectors/*genetics ; History, 20th Century ; Molecular Sequence Data ; Mosaic Viruses/*genetics ; }, }
@article {pmid1422041, year = {1992}, author = {Bevan, MW and Flavell, RB and Chilton, MD}, title = {A chimaeric antibiotic resistance gene as a selectable marker for plant cell transformation. 1983.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {367-370}, pmid = {1422041}, issn = {0740-7378}, mesh = {Agrobacterium tumefaciens/genetics ; Drug Resistance/genetics ; Genetic Vectors/genetics ; Gentamicins/*pharmacology ; History, 20th Century ; Plants/*genetics ; *Transformation, Genetic ; }, }
@article {pmid1422040, year = {1992}, author = {Talmadge, K and Kaufman, J and Gilbert, W}, title = {Bacteria mature preproinsulin to proinsulin. 1980.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {358-362}, pmid = {1422040}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Animals ; Escherichia coli/genetics ; History, 20th Century ; Insulin ; Molecular Sequence Data ; Proinsulin/*biosynthesis/genetics/*metabolism ; Protein Precursors/genetics/*metabolism ; *Protein Processing, Post-Translational ; Protein Sorting Signals/genetics/metabolism ; Rats ; Recombinant Fusion Proteins/biosynthesis/genetics/history ; }, }
@article {pmid1422039, year = {1992}, author = {Struhl, K and Cameron, JR and Davis, RW}, title = {Functional genetic expression of eukaryotic DNA in Escherichia coli. 1976.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {353-357}, pmid = {1422039}, issn = {0740-7378}, mesh = {Escherichia coli/genetics ; History, 20th Century ; Hydro-Lyases/*biosynthesis/genetics ; Recombinant Proteins/biosynthesis/genetics/history ; Saccharomyces cerevisiae/enzymology/*genetics ; Transfection ; }, }
@article {pmid1422038, year = {1992}, author = {Schoner, RG and Ellis, LF and Schoner, BE}, title = {Isolation and purification of protein granules from Escherichia coli cells overproducing bovine growth hormone. 1985.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {349-352}, pmid = {1422038}, issn = {0740-7378}, mesh = {Animals ; Cattle ; *Cytoplasmic Granules ; Escherichia coli/*genetics ; Growth Hormone/*biosynthesis/genetics ; History, 20th Century ; Protein Engineering/history ; Recombinant Proteins/biosynthesis/genetics/history ; }, }
@article {pmid1422037, year = {1992}, author = {Palva, I and Sarvas, M and Lehtovaara, P and Sibakov, M and Kääriäinen, L}, title = {Secretion of Escherichia coli beta-lactamase from Bacillus subtilis by the aid of alpha-amylase signal sequence. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {344-348}, pmid = {1422037}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Bacillus subtilis/genetics ; Base Sequence ; Escherichia coli/enzymology/*genetics ; History, 20th Century ; Molecular Sequence Data ; Protein Engineering/history ; Protein Sorting Signals/genetics ; alpha-Amylases/genetics ; beta-Lactamases/*genetics/metabolism ; }, }
@article {pmid1422036, year = {1992}, author = {Malpartida, F and Hopwood, DA}, title = {Molecular cloning of the whole biosynthetic pathway of a Streptomyces antibiotic and its expression in a heterologous host. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {342-343}, pmid = {1422036}, issn = {0740-7378}, mesh = {Anthraquinones/metabolism ; *Cloning, Molecular ; Genes, Fungal/genetics ; History, 20th Century ; Recombinant Proteins/biosynthesis/genetics/history ; Streptomyces/*genetics ; }, }
@article {pmid1422035, year = {1992}, author = {Hinnen, A and Hicks, JB and Fink, GR}, title = {Transformation of yeast. 1978.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {337-341}, pmid = {1422035}, issn = {0740-7378}, mesh = {History, 20th Century ; Saccharomyces cerevisiae/*genetics ; *Transformation, Genetic ; }, }
@article {pmid1422034, year = {1992}, author = {Chang, AC and Nunberg, JN and Kaufman, RJ and Erlich, HA and Schimke, RT and Cohen, SN}, title = {Phenotypic expression in E. coli of a DNA sequence coding for mouse dihydrofolate reductase. 1978.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {330-336}, pmid = {1422034}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Animals ; Base Sequence ; *Cloning, Molecular ; Genetic Vectors/genetics ; History, 20th Century ; Mice ; Molecular Sequence Data ; Recombinant Proteins/biosynthesis/genetics/history ; Tetrahydrofolate Dehydrogenase/biosynthesis/*genetics ; }, }
@article {pmid1422033, year = {1992}, author = {Bitter, GA and Chen, KK and Banks, AR and Lai, PH}, title = {Secretion of foreign proteins from Saccharomyces cerevisiae directed by alpha-factor gene fusions. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {325-329}, pmid = {1422033}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; *Cloning, Molecular ; History, 20th Century ; Interferon-alpha/genetics/metabolism ; Mating Factor ; Molecular Sequence Data ; Peptides/genetics/metabolism ; Protein Engineering/history ; Proteins/genetics/*metabolism ; Recombinant Fusion Proteins/biosynthesis/history/metabolism ; Saccharomyces cerevisiae/*genetics ; beta-Endorphin/genetics/metabolism ; }, }
@article {pmid1422032, year = {1992}, author = {Villa-Komaroff, L and Efstratiadis, A and Broome, S and Lomedico, P and Tizard, R and Naber, SP and Chick, WL and Gilbert, W}, title = {A bacterial clone synthesizing proinsulin. 1978.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {316-320}, pmid = {1422032}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Animals ; Base Sequence ; Cloning, Molecular/*methods ; History, 20th Century ; Molecular Sequence Data ; Proinsulin/biosynthesis/*genetics/history ; Rats ; Recombinant Proteins/biosynthesis/genetics/history ; }, }
@article {pmid1422031, year = {1992}, author = {Toole, JJ and Knopf, JL and Wozney, JM and Sultzman, LA and Buecker, JL and Pittman, DD and Kaufman, RJ and Brown, E and Showemaker, C and Orr, EC}, title = {Molecular cloning of a cDNA encoding human antihaemophilic factor. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {310-315}, pmid = {1422031}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Cloning, Molecular/*methods ; Factor VII/biosynthesis/*genetics/history ; History, 20th Century ; Humans ; Molecular Sequence Data ; Recombinant Proteins/biosynthesis/genetics/history ; }, }
@article {pmid1422030, year = {1992}, author = {Taniguchi, T and Matsui, H and Fujita, T and Takaoka, C and Kashima, N and Yoshimoto, R and Hamuro, J}, title = {Structure and expression of a cloned cDNA for human interleukin-2. 1983.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {304-309}, pmid = {1422030}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Cloning, Molecular/*methods ; Genetic Vectors/genetics ; History, 20th Century ; Humans ; Interleukin-2/biosynthesis/*genetics/history ; Molecular Sequence Data ; Recombinant Proteins/biosynthesis/history ; }, }
@article {pmid1422029, year = {1992}, author = {Nagata, S and Taira, H and Hall, A and Johnsrud, L and Streuli, M and Ecsödi, J and Boll, W and Cantell, K and Weissmann, C}, title = {Synthesis in E. coli of a polypeptide with human leukocyte interferon activity. 1980.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {299-303}, pmid = {1422029}, issn = {0740-7378}, mesh = {Cloning, Molecular ; Escherichia coli/genetics ; History, 20th Century ; Humans ; Interferon-alpha/biosynthesis/*genetics/history ; Recombinant Proteins/biosynthesis/history ; }, }
@article {pmid1422028, year = {1992}, author = {Martial, JA and Hallewell, RA and Baxter, JD and Goodman, HM}, title = {Human growth hormone: complementary DNA cloning and expression in bacteria. 1979.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {293-298}, pmid = {1422028}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Growth Hormone/biosynthesis/*genetics ; History, 20th Century ; Humans ; Molecular Sequence Data ; Recombinant Proteins/biosynthesis/history ; }, }
@article {pmid1422027, year = {1992}, author = {Gitschier, J and Wood, WI and Goralka, TM and Wion, KL and Chen, EY and Eaton, DH and Vehar, GA and Capon, DJ and Lawn, RM}, title = {Characterization of the human factor VIII gene. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {288-292}, pmid = {1422027}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Factor VIII/*genetics ; History, 20th Century ; Humans ; Molecular Sequence Data ; }, }
@article {pmid1422026, year = {1992}, author = {Tabor, S and Richardson, CC}, title = {A bacteriophage T7 RNA polymerase/promoter system for controlled exclusive expression of specific genes. 1985.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {280-284}, pmid = {1422026}, issn = {0740-7378}, mesh = {Bacteriophage T7/enzymology/*genetics ; Base Sequence ; DNA-Directed RNA Polymerases/*genetics ; Gene Expression Regulation ; Genetic Vectors/*genetics ; History, 20th Century ; Molecular Sequence Data ; Viral Proteins ; }, }
@article {pmid1422024, year = {1992}, author = {Okayama, H and Berg, P}, title = {A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells. 1983.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {270-279}, pmid = {1422024}, issn = {0740-7378}, mesh = {Base Sequence ; *Cloning, Molecular ; Eukaryotic Cells ; Genetic Vectors/*genetics ; History, 20th Century ; Molecular Sequence Data ; *Transfection ; }, }
@article {pmid1422023, year = {1992}, author = {Haseloff, J and Gerlach, WL}, title = {Simple RNA enzymes with new and highly specific endoribonuclease activities. 1988.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {264-269}, pmid = {1422023}, issn = {0740-7378}, mesh = {Base Sequence ; History, 20th Century ; Molecular Sequence Data ; Plant Viruses/genetics/metabolism ; RNA, Catalytic/genetics/history/*metabolism ; RNA, Viral/genetics/*metabolism ; Substrate Specificity ; }, }
@article {pmid1422021, year = {1992}, author = {Coleman, J and Green, PJ and Inouye, M}, title = {The use of RNAs complementary to specific mRNAs to regulate the expression of individual bacterial genes. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {253-260}, pmid = {1422021}, issn = {0740-7378}, mesh = {Base Sequence ; Gene Expression Regulation, Bacterial/*drug effects ; Genes, Bacterial/genetics ; History, 20th Century ; Molecular Sequence Data ; RNA, Antisense/history/metabolism/*pharmacology ; RNA, Messenger/genetics ; }, }
@article {pmid1422020, year = {1992}, author = {Ullrich, A and Shine, J and Chirgwin, J and Pictet, R and Tischer, E and Rutter, WJ and Goodman, HM}, title = {Rat insulin genes: construction of plasmids containing the coding sequences. 1977.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {243-249}, pmid = {1422020}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Animals ; Base Sequence ; Cloning, Molecular/*methods ; History, 20th Century ; Insulin/*genetics ; Molecular Sequence Data ; Rats ; }, }
@article {pmid1422019, year = {1992}, author = {Rougeon, F and Kourilsky, P and Mach, B}, title = {Insertion of a rabbit beta-globin gene sequence into an E. coli plasmid. 1975.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {229-242}, pmid = {1422019}, issn = {0740-7378}, mesh = {Cloning, Molecular/*methods ; Escherichia coli/genetics ; Genetic Vectors/genetics ; Globins/*genetics ; History, 20th Century ; Plasmids/genetics ; Transfection ; }, }
@article {pmid1422018, year = {1992}, author = {Rimm, DL and Horness, D and Kucera, J and Blattner, FR}, title = {Construction of coliphage lambda charon vectors with BamH1 cloning sites. 1980.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {220-228}, pmid = {1422018}, issn = {0740-7378}, mesh = {Bacteriophage lambda/genetics ; Cloning, Molecular/*methods ; Deoxyribonuclease BamHI/metabolism ; Escherichia coli/genetics ; Genetic Vectors/*genetics ; History, 20th Century ; }, }
