@article {pmid31399826, year = {2019}, author = {Mariscal, C and Barahona, A and Aubert-Kato, N and Aydinoglu, AU and Bartlett, S and Cárdenas, ML and Chandru, K and Cleland, C and Cocanougher, BT and Comfort, N and Cornish-Bowden, A and Deacon, T and Froese, T and Giovannelli, D and Hernlund, J and Hut, P and Kimura, J and Maurel, MC and Merino, N and Moreno, A and Nakagawa, M and Peretó, J and Virgo, N and Witkowski, O and James Cleaves, H}, title = {Hidden Concepts in the History and Philosophy of Origins-of-Life Studies: a Workshop Report.}, journal = {Origins of life and evolution of the biosphere : the journal of the International Society for the Study of the Origin of Life}, volume = {49}, number = {3}, pages = {111-145}, pmid = {31399826}, issn = {1573-0875}, support = {ELSI Origins Network//John Templeton Foundation/ ; }, mesh = {Biology/*history ; Chemistry/*history ; *Historiography ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Informatics/*history ; Molecular Biology/history ; *Origin of Life ; Paleontology/*history ; Philosophy/*history ; }, abstract = {In this review, we describe some of the central philosophical issues facing origins-of-life research and provide a targeted history of the developments that have led to the multidisciplinary field of origins-of-life studies. We outline these issues and developments to guide researchers and students from all fields. With respect to philosophy, we provide brief summaries of debates with respect to (1) definitions (or theories) of life, what life is and how research should be conducted in the absence of an accepted theory of life, (2) the distinctions between synthetic, historical, and universal projects in origins-of-life studies, issues with strategies for inferring the origins of life, such as (3) the nature of the first living entities (the "bottom up" approach) and (4) how to infer the nature of the last universal common ancestor (the "top down" approach), and (5) the status of origins of life as a science. Each of these debates influences the others. Although there are clusters of researchers that agree on some answers to these issues, each of these debates is still open. With respect to history, we outline several independent paths that have led to some of the approaches now prevalent in origins-of-life studies. These include one path from early views of life through the scientific revolutions brought about by Linnaeus (von Linn.), Wöhler, Miller, and others. In this approach, new theories, tools, and evidence guide new thoughts about the nature of life and its origin. We also describe another family of paths motivated by a" circularity" approach to life, which is guided by such thinkers as Maturana & Varela, Gánti, Rosen, and others. These views echo ideas developed by Kant and Aristotle, though they do so using modern science in ways that produce exciting avenues of investigation. By exploring the history of these ideas, we can see how many of the issues that currently interest us have been guided by the contexts in which the ideas were developed. The disciplinary backgrounds of each of these scholars has influenced the questions they sought to answer, the experiments they envisioned, and the kinds of data they collected. We conclude by encouraging scientists and scholars in the humanities and social sciences to explore ways in which they can interact to provide a deeper understanding of the conceptual assumptions, structure, and history of origins-of-life research. This may be useful to help frame future research agendas and bring awareness to the multifaceted issues facing this challenging scientific question.}, }
@article {pmid29696587, year = {2019}, author = {Fu, L}, title = {Chia-Chen Tan and genetics in modern China.}, journal = {Protein & cell}, volume = {10}, number = {5}, pages = {313-314}, doi = {10.1007/s13238-018-0539-2}, pmid = {29696587}, issn = {1674-8018}, mesh = {China ; Genetics/*education/*history ; History, 20th Century ; }, }
@article {pmid31611500, year = {2019}, author = {Sakaki, Y}, title = {A Japanese history of the Human Genome Project.}, journal = {Proceedings of the Japan Academy. Series B, Physical and biological sciences}, volume = {95}, number = {8}, pages = {441-458}, pmid = {31611500}, issn = {1349-2896}, mesh = {History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Japan ; }, abstract = {The Human Genome Project (HGP) is one of the most important international achievements in life sciences, to which Japanese scientists made remarkable contributions. In the early 1980s, Akiyoshi Wada pioneered the first project for the automation of DNA sequencing technology. Ken-ichi Matsubara exhibited exceptional leadership to launch the comprehensive human genome program in Japan. Hideki Kambara made a major contribution by developing a key device for high-speed DNA sequencers, which enabled scientists to construct human genome draft sequences. The RIKEN team led by Yoshiyuki Sakaki (the author) played remarkable roles in the draft sequencing and completion of chromosomes 21, 18, and 11. Additionally, the Keio University team led by Nobuyoshi Shimizu made noteworthy contributions to the completion of chromosomes 22, 21, and 8. In April 2003, the Japanese team joined the international consortium in declaring the completion of the human genome sequence. Consistent with the HGP mandate, Japan has successfully developed a wide range of ambitious genomic sciences.}, }
@article {pmid30901553, year = {2019}, author = {Lupski, JR}, title = {A Human in Human Genetics.}, journal = {Cell}, volume = {177}, number = {1}, pages = {9-15}, doi = {10.1016/j.cell.2019.02.034}, pmid = {30901553}, issn = {1097-4172}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; }, }
@article {pmid31451807, year = {2019}, author = {}, title = {Five decades of eukaryotic transcription.}, journal = {Nature structural & molecular biology}, volume = {26}, number = {9}, pages = {757}, doi = {10.1038/s41594-019-0303-1}, pmid = {31451807}, issn = {1545-9985}, mesh = {DNA-Directed RNA Polymerases/*genetics/*metabolism ; Eukaryota/*genetics/*metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Transcription, Genetic ; }, }
@article {pmid31439942, year = {2019}, author = {Lis, JT}, title = {A 50 year history of technologies that drove discovery in eukaryotic transcription regulation.}, journal = {Nature structural & molecular biology}, volume = {26}, number = {9}, pages = {777-782}, doi = {10.1038/s41594-019-0288-9}, pmid = {31439942}, issn = {1545-9985}, support = {R01 GM025232/GM/NIGMS NIH HHS/United States ; }, mesh = {Biochemistry/*history/*methods ; Eukaryota/*enzymology/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/*methods ; *Transcription, Genetic ; }, abstract = {Transcription regulation is critical to organism development and homeostasis. Control of expression of the 20,000 genes in human cells requires many hundreds of proteins acting through sophisticated multistep mechanisms. In this Historical Perspective, I highlight the progress that has been made in elucidating eukaryotic transcriptional mechanisms through an array of disciplines and approaches, and how this concerted effort has been driven by the development of new technologies.}, }
@article {pmid31439941, year = {2019}, author = {Roeder, RG}, title = {50+ years of eukaryotic transcription: an expanding universe of factors and mechanisms.}, journal = {Nature structural & molecular biology}, volume = {26}, number = {9}, pages = {783-791}, pmid = {31439941}, issn = {1545-9985}, support = {R01 CA178765/CA/NCI NIH HHS/United States ; R01 CA234575/CA/NCI NIH HHS/United States ; R01 DK071900/DK/NIDDK NIH HHS/United States ; R01 CA202245/CA/NCI NIH HHS/United States ; R01 CA204639/CA/NCI NIH HHS/United States ; R01 CA129325/CA/NCI NIH HHS/United States ; R01 CA163086/CA/NCI NIH HHS/United States ; }, mesh = {Biochemistry/*history ; Eukaryota/*enzymology/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Transcription Factors/*isolation & purification/*metabolism ; *Transcription, Genetic ; }, abstract = {The landmark 1969 discovery of nuclear RNA polymerases I, II and III in diverse eukaryotes represented a major turning point in the field that, with subsequent elucidation of the distinct structures and functions of these enzymes, catalyzed an avalanche of further studies. In this Review, written from a personal and historical perspective, I highlight foundational biochemical studies that led to the discovery of an expanding universe of the components of the transcriptional and regulatory machineries, and a parallel complexity in gene-specific mechanisms that continue to be explored to the present day.}, }
@article {pmid31439940, year = {2019}, author = {Conaway, RC and Conaway, JW}, title = {The hunt for RNA polymerase II elongation factors: a historical perspective.}, journal = {Nature structural & molecular biology}, volume = {26}, number = {9}, pages = {771-776}, doi = {10.1038/s41594-019-0283-1}, pmid = {31439940}, issn = {1545-9985}, mesh = {Biochemistry/*history ; Eukaryota/*enzymology ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA Polymerase II/*metabolism ; *Transcription, Genetic ; Transcriptional Elongation Factors/*isolation & purification/*metabolism ; }, abstract = {The discovery of the three eukaryotic nuclear RNA polymerases paved the way for serious biochemical investigations of eukaryotic transcription and the identification of eukaryotic transcription factors. Here we describe this adventure from our vantage point, with a focus on the hunt for factors that regulate elongation by RNA polymerase II.}, }
@article {pmid31439939, year = {2019}, author = {Kadonaga, JT}, title = {The transformation of the DNA template in RNA polymerase II transcription: a historical perspective.}, journal = {Nature structural & molecular biology}, volume = {26}, number = {9}, pages = {766-770}, doi = {10.1038/s41594-019-0278-y}, pmid = {31439939}, issn = {1545-9985}, support = {R35 GM118060/GM/NIGMS NIH HHS/United States ; }, mesh = {Biochemistry/*history ; DNA/*metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA Polymerase II/*metabolism ; RNA, Messenger/*biosynthesis ; *Transcription, Genetic ; }, abstract = {The discovery of RNA polymerases I, II, and III opened up a new era in gene expression. Here I provide a personal retrospective account of the transformation of the DNA template, as it evolved from naked DNA to chromatin, in the biochemical analysis of transcription by RNA polymerase II. These studies have revealed new insights into the mechanisms by which transcription factors function with chromatin to regulate gene expression.}, }
@article {pmid31488591, year = {2019}, author = {Heitman, J}, title = {E Pluribus Unum: The Fungal Kingdom as a Rosetta Stone for Biology and Medicine.}, journal = {Genetics}, volume = {213}, number = {1}, pages = {1-7}, pmid = {31488591}, issn = {1943-2631}, support = {R01 AI039115/AI/NIAID NIH HHS/United States ; R01 AI050113/AI/NIAID NIH HHS/United States ; R37 AI039115/AI/NIAID NIH HHS/United States ; T32 AI052080/AI/NIAID NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Cryptococcus/*genetics/pathogenicity ; Genes, Mating Type, Fungal ; Genetics/*history ; *Genome, Fungal ; History, 20th Century ; History, 21st Century ; }, abstract = {THE Genetics Society of America's (GSA's) Edward Novitski Prize recognizes a single experimental accomplishment or a body of work in which an exceptional level of creativity, and intellectual ingenuity, has been used to design and execute scientific experiments to solve a difficult problem in genetics. The 2019 recipient is Joseph Heitman, who is recognized for his work on fungal pathogens of humans and for ingenious experiments using yeast to identify the molecular targets of widely used immunosuppressive drugs. The latter work, part of Heitman's postdoctoral research, proved to be a seminal contribution to the discovery of the conserved Target of Rapamycin (TOR) pathway. In his own research group, a recurring theme has been the linking of fundamental insights in fungal biology to medically important problems. His studies have included defining fungal mating-type loci, including their evolution and links to virulence, and illustrating convergent transitions from outcrossing to inbreeding in fungal pathogens of plants and animals. He has led efforts to establish new genetic and genomic methods for studying pathogenesis in Cryptococcus species. Heitman's group also discovered unisexual reproduction, a novel mode of fungal reproduction with implications for pathogen evolution and the origins of sexual reproduction.}, }
@article {pmid30657894, year = {2019}, author = {Kumar, TR}, title = {An interview with Dr Richard Behringer.}, journal = {Biology of reproduction}, volume = {100}, number = {1}, pages = {8-10}, doi = {10.1093/biolre/ioy189}, pmid = {30657894}, issn = {1529-7268}, mesh = {Animals ; Anti-Mullerian Hormone/analysis/genetics ; *Biology/history ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Laboratory Personnel/history ; Mice ; Receptors, Steroid/genetics ; Reproduction/genetics/physiology ; Texas ; }, }
@article {pmid31701880, year = {2019}, author = {Meunier, R}, title = {Project knowledge and its resituation in the design of research projects: Seymour Benzer's behavioral genetics, 1965-1974.}, journal = {Studies in history and philosophy of science}, volume = {77}, number = {}, pages = {39-53}, doi = {10.1016/j.shpsa.2018.04.001}, pmid = {31701880}, issn = {0039-3681}, support = {/ERC_/European Research Council/International ; }, mesh = {Animals ; Behavior, Animal ; Drosophila melanogaster/genetics ; Genetics, Behavioral/*history/methods ; History, 20th Century ; *Research Design ; }, abstract = {The article introduces a framework for analyzing the knowledge that researchers draw upon when designing a research project by distinguishing four types of "project knowledge": goal knowledge, which concerns possible outcomes, and three forms of implementation knowledge that concern the realization of the project: 1) methodological knowledge that specifies possible experimental and non-experimental strategies to achieve the chosen goal; 2) representational knowledge that suggests ways to represent data, hypotheses, or outcomes; and 3) organizational knowledge that helps to build or navigate the material and social structures that enable a project. In the design of research projects such knowledge will be transferred from other successful projects and these processes will be analyzed in terms of modes of resituating knowledge. The account is developed by analyzing a case from the history of biology. In a reciprocal manner, it enables a better understanding of the historical episode in question: around 1970, several researchers who had made successful careers in the emerging field of molecular biology, working with bacterial model systems, attempted to create a molecular biology of the physiological processes in multicellular organisms. One of them was Seymour Benzer, who designed a research project addressing the physiological processes underlying behavior in Drosophila.}, }
@article {pmid31281071, year = {2019}, author = {Lean, OM}, title = {Chemical arbitrariness and the causal role of molecular adapters.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {78}, number = {}, pages = {101180}, doi = {10.1016/j.shpsc.2019.101180}, pmid = {31281071}, issn = {1879-2499}, mesh = {DNA/*chemistry ; History, 20th Century ; Humans ; Molecular Biology/*history ; Proteins/*chemistry ; }, abstract = {Jacques Monod (1971) argued that certain molecular processes rely critically on the property of chemical arbitrariness, which he claimed allows those processes to "transcend the laws of chemistry". It seems natural, as some philosophers have done, to interpret this in modal terms: a biological relationship is chemically arbitrary if it is possible, within the constraints of chemical "law", for that relationship to have been otherwise than it is. But while modality is certainly important for understanding chemical arbitrariness, understanding its biological role also requires an account of the concrete causal-functional features that distinguish arbitrary from non-arbitrary phenomena. In this paper I elaborate on this under-emphasised aspect by offering a general account of these features: arbitrary relations are instantiated by mechanisms that involve molecular adapters, which causally couple two properties or processes which would otherwise be uncorrelated. Additionally, adapters work by acting as intermediate rather than cooperating causes.}, }
@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 {pmid30814278, year = {2019}, author = {Pipas, JM}, title = {DNA Tumor Viruses and Their Contributions to Molecular Biology.}, journal = {Journal of virology}, volume = {93}, number = {9}, pages = {}, doi = {10.1128/JVI.01524-18}, pmid = {30814278}, issn = {1098-5514}, mesh = {Animals ; Congresses as Topic ; DNA Tumor Viruses/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; Italy ; Molecular Biology/*history ; Neoplasms/*history/*virology ; }, abstract = {This summer marks the 51st anniversary of the DNA tumor virus meetings. Scientists from around the world will gather in Trieste, Italy, to report their latest results and to agree or disagree on the current concepts that define our understanding of this diverse class of viruses. This article offers a brief history of the impact the study of these viruses has had on molecular and cancer biology and discusses obstacles and opportunities for future progress.}, }
@article {pmid31144087, year = {2019}, author = {Sukumaran, S and Sebastian, W and Francis, KX and Gopalakrishnan, A}, title = {Contemporary and historic patterns of intraspecific diversity in Indian anchovy, Stolephorus indicus, from Indian peninsular waters.}, journal = {Genetica}, volume = {147}, number = {3-4}, pages = {259-267}, doi = {10.1007/s10709-019-00068-0}, pmid = {31144087}, issn = {1573-6857}, mesh = {Adenosine Triphosphatases/genetics ; Animals ; Bayes Theorem ; DNA, Mitochondrial ; Demography ; Fishes/classification/*genetics ; Gene Flow ; Genetic Variation ; Genetics, Population/history ; Haplotypes ; History, Ancient ; Indian Ocean ; Mitochondria/genetics ; Sequence Analysis, DNA ; }, abstract = {We analyzed intraspecific diversity of Indian anchovy, Stolephorus indicus, a commercially and ecologically important species, using mitochondrial DNA markers so as to derive insights into population structuring and historical demography. Analyses were carried out on 128 and 138 individuals collected from 5 locations along the range of distribution using mitochondrial ATPase (843 bp) and COI (663 bp) sequences respectively. Significant connectivity and gene flow was detected among fishes collected from all the geographic locations as indicated by lack of structuring in Bayesian clustering analysis along with insignificant ΦST values. Oceanographic features of the Bay of Bengal, Arabian Sea and Andaman Sea may be favorable for the dispersal of anchovy larvae and subsequent gene flow. Historical demographic analyses indicated a demographic and spatial expansion taken place approximately during 125,000 years before present, the Pleistocene epoch. Indian Ocean witnessed emergence of upwelling events and consequent increase in productivity during the Pleistocene epoch causing a demographic and spatial expansion of anchovies. Management measures for this species should be devised considering it as a single stock along its entire range of distribution.}, }
@article {pmid30296836, year = {2019}, author = {Womack, JEJ}, title = {Mapping Genes Is Good for You.}, journal = {Annual review of animal biosciences}, volume = {7}, number = {}, pages = {1-16}, doi = {10.1146/annurev-animal-020518-114902}, pmid = {30296836}, issn = {2165-8110}, mesh = {Animals ; Breeding/history ; Cattle/*genetics ; Chromosome Mapping/history/*veterinary ; Genome/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {I abandoned my original career choice of high school teaching to pursue dentistry and soon abandoned that path for genetics. The latter decision was due to a challenge by a professor that led to me reading Nobel speeches by pioneer geneticists before I had formal exposure to the subject. Even then, I was 15 years into my career before my interest in rodent genomes gave way to mapping cattle genes. Events behind these twists and turns in my career path comprise the first part of this review. The remainder is a review of the development of the field of bovine genomics from my personal perspective. I have had the pleasure of working with outstanding graduate students, postdocs, and colleagues to contribute my small part to a discipline that has evolved from a few individuals mapping an orphan genome to a discipline underlying a revolution in animal breeding.}, }
@article {pmid31405996, year = {2019}, author = {Weir, BS}, title = {The Summer Institute in Statistical Genetics.}, journal = {Genetics}, volume = {212}, number = {4}, pages = {955-957}, doi = {10.1534/genetics.119.302506}, pmid = {31405996}, issn = {1943-2631}, support = {R01 GM075091/GM/NIGMS NIH HHS/United States ; R25 GM059733/GM/NIGMS NIH HHS/United States ; }, mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Statistics as Topic/*history ; United States ; }, abstract = {The Elizabeth W. Jones Award for Excellence in Education recognizes an individual or group that has had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. Bruce Weir (University of Washington) is the 2019 recipient in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data. His contributions fall into three categories: the acclaimed Summer Institute in Statistical Genetics, which has been held continuously for 23 years and has trained > 10,000 researchers worldwide; the popular graduate-level textbook Genetic Data Analysis; and the training of a growing number of forensic geneticists during the rise of DNA evidence in courts around the world.}, }
@article {pmid31098759, year = {2019}, author = {McConwell, AK}, title = {Walking the Line: A Tempered View of Contingency and Convergence in Life's History : Review of Jonathan B. Losos: Improbable Destinies: Fate, Chance, and the Future of Evolution (2017).}, journal = {Acta biotheoretica}, volume = {67}, number = {3}, pages = {253-264}, doi = {10.1007/s10441-019-09347-x}, pmid = {31098759}, issn = {1572-8358}, mesh = {*Adaptation, Biological ; *Biological Evolution ; Genetics/*history ; History, 21st Century ; Humans ; *Models, Theoretical ; *Selection, Genetic ; United States ; }, }
@article {pmid30783691, year = {2019}, author = {Nemec, B and Zimmer, F}, title = {[The Emergence of Genetic Prenatal Diagnosis from Environmental Research : On a Methodological Shift in Prevention Around 1970].}, journal = {NTM}, volume = {27}, number = {1}, pages = {39-78}, doi = {10.1007/s00048-019-00207-w}, pmid = {30783691}, issn = {1420-9144}, mesh = {Environmental Exposure/adverse effects/history ; Environmental Science/*history ; Genetic Diseases, Inborn/genetics/*history/prevention & control ; Genetic Research/*history ; History, 20th Century ; Humans ; Mutagenesis ; Prenatal Diagnosis/*history ; }, abstract = {The history of genetic prenatal diagnosis has so far been analyzed as a part of the history of human genetics and its reorientation as a clinical and laboratory-based scientific discipline in the second half of the 20th century. Based on new source material, we show in this paper that the interest in prenatal diagnosis also arose within the context of research on mutagenicity (the capacity to induce mutations) that was concerned with environmental dangers to human health. Our analysis of the debates around the establishment of the German Research Foundation's (DFG) research program "Prenatal Diagnosis of Genetic Defects" reveals that amniocentesis was introduced in Western Germany by a group of scientists working on the dangers for the human organism caused by radiation, pharmaceuticals, and other substances and consumer goods. We argue that, in a period of growing environmental concern, the support of prenatal diagnosis aimed to close a perceived gap in the prevention of environmental mutagenicity, i. e. genetic anomalies induced by environmental factors. The expected financing of prenatal diagnosis by health insurance in the course of the reform of abortion rights was used as another argument for the new technology's introduction as a "defensive measure". Only in a second step did changes in research structures, but most importantly experience from gynecological practice lead to a reframing of the technology as a tool for the diagnosis and prevention of mostly genetic or spontaneously occurring anomalies. Eventually, prenatal diagnosis, as it became routinely used in Western Germany from the early 1980s onward, had little to do with "environmental" questions. This case study of the early history of genetic prenatal diagnosis analyzes the still poorly researched relationship between research in human genetics, environmental research and medical practice. Furthermore, we aim to shed new light on a shift in perspective in prevention around 1970 that has so far been described in different contexts.}, }
@article {pmid31080177, year = {2019}, author = {Cook-Deegan, R and McCormack, SJ}, title = {LeRoy Walters's Legacy of Bioethics in Genetics and Biotechnology Policy.}, journal = {Kennedy Institute of Ethics journal}, volume = {29}, number = {1}, pages = {51-66}, doi = {10.1353/ken.2019.0010}, pmid = {31080177}, issn = {1086-3249}, mesh = {Academies and Institutes/ethics ; Advisory Committees/ethics/history/legislation & jurisprudence ; *Bioethical Issues ; *Bioethics ; Biotechnology/*ethics/history/trends ; DNA, Recombinant/history ; Federal Government ; Genetic Therapy/ethics/history/legislation & jurisprudence ; Genetics/*ethics/legislation & jurisprudence ; Guidelines as Topic ; History, 20th Century ; History, 21st Century ; Human Genome Project/ethics/history/legislation & jurisprudence ; Humans ; Legislation as Topic ; Male ; Public Policy/history/legislation & jurisprudence ; United States ; }, abstract = {LeRoy Walters was at the center of public debate about emerging biological technologies, even as "biotechnology" began to take root. He chaired advisory panels on human gene therapy, the human genome project, and patenting DNA for the congressional Office of Technology Assessment. He chaired the subcommittee on Human Gene Therapy for NIH's Recombinant DNA Advisory Committee. He was also a regular advisor to Congress, the executive branch, and academics concerned about policy governing emerging biotechnologies. In large part due to Prof. Walters, the Kennedy Institute of Ethics was one of the primary sources of talent in bioethics, including staff who populated policy and science agencies dealing with reproductive and genetic technologies, such as NIH and OTA. His legacy lies not only in his writings, but in those people, documents, and discussions that guided biotechnology policy in the United States for three decades.}, }
@article {pmid31167898, year = {2019}, author = {Andrew, DJ and Chen, EH and Manoli, DS and Ryner, LC and Arbeitman, MN}, title = {Sex and the Single Fly: A Perspective on the Career of Bruce S. Baker.}, journal = {Genetics}, volume = {212}, number = {2}, pages = {365-376}, doi = {10.1534/genetics.119.301928}, pmid = {31167898}, issn = {1943-2631}, support = {R01 DE013899/DE/NIDCR NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Animals ; Dosage Compensation, Genetic ; Drosophila/*genetics ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mentors ; Sex Determination Processes/*genetics ; Sexual Behavior ; }, abstract = {Bruce Baker, a preeminent Drosophila geneticist who made fundamental contributions to our understanding of the molecular genetic basis of sex differences, passed away July 1, 2018 at the age of 72. Members of Bruce's laboratory remember him as an intensely dedicated, rigorous, creative, deep-thinking, and fearless scientist. His trainees also remember his strong commitment to teaching students at every level. Bruce's career studying sex differences had three major epochs, where the laboratory was focused on: (1) sex determination and dosage compensation, (2) the development of sex-specific structures, and (3) the molecular genetic basis for sex differences in behavior. Several members of the Baker laboratory have come together to honor Bruce by highlighting some of the laboratory's major scientific contributions in these areas.}, }
@article {pmid31167897, year = {2019}, author = {L Hartl, D}, title = {Q & A with Daniel L. Hartl, Recipient of the 2019 Thomas Hunt Morgan Medal.}, journal = {Genetics}, volume = {212}, number = {2}, pages = {361-363}, doi = {10.1534/genetics.119.302260}, pmid = {31167897}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Biometry ; Cytological Techniques/history ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mentors ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America's Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2019 Morgan Medal is Daniel Hartl of Harvard University, who is recognized for his influential and diverse contributions to genetics research. The unifying theme of Hartl's broad impacts on transmission, population, evolutionary, and medical genetics has been the combination of theoretical insights with cutting-edge experimental techniques. Some of his contributions include revealing the genetics of segregation distortion, developing statistical frameworks for estimating the effects of selection, application of these frameworks to natural and experimental populations, discovery of the mariner transposon and its influence on genome evolution, insights into the evolution of gene expression differences, and modeling the evolution of malaria parasite populations. Hartl is also known as a supportive mentor who has trained many prominent geneticists that continue to shape the field.}, }
@article {pmid31182939, year = {2019}, author = {Soriano, V}, title = {Jérôme Lejeune passed away 25 years ago.}, journal = {Hereditas}, volume = {156}, number = {}, pages = {18}, doi = {10.1186/s41065-019-0094-8}, pmid = {31182939}, issn = {1601-5223}, mesh = {Gene Editing ; Genetic Diseases, Inborn/*diagnosis/*genetics/history/therapy ; Genetic Testing/ethics/methods ; Genetic Therapy/ethics/methods ; History, 20th Century ; *Human Genetics/ethics/history ; Humans ; }, }
@article {pmid28497705, year = {2017}, author = {Santesmases, MJ}, title = {Circulating biomedical images: Bodies and chromosomes in the post-eugenic era.}, journal = {History of science; an annual review of literature, research and teaching}, volume = {55}, number = {4}, pages = {395-430}, doi = {10.1177/0073275317701145}, pmid = {28497705}, issn = {0073-2753}, mesh = {Chromosomes ; *Cytogenetics/history ; *Eugenics ; Female ; Genetics, Medical ; *Heredity ; History, 20th Century ; Humans ; Pregnancy ; Pregnant Women ; *Social Conditions ; }, abstract = {This essay presents the early days of human cytogenetics, from the late 1950s until the mid 1970s, as a historical series of images. I propose a chronology moving from photographs of bodies to chromosome sets, to be joined by ultrasound images, which provided a return to bodies, by then focused on the unborn. Images carried ontological significance and, as I will argue, are principal characters in the history of human cytogenetics. Inspired by the historiography of heredity and genetics, studies on visual cultures, the conceptualization of circulation, and the sociology of pregnancy, I suggest that cytogenetics, through its focus on pregnancy, pregnant women, and their offspring, found strategic living materials that stabilized human chromosome studies as a biomedical, post-eugenics practice. The historicity of each path displays a wide circulation of objects, tools, and methods that condensed on images that shared in the centuries-old visual expertise that medicine and botany had manufactured.}, }