@article {pmid1422017, year = {1992}, author = {Okayama, H and Berg, P}, title = {High-efficiency cloning of full-length cDNA. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {210-219}, pmid = {1422017}, issn = {0740-7378}, mesh = {Base Sequence ; Cloning, Molecular/*methods ; DNA, Single-Stranded/genetics ; History, 20th Century ; Molecular Sequence Data ; }, }
@article {pmid1422016, year = {1992}, author = {Messing, J and Vieira, J}, title = {A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {202-209}, pmid = {1422016}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Bacteriophage M13/genetics ; Base Sequence ; Cloning, Molecular/*methods ; Genetic Vectors/*genetics ; History, 20th Century ; Molecular Sequence Data ; }, }
@article {pmid1422015, year = {1992}, author = {Mandel, M and Higa, A}, title = {Calcium-dependent bacteriophage DNA infection. 1970.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {198-201}, pmid = {1422015}, issn = {0740-7378}, mesh = {Calcium/*pharmacology ; *Cell Transformation, Viral ; Coliphages/drug effects/genetics ; History, 20th Century ; }, }
@article {pmid1422014, year = {1992}, author = {Collins, J and Hohn, B}, title = {Cosmids: a type of plasmid gene-cloning vector that is packageable in vitro in bacteriophage lamda heads. 1978.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {193-197}, pmid = {1422014}, issn = {0740-7378}, mesh = {Bacteriophage lambda/genetics ; Base Sequence ; Cloning, Molecular/*methods ; Cosmids/*history ; History, 20th Century ; Molecular Sequence Data ; }, }
@article {pmid1422013, year = {1992}, author = {Cohen, SN and Chang, AC and Boyer, HW and Helling, RB}, title = {Construction of biologically functional bacterial plasmids in vitro. 1973.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {188-192}, pmid = {1422013}, issn = {0740-7378}, mesh = {DNA, Recombinant/*history ; Escherichia coli/genetics ; Genetic Vectors/*genetics ; History, 20th Century ; Plasmids/*genetics/ultrastructure ; Replicon/genetics ; }, }
@article {pmid1422012, year = {1992}, author = {Clarke, L and Carbon, J}, title = {A colony bank containing synthetic Col El hybrid plasmids representative of the entire E. coli genome. 1976.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {179-187}, pmid = {1422012}, issn = {0740-7378}, mesh = {Bacteriocin Plasmids/genetics ; Cloning, Molecular/*methods ; Escherichia coli/genetics ; *Gene Library ; History, 20th Century ; Plasmids/genetics ; }, }
@article {pmid1422011, year = {1992}, author = {Burke, DT and Carle, GF and Olson, MV}, title = {Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. 1987.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {172-178}, pmid = {1422011}, issn = {0740-7378}, mesh = {Base Sequence ; *Cloning, Molecular/methods ; Genetic Vectors/genetics ; History, 20th Century ; Molecular Sequence Data ; Yeasts/*genetics ; }, }
@article {pmid1422009, year = {1992}, author = {Bolivar, F and Rodriguez, RL and Greene, PJ and Betlach, MC and Heynker, HL and Boyer, HW and Crosa, JH and Falkow, S}, title = {Construction and characterization of new cloning vehicles. II. A multipurpose cloning system. 1977.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {153-171}, pmid = {1422009}, issn = {0740-7378}, mesh = {*Cloning, Molecular ; DNA, Recombinant/genetics ; Escherichia coli/genetics ; History, 20th Century ; Plasmids/genetics ; }, }
@article {pmid1422007, year = {1992}, author = {Suggs, SV and Wallace, RB and Hirose, T and Kawashima, EH and Itakura, K}, title = {Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta 2-microglobulin. 1981.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {140-144}, pmid = {1422007}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; History, 20th Century ; Molecular Sequence Data ; Nucleic Acid Hybridization/*history ; Oligodeoxyribonucleotides/chemical synthesis/genetics ; Oligonucleotide Probes/chemical synthesis/genetics ; beta 2-Microglobulin/genetics ; }, }
@article {pmid1422005, year = {1992}, author = {Grunstein, M and Hogness, DS}, title = {Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene. 1975.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {117-121}, pmid = {1422005}, issn = {0740-7378}, mesh = {DNA, Recombinant/genetics/*isolation &amp; purification ; DNA, Ribosomal/genetics/isolation &amp; purification ; History, 20th Century ; Nucleic Acid Hybridization/*history ; }, }
@article {pmid1384843, year = {1992}, author = {Cone, RD and Mulligan, RC}, title = {High-efficiency gene transfer into mammalian cells: generation of helper-free recombinant retrovirus with broad mammalian host range. 1984.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {420-424}, pmid = {1384843}, issn = {0740-7378}, mesh = {Animals ; Cells, Cultured ; *Genetic Vectors ; History, 20th Century ; Humans ; RNA/genetics ; Retroviridae/genetics ; Species Specificity ; Transfection/*methods ; }, }
@article {pmid1358295, year = {1992}, author = {Itakura, K and Tadaaki, H and Crea, R and Riggs, AD and Heyneker, HL and Bolivar, F and Boyer, HW}, title = {Expression in Escherichia coli of a chemically synthesized gene for the hormone somatostatin. 1977.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {84-91}, pmid = {1358295}, issn = {0740-7378}, mesh = {Amino Acid Sequence ; Base Sequence ; Escherichia coli/genetics ; *Genes, Synthetic ; History, 20th Century ; Molecular Sequence Data ; Somatostatin/biosynthesis/*genetics ; }, }
@article {pmid1330119, year = {1992}, author = {Brinster, RL and Chen, HY and Trumbauer, M and Senear, AW and Warren, R and Palmiter, RD}, title = {Somatic expression of herpes thymidine kinase in mice following injection of a fusion gene into eggs. 1982.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {411-419}, pmid = {1330119}, issn = {0740-7378}, mesh = {Animals ; DNA, Recombinant/genetics ; Genes, Viral/genetics ; History, 20th Century ; Mice ; Mice, Transgenic/*genetics ; Ovum ; Simplexvirus/*enzymology/genetics ; Thymidine Kinase/*biosynthesis/genetics ; }, }
@article {pmid1330117, year = {1992}, author = {Jackson, DA and Symons, RH and Berg, P}, title = {Biochemical method for inserting new genetic information into DNA of simian virus 40: circular SV40 DNA molecules containing lambda phage genes and the galactose operon of Escherichia coli. 1972.}, journal = {Biotechnology (Reading, Mass.)}, volume = {24}, number = {}, pages = {11-16}, pmid = {1330117}, issn = {0740-7378}, mesh = {Base Sequence ; DNA, Recombinant/*history ; Genetic Vectors/genetics ; History, 20th Century ; Molecular Sequence Data ; Simian virus 40/genetics ; }, }
@article {pmid1817150, year = {1991}, author = {Bridges, KM}, title = {A genetic study of the emotions. 1930.}, journal = {The Journal of genetic psychology}, volume = {152}, number = {4}, pages = {487-499}, doi = {10.1080/00221325.1991.9914709}, pmid = {1817150}, issn = {0022-1325}, mesh = {Emotions/*physiology ; History, 20th Century ; Humans ; *Models, Genetic ; }, }
@article {pmid1809495, year = {1991}, author = {Pellerin, D}, title = {[Hirschsprung disease].}, journal = {Bulletin de l'Academie nationale de medecine}, volume = {175}, number = {8}, pages = {1239-48; discussion 1249-50}, pmid = {1809495}, issn = {0001-4079}, mesh = {Hirschsprung Disease/*history ; History, 20th Century ; Humans ; }, abstract = {From forty years new knowledges about Hirschsprung's disease have dramatically transformed classical concepts of congenital megacolon. The author emphasizes successive steps of knowledges fron his personal experience of 500 patients observed at Pediatric Surgical Department, Hôpital des Enfants Malades, Paris, and own contribution at several research programs on this topic. They concern Radiology, Manometry, Histochemistry, Immunocytochemistry. Using technics of molecular biology, recent progress in knowledge of neural crest cells migration towards myenteric plexus, light etiopathogenesis of the disease. Several pathological associations suggest the genetic origin of the neuro transducers defect. Whatever be the scientific interest of it, clinical lethal risk of early enterocolitis remains a daily evidence. Simple routine precocious deflation of colonic hyperpression is still the most important message to be stressed.}, }
@article {pmid1757645, year = {1991}, author = {Van Vleck, LD}, title = {C. R. Henderson: farm boy, athlete, and scientist.}, journal = {Journal of dairy science}, volume = {74}, number = {11}, pages = {4082-4096}, doi = {10.3168/jds.S0022-0302(91)78603-7}, pmid = {1757645}, issn = {0022-0302}, mesh = {Breeding/history ; History, 20th Century ; Iowa ; New York ; Statistics as Topic/history ; }, abstract = {Charles R. Henderson was proud to be a product of a farm in Page County, Iowa. He was a one man track team in Coin, Iowa, and a brilliant student. He became a world class competitor in track at Iowa State College and, at the same time, compiled a top academic record. His early experiences set the stage for the exceptional contributions of his animal breeding career, which did not begin until he was nearly 40 yr of age, but which spanned 40 yr when he was the acknowledged leader in development of statistical methodology applied to animal breeding. His career goals were to find the best possible ways to analyze data and to provide the best genetic evaluations to the livestock industry. If the best could not be done because of computational limitations, then he would pragmatically work to find the best way that was possible. Only his interest in Cornell hockey overshadowed his enjoyment in listening to classical music. He was an avid sports fan, especially for the St. Louis Cardinals or any midwestern team against the New York Yankees. Midwestern trips during the weeks when the Drake Relays were held were as often as possible. Henderson's acknowledged scientific hero was Jay L. Lush, with whom he studied during his Ph.D. program at Iowa State College and with whom he shared similar talents and the intuition that made both of them leaders in the field of animal breeding.}, }
@article {pmid11653948, year = {1991}, author = {Zohar, NJ}, title = {Prospects for "genetic therapy" -- can a person benefit from being altered?.}, journal = {Bioethics}, volume = {5}, number = {4}, pages = {275-288}, doi = {10.1111/j.1467-8519.1991.tb00168.x}, pmid = {11653948}, issn = {0269-9702}, mesh = {*Beginning of Human Life ; *Embryo, Mammalian ; Eugenics ; Fetal Diseases/*therapy ; *Fetus ; Genetic Diseases, Inborn ; *Genetic Therapy ; Germ Cells ; Human Genome Project ; Humans ; *Individuality ; Judaism ; *Life ; Moral Obligations ; Parents ; *Pedigree ; *Personhood ; Philosophy ; Quality of Life ; Religion ; Risk ; Risk Assessment ; Self Concept ; Social Responsibility ; Theology ; Value of Life ; Wounds and Injuries ; Wrongful Life ; }, abstract = {Mapping the human genome is an immense project with numerous objectives. Indeed, it is likely that some of its most important ramifications and applications remain as yet unglimpsed. All we can presently attempt is to focus on some of the more obvious possibilities and prepare for the problems already looming on our horizon. One such possibility is that of Prenatal Genetic Intervention (PGI), which might be said to be a therapeutic intervention on behalf of the embryonic child. In this paper, I argue that "genetic therapy" is likely to be a misnomer, and that if PGI becomes possible, we should generally resist its inclusion under the special moral duty of providing health care. "Therapy" necessarily means helping a person, while PGI -- though effecting improvements from an impersonal perspective -- will frequently not consist in directly helping any person. This is due not to the embryo not being a person, but rather to the basic philosophical problem of personal identity persisting through significant alterations -- especially the alteration of genotype. The decisive moral question then hinges on the definition of "significant" alteration. I shall examine the feasibility of drawing analogies from criteria for personal identity proposed in discussions of how persons maintain their identity across time and through physical and psychological change. Certain metaphysical aspects of human identity and individuality will be also touched upon, partly in terms derived from classical Judaism. In conclusion I argue that, regarding embryos in particular, persistence of genotype must generally be deemed a necessary condition for maintaining personal identity. Therefore, many proposals for PGI should be excluded from the notion of therapeutic intervention and thus denied the special moral status of requests for therapy.}, }
@article {pmid1765476, year = {1991}, author = {Hsia, YE and Hardman, JA and Jim, RT and Wilkinson, WR and McKinney, W and Alvarez-Pacpaco, E}, title = {Hereditary anemias in Hawaii. 1987.}, journal = {Hawaii medical journal}, volume = {50}, number = {9}, pages = {334-340}, pmid = {1765476}, issn = {0017-8594}, support = {MJI-153562//PHS HHS/United States ; }, mesh = {Anemia/epidemiology/*history/prevention &amp; control ; Genetic Diseases, Inborn/epidemiology/*history/prevention &amp; control ; Hawaii/epidemiology ; History, 20th Century ; }, abstract = {The differential diagnosis of microcytic anemias in Hawaii presents special problems because of the hereditary anemias prevalent in its large Asian subpopulations. Both the alpha- and beta-thalassemias are important because of morbidity and mortality. Heterozygous carriers for either type mimic iron deficiency, which may lead to inappropriate work-up or treatment. The thalassemias and hemoglobin (Hb) variants are all benign in heterozygotes, but if a couple are both heterozygous for the same or for incompatible variants, their children have 25% risk of inheriting a serious anemia. These can be prevented by detecting the heterozygotes, and by offering genetic counseling and fetal testing to couples at risk of having severely affected children. Early detection is also possible by the screening of newborns. Fetal diagnosis, or early detection and treatment, can greatly reduce the consequences of these anemias. Screening and prevention will cost far less than the cost of care for affected patients.}, }
@article {pmid11656135, year = {1991}, author = {Riddle, JM}, title = {Oral contraceptives and early-term abortifacients during classical antiquity and the Middle Ages.}, journal = {Past &amp; present}, volume = {No. 132}, number = {}, pages = {3-32}, pmid = {11656135}, issn = {0031-2746}, mesh = {*Abortion, Induced ; *Contraception ; *History ; *History, Ancient ; *History, Medieval ; Humans ; Infertility ; International Cooperation ; Internationality ; Medicine, Traditional ; *Pharmaceutical Preparations ; Plants ; Population Control ; Records ; }, }
@article {pmid1676824, year = {1991}, author = {Ballard, HS and Frame, B and Hartsock, RJ}, title = {Familial multiple endocrine adenoma-peptic ulcer complex. 1964.}, journal = {Medicine}, volume = {70}, number = {4}, pages = {281-3; discussion 283-5}, pmid = {1676824}, issn = {0025-7974}, mesh = {History, 20th Century ; Humans ; Multiple Endocrine Neoplasia/genetics/*history ; Peptic Ulcer/genetics/*history ; }, }
@article {pmid1851532, year = {1991}, author = {Scriver, CR and Tenenhouse, HS and Glorieux, FH}, title = {X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958.}, journal = {Medicine}, volume = {70}, number = {3}, pages = {218-228}, pmid = {1851532}, issn = {0025-7974}, mesh = {Animals ; History, 20th Century ; Humans ; Hypophosphatemia, Familial/*genetics/history ; }, }
@article {pmid1851531, year = {1991}, author = {Winters, RW and Graham, JB and Williams, TF and McFalls, VW and Burnett, CH}, title = {A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. 1958.}, journal = {Medicine}, volume = {70}, number = {3}, pages = {215-217}, pmid = {1851531}, issn = {0025-7974}, mesh = {History, 20th Century ; Humans ; Hypophosphatemia, Familial/genetics/*history ; }, }
@article {pmid2062434, year = {1991}, author = {Suvorov, NF and Andreeva, VN}, title = {Problems of the inheritance of conditioned reflexes in Pavlov's school.}, journal = {Neuroscience and behavioral physiology}, volume = {21}, number = {1}, pages = {8-16}, pmid = {2062434}, issn = {0097-0549}, mesh = {Animals ; Conditioning, Classical/*physiology ; Dogs ; Genetics, Behavioral/*history ; History, 20th Century ; USSR ; }, }
@article {pmid1912244, year = {1991}, author = {Georgiev, GP}, title = {Recognition of classical genetics by the Kremlin.}, journal = {Biomedical science}, volume = {2}, number = {1}, pages = {108}, pmid = {1912244}, issn = {0955-9701}, mesh = {Awards and Prizes ; Genetics/*history ; History, 20th Century ; USSR ; }, }
@article {pmid1831662, year = {1991}, author = {Penrose, LS}, title = {Survey of cases of familial mental illness. L. S. Penrose, July 1945.}, journal = {European archives of psychiatry and clinical neuroscience}, volume = {240}, number = {6}, pages = {315-24; discussion 314-5}, doi = {10.1007/BF02279760}, pmid = {1831662}, issn = {0940-1334}, mesh = {History, 20th Century ; Humans ; Mental Disorders/genetics/*history ; Neurocognitive Disorders/genetics/*history ; Ontario ; Psychotic Disorders/genetics/history ; Risk Factors ; Schizophrenia/genetics/history ; }, abstract = {An investigation was made of all known cases of mental illness where more than one member of the family entered one of the Ontario Mental Hospitals. The materials is fairly complete for a period of 18 years. Analysis of the resulting data, on pairs of relatives, gave rise to the following conclusions of particular interest. (i) Schizophrenia, affective psychosis, senile psychosis, Huntington's chorea and mental defect are shown to be conditions which remain significantly true to type when mental disease occurs in different members of a family. As a rider to this, however, it is found that schizophrenia and affective psychosis are not very distinct entities and groups of closely related familial cases frequently include both diagnoses. (ii) Schizophrenia is a rare diagnosis in the fathers of patients and occurs in only 8.7% of fathers, as opposed to the 30.7% in the whole sample of relatives: it is not so rare in mothers (24.5%). (iii) The most frequent type of relationship in pairs of patients is sister and sister: next in frequency is the type brother and brother, then brother and sister. Mother and son, mother and daughter, father and daughter and then father and sone come next in order. Less frequent are uncle and nephew or uncle and niece and, again less frequent, aunt and nephew or niece; grandparents and grandchildren were rarely found. (iv) Fathers, diagnosed schizophrenic or first admitted below the age of 35, have more psychotic sons than psychotic daughters, but the reverse is true for mothers in the same categories. (v) Fathers diagnosed as having affective illness or first admitted at the age of 35 or over have more psychotic daughters than psychotic sons, but the reverse is true for mothers in the same categories. (vi) Male subjects with either schizophrenic or affective diagnosis and in early- or late-onset age groups, have more psychotic brothers than psychotic sisters. Similarly, female subjects have more psychotic sisters than psychotic brothers. (vii) Each main diagnosis group has its characteristic first admission age. (viii) The first admission age is earlier in males than in females for schizophrenics, and later in males than in females for affective disorders. (ix) Study of first admission ages in families indicates that parents and, particularly, grandparents are much older than children and, particularly, grandchildren at first admission. This effect is not attributed to progressive degeneration. (x) Male subjects show a significantly wider scatter of first admission ages than do female subjects.(ABSTRACT TRUNCATED AT 400 WORDS)}, }
@article {pmid2185862, year = {1990}, author = {Fisher, RA}, title = {On the dominance ratio. 1922.}, journal = {Bulletin of mathematical biology}, volume = {52}, number = {1-2}, pages = {297-318; discussion 201-7}, pmid = {2185862}, issn = {0092-8240}, mesh = {*Genes, Dominant ; History, 20th Century ; Mathematics ; *Models, Genetic ; Mutation ; Plants/genetics ; }, }
@article {pmid2185860, year = {1990}, author = {Wright, S}, title = {Evolution in Mendelian populations. 1931.}, journal = {Bulletin of mathematical biology}, volume = {52}, number = {1-2}, pages = {241-95; discussion 201-7}, pmid = {2185860}, issn = {0092-8240}, mesh = {*Biological Evolution ; Gene Frequency ; *Genetics, Population ; History, 20th Century ; Mathematics ; *Models, Genetic ; }, }
@article {pmid2185859, year = {1990}, author = {Haldane, JB}, title = {A mathematical theory of natural and artificial selection--I. 1924.}, journal = {Bulletin of mathematical biology}, volume = {52}, number = {1-2}, pages = {209-40; discussion 201-7}, pmid = {2185859}, issn = {0092-8240}, mesh = {Animals ; Female ; History, 20th Century ; Male ; Mathematics ; *Models, Genetic ; *Selection, Genetic ; }, }
@article {pmid2162605, year = {1990}, author = {Suvorov, NF and Andreeva, VN}, title = {[The problems of the inheritance of conditioned reflexes in the school of I. P. Pavlov].}, journal = {Zhurnal vysshei nervnoi deiatelnosti imeni I P Pavlova}, volume = {40}, number = {1}, pages = {3-14}, pmid = {2162605}, issn = {0044-4677}, mesh = {Animals ; Conditioning, Classical/*physiology ; Genetics/*history ; Higher Nervous Activity/genetics ; History, 20th Century ; Research/history ; USSR ; }, }
@article {pmid2699605, year = {1989}, author = {Crow, JF}, title = {The estimation of inbreeding from isonymy. 1980.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {935-48; discussion 949-54}, pmid = {2699605}, issn = {0018-7143}, support = {GM-22038/GM/NIGMS NIH HHS/United States ; }, mesh = {*Consanguinity ; Genetics, Population/*history ; History, 20th Century ; Humans ; }, }
@article {pmid2699604, year = {1989}, author = {Goodman, M}, title = {Evolution of the immunologic species specificity of human serum proteins. 1962.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {879-924; discussion 925-34}, pmid = {2699604}, issn = {0018-7143}, support = {MY-2476//PHS HHS/United States ; }, mesh = {Animals ; Biological Evolution ; Blood Proteins/*immunology ; History, 20th Century ; Humans ; Immunogenetics/*history ; Primates/*immunology ; Species Specificity ; }, }
@article {pmid2699603, year = {1989}, author = {Motulsky, AG}, title = {Metabolic polymorphisms and the role of infectious diseases in human evolution. 1960.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {835-69; discussion 870-7}, pmid = {2699603}, issn = {0018-7143}, mesh = {*Biological Evolution ; Communicable Diseases/*genetics ; History, 20th Century ; Humans ; *Polymorphism, Genetic ; }, }
@article {pmid2699602, year = {1989}, author = {Livingstone, FB}, title = {The wave of advance of an advantageous gene: the sickle cell gene in Liberia. 1960.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {825-31; discussion 831-4}, pmid = {2699602}, issn = {0018-7143}, mesh = {Anemia, Sickle Cell/*genetics ; Genetics, Population/*history ; History, 20th Century ; Humans ; Liberia ; Sickle Cell Trait/*genetics ; }, }
@article {pmid2699601, year = {1989}, author = {Neel, JV}, title = {The study of natural selection in primitive and civilized human populations. 1958.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {781-810; discussion 811-23}, pmid = {2699601}, issn = {0018-7143}, mesh = {Africa ; Australia ; Genetics, Population/*history ; History, 20th Century ; Humans ; Pakistan ; *Selection, Genetic ; United States ; }, }