@article {pmid31695220, year = {2019}, author = {}, title = {Nature at 150: evidence in pursuit of truth.}, journal = {Nature}, volume = {575}, number = {7781}, pages = {7-8}, doi = {10.1038/d41586-019-03304-x}, pmid = {31695220}, issn = {1476-4687}, mesh = {Animals ; Anniversaries and Special Events ; Astronomy/history ; Authorship ; DNA/chemistry/history ; *Ethics, Research/history ; Fossils ; Global Warming/legislation & jurisprudence/prevention & control/statistics & numerical data ; Group Processes ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Hominidae ; Human Genome Project/history ; Humans ; International Cooperation ; Ozone/analysis/history ; Paleontology/history ; Peer Review, Research ; Periodicals as Topic/*history/*standards/trends ; Physics/history ; Reproducibility of Results ; Research/education/*history/standards/*trends ; }, }
@article {pmid31501597, year = {2019}, author = {Nik-Zainal, S}, title = {A path inspired by people.}, journal = {Nature medicine}, volume = {25}, number = {9}, pages = {1329}, doi = {10.1038/s41591-019-0570-8}, pmid = {31501597}, issn = {1546-170X}, mesh = {Genetic Counseling/*history ; *Genetic Diseases, Inborn ; History, 21st Century ; Humans ; }, }
@article {pmid31402018, year = {2019}, author = {Lane, R}, title = {Teri Manolio: steering genomics into clinical medicine.}, journal = {Lancet (London, England)}, volume = {394}, number = {10197}, pages = {462}, doi = {10.1016/S0140-6736(19)31682-4}, pmid = {31402018}, issn = {1474-547X}, mesh = {Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*history ; National Human Genome Research Institute (U.S.) ; United States ; }, }
@article {pmid31238325, year = {2019}, author = {Haaf, T and Nanda, I}, title = {A Note from the New Editor.}, journal = {Cytogenetic and genome research}, volume = {158}, number = {2}, pages = {55}, doi = {10.1159/000501440}, pmid = {31238325}, issn = {1424-859X}, mesh = {Animals ; *Cytogenetics/history/standards/trends ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/standards/*trends ; }, }
@article {pmid31204695, year = {2019}, author = {Szabó, AT and Poczai, P}, title = {The emergence of genetics from Festetics' sheep through Mendel's peas to Bateson's chickens.}, journal = {Journal of genetics}, volume = {98}, number = {2}, pages = {}, pmid = {31204695}, issn = {0973-7731}, mesh = {Animals ; Breeding ; Chickens/*genetics ; Genetics/*history ; Genetics, Population ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Peas/*genetics ; Sheep/*genetics ; }, abstract = {It is now common knowledge-but also a misbelief-that in 1905 William Bateson coined the term 'genetics' for the first time in his letter to Adam Sedgwick. This important term was already formulated 81 years ago in a paper written by a sheepbreeding noble called Imre (Emmerich) Festetics, who still remains somewhat mysterious even today. The articles written by Festetics summarized the results of a series of lasting and elegant breeding experiments he had conducted on his own property. Selecting the best rams, Festetics had painstakingly crossed and backcrossed his best sheep to reach better wool quality. These experiments later turned out to reveal a better understanding of inheritance outlining genetics as a new branch of natural sciences.}, }
@article {pmid31180051, year = {2019}, author = {DI Felice, F and Micheli, G and Camilloni, G}, title = {Restriction enzymes and their use in molecular biology: An overview.}, journal = {Journal of biosciences}, volume = {44}, number = {2}, pages = {}, pmid = {31180051}, issn = {0973-7138}, mesh = {CRISPR-Cas Systems ; Chromatin/chemistry/metabolism ; Chromosome Mapping/*history/methods ; Cloning, Molecular/*methods ; DNA/chemistry/genetics/*history/metabolism ; DNA Methylation ; DNA Restriction Enzymes/genetics/*history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/methods ; Nobel Prize ; Nucleotide Mapping/*history/methods ; Transcription Activator-Like Effector Nucleases/genetics/history/metabolism ; }, abstract = {Restriction enzymes have been identified in the early 1950s of the past century and have quickly become key players in the molecular biology of DNA. Forty years ago, the scientists whose pioneering work had explored the activity and sequence specificity of these enzymes, contributing to the definition of their enormous potential as tools for DNA characterization, mapping and manipulation, were awarded the Nobel Prize. In this short review, we celebrate the history of these enzymes in the light of their many different uses, as these proteins have accompanied the history of DNA for over 50 years representing active witnesses of major steps in the field.}, }
@article {pmid31057159, year = {2019}, author = {O'Mahony, S}, title = {After the golden age: what is medicine for?.}, journal = {Lancet (London, England)}, volume = {393}, number = {10183}, pages = {1798-1799}, doi = {10.1016/S0140-6736(19)30901-8}, pmid = {31057159}, issn = {1474-547X}, mesh = {Epidemiology ; Evidence-Based Medicine ; Female ; *History of Medicine ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Longevity ; Medical Overuse/statistics & numerical data ; Medicine/*statistics & numerical data/trends ; Physicians/*history ; }, }
@article {pmid31053614, year = {2019}, author = {Borinskaya, SA and Ermolaev, AI and Kolchinsky, EI}, title = {Lysenkoism Against Genetics: The Meeting of the Lenin All-Union Academy of Agricultural Sciences of August 1948, Its Background, Causes, and Aftermath.}, journal = {Genetics}, volume = {212}, number = {1}, pages = {1-12}, doi = {10.1534/genetics.118.301413}, pmid = {31053614}, issn = {1943-2631}, mesh = {Animals ; *Biological Evolution ; Genetics/*history ; Heredity ; History, 20th Century ; Plants/genetics ; USSR ; }, abstract = {Progress in genetics and evolutionary biology in the young Union of Soviet Socialist Republics (USSR) was hindered in the 1930s by the agronomist Trofim Lysenko, who believed that acquired traits are inherited, claimed that heredity can be changed by "educating" plants, and denied the existence of genes. Lysenko was supported by Communist Party elites. Lysenko termed his set of ideas and agricultural techniques "Michurinism," after the name of the plant breeder Ivan Michurin, but they are currently known as Lysenkoism. Although Michurinism opposed biological science, Lysenko took up one academic position after another. In 1929, Nikolai Vavilov founded the Lenin All-Union Academy of Agricultural Sciences and became its head; it directed the development of sciences underpinning plant and animal breeding in the Soviet Union. Vavilov was dismissed in 1935 and later died in prison, while Lysenko occupied his position. The triumph of Lysenkoism became complete and genetics was fully defeated in August 1948 at a session of the academy headed by Lysenko. The session was personally directed by Joseph Stalin and marked the USSR's commitment to developing a national science, separated from the global scientific community. As a result, substantial losses occurred in Soviet agriculture, genetics, evolutionary theory, and molecular biology, and the transmission of scientific values and traditions between generations was interrupted. This article reviews the ideological, political, economic, social, cultural, personal, moral, and ethical factors that influenced the August 1948 session, and its immediate and later consequences. We also outline current attempts to revise the role of the August session and whitewash Lysenko.}, }
@article {pmid31050681, year = {2019}, author = {Bi, K and Linderoth, T and Singhal, S and Vanderpool, D and Patton, JL and Nielsen, R and Moritz, C and Good, JM}, title = {Temporal genomic contrasts reveal rapid evolutionary responses in an alpine mammal during recent climate change.}, journal = {PLoS genetics}, volume = {15}, number = {5}, pages = {e1008119}, doi = {10.1371/journal.pgen.1008119}, pmid = {31050681}, issn = {1553-7404}, support = {T32 HG000047/HG/NHGRI NIH HHS/United States ; S10 RR029668/RR/NCRR NIH HHS/United States ; S10 RR027303/RR/NCRR NIH HHS/United States ; R01 HD073439/HD/NICHD NIH HHS/United States ; R01 GM098536/GM/NIGMS NIH HHS/United States ; }, mesh = {Adaptation, Physiological/*genetics ; Alleles ; Altitude ; Animal Distribution ; Animals ; Arachidonate 15-Lipoxygenase/*genetics ; Biological Evolution ; Climate Change ; Gene Expression ; Gene Flow ; Gene Frequency ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Hypoxia/genetics ; Sciuridae/classification/*genetics ; Species Specificity ; Whole Exome Sequencing ; }, abstract = {Many species have experienced dramatic changes in their abundance and distribution during recent climate change, but it is often unclear whether such ecological responses are accompanied by evolutionary change. We used targeted exon sequencing of 294 museum specimens (160 historic, 134 modern) to generate independent temporal genomic contrasts spanning a century of climate change (1911-2012) for two co-distributed chipmunk species: an endemic alpine specialist (Tamias alpinus) undergoing severe range contraction and a stable mid-elevation species (T. speciosus). Using a novel analytical approach, we reconstructed the demographic histories of these populations and tested for evidence of recent positive directional selection. Only the retracting species showed substantial population genetic fragmentation through time and this was coupled with positive selection and substantial shifts in allele frequencies at a gene, Alox15, involved in regulation of inflammation and response to hypoxia. However, these rapid population and gene-level responses were not detected in an analogous temporal contrast from another area where T. alpinus has also undergone severe range contraction. Collectively, these results highlight that evolutionary responses may be variable and context dependent across populations, even when they show seemingly synchronous ecological shifts. Our results demonstrate that temporal genomic contrasts can be used to detect very recent evolutionary responses within and among contemporary populations, even in the face of complex demographic changes. Given the wealth of specimens archived in natural history museums, comparative analyses of temporal population genomic data have the potential to improve our understanding of recent and ongoing evolutionary responses to rapidly changing environments.}, }
@article {pmid31010305, year = {2019}, author = {Papp, Z}, title = {[Dr. Éva Oláh (1943-2019)].}, journal = {Orvosi hetilap}, volume = {160}, number = {17}, pages = {643-645}, doi = {10.1556/650.2019.31500}, pmid = {31010305}, issn = {1788-6120}, mesh = {Female ; General Surgery/education/*history ; Genetics, Medical/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@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}, doi = {10.1534/genetics.118.301594}, 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 {pmid30948031, year = {2019}, author = {Cameron, RA}, title = {A personal history of the echinoderm genome sequencing.}, journal = {Methods in cell biology}, volume = {151}, number = {}, pages = {55-61}, doi = {10.1016/bs.mcb.2019.03.008}, pmid = {30948031}, issn = {0091-679X}, mesh = {Animals ; Chromosome Mapping ; Echinodermata/genetics ; Genome/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Sea Urchins/*genetics ; }, abstract = {At the most fundamental level, the genome is the basis for questions about the mechanisms of development: how it works. This perspective provides a brief historical review of the sequencing of the echinoderm genome and the progress in answering this complex question, which depends on technological advances as well as intellectual ones.}, }
@article {pmid30858322, year = {2019}, author = {Azar, B}, title = {Profile of Daniel A. Haber.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {13}, pages = {5840-5842}, doi = {10.1073/pnas.1903223116}, pmid = {30858322}, issn = {1091-6490}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Massachusetts ; Medical Oncology/history ; United States ; }, }
@article {pmid30849326, year = {2019}, author = {Lupski, JR}, title = {2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.}, journal = {American journal of human genetics}, volume = {104}, number = {3}, pages = {391-406}, doi = {10.1016/j.ajhg.2018.12.018}, pmid = {30849326}, issn = {1537-6605}, mesh = {*Awards and Prizes ; *Chromosome Aberrations ; *Genetic Variation ; Genetics, Medical/*history ; *Genome, Human ; *Genomics ; History, 21st Century ; Humans ; *Leadership ; }, }
@article {pmid30849324, year = {2019}, author = {Kathiresan, S}, title = {2018 Curt Stern Award Address.}, journal = {American journal of human genetics}, volume = {104}, number = {3}, pages = {384-388}, doi = {10.1016/j.ajhg.2019.02.011}, pmid = {30849324}, issn = {1537-6605}, mesh = {*Awards and Prizes ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; History, 21st Century ; Humans ; Myocardial Infarction/epidemiology/*genetics/*prevention & control ; United States/epidemiology ; }, abstract = {This article is based on the address given by the author at the meeting of the American Society of Human Genetics (ASHG) on October 18, 2018, in San Diego, California. The audio of the original address can be found at the ASHG website.}, }
@article {pmid30849323, year = {2019}, author = {Lander, ES}, title = {2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations.}, journal = {American journal of human genetics}, volume = {104}, number = {3}, pages = {375-383}, doi = {10.1016/j.ajhg.2019.01.016}, pmid = {30849323}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Disease/*genetics ; Family ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; *Genetics, Population ; *Genome, Human ; Genome-Wide Association Study ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30846543, year = {2019}, author = {Strauss, BS}, title = {Martynas Yčas: The "Archivist" of the RNA Tie Club.}, journal = {Genetics}, volume = {211}, number = {3}, pages = {789-795}, doi = {10.1534/genetics.118.301754}, pmid = {30846543}, issn = {1943-2631}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA/chemistry/genetics/metabolism ; United States ; }, abstract = {Between about 1951 and the early 1960s, the basic structure of molecular biology was revealed. Central to our understanding was the unraveling of the various roles of RNA, culminating in the identification of messenger RNA (mRNA) and the deciphering of the genetic code. We know a great deal about the role of Brenner, Crick, Jacob, and Nirenberg in these discoveries, but many others played important supporting parts. One of these is a little-known scientist, Martynas Yčas, who appears in histories, generally without explanation, as the "archivist of the RNA Tie Club." Yčas was born in Lithuania. His father helped write the Lithuanian Constitution in 1919. He studied Roman Law and served in the Lithuanian army before escaping from the Russians in 1940. The records of correspondence of Yčas with the physicist George Gamow and with Francis Crick throw some light on the genesis of our understanding of the role of mRNA. The story of the "RNA Tie Club" illustrates the difficulty in assigning credit for important discoveries and underscores the importance of a free exchange of information, even (or especially) among competitors.}, }
@article {pmid30844063, year = {2019}, author = {Dujon, B}, title = {My route to the intimacy of genomes.}, journal = {FEMS yeast research}, volume = {19}, number = {3}, pages = {}, doi = {10.1093/femsyr/foz023}, pmid = {30844063}, issn = {1567-1364}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Recombination, Genetic ; Research ; Yeasts/*genetics ; }, abstract = {Being invited by a prestigious journal to write the retrospective of one's life is first a great honor, and then a chore when starting to do it. These feelings did not spare me. But trying to recall my past to the best of my memory, I learned how lucky I was to have been born to a generation that witnessed so many scientific discoveries. There is little in common between the genetic courses I taught recently and those that I received more than 50 years ago. Thinking that a tiny bit of this fantastic evolution might come from my accidental encountering with yeasts is a stunning experience. I wish the same for the new generation.}, }
@article {pmid30798827, year = {2019}, author = {Giampietro, PF}, title = {50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of 2400 Normal Newborn Infants.}, journal = {The Journal of pediatrics}, volume = {206}, number = {}, pages = {25}, doi = {10.1016/j.jpeds.2018.09.001}, pmid = {30798827}, issn = {1097-6833}, mesh = {Chromosome Banding/history ; Chromosomes, Human/*genetics ; Congenital Abnormalities/genetics ; Cytogenetics/history/*trends ; Ethics, Medical ; Female ; *Gene Dosage ; Gene Rearrangement ; Genetic Variation ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Klinefelter Syndrome/diagnosis ; Male ; Metaphase ; National Institutes of Health (U.S.) ; Oligonucleotide Array Sequence Analysis ; United States ; }, }
@article {pmid30765511, year = {2019}, author = {Frixione, E and Ruiz-Zamarripa, L}, title = {The "scientific catastrophe" in nucleic acids research that boosted molecular biology.}, journal = {The Journal of biological chemistry}, volume = {294}, number = {7}, pages = {2249-2255}, doi = {10.1074/jbc.CL119.007397}, pmid = {30765511}, issn = {1083-351X}, mesh = {Animals ; *DNA/chemistry/history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Nucleic Acid Conformation ; *RNA/chemistry/history/metabolism ; }, }
@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}, doi = {10.1038/s41576-019-0099-1}, 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 ; 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 {pmid30733376, year = {2019}, author = {Dung, SK and López, A and Barragan, EL and Reyes, RJ and Thu, R and Castellanos, E and Catalan, F and Huerta-Sánchez, E and Rohlfs, RV}, title = {Illuminating Women's Hidden Contribution to Historical Theoretical Population Genetics.}, journal = {Genetics}, volume = {211}, number = {2}, pages = {363-366}, doi = {10.1534/genetics.118.301277}, pmid = {30733376}, issn = {1943-2631}, support = {R35 GM128946/GM/NIGMS NIH HHS/United States ; UL1 GM118985/GM/NIGMS NIH HHS/United States ; }, mesh = {*Authorship ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/statistics & numerical data ; Sexism/history/*statistics & numerical data ; Women/*history ; }, abstract = {While productivity in academia is measured through authorship, not all scientific contributors have been recognized as authors. We consider nonauthor "acknowledged programmers" (APs), who developed, ran, and sometimes analyzed the results of computer programs. We identified APs in Theoretical Population Biology articles published between 1970 and 1990, finding that APs were disproportionately women (P = 4.0 × 10-10). We note recurrent APs who contributed to several highly-cited manuscripts. The occurrence of APs decreased over time, corresponding to the masculinization of computer programming and the shift of programming responsibilities to individuals credited as authors. We conclude that, while previously overlooked, historically, women have made substantial contributions to computational biology. For a video of this abstract, see: https://vimeo.com/313424402.}, }
@article {pmid30728085, year = {2019}, author = {Moniz, MBJ and Hutton, FG}, title = {Genetics Research turns a new [open access] leaf….}, journal = {Genetics research}, volume = {101}, number = {}, pages = {e1}, doi = {10.1017/S0016672318000071}, pmid = {30728085}, issn = {1469-5073}, mesh = {Access to Information/*history ; Genetics/history/*trends ; History, 20th Century ; History, 21st Century ; Research/trends ; }, }
@article {pmid30706092, year = {2019}, author = {Kasahara, M and Flajnik, MF and Takahama, Y}, title = {Biology, evolution, and history of antigen processing and presentation: Immunogenetics special issue 2019.}, journal = {Immunogenetics}, volume = {71}, number = {3}, pages = {137-139}, doi = {10.1007/s00251-019-01107-y}, pmid = {30706092}, issn = {1432-1211}, support = {R56 AI140326/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Antigen Presentation/*immunology ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; Major Histocompatibility Complex/*immunology ; }, }
@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 {pmid30661654, year = {2019}, author = {Morganti, S and Tarantino, P and Ferraro, E and D'Amico, P and Viale, G and Trapani, D and Duso, BA and Curigliano, G}, title = {Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life.}, journal = {Critical reviews in oncology/hematology}, volume = {133}, number = {}, pages = {171-182}, doi = {10.1016/j.critrevonc.2018.11.008}, pmid = {30661654}, issn = {1879-0461}, mesh = {*Data Interpretation, Statistical ; Diagnostic Tests, Routine/history/methods/statistics & numerical data ; Disease Progression ; *Genomics/history/methods/standards ; *High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Neoplasms/diagnosis/*genetics/*therapy ; *Precision Medicine/history/methods/standards ; Research Design/standards ; }, abstract = {The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.}, }
@article {pmid30652837, year = {2018}, author = {Barciszewski, J and Szymański, M and Malesa, A and Olszewska, D and Markiewicz, W and Barciszewski, J}, title = {[Origins of molecular life sciences. Polish context].}, journal = {Postepy biochemii}, volume = {64}, number = {1}, pages = {55-66}, doi = {10.18388/pb.2018_105}, pmid = {30652837}, issn = {0032-5422}, mesh = {Biological Science Disciplines/*history ; History, 20th Century ; Molecular Biology/*history ; Poland ; }, abstract = {Different scientific disciplines such as physics, genetics or biochemistry crossed over into molecular biology in the last century. The Polish state didn't existed at the beginning of XX century, but the territory for a large number of scientists was not a limitation in delineating new routes, making fundamental discoveries or training the new generation of distinguished people of sciences. We want to tell the story of roots of molecular biology from the Polish perspective and outline its importance, by bringing closer the most essential discoveries of elite scientists in different fields of life science, associated with Poland and its territory.}, }
@article {pmid30639424, year = {2019}, author = {Livi, GP}, title = {Halcyon days of TOR: Reflections on the multiple independent discovery of the yeast and mammalian TOR proteins.}, journal = {Gene}, volume = {692}, number = {}, pages = {145-155}, doi = {10.1016/j.gene.2018.12.046}, pmid = {30639424}, issn = {1879-0038}, mesh = {Animals ; Drug Resistance, Fungal/drug effects/genetics ; Fungal Proteins/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Mammals ; Mechanistic Target of Rapamycin Complex 1/genetics/metabolism ; Mechanistic Target of Rapamycin Complex 2/genetics/metabolism ; Molecular Biology/*history ; Mutation ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Saccharomyces cerevisiae Proteins/*genetics/metabolism ; Sirolimus/pharmacology ; Structure-Activity Relationship ; TOR Serine-Threonine Kinases/chemistry/*metabolism ; Tacrolimus Binding Protein 1A/genetics/*metabolism ; }, abstract = {The quest to elucidate the molecular mechanism of action of rapamycin in the early 1990s led to the discovery of the novel TOR (target of rapamycin) proteins in yeast and mammalian cells. This was a major breakthrough that resulted in the development of new rapamycin analogs as anti-cancer agents, and launched new research that revealed the pre-eminent biological role of mTOR (mammalian or mechanistic TOR). Beyond mediating rapamycin sensitivity, the TOR proteins are nutrient sensing protein kinases, conserved from yeast to man, with a core function in regulating cell growth, metabolism and overall cell survival. There have been many insightful historical accounts of the origins of TOR; however, the complete TOR dossier would benefit from a chapter on the untold story of the simultaneous co-discovery of the yeast TOR proteins by two independent laboratories, one that is inclusive of the discoveries made at the former SmithKline Beecham (legacy GlaxoSmithKline). Accordingly, this comprehensive retrospective retraces the provenance of yeast TOR (circa 1990-1996) and highlights the early groundbreaking publications that revealed the identity of the TOR genes and proteins. It also commemorates key companion papers which helped to clarify yeast TOR gene nomenclature, identified structural motifs in the predicted TOR protein sequences, demonstrated interactions between yeast FKBP12-rapamycin and TOR, characterized mutations responsible for drug resistance, and began to decipher TOR protein function; some of these crucial early studies appeared in this journal (e.g., Koser et al., 1993. Gene 129, 159-165; Cafferkey et al., 1994. Gene 141, 133-136; Freeman and Livi, 1996. Gene 172, 143-147). A period of intensive investigation, events are portrayed chronologically and juxtaposed alongside the independent parallel efforts to identify and purify mTOR. Finally, in a broader historical context, TOR and mTOR are examined a posteriori as paragons of multiple discovery, illustrating how this common phenomenon (also known as simultaneous invention) can greatly accelerate problem solving and advance human knowledge in a fast-breaking area of scientific research.}, }
@article {pmid30626637, year = {2019}, author = {Haloupek, N}, title = {Barbara J. Meyer: 2018 Thomas Hunt Morgan Medal.}, journal = {Genetics}, volume = {211}, number = {1}, pages = {1-3}, doi = {10.1534/genetics.118.301883}, pmid = {30626637}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America's (GSA) Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2018 Morgan Medal, Barbara J. Meyer of the Howard Hughes Medical Institute and the University of California, Berkeley, is recognized for her career-long, groundbreaking investigations of how chromosome behaviors are controlled. Meyer's work has revealed mechanisms of sex determination and dosage compensation in Caenorhabditis elegans that continue to serve as the foundation of diverse areas of study on chromosome structure and function today, nearly 40 years after she began her work on the topic.}, }
@article {pmid30611771, year = {2019}, author = {Jager, MJ and Brand, A and Claas, FHJ}, title = {Jon van Rood: The pioneer and his personal view on the early developments of HLA and immunogenetics.}, journal = {Transplant immunology}, volume = {52}, number = {}, pages = {1-26}, doi = {10.1016/j.trim.2018.12.006}, pmid = {30611771}, issn = {1878-5492}, mesh = {Blood Transfusion ; HLA Antigens/*immunology ; Hematopoietic Stem Cell Transplantation ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; *Transplantation Immunology ; }, abstract = {A single observation in a patient with an unusual transfusion reaction led to a life-long fascination with immunogenetics, and a strong wish to improve the care for patients needing a transplantation. In 2017, Jon van Rood, one of the pioneers in the field of HLA and immunogenetics of transplantation, passed away. Several obituaries have appeared describing some of the highlights of his career. However, the details of the early developments leading among others to the routine use of HLA as an important parameter for donor selection in organ- and hematopoietic stem cell transplantation are largely unknown to the community. After his retirement as Chair of the Department of Immunohaematology and Blood Transfusion (IHB) in 1991, Jon van Rood wrote regularly in the "Crosstalk", the departmental journal, and gave his personal view on the history of the discovery and implications of HLA. These autobiographic descriptions were originally written in Dutch and have been translated, while texts from other sources and the relevant references have been added to illustrate the historical perspective. This special issue of Transplant Immunology combines the autobiographic part, Jon's own version of the history, with other facts of his scientific life and the impact of his findings on the field of clinical transplantation. Hopefully, this knowledge of the history will be of benefit for future developments in transplantation immunology.}, }
@article {pmid30604835, year = {2018}, author = {Krumlauf, R}, title = {Hox genes, clusters and collinearity.}, journal = {The International journal of developmental biology}, volume = {62}, number = {11-12}, pages = {659-663}, doi = {10.1387/ijdb.180330rr}, pmid = {30604835}, issn = {1696-3547}, mesh = {Animals ; Body Patterning/genetics ; *Gene Expression Regulation, Developmental ; *Genes, Homeobox ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {This year marks the 40th anniversary of the discovery by Ed Lewis of the property of collinearity in the bithorax gene complex in Drosophila. This landmark work illustrated the need to understand regulatory mechanisms that coordinate expression of homeotic gene clusters. Through the efforts of many groups, investigation of the Hox gene family has generated many fundamental findings on the roles and regulation of this conserved gene family in development, disease and evolution. This has led to a number of important conceptual advances in gene regulation and evolutionary biology. This article presents some of the history and advances made through studies on Hox gene clusters.}, }
@article {pmid30601140, year = {2019}, author = {Neill, US}, title = {A conversation with Mary-Claire King.}, journal = {The Journal of clinical investigation}, volume = {129}, number = {1}, pages = {1-3}, doi = {10.1172/JCI126050}, pmid = {30601140}, issn = {1558-8238}, mesh = {Animals ; BRCA1 Protein/genetics/*history ; Female ; Genetics, Medical/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid30584186, year = {2018}, author = {}, title = {GGS Prize 2018.}, journal = {Genes & genetic systems}, volume = {93}, number = {5}, pages = {169}, doi = {10.1266/ggs.93.169}, pmid = {30584186}, issn = {1880-5779}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Periodicals as Topic/*history ; }, }
@article {pmid30579463, year = {2019}, author = {Heithaus, JL}, title = {50 Years Ago in The Journal Of Pediatrics: Cytogenetics in Mentally Defective Children with Anomalies: A Controlled Study.}, journal = {The Journal of pediatrics}, volume = {204}, number = {}, pages = {161}, doi = {10.1016/j.jpeds.2018.07.063}, pmid = {30579463}, issn = {1097-6833}, mesh = {Child ; Cytogenetics/*history/methods ; History, 20th Century ; Humans ; Intellectual Disability/diagnosis/*genetics/history ; Pediatrics/*history ; }, }
@article {pmid30575338, year = {2018}, author = {}, title = {12th East-West Immunogenetics Conference, 8-9th March 2018, City Conference Centre, Prague, Czech Republic.}, journal = {HLA}, volume = {92 Suppl 2}, number = {}, pages = {67-78}, doi = {10.1111/tan.13442}, pmid = {30575338}, issn = {2059-2310}, mesh = {Czech Republic ; Graft Rejection/diagnosis/genetics/*immunology/prevention & control ; Graft Survival/physiology ; Hematopoietic Stem Cell Transplantation/*methods ; Histocompatibility/genetics ; Histocompatibility Testing ; History, 21st Century ; Humans ; *Immune Tolerance ; Immunogenetics/history/methods/*trends ; Immunosuppressive Agents/therapeutic use ; Organ Transplantation/*methods ; Tissue Donors/supply & distribution ; }, }