@article {pmid2699600, year = {1989}, author = {Crow, JF}, title = {Some possibilities for measuring selection intensities in man. 1958.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {763-75; discussion 776-80}, pmid = {2699600}, issn = {0018-7143}, mesh = {Genetics, Population/*history ; History, 20th Century ; Humans ; *Selection, Genetic ; }, }
@article {pmid2699599, year = {1989}, author = {Roberts, DF}, title = {A demographic study of a Dinka village. 1956.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {731-57; discussion 758-61}, pmid = {2699599}, issn = {0018-7143}, mesh = {*Demography ; Female ; Genetics, Population/*history ; History, 20th Century ; Humans ; Male ; Sudan ; }, }
@article {pmid2699598, year = {1989}, author = {Spuhler, JN and Kluckhohn, C}, title = {Inbreeding coefficients of the Ramah Navaho population. 1953.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {703-25; discussion 726-30}, pmid = {2699598}, issn = {0018-7143}, mesh = {*Consanguinity ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Indians, North American/*genetics ; }, }
@article {pmid2699597, year = {1989}, author = {Haldane, JB}, title = {The blood-group frequencies of European peoples, and racial origins. 1940.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {667-90; discussion 691-702}, pmid = {2699597}, issn = {0018-7143}, mesh = {Blood Group Antigens/*genetics ; Europe ; Gene Frequency ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Racial Groups/genetics ; }, }
@article {pmid2699596, year = {1989}, author = {Wilson, PT}, title = {A study of twins with special reference to heredity as a factor determining differences in environment. 1934.}, journal = {Human biology}, volume = {61}, number = {5-6}, pages = {629-59; discussion 660-5}, pmid = {2699596}, issn = {0018-7143}, mesh = {Genetics, Behavioral/history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; *Twins ; }, }
@article {pmid11621982, year = {1989}, author = {Olby, R}, title = {The dimensions of scientific controversy: the biometric--Mendelian debate.}, journal = {British journal for the history of science}, volume = {22}, number = {74 Pt 3}, pages = {299-320}, doi = {10.1017/s0007087400026170}, pmid = {11621982}, issn = {0007-0874}, mesh = {Genetics/*history ; History, Modern 1601- ; }, }
@article {pmid2683776, year = {1989}, author = {Pyeritz, RE}, title = {Pleiotropy revisited: molecular explanations of a classic concept.}, journal = {American journal of medical genetics}, volume = {34}, number = {1}, pages = {124-134}, doi = {10.1002/ajmg.1320340120}, pmid = {2683776}, issn = {0148-7299}, support = {HL35877/HL/NHLBI NIH HHS/United States ; RR00722/RR/NCRR NIH HHS/United States ; }, mesh = {Animals ; Connective Tissue Diseases/genetics ; History, 20th Century ; Humans ; Marfan Syndrome/genetics/history ; *Mutation ; Pedigree ; *Phenotype ; Rats ; }, abstract = {As commonly used, pleiotropy refers to multiple effects on phenotype of a single mutant gene. The importance of this concept to medical genetics has waxed and waned since its formulation soon after the rediscovery of Mendel's laws. Initially, the view that all aspects of a phenotype, and hence all manifestations of a mendelian syndrome, derive from a single function (or dysfunction) of a mutant allele gained ascendancy. Support for the importance of pleiotropy gradually diminished, and reached a low point in the 1940s with the one gene-one enzyme hypothesis. Studies of mammals and humans with heritable disorders of connective tissue sustained the notion that "genuine" pleiotropy probably did not exist. However, the demise of the relevance of pleiotropy was premature. Detailed understanding of gene organization, expression, and mutation indicates several mechanisms, such as multifunctional proteins, alternative splicing of messenger RNA, and overlapping coding sequences, through which genuine pleiotropy likely occurs in normal development and function, in mendelian syndromes, and in conditions due to somatic mutation. Furthermore, a broad definition of pleiotropy is warranted to subsume syndromes caused by abnormal function of contiguous genes, such as through large deletions, mutation of regulatory elements that coordinate expression, or less clearly understood "position effects." Thus, the use of pleiotropy in the context of aneuploidy syndromes is not inappropriate.}, }
@article {pmid2670664, year = {1989}, author = {Nagylaki, T}, title = {Gustave Malécot and the transition from classical to modern population genetics.}, journal = {Genetics}, volume = {122}, number = {2}, pages = {253-268}, doi = {10.1093/genetics/122.2.253}, pmid = {2670664}, issn = {0016-6731}, mesh = {France ; *Genetics, Population ; History, 20th Century ; Inbreeding ; }, abstract = {The contributions of Gustave Malécot to theoretical population genetics are described, discussed, and put into perspective relative to earlier and later work. In this context, certain aspects of the theory of inbreeding, the correlation between relatives, the evolution of finite panmictic populations, and (in more depth) spatial variation are reviewed. A brief biographical sketch of Malécot is also presented.}, }
@article {pmid2654450, year = {1989}, author = {Kantha, SS}, title = {A review of Nobel prizes in medicine or physiology, 1901-87.}, journal = {The Keio journal of medicine}, volume = {38}, number = {1}, pages = {1-12}, doi = {10.2302/kjm.38.1}, pmid = {2654450}, issn = {0022-9717}, mesh = {History, 20th Century ; *Nobel Prize ; Research/history ; }, abstract = {This review examines the awards of Nobel Prizes for Medicine or Physiology discipline between 1901 and 1987, in order to evaluate the advances made in biomedical sciences in the twentieth century. A total of 78 awards had been made amounting to 144 laureates. Countrywise, scientists from the USA lead the tally of Nobelists with 62 laureates, followed by those from Britain and Germany. In the first quarter (1901-25), majority of the awards were given to pioneering studies in microbiology and physiology. Following three decades (1926-55) show the emergence of biochemists as preferred winners with many of the nutrition-related discoveries receiving the recognition. During and immediately after the Second World War (between 1939 and 1957), pharmacology related studies were also awarded Nobel merit. Molecular biology, genetics and immunology had become the prime areas for recipients during the last three decades beginning with 1958. Apart from these four distinct speciality areas, classic discoveries in the fields of neurosciences and behavior, clinical medicine, experimental biology endocrinology had also been recognized at regular intervals.}, }
@article {pmid2698847, year = {1989}, author = {Allen, GE}, title = {Eugenics and American social history, 1880-1950.}, journal = {Genome}, volume = {31}, number = {2}, pages = {885-889}, doi = {10.1139/g89-156}, pmid = {2698847}, issn = {0831-2796}, mesh = {Attitude to Health ; Eugenics/*history ; Europe ; History, 19th Century ; History, 20th Century ; Humans ; Internationality ; Political Systems/history ; Social Problems/*history ; Social Values ; Socioeconomic Factors ; United States ; }, abstract = {Eugenics, the attempt to improve the human species socially through better breeding was a widespread and popular movement in the United States and Europe between 1910 and 1940. Eugenics was an attempt to use science (the newly discovered Mendelian laws of heredity) to solve social problems (crime, alcoholism, prostitution, rebelliousness), using trained experts. Eugenics gained much support from progressive reform thinkers, who sought to plan social development using expert knowledge in both the social and natural sciences. In eugenics, progressive reformers saw the opportunity to attack social problems efficiently by treating the cause (bad heredity) rather than the effect. Much of the impetus for social and economic reform came from class conflict in the period 1880-1930, resulting from industrialization, unemployment, working conditions, periodic depressions, and unionization. In response, the industrialist class adopted firmer measures of economic control (abandonment of laissez-faire principles), the principles of government regulation (interstate commerce, labor), and the cult of industrial efficiency. Eugenics was only one aspect of progressive reform, but as a scientific claim to explain the cause of social problems, it was a particularly powerful weapon in the arsenal of class conflict at the time.}, }
@article {pmid2673393, year = {1989}, author = {Kleinschmidt, AK and Lang, D and Jacherts, D and Zahn, RK}, title = {[Preparation and length measurements of the total deoxyribonucleic acid content of T2 bacteriophages. 1962].}, journal = {Biochimica et biophysica acta}, volume = {1000}, number = {}, pages = {41-48}, pmid = {2673393}, issn = {0006-3002}, mesh = {DNA, Viral/*history/ultrastructure ; History, 20th Century ; T-Phages/genetics/*ultrastructure ; }, }
@article {pmid2670565, year = {1989}, author = {Preston, RJ}, title = {A short journey from classical to molecular cytogenetics.}, journal = {Environmental and molecular mutagenesis}, volume = {14}, number = {2}, pages = {126-132}, doi = {10.1002/em.2850140209}, pmid = {2670565}, issn = {0893-6692}, mesh = {Animals ; Chromosome Banding/history ; Chromosome Mapping/history ; Genetics/*history ; History, 20th Century ; Humans ; Mutagenicity Tests/history ; }, }
@article {pmid3306547, year = {1987}, author = {Albert, DM}, title = {Historic review of retinoblastoma.}, journal = {Ophthalmology}, volume = {94}, number = {6}, pages = {654-662}, doi = {10.1016/s0161-6420(87)33407-4}, pmid = {3306547}, issn = {0161-6420}, mesh = {Eye Neoplasms/*diagnosis/history/pathology/therapy ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Retinoblastoma/*diagnosis/history/pathology/therapy ; }, abstract = {Retinoblastoma was first described as a specific entity by James Wardrop in 1809, with enucleation as his suggested treatment. Histologic studies including those of Flexner and Verhoeff and subsequent electron microscopy have given insights into its pathogenesis. The establishment of cell lines of retinoblastoma, the "nude" mouse model, and other animal models have contributed additional information. Classic genetic and epidemiologic studies have led to a broad and intense interest in the tumor despite its relative infrequency. Attempts now in progress to identify and characterize the oncogene for retinoblastoma may prove to be the most exciting part of the history of retinoblastoma.}, }
@article {pmid3302014, year = {1987}, author = {Monaghan, FV and Corcos, AF}, title = {Tschermak: a non-discoverer of mendelism. II. A critique.}, journal = {The Journal of heredity}, volume = {78}, number = {3}, pages = {208-210}, doi = {10.1093/oxfordjournals.jhered.a110361}, pmid = {3302014}, issn = {0022-1503}, mesh = {Crosses, Genetic ; Fabaceae/genetics ; Genes, Dominant ; Genes, Recessive ; Genetics/*history ; Genotype ; Germany ; History, 19th Century ; History, 20th Century ; Phenotype ; Plants, Medicinal ; }, abstract = {An examination of Tschermak's two papers of 1900 not only reinforces our conclusion cited in our first paper on Tschermak that he was not a rediscoverer of Mendelism, but also he did not understand Mendel when he had read it. His concept of dominance differed from that of Mendel, and his use of his own concept is inconsistent and contradictory. His discussion of his backcross data indicated that he had no idea of the nature of Mendelian ratios. Nowhere did he develop the ideas of segregation and independent assortment.}, }
@article {pmid3295605, year = {1987}, author = {}, title = {Nutrition classics. Archives of Internal Medicine, Volume 64, October 1939: Angina pectoris in hereditary xanthomatosis. By Carl Müller.}, journal = {Nutrition reviews}, volume = {45}, number = {4}, pages = {113-115}, doi = {10.1111/j.1753-4887.1987.tb02723.x}, pmid = {3295605}, issn = {0029-6643}, mesh = {Angina Pectoris/etiology/*history ; Female ; History, 20th Century ; Humans ; Hyperlipoproteinemia Type II/complications ; Male ; Xanthomatosis/complications/genetics/*history ; }, }