@article {pmid30571458, year = {2018}, author = {Sallam, T}, title = {Stephen G. Young.}, journal = {Circulation research}, volume = {123}, number = {11}, pages = {1192-1195}, doi = {10.1161/CIRCRESAHA.118.314236}, pmid = {30571458}, issn = {1524-4571}, mesh = {Biomedical Research/ethics/standards ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid30554668, year = {2018}, author = {Henn, BM and Quintana-Murci, L}, title = {Editorial overview: The history, geography and adaptation of human genes: A tribute to L. Luca Cavalli-Sforza.}, journal = {Current opinion in genetics & development}, volume = {53}, number = {}, pages = {iii-v}, doi = {10.1016/j.gde.2018.11.004}, pmid = {30554668}, issn = {1879-0380}, mesh = {Adaptation, Physiological/genetics ; Genetics, Population/*history ; Geography ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; }, }
@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}, doi = {10.1007/s00438-018-1519-1}, 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 {pmid30523165, year = {2018}, author = {Charlesworth, D}, title = {Mogens Westergaard's Contributions to Understanding Sex Chromosomes.}, journal = {Genetics}, volume = {210}, number = {4}, pages = {1143-1149}, doi = {10.1534/genetics.118.301128}, pmid = {30523165}, issn = {1943-2631}, mesh = {Alleles ; Chromosomes, Plant/genetics ; *Evolution, Molecular ; Genetic Linkage ; Genetics/*history ; History, 20th Century ; Magnoliopsida/*genetics ; Sex Chromosomes/genetics ; Sex Determination Processes/*genetics ; }, abstract = {A long-standing question in biology concerns the genetic mechanisms by which two sexes can evolve (botanists call this the dioecious condition and zoologists call it gonochory) from a functionally ancestral hermaphroditic state (without separate sexes). In 1932, H. J. Muller, one of the great 20th century geneticists but also a fine evolutionary biologist, pointed out that two mutations were necessary. It was therefore puzzling that sex determination often involves a single genetic locus. Muller believed that the evolution of a single-gene system was possible, because maize geneticists had synthesized a single-gene system with separate sexes. However, this system is highly artificial, requiring geneticists to actively eliminate the wild-type allele at one of the two genes involved. This genetic system cannot therefore explain the natural evolution of dioecy. In 1958, Westergaard reviewed studies from a diversity of flowering plants, and showed that the genetics of natural sex determination in plants does not support the maize system. Instead, the genetic results pointed to a model involving two separate factors, with close linkage creating a single genetic locus. Moreover, Westergaard also pointed out that a two-gene model offers a natural explanation for the evolution of suppressed recombination between sex chromosome pairs. Studying plants allowed genetic analyses of the early steps in the evolution of dioecy, using dioecious species that evolved recently from species without separate sexes, whereas Muller failed to fully understand such evolutionary changes because he focused on animals, where later changes have often happened and obscured the early stages.}, }
@article {pmid30523164, year = {2018}, author = {Haloupek, N}, title = {Mariana Wolfner: 2018 Genetics Society of America Medal.}, journal = {Genetics}, volume = {210}, number = {4}, pages = {1139-1141}, doi = {10.1534/genetics.118.301772}, pmid = {30523164}, issn = {1943-2631}, mesh = {Animals ; *Awards and Prizes ; Drosophila melanogaster/*genetics ; Genetics/*history/*trends ; History, 21st Century ; Humans ; Seminal Plasma Proteins/genetics ; Sexual Behavior ; Societies, Scientific ; }, abstract = {The Genetics Society of America (GSA) Medal recognizes researchers who have made outstanding contributions to the field of genetics in the past 15 years. The 2018 GSA Medal has been awarded to Mariana Wolfner of Cornell University for her work on reproductive processes that occur around the time of fertilization. This includes characterization of seminal proteins in Drosophila melanogaster, which has uncovered a wealth of information about sexual conflict in evolution.}, }
@article {pmid30530852, year = {2018}, author = {Russell, DW}, title = {Lucky, times ten: A career in Texas science.}, journal = {The Journal of biological chemistry}, volume = {293}, number = {49}, pages = {18804-18827}, doi = {10.1074/jbc.X118.005918}, pmid = {30530852}, issn = {1083-351X}, support = {P01 HL020948/HL/NHLBI NIH HHS/United States ; PL1 DK081182/DK/NIDDK NIH HHS/United States ; R01 AR051943/AR/NIAMS NIH HHS/United States ; }, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Texas ; }, abstract = {On January 21, 2017, I received an E-mail from Herb Tabor that I had been simultaneously hoping for and dreading for several years: an invitation to write a "Reflections" article for the Journal of Biological Chemistry On the one hand, I was honored to receive an invitation from Herb, a man I have admired for over 40 years, known for 24 years, and worked with as a member of the Editorial Board and Associate Editor of the Journal of Biological Chemistry for 17 years. On the other hand, the invitation marked the waning of my career as an academic scientist. With these conflicting emotions, I wrote this article with the goals of recording my career history and recognizing the many mentors, trainees, and colleagues who have contributed to it and, perhaps with pretension, with the desire that students who are beginning a career in research will find inspiration in the path I have taken and appreciate the importance of luck.}, }
@article {pmid30501998, year = {2019}, author = {Arnone, MI and Oliveri, P and Martinez, P}, title = {A conceptual history of the "regulatory genome": From Theodor Boveri to Eric Davidson.}, journal = {Marine genomics}, volume = {44}, number = {}, pages = {24-31}, doi = {10.1016/j.margen.2018.11.003}, pmid = {30501998}, issn = {1876-7478}, mesh = {Animals ; *Gene Regulatory Networks ; *Genome ; Genomics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {The formalization of the idea of "Regulatory Genome" is a recent one. However, it stems from a long tradition in the study of how the genetic information is transferred between generations. Theodore Boveri suggested for the first time that the whole genome participates in the shaping of individuals. Through a long lineage of researchers, we have learned how this whole-genome activity is regulated, in space and time. It is, however, due to the insights and experimental approaches taken by different researchers, among them Eric Davidson and associates, that we understand the mechanistic basis of this regulation. Whole batteries of regulatory genes interact through their cis-regulatory modules, generating a precise pattern of cross-controlled gene activity (Gene Regulatory Networks). How these genes are deployed in development and evolution has become an area of vibrant research. Here we revisit the history of this intellectual endeavour, taking as key defining points along this historical trajectory the contributions of Theodor Boveri and Eric Davidson.}, }
@article {pmid30485586, year = {2019}, author = {Hard, JJ}, title = {Robin S. Waples-Recipient of the 2018 Molecular Ecology Prize.}, journal = {Molecular ecology}, volume = {28}, number = {1}, pages = {29-32}, doi = {10.1111/mec.14959}, pmid = {30485586}, issn = {1365-294X}, mesh = {*Awards and Prizes ; Ecology/*trends ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30482271, year = {2018}, author = {Xue, Y and Zhang, Y}, title = {Highlights of genetics research over the past four decades in China.}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {45}, number = {11}, pages = {561-562}, doi = {10.1016/j.jgg.2018.11.001}, pmid = {30482271}, issn = {1673-8527}, mesh = {Animals ; China ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research/*history ; }, }
@article {pmid30478371, year = {2018}, author = {Datta, MS and Kishony, R}, title = {A spotlight on bacterial mutations for 75 years.}, journal = {Nature}, volume = {563}, number = {7733}, pages = {633-644}, doi = {10.1038/d41586-018-07521-8}, pmid = {30478371}, issn = {1476-4687}, mesh = {Animals ; Bacteria/cytology/*genetics/virology ; Bacteriophages/pathogenicity ; CRISPR-Cas Systems/genetics ; Escherichia coli/cytology/genetics/virology ; *Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Models, Genetic ; Molecular Biology/*history ; Mutagenesis ; *Mutation ; Poisson Distribution ; Selection, Genetic/*genetics ; Streptococcus thermophilus/cytology/genetics/virology ; }, }
@article {pmid30467159, year = {2018}, author = {Ramakrishnan, V and Henderson, R}, title = {Thomas A. Steitz (1940-2018).}, journal = {Science (New York, N.Y.)}, volume = {362}, number = {6417}, pages = {897}, doi = {10.1126/science.aav8253}, pmid = {30467159}, issn = {1095-9203}, support = {MC_U105184332//Medical Research Council/United Kingdom ; }, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Ribosomes/*ultrastructure ; United States ; }, }
@article {pmid30459119, year = {2018}, author = {Cai, L and Zheng, LA and He, L}, title = {The forty years of medical genetics in China.}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {45}, number = {11}, pages = {569-582}, doi = {10.1016/j.jgg.2018.10.001}, pmid = {30459119}, issn = {1673-8527}, mesh = {Asian Continental Ancestry Group/genetics ; Biomedical Research/history/organization & administration ; China ; Genetic Diseases, Inborn/*genetics/history ; Genetics, Medical/*history/organization & administration ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy, Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a well-constructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection, along with strong support at the national industry level.}, }
@article {pmid30457467, year = {2018}, author = {Ma, Q and Adua, E and Boyce, MC and Li, X and Ji, G and Wang, W}, title = {IMass Time: The Future, in Future!.}, journal = {Omics : a journal of integrative biology}, volume = {22}, number = {11}, pages = {679-695}, doi = {10.1089/omi.2018.0162}, pmid = {30457467}, issn = {1557-8100}, mesh = {Artificial Intelligence/*trends ; Big Data ; Glycomics/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Lipids/chemistry ; Mass Spectrometry/*history/methods/trends ; Metabolomics/history/methods ; Nobel Prize ; Proteins/chemistry ; Proteomics/history/methods ; }, abstract = {Joseph John Thomson discovered and proved the existence of electrons through a series of experiments. His work earned him a Nobel Prize in 1906 and initiated the era of mass spectrometry (MS). In the intervening time, other researchers have also been awarded the Nobel Prize for significant advances in MS technology. The development of soft ionization techniques was central to the application of MS to large biological molecules and led to an unprecedented interest in the study of biomolecules such as proteins (proteomics), metabolites (metabolomics), carbohydrates (glycomics), and lipids (lipidomics), allowing a better understanding of the molecular underpinnings of health and disease. The interest in large molecules drove improvements in MS resolution and now the challenge is in data deconvolution, intelligent exploitation of heterogeneous data, and interpretation, all of which can be ameliorated with a proposed IMass technology. We define IMass as a combination of MS and artificial intelligence, with each performing a specific role. IMass will offer advantages such as improving speed, sensitivity, and analyses of large data that are presently not possible with MS alone. In this study, we present an overview of the MS considering historical perspectives and applications, challenges, as well as insightful highlights of IMass.}, }
@article {pmid30455036, year = {2018}, author = {Duan, CG and Zhu, JK and Cao, X}, title = {Retrospective and perspective of plant epigenetics in China.}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {45}, number = {11}, pages = {621-638}, doi = {10.1016/j.jgg.2018.09.004}, pmid = {30455036}, issn = {1673-8527}, mesh = {DNA Methylation ; *Epigenesis, Genetic ; Epigenomics/*history ; Gene Expression Regulation, Plant ; Histones/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Plant Proteins/genetics/metabolism ; Plants/*genetics/metabolism ; }, abstract = {Epigenetics refers to the study of heritable changes in gene function that do not involve changes in the DNA sequence. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors or be part of normal developmental program. In eukaryotes, DNA wraps on a histone octamer (two copies of H2A, H2B, H3 and H4) to form nucleosome, the fundamental unit of chromatin. The structure of chromatin is subjected to a dynamic regulation through multiple epigenetic mechanisms, including DNA methylation, histone posttranslational modifications (PTMs), chromatin remodeling and noncoding RNAs. As conserved regulatory mechanisms in gene expression, epigenetic mechanisms participate in almost all the important biological processes ranging from basal development to environmental response. Importantly, all of the major epigenetic mechanisms in mammalians also occur in plants. Plant studies have provided numerous important contributions to the epigenetic research. For example, gene imprinting, a mechanism of parental allele-specific gene expression, was firstly observed in maize; evidence of paramutation, an epigenetic phenomenon that one allele acts in a single locus to induce a heritable change in the other allele, was firstly reported in maize and tomato. Moreover, some unique epigenetic mechanisms have been evolved in plants. For example, the 24-nt siRNA-involved RNA-directed DNA methylation (RdDM) pathway is plant-specific because of the involvements of two plant-specific DNA-dependent RNA polymerases, Pol IV and Pol V. A thorough study of epigenetic mechanisms is of great significance to improve crop agronomic traits and environmental adaptability. In this review, we make a brief summary of important progress achieved in plant epigenetics field in China over the past several decades and give a brief outlook on future research prospects. We focus our review on DNA methylation and histone PTMs, the two most important aspects of epigenetic mechanisms.}, }
@article {pmid30442340, year = {2018}, author = {Folle, GA}, title = {Chromosomes forever Prof. Máximo Eduardo Drets (1930-2017).}, journal = {Mutation research. Genetic toxicology and environmental mutagenesis}, volume = {836}, number = {Pt B}, pages = {2-3}, doi = {10.1016/j.mrgentox.2018.08.001}, pmid = {30442340}, issn = {1879-3592}, mesh = {*Chromosomes, Human ; Cytogenetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30429215, year = {2019}, author = {Uhlenbeck, OC}, title = {Thomas A. Steitz (1940-2018).}, journal = {RNA (New York, N.Y.)}, volume = {25}, number = {2}, pages = {169-172}, doi = {10.1261/rna.069575.118}, pmid = {30429215}, issn = {1469-9001}, mesh = {*Crystallography, X-Ray/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Nobel Prize ; }, }