@article {pmid3035690, year = {1987}, author = {Bussey, HJ}, title = {Historical developments in familial polyposis coli.}, journal = {Seminars in surgical oncology}, volume = {3}, number = {2}, pages = {67-70}, doi = {10.1002/ssu.2980030204}, pmid = {3035690}, issn = {8756-0437}, mesh = {Adenomatous Polyposis Coli/genetics/*history/pathology ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {The emergence of familial polyposis coli from the general group of conditions with multiple polyps of the large intestine into a well-defined separate entity started when histopathology became a science. The recognition of its two main features--inheritance as a Mendelian dominant characteristic and its high incidence of associated colorectal cancer--greatly helped in establishing a policy of treatment designed to prevent cancer. The removal of all or most of the large intestine before cancer had supervened has had considerable success in reducing the cancer incidence. However, the more recent awareness that the adenomas can frequently be found also in the upper gastrointestinal tract has introduced new problems, the solution of which is currently a matter of investigation.}, }
@article {pmid3322165, year = {1986}, author = {Bell, J and Haldane, JB}, title = {The linkage between the genes for colour-blindness and haemophilia in man. By Julia Bell and J.B.S. Haldane, 1937.}, journal = {Annals of human genetics}, volume = {50}, number = {1}, pages = {3-34}, doi = {10.1111/j.1469-1809.1986.tb01935.x}, pmid = {3322165}, issn = {0003-4800}, mesh = {Color Vision Defects/genetics/*history ; Female ; *Genes ; *Genetic Linkage ; Hemophilia A/genetics/*history ; History, 20th Century ; Humans ; Male ; }, }
@article {pmid3931868, year = {1985}, author = {}, title = {Classics in oncology. Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913. By Aldred Scott Warthin. 1913.}, journal = {CA: a cancer journal for clinicians}, volume = {35}, number = {6}, pages = {348-359}, doi = {10.3322/canjclin.35.6.348}, pmid = {3931868}, issn = {0007-9235}, mesh = {Female ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Neoplasms/genetics/*history ; }, }
@article {pmid3901055, year = {1985}, author = {Szewczyk, H}, title = {[Phenomenology in the life work of Karl Leonhard as the climax of a classical view and a starting point of dialectic thought in psychiatry].}, journal = {Psychiatrie, Neurologie, und medizinische Psychologie}, volume = {37}, number = {7}, pages = {373-384}, pmid = {3901055}, issn = {0033-2739}, mesh = {Animals ; Germany ; History, 19th Century ; History, 20th Century ; *Philosophy ; Psychiatry/*history ; }, abstract = {The development of Karl Leonhards opinions, and particularly his schizophrenia theory, in the psychiatry of his time is presented in the form of a historical outline. Since the psychosis cannot be regarded as a self-contained phenomena even today, it is necessary to seek correlations, and, finally, causal relationships, with the results yielded by other science. This is shown by means of relationships established to results obtained in psychology, the physiopathology of the brain, genetics, sociology and in research into prognostication and the way in which people come to terms with their illnesses. The conclusion is drawn that Leonhards phenomenology represents an optimum starting point for psychiatry in future.}, }
@article {pmid3889132, year = {1985}, author = {Corcos, A and Monaghan, F}, title = {Role of de Vries in the recovery of Mendel's work. I. Was de Vries really an independent discoverer of Mendel?.}, journal = {The Journal of heredity}, volume = {76}, number = {3}, pages = {187-190}, doi = {10.1093/oxfordjournals.jhered.a110062}, pmid = {3889132}, issn = {0022-1503}, mesh = {Botany/history ; *Famous Persons ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {Recently, doubt has been cast on the view that de Vries developed the idea of disjunction independently of Mendel. Arguments are based on de Vries' own writings that showed the F2 data of his numerous crosses are reported as 3:1 ratios only after 1900. They also show that his theory of inheritance becomes quasi Mendelian only after 1900. The authors of this review paper cannot but agree with de Vries' critics that he did not develop his law of disjunction independently of Mendel. They also raise some questions that, hopefully, will lead to a reanalysis of de Vries' theory of inheritance in 1900.}, }
@article {pmid2581282, year = {1985}, author = {Ford, CV and Folks, DG}, title = {Conversion disorders: an overview.}, journal = {Psychosomatics}, volume = {26}, number = {5}, pages = {371-4, 380-3}, doi = {10.1016/S0033-3182(85)72845-9}, pmid = {2581282}, issn = {0033-3182}, mesh = {Adolescent ; Adult ; Aged ; Cerebral Cortex/physiopathology ; Child ; Communication ; Conditioning, Classical ; Conflict, Psychological ; Conversion Disorder/*diagnosis/etiology/therapy ; Female ; Functional Laterality ; Humans ; Male ; Middle Aged ; Neurocognitive Disorders/complications ; Prognosis ; Psychological Theory ; Sick Role ; Somatoform Disorders/diagnosis/genetics ; Stress, Psychological/complications ; Suggestion ; Symbolism ; }, }
@article {pmid3909193, year = {1985}, author = {Gaissinovitch, AE}, title = {Contradictory appraisal by K.A. Timiriazev of Mendelian principles and its subsequent perception.}, journal = {History and philosophy of the life sciences}, volume = {7}, number = {2}, pages = {257-286}, pmid = {3909193}, issn = {0391-9714}, mesh = {Genetics/*history ; History, 20th Century ; Mutation ; Russia (Pre-1917) ; }, }
@article {pmid3884699, year = {1985}, author = {Monaghan, FV and Corcos, AF}, title = {Mendel, the empiricist.}, journal = {The Journal of heredity}, volume = {76}, number = {1}, pages = {49-54}, doi = {10.1093/oxfordjournals.jhered.a110017}, pmid = {3884699}, issn = {0022-1503}, mesh = {Genetics/*history ; History, 19th Century ; }, abstract = {In contemporary texts in biology and genetics, Mendel is frequently portrayed as a theorist who was the father of classical genetics. According to some authors, he created his theory of inheritance to explain the results of his experimental hybridizations of peas. Others have proposed that he designed and carried out his experiments to demonstrate the correctness of a theory of inheritance he had already developed. We disagree strongly with these views of Mendel. Instead, we have come to regard him as an empirical investigator trying to discover the empirical natural laws describing the formation of hybrid peas and the development of their offspring over several generations. We have supported our view with an analysis of portions of Mendel's paper and his letters to Carl N ageli.}, }
@article {pmid6391646, year = {1984}, author = {Barbeau, A and Roy, M and Sadibelouiz, M and Wilensky, MA}, title = {Recessive ataxia in Acadians and "Cajuns".}, journal = {The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques}, volume = {11}, number = {4 Suppl}, pages = {526-533}, doi = {10.1017/s0317167100034995}, pmid = {6391646}, issn = {0317-1671}, mesh = {Canada ; Cerebellar Ataxia/history ; Female ; France/ethnology ; Friedreich Ataxia/diagnosis/*genetics ; Genes, Recessive ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Louisiana ; Male ; Pedigree ; }, abstract = {The physician exposed to a large number of patients with a recessive form of ataxia, will occasionally observe slower progression forms which lack many of the severe features or cardinal symptoms of Friedreich's disease. We have studied 31 such cases in Acadians of the Maritime Provinces of Canada, and in their separated "cousins" from Louisiana, now called "Cajuns". These patients are compared to a consecutive series of 22 Friedreich's disease cases in French Canada. It is shown that the age of onset is slightly later, but the progression much slower and the age at death older in the Acadian patients. These cases develop signs of pyramidal and posterior column involvement gradually and later than the classical Friedreich. As a result, pes cavus and scoliosis are less marked, as well as muscle weakness and cardiomyopathy. On the other hand, the rate of progression of areflexic ataxia, the "core disease", is identical in both groups. The main difference in progression rates of the disorders occurs after 10-12 years of evolution, thus after the period of hormono-ponderal growth. These differences, coupled to the diverging genetic and genealogical backgrounds, are sufficiently large for the presumption of distinct disorders. Whether they are due to allelic mutations, linked but different genes, genes affecting the same metabolic pathway, but elsewhere or to completely distinct entities, will have to be left to further studies, but their existence in completely different populations and milieux is worthy of report.}, }
@article {pmid6391645, year = {1984}, author = {Barbeau, A and Sadibelouiz, M and Roy, M and Lemieux, B and Bouchard, JP and Geoffroy, G}, title = {Origin of Friedreich's disease in Quebec.}, journal = {The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques}, volume = {11}, number = {4 Suppl}, pages = {506-509}, doi = {10.1017/s0317167100034971}, pmid = {6391645}, issn = {0317-1671}, mesh = {Female ; France/ethnology ; Friedreich Ataxia/*genetics/history ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Quebec ; }, abstract = {We have been able to trace 40 cases of classical Friedreich's disease from 14 previously unrelated French Canadian kindreds to one common ancestral couple arriving in New France in 1634: Jean Guyon and Mathurine Robin. One member of this couple presumably introduced one gene for Friedreich's disease into the French Canadian population. This gene has now been traced over 12 generations to both parents of the present cases. We plan to use this knowledge to study the spectrum of clinical manifestations of this gene and to carry out gene chromosomal localization studies, using the techniques of linkage and of molecular biology. Such studies in rare autosomal recessive disorders have previously been judged to be almost impossible.}, }
@article {pmid6505980, year = {1984}, author = {Tavaré, S}, title = {Line-of-descent and genealogical processes, and their applications in population genetics models.}, journal = {Theoretical population biology}, volume = {26}, number = {2}, pages = {119-164}, doi = {10.1016/0040-5809(84)90027-3}, pmid = {6505980}, issn = {0040-5809}, mesh = {Alleles ; *Genealogy and Heraldry ; Genetics, Population ; *Models, Genetic ; Mutation ; Pedigree ; Recurrence ; }, abstract = {A variety of results for genealogical and line-of-descent processes that arise in connection with the theory of some classical selectively neutral population genetics models are reviewed. While some new results and derivations are included, the principle aim is to demonstrate the central importance and simplicity of genealogical Markov chains in this theory. Considerable attention is given to "diffusion time scale" approximations of such genealogical processes. A wide variety of results pertinent to (diffusion approximations of) the classical multiallele single-locus Wright-Fisher model and its relatives are simplified and unified by this approach. Other examples where such genealogical processes play an explicit role, such as the infinite sites and infinite alleles models, are discussed.}, }