@article {pmid30415837, year = {2018}, author = {Posth, C and Nakatsuka, N and Lazaridis, I and Skoglund, P and Mallick, S and Lamnidis, TC and Rohland, N and Nägele, K and Adamski, N and Bertolini, E and Broomandkhoshbacht, N and Cooper, A and Culleton, BJ and Ferraz, T and Ferry, M and Furtwängler, A and Haak, W and Harkins, K and Harper, TK and Hünemeier, T and Lawson, AM and Llamas, B and Michel, M and Nelson, E and Oppenheimer, J and Patterson, N and Schiffels, S and Sedig, J and Stewardson, K and Talamo, S and Wang, CC and Hublin, JJ and Hubbe, M and Harvati, K and Nuevo Delaunay, A and Beier, J and Francken, M and Kaulicke, P and Reyes-Centeno, H and Rademaker, K and Trask, WR and Robinson, M and Gutierrez, SM and Prufer, KM and Salazar-García, DC and Chim, EN and Müller Plumm Gomes, L and Alves, ML and Liryo, A and Inglez, M and Oliveira, RE and Bernardo, DV and Barioni, A and Wesolowski, V and Scheifler, NA and Rivera, MA and Plens, CR and Messineo, PG and Figuti, L and Corach, D and Scabuzzo, C and Eggers, S and DeBlasis, P and Reindel, M and Méndez, C and Politis, G and Tomasto-Cagigao, E and Kennett, DJ and Strauss, A and Fehren-Schmitz, L and Krause, J and Reich, D}, title = {Reconstructing the Deep Population History of Central and South America.}, journal = {Cell}, volume = {175}, number = {5}, pages = {1185-1197.e22}, doi = {10.1016/j.cell.2018.10.027}, pmid = {30415837}, issn = {1097-4172}, support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; FC001595/CRUK_/Cancer Research UK/United Kingdom ; FC001595/MRC_/Medical Research Council/United Kingdom ; FC001595/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Central America ; DNA, Ancient/analysis ; DNA, Mitochondrial/genetics ; Gene Flow ; Genetics, Population/*history ; *Genome, Human ; History, Ancient ; Humans ; Models, Theoretical ; South America ; }, abstract = {We report genome-wide ancient DNA from 49 individuals forming four parallel time transects in Belize, Brazil, the Central Andes, and the Southern Cone, each dating to at least ∼9,000 years ago. The common ancestral population radiated rapidly from just one of the two early branches that contributed to Native Americans today. We document two previously unappreciated streams of gene flow between North and South America. One affected the Central Andes by ∼4,200 years ago, while the other explains an affinity between the oldest North American genome associated with the Clovis culture and the oldest Central and South Americans from Chile, Brazil, and Belize. However, this was not the primary source for later South Americans, as the other ancient individuals derive from lineages without specific affinity to the Clovis-associated genome, suggesting a population replacement that began at least 9,000 years ago and was followed by substantial population continuity in multiple regions.}, }
@article {pmid30414532, year = {2019}, author = {Resta, RG}, title = {What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling.}, journal = {European journal of medical genetics}, volume = {62}, number = {5}, pages = {300-307}, doi = {10.1016/j.ejmg.2018.11.003}, pmid = {30414532}, issn = {1878-0849}, mesh = {Genetic Counseling/*history/methods/standards ; History, 20th Century ; History, 21st Century ; Humans ; Outcome and Process Assessment, Health Care ; }, abstract = {Genetic counseling as a formal clinical service was defined in 1947, though the first study of its effectiveness was not published until 1966. This history can be broadly divided in to 3 periods: 1) 1947-1980, when the focus was primarily on prevention of disability, 2) 1981-1995, when the rationales for counseling began to shift and the first studies on the psychosocial effects of genetic counseling started to appear, albeit still largely focused on reproduction, and 3) 1996 - Present, when genetic counselors increased their presence in oncology, cardiology, and other non-reproductive areas of genetic counseling. Changes in outcome measures of genetic counseling have been intertwined with technological advances in genetic testing, better and more sophisticated outcome measures, the growing professional independence and clinical positions of genetic counselors, and the influence of social scientists particularly from behavioral psychology. Despite advances, assessment of the effectiveness of genetic counseling continues is complicated by a lack of widespread agreement about the most appropriate outcome measures as well as research design problems. Broadly speaking though, genetic counseling tends to improve information recall, improve psychological well-being, and is generally well-regarded by patients.}, }
@article {pmid30401760, year = {2018}, author = {Haloupek, N}, title = {Job Dekker: 2018 Edward Novitski Prize.}, journal = {Genetics}, volume = {210}, number = {3}, pages = {745-746}, pmid = {30401760}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {The Genetics Society of America's (GSA) Edward Novitski Prize is awarded to researchers who have solved challenging problems in genetics through experiments that demonstrate exceptional creativity and ingenuity. Job Dekker of the University of Massachusetts Medical School has been selected for the 2018 award in recognition of his innovative approach to understanding chromosome interactions and nuclear organization. Among Dekker's contributions are the development of the now-ubiquitous approach of chromosome conformation capture and the discovery of topologically associating domains.}, }
@article {pmid30390178, year = {2018}, author = {Maxson Jones, K and Ankeny, RA and Cook-Deegan, R}, title = {The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {693-805}, pmid = {30390178}, issn = {1573-0387}, support = {P50-HG-003391//National Human Genome Research Institute (US)/International ; R01-HG-008918/HG/NHGRI NIH HHS/United States ; }, mesh = {Bermuda ; Genomics/*history/legislation & jurisprudence/standards ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history/legislation & jurisprudence ; Humans ; Information Dissemination/*history/legislation & jurisprudence/methods ; Molecular Biology/*history ; *Organizational Policy ; United Kingdom ; United States ; }, abstract = {The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandating daily release of HGP-funded DNA sequences into the public domain. The idea of daily sharing, we argue, emanated directly from strategies for large, goal-directed molecular biology projects first tested within the "community" of C. elegans researchers, and were introduced and defended for the HGP by the nematode biologists John Sulston and Robert Waterston. In the C. elegans community, and subsequently in the HGP, daily sharing served the pragmatic goals of quality control and project coordination. Yet in the HGP human genome, we also argue, the Bermuda Principles addressed concerns about gene patents impeding scientific advancement, and were aspirational and flexible in implementation and justification. They endured as an archetype for how rapid data sharing could be realized and rationalized, and permitted adaptation to the needs of various scientific communities. Yet in addition to the support of Sulston and Waterston, their adoption also depended on the clout of administrators at the US National Institutes of Health (NIH) and the UK nonprofit charity the Wellcome Trust, which together funded 90% of the HGP human sequencing effort. The other nations wishing to remain in the HGP consortium had to accommodate to the Bermuda Principles, requiring exceptions from incompatible existing or pending data access policies for publicly funded research in Germany, Japan, and France. We begin this story in 1963, with the biologist Sydney Brenner's proposal for a nematode research program at the Laboratory of Molecular Biology (LMB) at the University of Cambridge. We continue through 2003, with the completion of the HGP human reference genome, and conclude with observations about policy and the historiography of molecular biology.}, }
@article {pmid30386945, year = {2018}, author = {Green, ED and Donohue, CR}, title = {Special Issue Editors' Introduction: "Genomics and the Human Genome Project".}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {625-629}, doi = {10.1007/s10739-018-9548-5}, pmid = {30386945}, issn = {1573-0387}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; }, }
@article {pmid30386858, year = {2018}, author = {Tan, SY and Furubayashi, JK}, title = {Jacques Lucien Monod (1910-1976): Co-discoverer of the operon system.}, journal = {Singapore medical journal}, volume = {59}, number = {10}, pages = {555-556}, pmid = {30386858}, issn = {0037-5675}, mesh = {France ; History, 20th Century ; Humans ; Molecular Biology/*history ; *Operon ; Philately ; Philosophy ; }, }
@article {pmid30382834, year = {2018}, author = {Hanage, WP}, title = {From bacterial genomics to clinical epidemiology: an interview with Bill Hanage.}, journal = {BMC biology}, volume = {16}, number = {1}, pages = {122}, pmid = {30382834}, issn = {1741-7007}, mesh = {Clinical Medicine/*history ; Epidemiology/*history ; *Genome, Bacterial ; Genomics/*history ; History, 21st Century ; Massachusetts ; Microbiota/genetics ; Peer Review, Research ; Selection, Genetic ; }, abstract = {Bill Hanage is an Associate Professor of Epidemiology at Harvard School of Public Health, where he studies fundamental and applied epidemiology using genomic and evolutionary methods. Bill spoke to us about the different types of selection that determine pathogen populations, asking reviewers to highlight positives of papers, and whether we're closer to a causal framework for studying the microbiome.}, }
@article {pmid30369473, year = {2018}, author = {Chen, F and Lu, DR and Zhang, FX and Zhang, GF}, title = {[The development of genetics teaching in China in the last four decades and its future prospect].}, journal = {Yi chuan = Hereditas}, volume = {40}, number = {10}, pages = {916-923}, doi = {10.16288/j.yczz.18-171}, pmid = {30369473}, issn = {0253-9772}, mesh = {China ; Genetics/*education/history/standards ; History, 20th Century ; History, 21st Century ; Humans ; Teaching/education/*history/standards ; }, abstract = {Chinese genetics educators have carried out a comprehensive and systematic exploration and reform since 1978. With the guidance and help of the Genetics Society of China, they have made significant strides in the fields of genetics teaching system, publication of genetics textbooks, content of genetics teaching, workshop on genetics teaching, experimental teaching, application of advanced techniques, etc. These efforts have made remarkable achievements and promoted the vitality of genetics. The comprehensive development of education and teaching has trained a large number of excellent genetic talents for the development of China's economy and society. Here, we sum up the overall achievements of the teaching reform and propose some suggestions on the future development of genetics teaching in China, hoping that the quality of genetics teaching in China will take a new step in the new era.}, }
@article {pmid30369465, year = {2018}, author = {Sun, LY and Xing, QH and He, L}, title = {[Retrospect and prospect of the genetic research on birth defects in China].}, journal = {Yi chuan = Hereditas}, volume = {40}, number = {10}, pages = {800-813}, doi = {10.16288/j.yczz.18-181}, pmid = {30369465}, issn = {0253-9772}, mesh = {Animals ; China ; Congenital Abnormalities/*genetics/history ; Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {An important part of China's "Healthy China 2030" planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.}, }
@article {pmid30359186, year = {2018}, author = {Goldberg-Smith, P}, title = {Lisa Dorn.}, journal = {Circulation research}, volume = {123}, number = {10}, pages = {1115-1117}, doi = {10.1161/CIRCRESAHA.118.314188}, pmid = {30359186}, issn = {1524-4571}, mesh = {*Awards and Prizes ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid30355135, year = {2018}, author = {Ince, S}, title = {Roger J. Hajjar.}, journal = {Circulation research}, volume = {123}, number = {5}, pages = {524-527}, doi = {10.1161/CIRCRESAHA.118.313728}, pmid = {30355135}, issn = {1524-4571}, mesh = {Biomedical Engineering/*history ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Regenerative Medicine/*history ; }, }
@article {pmid30338423, year = {2018}, author = {Rajagopalan, RM and Fujimura, JH}, title = {Variations on a Chip: Technologies of Difference in Human Genetics Research.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {841-873}, pmid = {30338423}, issn = {1573-0387}, support = {R03HG005030/HG/NHGRI NIH HHS/United States ; R03HG006571/HG/NHGRI NIH HHS/United States ; 0621022//National Science Foundation/International ; }, mesh = {*Genetic Markers ; Genomics/*history ; History, 20th Century ; Human Genome Project/history ; Humans ; Oligonucleotide Array Sequence Analysis/*history ; *Polymorphism, Single Nucleotide ; }, abstract = {In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the "turn to difference" emerging as a post-Human Genome Project (HGP) phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic "genetic markers" for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms (SNPs) as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and "knowing" human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.}, }
@article {pmid30337139, year = {2018}, author = {Lowe, JWE}, title = {Sequencing through thick and thin: Historiographical and philosophical implications.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {72}, number = {}, pages = {10-27}, doi = {10.1016/j.shpsc.2018.10.007}, pmid = {30337139}, issn = {1879-2499}, mesh = {Animals ; *Genome ; Genomics/*history ; *Historiography ; History, 21st Century ; *Philosophy ; Sequence Analysis, DNA/history/*veterinary ; Sus scrofa/*genetics ; }, abstract = {DNA sequencing has been characterised by scholars and life scientists as an example of 'big', 'fast' and 'automated' science in biology. This paper argues, however, that these characterisations are a product of a particular interpretation of what sequencing is, what I call 'thin sequencing'. The 'thin sequencing' perspective focuses on the determination of the order of bases in a particular stretch of DNA. Based upon my research on the pig genome mapping and sequencing projects, I provide an alternative 'thick sequencing' perspective, which also includes a number of practices that enable the sequence to travel across and be used in wider communities. If we take sequencing in the thin manner to be an event demarcated by the determination of sequences in automated sequencing machines and computers, this has consequences for the historical analysis of sequencing projects, as it focuses attention on those parts of the work of sequencing that are more centralised, fast (and accelerating) and automated. I argue instead that sequencing can be interpreted as a more open-ended process including activities such as the generation of a minimum tile path or annotation, and detail the historiographical and philosophical consequences of this move.}, }
@article {pmid30307501, year = {2018}, author = {}, title = {Society for Glycobiology Awards - 2018.}, journal = {Glycobiology}, volume = {28}, number = {12}, pages = {906-909}, doi = {10.1093/glycob/cwy086}, pmid = {30307501}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; History, 21st Century ; Societies, Scientific/history ; }, }
@article {pmid30289603, year = {2018}, author = {Groden, J and Passarge, E}, title = {In memoriam James L. German, a pioneer in early human genetic research.}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {12}, pages = {2543-2544}, doi = {10.1002/ajmg.a.40513}, pmid = {30289603}, issn = {1552-4833}, mesh = {*Famous Persons ; *Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30287513, year = {2018}, author = {van Dijk, PJ and Weissing, FJ and Ellis, THN}, title = {How Mendel's Interest in Inheritance Grew out of Plant Improvement.}, journal = {Genetics}, volume = {210}, number = {2}, pages = {347-355}, pmid = {30287513}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 19th Century ; Plant Breeding/*history/methods ; Plant Diseases ; }, abstract = {Despite the fact that Gregor Mendel is generally respected as the founder of genetics, little is known about the origin of and motivation for his revolutionary work. No primary sources are known that discuss his work during the period of his pea crossing experiments. Here, we report on two previously unknown interconnected local newspaper articles about Mendel's work that predate his famous Pisum lectures by 4 years. These articles describe Mendel as a plant breeder and a horticulturist. We argue that Mendel's initial interests concerned crop improvement, but that with time he became more interested in fundamental questions about inheritance, fertilization, and natural hybridization.}, }
@article {pmid30287512, year = {2018}, author = {Haloupek, N}, title = {Philip Hieter: 2018 George W. Beadle Award.}, journal = {Genetics}, volume = {210}, number = {2}, pages = {345-346}, pmid = {30287512}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. For his work fostering communication and collaboration among members of the many subfields of genetics, Philip Hieter of the University of British Columbia has been named 2018's recipient of the award. Among his contributions are many initiatives that aim to better link human and model organism geneticists, including the Canadian Rare Diseases Models and Mechanisms Network-a consortium that connects investigators who identify rare disease genes in humans to basic scientists who can study the genes in model organisms.}, }
@article {pmid30266658, year = {2018}, author = {Scherrer, K}, title = {Primary transcripts: From the discovery of RNA processing to current concepts of gene expression - Review.}, journal = {Experimental cell research}, volume = {373}, number = {1-2}, pages = {1-33}, doi = {10.1016/j.yexcr.2018.09.011}, pmid = {30266658}, issn = {1090-2422}, mesh = {Cell Nucleus/genetics ; Gene Expression ; *Gene Expression Regulation ; Genetics/history ; Genome ; History, 20th Century ; History, 21st Century ; Nuclear Matrix/chemistry ; RNA Processing, Post-Transcriptional ; Transcription, Genetic ; }, abstract = {The main purpose of this review is to recall for investigators - and in particular students -, some of the early data and concepts in molecular genetics and biology that are rarely cited in the current literature and are thus invariably overlooked. There is a growing tendency among editors and reviewers to consider that only data produced in the last 10-20 years or so are pertinent. However this is not the case. In exact science, sound data and lucid interpretation never become obsolete, and even if forgotten, will resurface sooner or later. In the field of gene expression, covered in the present review, recent post-genomic data have indeed confirmed many of the earlier results and concepts developed in the mid-seventies, well before the start of the recombinant DNA revolution. Human brains and even the most powerful computers, have difficulty in handling and making sense of the overwhelming flow of data generated by recent high-throughput technologies. This was easier when low throughput, more integrative methods based on biochemistry and microscopy dominated biological research. Nowadays, the need for organising concepts is ever more important, otherwise the mass of available data can generate only "building ruins" - the bricks without an architect. Concepts such as pervasive transcription of genomes, large genomic domains, full domain transcripts (FDTs) up to 100 kb long, the prevalence of post-transcriptional events in regulating eukaryotic gene expression, and the 3D-genome architecture, were all developed and discussed before 1990, and are only now coming back into vogue. Thus, to review the impact of earlier concepts on later developments in the field, I will confront former and current data and ideas, including a discussion of old and new methods. Whenever useful, I shall first briefly report post-genomic developments before addressing former results and interpretations. Equally important, some of the terms often used sloppily in scientific discussions will be clearly defined. As a basis for the ensuing discussion, some of the issues and facts related to eukaryotic gene expression will first be introduced. In chapter 2 the evolution in perception of biology over the last 60 years and the impact of the recombinant DNA revolution will be considered. Then, in chapter 3 data and theory concerning the genome, gene expression and genetics will be reviewed. The experimental and theoretical definition of the gene will be discussed before considering the 3 different types of genetic information - the "Triad" - and the importance of post-transcriptional regulation of gene expression in the light of the recent finding that 90% of genomic DNA seems to be transcribed. Some previous attempts to provide a conceptual framework for these observations will be recalled, in particular the "Cascade Regulation Hypothesis" (CRH) developed in 1967-85, and the "Gene and Genon" concept proposed in 2007. A knowledge of the size of primary transcripts is of prime importance, both for experimental and theoretical reasons, since these molecules represent the primary units of the "RNA genome" on which most of the post-transcriptional regulation of gene expression occurs. In chapter 4, I will first discuss some current post-genomic topics before summarising the discovery of the high Mr-RNA transcripts, and the investigation of their processing spanning the last 50 years. Since even today, a consensus concerning the real form of primary transcripts in eukaryotic cells has not yet been reached, I will refer to the viral and specialized cellular models which helped early on to understand the mechanisms of RNA processing and differential splicing which operate in cells and tissues. As a well-studied example of expression and regulation of a specific cellular gene in relation to differentiation and pathology, I will discuss the early and recent work on expression of the globin genes in nucleated avian erythroblasts. An important concept is that the primary transcript not only embodies protein-coding information and regulation of its expression, but also the 3D-structure of the genomic DNA from which it was derived. The wealth of recent post-genomic data published in this field emphasises the importance of a fundamental principle of genome organisation and expression that has been overlooked for years even though it was already discussed in the 1970-80ties. These issues are addressed in chapter 5 which focuses on the involvement of the nuclear matrix and nuclear architecture in DNA and RNA biology. This section will make reference to the Unified Matrix Hypothesis (UMH), which was the first molecular model of the 3D organisation of DNA and RNA. The chapter on the "RNA-genome and peripheral memories" discusses experimental data on the ribonucleoprotein complexes containing pre-mRNA (pre-mRNPs) and mRNA (mRNPs) which are organised in nuclear and cytoplasmic spaces respectively. Finally, "Outlook " will enumerate currently unresolved questions in the field, and will propose some ideas that may encourage further investigation, and comprehension of available experimental data still in need of interpretation. In chapter 8, some propositions and paradigms basic to the authors own analysis are discussed. "In conclusion" the raison d'être of this review is recalled and positioned within the overall framework of scientific endeavour.}, }
@article {pmid30265852, year = {2018}, author = {Jonna, S and Giaccone, G and Subramaniam, DS}, title = {Understanding molecular diagnostic technology in oncology through the lens of lung cancer.}, journal = {Discovery medicine}, volume = {26}, number = {141}, pages = {21-29}, pmid = {30265852}, issn = {1944-7930}, mesh = {High-Throughput Nucleotide Sequencing ; History, 21st Century ; Humans ; Lung Neoplasms/drug therapy/*genetics ; *Medical Oncology ; Pathology, Molecular/history/*methods ; Protein Kinase Inhibitors/therapeutic use ; }, abstract = {Historically, advanced lung cancer conferred a poor prognosis, and chemotherapy only improved outcomes in patients with good performance status. The identification of certain molecular subtypes of non-small cell lung cancer changed the treatment paradigm by incorporating tumor genomic information into clinical decision-making. To meet the demands of this emerging approach, genomic technology rapidly expanded in an effort to detect specific driver mutations. While polymerase-chain reaction testing, immunohistochemistry, and fluorescent-in-situ hybridization have been standard-of-care, next-generation sequencing is increasingly replacing older technologies. Plasma-based testing is also gaining use given its convenience. Advances in molecular technology in this new era of precision medicine have led to the parallel development of companion diagnostics and novel tyrosine kinase inhibitors.}, }
@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 {pmid30224294, year = {2018}, author = {Leeming, W and Barahona, A}, title = {Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {71}, number = {}, pages = {8-16}, doi = {10.1016/j.shpsc.2018.08.002}, pmid = {30224294}, issn = {1879-2499}, mesh = {Canada ; Cytogenetics/*history ; History of Medicine ; History, 20th Century ; Humans ; Mexico ; }, abstract = {Most historians of science and medicine agree that medical interest in genetics intensified after 1930, and interest in the relationship of radiation damage and genetics continued and expanded after World War II. Moreover, they maintain that the synthesis and convergence of human genetics and cytological techniques in European centers resulted in their dissemination to centers in the United States, resulting in a new field of expertise focused on medicine and clinical research, known as cytogenetics. In this article, we broaden the scope of the inquiry by showing how the early histories of cytogenetics in Canada and Mexico unfolded against strikingly different backgrounds in clinical research and the delivery of health care. We thus argue that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries. The article provides a brief background to the history of human cytogenetics, and then outlines key developments related to the early adoption of cytogenetics in Canada and Mexico. Conclusions are then drawn using comparisons of the different ways in which local determinants affected adoption. We then propose directions for future study focused on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetics has come to be organised in medicine around the world.}, }
@article {pmid30216089, year = {2018}, author = {Wilson, JM}, title = {University Flunk-Out to Genomics Pioneer: An Interview with George Church, PhD.}, journal = {Human gene therapy. Clinical development}, volume = {29}, number = {3}, pages = {118-120}, doi = {10.1089/humc.2018.29035.int}, pmid = {30216089}, issn = {2324-8645}, mesh = {Genetic Therapy/*trends ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Universities ; }, }
@article {pmid30200847, year = {2018}, author = {Gottesman, S}, title = {Introduction.}, journal = {Annual review of microbiology}, volume = {72}, number = {}, pages = {i-ii}, doi = {10.1146/annurev-mi-72-070918-100001}, pmid = {30200847}, issn = {1545-3251}, mesh = {*Editorial Policies ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Molecular Biology/*history ; *Periodicals as Topic ; }, }
@article {pmid30200806, year = {2018}, author = {Lieberman, J}, title = {Unveiling the RNA World.}, journal = {The New England journal of medicine}, volume = {379}, number = {13}, pages = {1278-1280}, doi = {10.1056/NEJMcibr1808725}, pmid = {30200806}, issn = {1533-4406}, mesh = {*Awards and Prizes ; Female ; History, 21st Century ; Humans ; Mentors/*history ; Molecular Biology/*history ; *RNA/physiology ; RNA, Small Untranslated/physiology ; Sexism/prevention & control ; United States ; }, }
@article {pmid30199851, year = {2018}, author = {Jackson, S}, title = {RNA biologist Joan Steitz awarded the 2018 Lasker~Koshland Special Achievement prize.}, journal = {The Journal of clinical investigation}, volume = {128}, number = {10}, pages = {4195-4197}, pmid = {30199851}, issn = {1558-8238}, mesh = {Animals ; *Awards and Prizes ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; RNA Splicing/*physiology ; RNA, Messenger/*physiology ; }, }
@article {pmid30194700, year = {2019}, author = {Balzi, E and Moye-Rowley, WS}, title = {Unveiling the transcriptional control of pleiotropic drug resistance in Saccharomyces cerevisiae: Contributions of André Goffeau and his group.}, journal = {Yeast (Chichester, England)}, volume = {36}, number = {4}, pages = {195-200}, doi = {10.1002/yea.3354}, pmid = {30194700}, issn = {1097-0061}, support = {R01 GM049825/GM/NIGMS NIH HHS/United States ; }, mesh = {ATP-Binding Cassette Transporters ; Antifungal Agents/*pharmacology ; DNA-Binding Proteins/genetics ; Drug Resistance, Multiple, Fungal/*genetics ; *Gene Expression Regulation, Fungal ; History, 20th Century ; History, 21st Century ; Membrane Proteins/genetics ; Molecular Biology/history ; Saccharomyces cerevisiae/*drug effects/*genetics ; Saccharomyces cerevisiae Proteins/genetics ; Transcription Factors/genetics ; }, abstract = {Studies in the yeast Saccharomyces cerevisiae have provided much of the basic detail underlying the organization and regulation of multiple or pleiotropic drug resistance gene network in eukaryotic microbes. As with many aspects of yeast biology, the initial observations that drove the eventual molecular characterization of multidrug resistance gene were provided by genetics. This review focuses on contributions from the laboratory of Dr. André Goffeau that uncovered key aspects of the transcriptional regulation of these multidrug resistance genes. André's group made many seminal discoveries that helped lead to the current picture we have of how eukaryotic microbes respond to and deal with a variety of antifungal agents. The importance of the transcriptional contribution to antifungal drugs is illustrated by the large number of drug resistant mutants found in several yeast species that lead to increased activity of transcriptional regulators. The characterization of the Saccharomyces cerevisiae PDR1 gene by the Goffeau group provided the first molecular basis explaining the link between this hyperactive transcription factor and drug resistance.}, }
@article {pmid30190332, year = {2018}, author = {Harding, SE and Channell, G and Phillips-Jones, MK}, title = {The discovery of hydrogen bonds in DNA and a re-evaluation of the 1948 Creeth two-chain model for its structure.}, journal = {Biochemical Society transactions}, volume = {46}, number = {5}, pages = {1171-1182}, pmid = {30190332}, issn = {1470-8752}, support = {//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Animals ; Base Pairing ; Cattle ; DNA/*chemistry ; DNA Damage ; DNA Replication ; History, 20th Century ; Hydrogen ; *Hydrogen Bonding ; Hydrogen-Ion Concentration ; Molecular Biology/*history ; Nucleic Acid Conformation ; Nucleotides/chemistry ; Thymus Gland/chemistry ; Viscosity ; }, abstract = {We recall the experimental approaches involved in the discovery of hydrogen bonds in deoxyribonucleic acid (DNA) made 70 years ago by a team of scientists at University College Nottingham led by J.M. Gulland, and in relation to previous studies. This discovery proved an important step in the elucidation of the correct structure for DNA made by J.D. Watson and F.H.C. Crick, as acknowledged in 'The Double Helix'. At that time of the discovery, however, it was impossible to delineate between inter- and intra-chain hydrogen bonds. We also consider in the light of more recent hydrodynamic theory a tentative model for DNA proposed by Gulland's and D.O. Jordan's PhD student J.M. Creeth in his PhD thesis of 1948, with the correct prediction of two chains with a sugar-phosphate backbone on the exterior and hydrogen-bonded bases between the nucleotide bases of opposite chains in the interior. Our analysis shows that his incorporation of alternating breaks in the two-chain structure was not necessary to explain the viscosity data on scission of hydrogen bonds after titrating to high or low pH. Although Creeth's model is a depiction of DNA structure alone, he could not know whether the hydrogen bonding was intermolecular, although this was subsequently proved correct by others. The mechanisms by which replicative processes occurred were of course unknown at that time, and so, he could not have realised how closely his tentative model resembled steps in some viral replicative mechanisms involving the molecule of life that he was working on.}, }