@article {pmid11649571, year = {1984}, author = {Feen, RH}, title = {The historical dimensions of infanticide and abortion: the experience of classical Greece.}, journal = {The Linacre quarterly}, volume = {51}, number = {3}, pages = {248-254}, pmid = {11649571}, issn = {0024-3639}, mesh = {*Abortion, Induced ; Beginning of Human Life ; Child, Unwanted ; Fathers ; Fetus ; Greece, Ancient ; *History ; *History, Ancient ; Humans ; Individuality ; *Infanticide ; Jurisprudence ; Life ; Parent-Child Relations ; Personhood ; Rome ; }, }
@article {pmid6368829, year = {1984}, author = {Dunstan, GR}, title = {The moral status of the human embryo: a tradition recalled.}, journal = {Journal of medical ethics}, volume = {10}, number = {1}, pages = {38-44}, doi = {10.1136/jme.10.1.38}, pmid = {6368829}, issn = {0306-6800}, mesh = {Abortion, Induced/*history ; Abortion, Legal/*history ; *Beginning of Human Life ; Catholicism/history ; *Ethics, Medical ; Female ; History, Ancient ; Human Characteristics ; Human Rights/*history ; Humans ; Judaism/history ; *Life ; *Personhood ; Pregnancy ; *Religion and Medicine ; Theology ; *Value of Life ; }, }
@article {pmid6368675, year = {1984}, author = {Monaghan, F and Corcos, A}, title = {On the origins of the Mendelian laws.}, journal = {The Journal of heredity}, volume = {75}, number = {1}, pages = {67-69}, doi = {10.1093/oxfordjournals.jhered.a109868}, pmid = {6368675}, issn = {0022-1503}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {The two laws usually attributed to Mendel were not considered as laws by him. The first law, the law of independent segregation occurs in Mendel's paper as an assumption or hypothesis. Hugo de Vries refers to this as a law discovered by Mendel. This appears to be the first use of an expression equivalent to Mendel's law. In his paper de Vries did not associate the observable characters with structures having a causitive role. That was done by Correns, who transformed the law of segregation of characters into a law of the segregation of anlagen. The second law, the law of independent assortment, is present in embryonic form in Mendel's paper. Here the independent assortment of characters appears as a secondary conclusion to a series of experiments involving several pairs of traits. Mendel repeats the primary conclusion later in the paper but not the secondary one. This leads us to believe that he considered the secondary conclusion as of lesser importance. We note in this context that the 9:3:3:1 ratio commonly associated with the idea of independent assortment, and attributed to Mendel, also does not occur in his paper. A careful reading of the papers of his discoverers shows it was Correns who first drew attention to this ratio. However, he did not formulate the second Mendelian law even though it was clearly implied. Neither was it stated by de Vries. Indeed, the first clear separation of the two laws and the naming of the second law was by T. H. Morgan some 13 years later.}, }
@article {pmid6367927, year = {1983}, author = {Richerson, HB}, title = {Hypersensitivity pneumonitis--pathology and pathogenesis.}, journal = {Clinical reviews in allergy}, volume = {1}, number = {4}, pages = {469-486}, pmid = {6367927}, issn = {0731-8235}, mesh = {Alveolitis, Extrinsic Allergic/etiology/history/*pathology ; Animals ; Complement System Proteins/immunology ; Disease Models, Animal ; History, 20th Century ; Humans ; Hypersensitivity, Delayed ; Immune Tolerance ; Immunity, Cellular ; Immunization, Passive ; Lung/pathology ; Precipitins/immunology ; }, abstract = {Early reports of hypersensitivity pneumonitis postulated that the disease was infectious or resulted from the toxic properties of the inhaled organic dusts. The finding of precipitating antibodies to moldy hay in farmers afflicted with farmer's lung suggested a role for antibody in pathogenesis, and a type III (antigen-antibody complex-mediated or Arthus) hypersensitivity reaction based on the classification of allergic reactions by Gell and Coombs was postulated. Subsequent studies have indicated the importance of cell-mediated (delayed) hypersensitivity (type IV). It must be recognized that hypersensitivity mechanisms are quite complicated and that the classification of Gell and Coombs is an oversimplification; interreacting humoral and cellular responses are typical of most hypersensitivity reactions of whatever classic type as originally defined. The prime importance of T-cell- and macrophage-mediated inflammation in HP, however, is indicated by histopathology, animal models, and in vitro correlates in humans. Major difficulties in defining completely the exact effector mechanisms involved in the pathogenesis of HP include the absence of a reliable in vitro correlate of antigen-specific effector T cells (the so called TDH cell) and the overwhelming versatility of the macrophage. There is no direct evidence to support contributions by precipitins, complement, or genetic host factors in the pathogenesis of hypersensitivity pneumonitis, nor are there studies as yet of cellular cytotoxicity contributions. Cellular and antibody interactions may lead to immunosuppressive processes modulating inflammatory responses and preventing disease despite immunogenesis. Animal models are helpful in dissecting mechanisms and defining effector functions. The eventual goal in studies of pathogenesis is to provide better tools for definitive diagnosis and methods of disease prevention, modulation, and cure.}, }
@article {pmid6359882, year = {1983}, author = {Cotterman, CW}, title = {Relationship and probability in Mendelian populations.}, journal = {American journal of medical genetics}, volume = {16}, number = {3}, pages = {393-440}, doi = {10.1002/ajmg.1320160311}, pmid = {6359882}, issn = {0148-7299}, mesh = {Genetics, Medical/*history ; History, 20th Century ; Humans ; Models, Genetic ; Probability ; United States ; }, }
@article {pmid6416904, year = {1983}, author = {Van Loghem, JJ}, title = {Classic illustration (Sir Ronald Fisher).}, journal = {European journal of obstetrics, gynecology, and reproductive biology}, volume = {16}, number = {2}, pages = {147-148}, doi = {10.1016/0028-2243(83)90115-6}, pmid = {6416904}, issn = {0301-2115}, mesh = {England ; History, 20th Century ; Humans ; Medical Illustration/*history ; Rh-Hr Blood-Group System/*genetics ; }, }
@article {pmid6357993, year = {1983}, author = {Propping, P}, title = {Genetic disorders presenting as "schizophrenia". Karl Bonhoeffer's early view of the psychoses in the light of medical genetics.}, journal = {Human genetics}, volume = {65}, number = {1}, pages = {1-10}, pmid = {6357993}, issn = {0340-6717}, mesh = {Diagnosis, Differential ; Germany ; History, 20th Century ; Humans ; Intellectual Disability/genetics ; Neurocognitive Disorders/genetics ; Psychotic Disorders/genetics/*history ; Schizophrenia/*genetics/history ; }, abstract = {There is overwhelming empirical evidence for the influence of genetic factors in the etiology of schizophrenic psychoses. An appreciable and still increasing number of exogenous factors have been known for decades that are capable of inducing psychoses that present as "schizophrenia" or are more or less similar to it. In this article, genetic disorders--chromosomal abnormalities and Mendelian diseases--are summarized that may be associated with such psychoses. These disorders frequently but not necessarily exhibit additional physical symptoms. Although the majority of schizophrenic psychoses can so far not be explained by exogenous factors or well-defined genetic disorders, the proportion of these etiologies among all cases may be higher than presumed so far, because they evade detection. Data from the literature are discussed in the light of Karl Bonhoeffer's early concept of exogenous reaction types and modern medical genetics.}, }
@article {pmid7047359, year = {1982}, author = {Baker, PT}, title = {Human population biology: a viable transdisciplinary science.}, journal = {Human biology}, volume = {54}, number = {2}, pages = {203-220}, pmid = {7047359}, issn = {0018-7143}, mesh = {*Anthropology, Physical/history ; *Biology/history ; *Demography/history ; History, 20th Century ; Humans ; Research/history ; }, }
@article {pmid6178836, year = {1982}, author = {Smith, TF and Morowitz, HJ}, title = {Between history and physics.}, journal = {Journal of molecular evolution}, volume = {18}, number = {4}, pages = {265-282}, pmid = {6178836}, issn = {0022-2844}, mesh = {Animals ; Biochemistry/history ; *Biological Evolution ; Biology/*history ; DNA/genetics ; History, 19th Century ; History, 20th Century ; *Origin of Life ; RNA/genetics ; }, abstract = {Biology has traditionally occupied a middle ground between the determinism of classical physics and the uncertainties of history. These issues are analyzed with respect to statistical laws which are applied to the prebiotic domain and strategy laws which characterize evolutionary biology. The differences in approach between biology and physics are discussed in detail. The origin of life is discussed in the context of physical chemical laws. A scenario for biogenesis is presented in terms of known molecular hardware. Evolutionary biology is then examined with respect to the kinds of laws that are possible in a domain where thermal fluctuations (mutations) have macroscopic effects. Game theory is employed to demonstrate the kinds of theory appropriate to this historical domain. The transition point between physics and history is the origin and development of the code. This is discussed and it is concluded that we are not yet able to assign the code to either the deterministic domain or to the arena of history.}, }
@article {pmid11610944, year = {1981}, author = {Scott-Moncrieff, R}, title = {The classical period in chemical genetics; recollections of Muriel Wheldale Onslow, Robert and Gertrude Robinson and J. B. S. Haldane.}, journal = {Notes and records of the Royal Society of London}, volume = {36}, number = {1}, pages = {125-154}, doi = {10.1098/rsnr.1981.0008}, pmid = {11610944}, issn = {0035-9149}, mesh = {Biochemistry/*history ; Chemistry/*history ; Genetics/*history ; History, Modern 1601- ; United Kingdom ; }, }
@article {pmid7001287, year = {1980}, author = {}, title = {Nutrition classics: American Journal of Physiology. Volume 183, 1955. Effect of food restriction on body composition of hereditary obese mice. Lillian G. Alonso and Thomas H. Maren.}, journal = {Nutrition reviews}, volume = {38}, number = {9}, pages = {317-320}, doi = {10.1111/j.1753-4887.1980.tb05972.x}, pmid = {7001287}, issn = {0029-6643}, mesh = {Animals ; *Body Composition ; Connecticut ; Food Deprivation ; History, 20th Century ; Mice ; Mice, Obese/genetics/*metabolism ; }, }
@article {pmid6997204, year = {1980}, author = {Drews, J}, title = {[Inhibitors of folic acid metabolism (author's transl)].}, journal = {Infection}, volume = {8 Suppl 3}, number = {}, pages = {S 268-75}, pmid = {6997204}, issn = {0300-8126}, mesh = {Folic Acid/*metabolism ; *Folic Acid Antagonists/history ; Germany ; History, 20th Century ; Humans ; Sulfanilamides/pharmacology ; }, abstract = {In contrast to antibiotic research, the study of folic acid metabolism and folic acid antagonists is conducted in the classical tradition of chemotherapy established by Paul Ehrlich. The elucidation of the mechanism of action of sulphonamides created an important prerequisite for the understanding of the biosynthesis of folic acid. The synthesis of inhibitors of dihydrofolate-reductase was guided on the one hand by the structure of dihydrofolate itself, and on the other hand by the fact that this substnce is essential for the growth of certain bacteria. Both approaches led to the synthesis of compounds which were effective and could be used therapeutically. The mechanism of selectivity of folic acid antagonists is described. A short account of the biochemical and genetic basis of resistance to folic acid antagonists is also given. The study of folic acid metabolism and folic acid antagonists provides a good example of the successful interaction of mechanistically inspired biochemical and chemical methods on the one hand, and an empirical approach characterised by the study of more complex biological phenomena on the other hand.}, }
@article {pmid570956, year = {1979}, author = {Vogel, F and Schalt, E and Krüger, J and Propping, P and Lehnert, KF}, title = {The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parameters.}, journal = {Human genetics}, volume = {47}, number = {1}, pages = {1-45}, pmid = {570956}, issn = {0340-6717}, mesh = {Adult ; *Electroencephalography ; England ; Female ; Genetic Variation ; *Genetics, Behavioral/history ; Genetics, Medical ; Germany, West ; History, 19th Century ; History, 20th Century ; Humans ; Intelligence ; Male ; Mathematics ; Personality Assessment ; Pregnancy ; *Psychological Tests ; *Research Design ; Twins ; United States ; }, abstract = {In the first section of this paper, various research designs in human behavior genetics are compared. In this context, the commonly used concept of biometric genetics is critically evaluated from the point of view of science theory. It is contrasted with the Mendelian gene concept, which, in principle, leads to a much deeper theoretical understanding by offering clues for basic mechanisms. To explore this advantage fully, a research strategy is needed that first looks for genetic variability in a physiological parameter of possible importance for human behavior and then tries to explore the influence of this parameter on the function of the human brain and on behavior. If possible, this genetic parameter should be selected in a way that inferences as to the mechanism of its influence on behavior become feasible. Such genetic variability is provided by the hereditary variants of the normal EEG discovered by earlier work (cf. Vogel, 1970). In the following section, a research program on 298 adult healthy males, most of them soldiers, with various inherited EEG variants is described. Apart from controls with inconspicuous EEGs, this material comprises probands with the following EEG variants: low-voltage (N); low-voltage borderline (NG); monotonous alpha-waves (R); occipital fast alpha-variants (BO); fronto-precentral beta-groups (BG), and diffuse beta-waves (BD). In addition to an EEG examination, the probands were examined with various test methods measuring intelligence (IST; LPS; Raven); working speed and concentration (d-2; KLT); personal attitudes (MMPI; 16PF; RKS); and sensory and motor abilities (flicker fusion; tachistoscopy; reaction time to optic, acoustic and combined stimuli; two-hand dexterity; pursuit rotor; tapping). In a supplementary twin study on 52 male adult twin pairs (26 MZ, 26 DZ), heritabilities were determined for the test scores included in the main study. For most test scores, heritabilities are relatively low; the data are compared with those from the literature. We conclude that the test methods utilized in the main study (on EEG variants) are expected to demonstrate at the most a small to moderate correlation of the EEGs with psychological phenotypes as defined by test examinations, even if a major part of the genetic variability underlying these phenotypes would be due to differences in brain physiology that could be revealed by EEG variation.}, }
@article {pmid397657, year = {1979}, author = {Mishima, S and Masuda, K and Izawa, Y and Mochizuki, M and Namba, K}, title = {The eighth Frederick H. Verhoeff Lecture. presented by saiichi mishima, MD Behçet's disease in Japan: ophthalmologic aspects.}, journal = {Transactions of the American Ophthalmological Society}, volume = {77}, number = {}, pages = {225-279}, pmid = {397657}, issn = {0065-9533}, mesh = {Adolescent ; Adult ; Aged ; Behcet Syndrome/*diagnosis/epidemiology/history ; Child ; Child, Preschool ; Colchicine/therapeutic use ; Cyclophosphamide/therapeutic use ; Europe ; Eye/pathology ; Eye Diseases/complications ; Female ; Fluorescein Angiography ; History, 20th Century ; Humans ; Immunity ; Japan ; Male ; Middle Aged ; Uveitis/complications/*diagnosis/therapy ; }, abstract = {The problems of Behçet's disease in Japan have been reviewed with particular emphasis on the ophthalmologic aspects: the historical background for the Japanese works, diagnostic critieria, epidemiology, some statistics, ocular symptomatology, ocular histopathology, etiology, pathophysiology, and treatment. Behçet's disease is the most frequent entity in endogenous uveitis in Japan. Patients are found throughout the country, and the prevalence rate averages seven to eight per 100,000 population: the rate is higher in the northern than in the southern districts. The diagnosis is made on the basis of a combination of clinical symptoms that are divided into the major and minor criteria symptoms. The major criteria comprise the ocular involvement, aphthous ulcers of the oral mucous membrane, genital ulcers, and skin lesions. These symptoms recur often as attacks and the disease follows a chronic course. The ocular involvement is found in 83% to 95% in males and 67% to 73% in females; the male to female ratio in the number of patients is 1.78. Both into the anterior segment type and the fundus and panophthalmic types. The anterior segment type shows serous iridocyclitis with the classic type of hypopyon appearing in about 12% of the attacks. This type is found in about 20%, more often in females than in males, and the visual prognosis is more favorable than in the fundus and panophthalmic types. In the latter two types, attacks of retinal angitis resulting in intensive retinal edema, yellowish-white exudate, and hemorrhages recur particularly in the macular region, and the visual prognosis is poor. More than 50% of male patients lose visual acuity to less than 0.1 in five years, but this is the case in only 10% of female patients. Consequently, Behçet's disease is the cause of blindness in about 12% of acquired blindness in adults. The ocular histopathology during the attack is characterized by severe angitis with intensive infiltration of neutrophil leucocytes largely in the uveal tract and the retina; the latter is severely affected and loss of visual cells and other neural elements results. The etiology of this disease still remains unknown but genetic predisposition is suggested since this disease is strongly linked with HL-A-B5. Environmental factors are also considered. Various abnormalities are found in the blood chemistry, blood cells (particularly in neutrophil leucocytes), immunologic mechanism, fibrinolytic and blood clotting system, and hormonal system. Chemotractic factors are found in the aqueous humor. These changes are particulary enhanced just before and during the ocular attacks. Systemic corticosteroids are deleterious to the visual prognosis, but cyclophosphamide and colchicine appear to suppress attacks and help patients maintain the visual acuity. However, these drugs are toxic, particulary to the reproductive organs, and the patients must be informed of this side effect and be allowed to make a decision before they are used.}, }
@article {pmid345812, year = {1978}, author = {Longo, LD}, title = {Classic pages in obstetrics and gynecology. The chromosome number in man. Joe Hin Tjio and Albert Levan. Hereditas, vol. 42, pp. 1-6, 1956.}, journal = {American journal of obstetrics and gynecology}, volume = {130}, number = {6}, pages = {722}, pmid = {345812}, issn = {0002-9378}, mesh = {*Chromosomes, Human ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid342533, year = {1978}, author = {Horan, FT and Beighton, PH}, title = {"Osteopetrosis" in the Fairbank Collection.}, journal = {The Journal of bone and joint surgery. British volume}, volume = {60}, number = {1}, pages = {53-55}, doi = {10.1302/0301-620X.60B1.342533}, pmid = {342533}, issn = {0301-620X}, mesh = {Adolescent ; Adult ; Body Height ; Child ; Child, Preschool ; Facial Bones/diagnostic imaging ; Female ; Follow-Up Studies ; Genes, Dominant ; History of Medicine ; History, Ancient ; Humans ; Infant ; London ; Male ; *Museums ; Osteopetrosis/complications/diagnostic imaging/genetics/*history ; Radiography ; Skull/diagnostic imaging ; }, abstract = {The "osteopetrosis" section of the Fairbank Collection in the Radiology Museum of the Royal National Orthopaedic Hospital contains radiographs and case notes of twenty-two patients. This material has been reviewed in terms of modern concepts in an attempt to obtain a long-term follow-up and a firm diagnosis in each individual. Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia and craniosclerosis with osteopathia striata. As these conditions differ greatly in their clinical and genetic prognoses, diagnostic categorisation is of practical importance.}, }
@article {pmid340503, year = {1977}, author = {Bell, AE}, title = {Heritability in retrospect.}, journal = {The Journal of heredity}, volume = {68}, number = {5}, pages = {297-300}, doi = {10.1093/oxfordjournals.jhered.a108840}, pmid = {340503}, issn = {0022-1503}, mesh = {Animals ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; *Terminology as Topic ; }, abstract = {The origin of the word heritability remains unknown. Its usage has evolved through three stages, becoming more restrictive in its meaning along the way. In the initial stage, 1832 and possibly earlier, heritability was used to denote the hereditary transmission of characteristics or material things, simply having the capability (legally or biologically) of being inherited. The second stage, beginning around the turn of this century, followed Johannsen's classical definition of nongenetic or environmental fluctuations distinct from genotypic differences, and usage closely approximated "broad sense heritability" and Johannsen's Erblichkeit. Finally, in 1936, we come to the modern day usage of narrow sense heritability, the ratio of additive genetic variance to the total phenotypic variance within a population, and credit Dr. J.L. Lush with its origin.}, }
@article {pmid333914, year = {1977}, author = {Engel, E}, title = {One hundred years of cytogenetic studies in health and disease.}, journal = {American journal of mental deficiency}, volume = {82}, number = {2}, pages = {109-116}, pmid = {333914}, issn = {0002-9351}, mesh = {Amniocentesis ; Chromosome Aberrations/diagnosis/*genetics ; Chromosome Disorders ; Chromosome Mapping ; *Cytogenetics ; Female ; Genes ; Genetics, Medical ; History, 18th Century ; History, 20th Century ; Humans ; Karyotyping ; Leukemia/*genetics ; Male ; X Chromosome ; Y Chromosome ; }, abstract = {Cytologic observations have greatly contributed to our understanding of the modes of transmission, expression, and action of genetic determinants in tissues and organisms. While the elucidation of chromosome migration and distribution during gametogenesis (i.e., the segregation and independent assortment of chromosomes in the germ cells) provided a physical basis and a mechanism for the implementation of Mendelian principles, cytogenetics did not illuminate our practical knowledge of human biology until it was applied to eukaryotic somatic cells with ease, speed, and accuracy. As a result of these achievements of the late 1950s, the study of the chromosome complement is now routinely available. Karyotypic analysis established that genetic imbalances such as trisomies and deletions account for one-fifth or more of all spontaneous abortions and for one-fifth of all serious but viable birth defects, most of them with impaired mental development. Most chromosome errors are the result of a gametal or zygotic mishap and can be detected by fetal cell sampling through amniocentesis. In recent years more refined techniques (chromosome banding methods) have further increased the level of resolution at which anomalies can be detected. These techniques, along with the development of methods to hybridize somatic cells, have greatly assisted in the assignment of particular genes to particular chromosomes.}, }
@article {pmid11609929, year = {1976}, author = {Norton, B and Pearson, ES}, title = {A note on the background to, and refereeing of, R. A. Fisher's 1918 paper 'On the correlation between relatives on the supposition of Mendelian inheritance'.}, journal = {Notes and records of the Royal Society of London}, volume = {31}, number = {1}, pages = {151-162}, doi = {10.1098/rsnr.1976.0005}, pmid = {11609929}, issn = {0035-9149}, mesh = {*Demography ; Genetics/*history ; History, Modern 1601- ; Statistics as Topic/*history ; United Kingdom ; }, }
@article {pmid766603, year = {1976}, author = {Ratnoff, OD and Jones, PK}, title = {The detection of carriers of classic hemophilia. H. P. Smith Memorial Lecture.}, journal = {American journal of clinical pathology}, volume = {65}, number = {2}, pages = {129-135}, doi = {10.1093/ajcp/65.2.129}, pmid = {766603}, issn = {0002-9173}, mesh = {Antigens ; Factor VIII/metabolism ; Female ; Genetic Counseling ; Hemophilia A/diagnosis/*genetics/history/immunology ; History, 19th Century ; History, Ancient ; Humans ; Male ; Pregnancy ; Sex Chromosomes ; United States ; }, abstract = {The authors summarize their experience with detection of the carrier state in classic hemophilia. Their test depends upon the observation that the plasma of patients with classic hemophilia, deficient in functional antihemophilic factor, contains normal amounts of precipitating antigenic material. By inference, the plasma of carriers should be relatively deficient in functional antihemophilic factor, but should contain normal amounts of antihemophilic factor-like antigenic material. Data obtained from 81 obligate carriers suggest that at least 90% of these women can be identified as carriers in the laboratory by demonstrating that there is an excess of antihemophilic factor-like antigenic material in plasma relative to functional antihemophilic factor. Further, at least two-thirds of mothers of individuals with isolated cases of hemophilia are carriers, suggesting that mutation is a relatively rare cause of hemophilia. Only about one-third of daughters of carriers who had no sons can be identified as carriers, a result due to the systematic exclusion of those daughters who had already had a hemophilic son.}, }
@article {pmid977272, year = {1976}, author = {Isely, DC}, title = {The control and propagation of a genetic disease.}, journal = {ISA transactions}, volume = {15}, number = {2}, pages = {115-121}, pmid = {977272}, issn = {0019-0578}, mesh = {*Eugenics ; Gene Frequency ; Genes ; Genetic Diseases, Inborn/genetics/*prevention &amp; control ; Genotype ; Humans ; Models, Biological ; Mutation ; }, abstract = {Preventive health is an appealing method to better our quality of life. However, in the practice of preventive health, its probabilistic nature and the time lag for results lessen its appeal. The specter of genetic diseases also has a probabilistic nature but has a time lag that spans generations. Thus any preventive health effort for genetic diseases should be studied so the results can be predicted in advance. A number of mathematical genetic problems have been solved that include mutation and phenotype selection factors. This paper takes a large human population that has birth and death frequencies that vary with age and that operates under Mendelian genetics. Hypothetical mutation and backmutation rates are put into this population; this results in an adverse effect on the death rate for those individuals born with homogenously mutated genes. This is called a genetic defect. The mutated genes are carried in the gametes of individuals who are born with the genetic defect and those who are exposed to the mutation rates; their manifestation is an increased probability of producing method gametes for reproduction. The preventive health control effort is birth control after genetic counseling. Various combinations of birth control selection effectiveness are tried on the different genotypes. It is found that a high selection factor for homogenously mutated genotypes gives the best result for reducing excess deaths caused by the genetic defect, and that a selection factor for heterozygous genotypes is a counterproductive effort. This model, employing a set of difference equations, may be used to evaluate preventive health policies on the control of genetically linked diseases such as sickle cell anemia, which affect the death rate of afflicted individuals. Also, effects other than death rate may be incorporated to evaluate policies on genetic diseases such as retinal blastoma.}, }
@article {pmid770035, year = {1976}, author = {Morquio, L}, title = {The classics: On a form of familial osseous dystrophy. Bull. Soc. Pediat. 27:145, 1929.}, journal = {Clinical orthopaedics and related research}, volume = {}, number = {114}, pages = {10-11}, pmid = {770035}, issn = {0009-921X}, mesh = {Adolescent ; Child ; Female ; History, 20th Century ; Humans ; Male ; Osteochondrodysplasias/genetics/*history ; }, }
@article {pmid4599080, year = {1974}, author = {Watson, JD and Crick, FH}, title = {Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. J.D. Watson and F.H.C. Crick. Published in Nature, number 4356 April 25, 1953.}, journal = {Nature}, volume = {248}, number = {5451}, pages = {765}, doi = {10.1038/248765a0}, pmid = {4599080}, issn = {0028-0836}, mesh = {DNA/*history ; England ; History of Medicine ; History, 20th Century ; Molecular Biology/history ; Nucleic Acid Conformation ; }, }
@article {pmid11610095, year = {1974}, author = {Allen, GE}, title = {Opposition to the Mendelian-chromosome theory: the physiological and developmental genetics of Richard Goldschmidt.}, journal = {Journal of the history of biology}, volume = {7}, number = {1}, pages = {49-92}, doi = {10.1007/BF00179293}, pmid = {11610095}, issn = {0022-5010}, mesh = {Genetics/*history ; History, Modern 1601- ; United States ; }, }
@article {pmid11610094, year = {1974}, author = {Carlson, EA}, title = {The Drosophila group: the transition from the Mendelian unit to the individual gene.}, journal = {Journal of the history of biology}, volume = {7}, number = {1}, pages = {31-48}, doi = {10.1007/BF00179292}, pmid = {11610094}, issn = {0022-5010}, mesh = {Genetics/*history ; History, Modern 1601- ; United States ; }, }
@article {pmid11610093, year = {1974}, author = {De Marrais, R}, title = {The double-edged effect of Sir Francis Galton: a search for the motives in the biometrician-Mendelian debate.}, journal = {Journal of the history of biology}, volume = {7}, number = {1}, pages = {141-174}, doi = {10.1007/BF00179297}, pmid = {11610093}, issn = {0022-5010}, mesh = {*Demography ; Genetics/*history ; History, Modern 1601- ; Statistics as Topic/*history ; United Kingdom ; }, }
@article {pmid4596078, year = {1973}, author = {Polgar, S}, title = {Introductory statement: the objectives and history of birth planning.}, journal = {International journal of health services : planning, administration, evaluation}, volume = {3}, number = {4}, pages = {557-560}, pmid = {4596078}, issn = {0020-7314}, mesh = {Abortion, Induced ; Africa ; Asia ; Contraception ; Culture ; Developing Countries ; Ecology ; Ethics ; Eugenics ; Europe ; *Family Planning Services/history ; Female ; History, 16th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; North America ; Politics ; Population Growth ; Pregnancy ; Social Planning ; South America ; }, }
@article {pmid4938462, year = {1971}, author = {Froggatt, P and Nevin, NC}, title = {The 'law of ancestral heredity' and the Mendelian-ancestrian controversy in England, 1889-1906.}, journal = {Journal of medical genetics}, volume = {8}, number = {1}, pages = {1-36}, pmid = {4938462}, issn = {0022-2593}, mesh = {Animals ; Biometry ; Breeding ; England ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Hybridization, Genetic ; Mice ; Selection, Genetic ; Statistics as Topic ; }, }
@article {pmid4910796, year = {1969}, author = {Quarneti, G and Selmi, G}, title = {[Evolution of the knowledge of heredity in biology. I. Pre-mendelian period].}, journal = {Giornale di batteriologia, virologia, ed immunologia ed annali dell'Ospedale Maria Vittoria di Torino}, volume = {62}, number = {5}, pages = {577-584}, pmid = {4910796}, issn = {0017-0267}, mesh = {England ; France ; Genetics/*history ; History, 17th Century ; History, 18th Century ; History, 19th Century ; Italy ; Netherlands ; }, }
@article {pmid4890321, year = {1968}, author = {Komai, T}, title = {Pavlov and genetics.}, journal = {The Journal of heredity}, volume = {59}, number = {5}, pages = {311-312}, doi = {10.1093/oxfordjournals.jhered.a107728}, pmid = {4890321}, issn = {0022-1503}, mesh = {Conditioning, Classical/history ; Genetics/*history ; History of Medicine ; USSR ; }, }
@article {pmid4875295, year = {1968}, author = {}, title = {The classic: Marie, P., and Sainton P.: Sur la dysostose cleido-cranienne herediataire, Rev. neurol. 6:835, 1898. On hereditary cleido-cranial dysostosis.}, journal = {Clinical orthopaedics and related research}, volume = {58}, number = {}, pages = {5-7}, pmid = {4875295}, issn = {0009-921X}, mesh = {Cleidocranial Dysplasia/*genetics/history ; Female ; History, 19th Century ; Humans ; Male ; }, }
@article {pmid4875192, year = {1968}, author = {Posner, E and Skutil, J}, title = {The great neglect: the fate of Mendel's classic paper between 1865 and 1900.}, journal = {Medical history}, volume = {12}, number = {2}, pages = {122-136}, pmid = {4875192}, issn = {0025-7273}, mesh = {Europe ; *Famous Persons ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Manuscripts as Topic/*history ; United States ; }, }
@article {pmid4880130, year = {1968}, author = {Lints, FA and Delcour, J}, title = {Galton and the Mendelian ratios.}, journal = {Heredity}, volume = {23}, number = {1}, pages = {153-154}, doi = {10.1038/hdy.1968.18}, pmid = {4880130}, issn = {0018-067X}, mesh = {England ; Genetics/*history ; History, 19th Century ; }, }
@article {pmid5331252, year = {1965}, author = {Svob, T}, title = {[Mendel and Mendalism and his place in medicine. (100th anniversary of the mendelian law)].}, journal = {Medicinski arhiv}, volume = {19}, number = {6}, pages = {29-40}, pmid = {5331252}, mesh = {Genetics/*history ; History, 19th Century ; }, }
@article {pmid4878291, year = {1965}, author = {Hernández Corzo, A}, title = {[Centenary of the publication of the works of Gtegor Mendel on genetics. IV. From the Mendelian units to the new particles of inheritance].}, journal = {Gaceta medica de Mexico}, volume = {95}, number = {9}, pages = {807-814}, pmid = {4878291}, issn = {0016-3813}, mesh = {*Famous Persons ; Genes/*history ; Genetics/*history ; History of Medicine ; History, 19th Century ; History, 20th Century ; }, }
@article {pmid4868655, year = {1965}, author = {Klein, D}, title = {[Gregor Mendel, the classic Mendelism and its influence on human genetics].}, journal = {Archiv der Julius Klaus-Stiftung fur Vererbungsforschung, Sozialanthropologie und Rassenhygiene}, volume = {40}, number = {1-4}, pages = {9-18}, pmid = {4868655}, issn = {0003-8881}, mesh = {Austria ; Genetics, Medical/*history ; History, 19th Century ; }, }
@article {pmid14219419, year = {1964}, author = {HAMMOND, D and STURGEON, P and BERGREN, W and CAVILES, A}, title = {DEFINITION OF COOLEY'S TRAIT OR THALASSEMIA MINOR: CLASSICAL, CLINICAL AND ROUTINE LABORATORY HEMATOLOGY.}, journal = {Annals of the New York Academy of Sciences}, volume = {119}, number = {}, pages = {372-389}, doi = {10.1111/j.1749-6632.1965.tb54040.x}, pmid = {14219419}, issn = {0077-8923}, mesh = {*Genetics, Medical ; *Hematology ; *History ; Humans ; *Phenotype ; *Thalassemia ; *beta-Thalassemia ; }, }