@article {pmid30166445, year = {2018}, author = {Schaeffer, SW}, title = {Muller "Elements" in Drosophila: How the Search for the Genetic Basis for Speciation Led to the Birth of Comparative Genomics.}, journal = {Genetics}, volume = {210}, number = {1}, pages = {3-13}, pmid = {30166445}, issn = {1943-2631}, support = {R01 GM098478/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Chromosome Mapping/methods/*trends ; Chromosomes ; Comparative Genomic Hybridization/*history/methods/trends ; Drosophila/genetics/metabolism ; Evolution, Molecular ; Genetic Linkage/genetics ; Genetic Speciation ; Genome/genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Synteny ; }, abstract = {The concept of synteny, or conservation of genes on the same chromosome, traces its origins to the early days of Drosophila genetics. This discovery emerged from comparisons of linkage maps from different species of Drosophila with the goal of understanding the process of speciation. H. J. Muller published a landmark article entitled Bearings of the "Drosophila" work on systematics, where he synthesized genetic and physical map data and proposed a model of speciation and chromosomal gene content conservation. These models have withstood the test of time with the advent of molecular genetic analysis from protein to genome level variation. Muller's ideas provide a framework to begin to answer questions about the evolutionary forces that shape the structure of the genome.}, }
@article {pmid30154566, year = {2018}, author = {Zatz, M}, title = {Helping our country as women scientists.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1012}, doi = {10.1038/s41556-018-0161-9}, pmid = {30154566}, issn = {1476-4679}, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; Mentors/history ; Research Personnel/*history ; Stem Cell Research/*history ; Women, Working/*history ; }, }
@article {pmid30154559, year = {2018}, author = {Schuh, M}, title = {Taking a confident leap into uncertainty.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1007}, doi = {10.1038/s41556-018-0177-1}, pmid = {30154559}, issn = {1476-4679}, support = {MC_U105192711//Medical Research Council/United Kingdom ; }, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Research Personnel/*history ; Women, Working/*history ; Work-Life Balance ; }, }
@article {pmid30154558, year = {2018}, author = {Nik-Zainal, S}, title = {The duty to speak up.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1006}, doi = {10.1038/s41556-018-0171-7}, pmid = {30154558}, issn = {1476-4679}, support = {100183//Wellcome Trust/United Kingdom ; A22932//Cancer Research UK/United Kingdom ; A23433//Cancer Research UK/United Kingdom ; A23916//Cancer Research UK/United Kingdom ; }, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research Personnel/*history ; Sexism/*history ; Women, Working/*history ; }, }
@article {pmid30154552, year = {2018}, author = {Akhtar, A}, title = {Finding your way through the science maze.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1000}, doi = {10.1038/s41556-018-0175-3}, pmid = {30154552}, issn = {1476-4679}, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research Personnel/*history ; Women, Working/*history ; }, }
@article {pmid30140966, year = {2018}, author = {November, J}, title = {More than Moore's Mores: Computers, Genomics, and the Embrace of Innovation.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {807-840}, doi = {10.1007/s10739-018-9539-6}, pmid = {30140966}, issn = {1573-0387}, mesh = {Computers/*statistics & numerical data ; Genomics/*history/instrumentation ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Inventions/*statistics & numerical data ; National Human Genome Research Institute (U.S.)/*history ; United States ; }, abstract = {The genomics community has frequently compared advances in sequencing to advances in microelectronics. Lately there have been many claims, including by the National Human Genome Research Institute (NHGRI), that genomics is outpacing developments in computing as measured by Moore's law - the notion that computers double in processing capability per dollar spent every 18-24 months. Celebrations of the "$1000 genome" and other speed-related sequencing milestones might be dismissed as a distraction from genomics' slowness in delivering clinical breakthroughs, but the fact that such celebrations have been persistently encouraged by the NHGRI reveals a great deal about the priorities and expectations of the American general public, the intended audience of the genomics-computing comparison. By delving into the history of speculative thinking about sequencing and computing, this article demonstrates just how much more receptive to high-risk/high-payoff ventures the NIH and the general public have become. The article also provides access to some of the roots and consequences of the association of "innovation talk" with genomics, and the means to look past that association to the less glamorous (but arguably much more important) contributions of the NHGRI to building the field of genomics.}, }
@article {pmid30136864, year = {2018}, author = {Mezquita-Pla, J}, title = {Gordon H. Dixon's trace in my personal career and the quantic jump experienced in regulatory information.}, journal = {Systems biology in reproductive medicine}, volume = {64}, number = {6}, pages = {448-468}, doi = {10.1080/19396368.2018.1503752}, pmid = {30136864}, issn = {1939-6376}, mesh = {Animals ; *Gene Expression Regulation ; Genomics/*history ; Histones/*physiology ; History, 20th Century ; History, 21st Century ; RNA/physiology ; }, abstract = {Even before Rosalin Franklin had discovered the DNA double helix, in her impressive X-ray diffraction image pattern, Erwin Schröedinger, described, in his excellent book, What is Life, how the finding of aperiodic crystals in biological systems surprised him (an aperiodic crystal, which, in my opinion is the material carrier of life). In the 21st century and still far from being able to define life, we are attending to a quick acceleration of knowledge on regulatory information. With the discovery of new codes and punctuation marks, we will greatly increase our understanding in front of an impressive avalanche of genomic sequences. Trifonov et al. defined a genetic code as a widespread DNA sequence pattern that carries a message with an impact on biology. These patterns are largely captured in transcribed messages that give meaning and identity to the particular cells. In this review, I will go through my personal career in and after my years of work in the laboratory of Gordon H. Dixon, extending toward the impressive acquisition of new knowledge on regulatory information and genetic codes provided by remarkable scientists in the field. Abbreviations: CA II: carbonic anhydridase II (chicken); Car2: carbonic anhydridase 2 (mouse); CpG islands: short (>0.5 kb) stretches of DNA with a G+C content ≥55%; DNMT1: DNA methyltransferases 1; DNMT3b: DNA methyltransferases 3B; DSB: double-strand DNA breaks; ERT: endogenous retrotransposon; ERV: endogenous retroviruses; ES cells: embryonic stem cells; GAPDH: glyceraldehide phosphate dehydrogenase; H1: histone H1; HATs: histone acetyltransferases; HDACs: histone deacetylases; H3K4me3: histone 3 trimethylated at lys 4; H3K79me2: histone 3 dimethylated at lys 79; HMG: high mobility group proteins; HMT: histone methyltransferase; HP1: heterochromatin protein 1; HR: homologous recombination; HSE: heat-shock element; ICRs: imprinted control regions; IRF: interferon regulatory factor; LDH-A/-B: lactate dehydrogenase A/B; LTR: long terminal repeats; MeCP2: methyl CpG binding protein 2; OCT4: octamer-binding transcription factor 4; PAF1: RNA Polymerase II associated factor 1; piRNA: PIWI-interacting RNA; poly(A) tails: poly-adenine tails; PRC2: polycomb repressive complex 2; PTMs: post-translational modifications; SIRT 1: sirtuin 1, silent information regulator; STAT3: signal transducer and activator of transcription; tRNAs: transfer RNA; tRFs: tRNA-derived fragments; TSS: transcription start site; TE: transposable elements; UB I: polyubiquitin I; UB II: polyubiquitin II; UBE 2N: ubiquitin conjugating enzyme E2N; 5'-UTR: 5'-untranslated sequences; 3'-UTR: 3'-untranslated sequences.}, }
@article {pmid30108194, year = {2018}, author = {Neill, US}, title = {A conversation with Cornelia Bargmann.}, journal = {The Journal of clinical investigation}, volume = {128}, number = {7}, pages = {2655-2656}, doi = {10.1172/JCI122804}, pmid = {30108194}, issn = {1558-8238}, mesh = {Animals ; Caenorhabditis elegans/genetics/physiology ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Organizations ; United States ; }, }
@article {pmid30068681, year = {2018}, author = {Dufresnes, C and Miquel, C and Remollino, N and Biollaz, F and Salamin, N and Taberlet, P and Fumagalli, L}, title = {Howling from the past: historical phylogeography and diversity losses in European grey wolves.}, journal = {Proceedings. Biological sciences}, volume = {285}, number = {1884}, pages = {}, pmid = {30068681}, issn = {1471-2954}, mesh = {Animals ; DNA, Mitochondrial ; Europe ; *Genetic Variation ; Genetics, Population ; Haplotypes ; History, 19th Century ; History, 20th Century ; Phylogeography/history ; Population Dynamics ; Sequence Analysis, DNA ; Wolves/*genetics ; }, abstract = {Genetic bottlenecks resulting from human-induced population declines make alarming symbols for the irreversible loss of our natural legacy worldwide. The grey wolf (Canis lupus) is an iconic example of extreme declines driven by anthropogenic factors. Here, we assessed the genetic signatures of 150 years of wolf persecution throughout the Western Palaearctic by high-throughput mitochondrial DNA sequencing of historical specimens in an unprecedented spatio-temporal framework. Despite Late Pleistocene bottlenecks, we show that historical genetic variation had remained high throughout Europe until the last several hundred years. In Western Europe, where wolves nearly got fully exterminated, diversity dramatically collapsed at the turn of the twentieth century and recolonization from few homogeneous relict populations induced drastic shifts of genetic composition. By contrast, little genetic displacement and steady levels of diversity were maintained in Eastern European regions, where human persecution had lesser effects on wolf demography. By comparing prehistoric, historic and modern patterns of genetic diversity, our study hence traces the timeframe and the active human role in the decline of the grey wolf, an emblematic yet controversial animal which symbolizes the complex relationship between human societies and nature conservation.}, }
@article {pmid30061627, year = {2018}, author = {Lombardo, PA}, title = {The power of heredity and the relevance of eugenic history.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {20}, number = {11}, pages = {1305-1311}, doi = {10.1038/s41436-018-0123-4}, pmid = {30061627}, issn = {1530-0366}, mesh = {Eugenics/*history ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Humans ; }, }
@article {pmid30055809, year = {2018}, author = {Godde, K}, title = {A new analysis interpreting Nilotic relationships and peopling of the Nile Valley.}, journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen}, volume = {69}, number = {4}, pages = {147-157}, doi = {10.1016/j.jchb.2018.07.002}, pmid = {30055809}, issn = {1618-1301}, mesh = {Cephalometry ; Chromosomes, Human, Y ; Egypt ; Ethnic Groups/genetics/*history ; Fossils ; Genetics, Population/history ; History, Ancient ; Humans ; Male ; Political Systems/history ; Population Dynamics/history ; }, abstract = {The process of the peopling of the Nile Valley likely shaped the population structure and early biological similarity of Egyptians and Nubians. As others have noted, affinity among Nilotic populations was due to an aggregation of events, including environmental, linguistic, and sociopolitical changes over a great deal of time. This study seeks to evaluate the relationships of Nubian and Egyptian groups in the context of the original peopling event. Cranial nonmetric traits from 18 Nubian and Egyptian samples, spanning Lower Egypt to Lower Nubia and approximately 7400 years, were analyzed using Mahalanobis D2 as a measure of biological distance. A principal coordinates analysis and spatial-temporal model were applied to these data. The results reveal temporal and spatial patterning consistent with documented events in Egyptian and Nubian population history. Moreover, the Mesolithic Nubian sample clustered with later Nubian and Egyptian samples, indicating that events prior to the Mesolithic were important in shaping the later genetic patterning of the Nubian population. Later contact through the establishment of the Egyptian fort at Buhen, Kerma's position as a strategic trade center along the Nile, and Egyptian colonization at Tombos maintained genetic similarity among the populations.}, }
@article {pmid30055084, year = {2018}, author = {Cavalcanti, DP}, title = {Eduardo E. Castilla (1933-2017): El grande TROESMA.}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {8}, pages = {1701-1702}, doi = {10.1002/ajmg.a.38847}, pmid = {30055084}, issn = {1552-4833}, mesh = {Argentina ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; }, }
@article {pmid30055082, year = {2018}, author = {Carey, JC and Hennekam, RCM and Lin, AE and Barr, M}, title = {M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {8}, pages = {1703-1705}, doi = {10.1002/ajmg.a.38845}, pmid = {30055082}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30052801, year = {2018}, author = {Schmidt, C and Hubbard, T}, title = {Scientists on the Spot: Sequencing the human genome to influence patient healthcare.}, journal = {Cardiovascular research}, volume = {114}, number = {9}, pages = {e66-e67}, doi = {10.1093/cvr/cvy133}, pmid = {30052801}, issn = {1755-3245}, mesh = {Genetic Predisposition to Disease ; *Genome, Human ; Genome-Wide Association Study/history ; Genomics/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; Precision Medicine/*history ; Risk Factors ; Whole Genome Sequencing/*history ; }, }
@article {pmid30027861, year = {2018}, author = {Segal, NL}, title = {Symposium in Honor of Irving I. Gottesman (December 29, 1930-June 29, 2016).}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {21}, number = {4}, pages = {281-284}, doi = {10.1017/thg.2018.29}, pmid = {30027861}, issn = {1832-4274}, mesh = {Animals ; Congresses as Topic ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Twin Studies as Topic ; }, abstract = {The June 2016 death of our esteemed colleague, Dr Irving I. Gottesman, was felt as an extreme loss at so many levels by colleagues, students, friends, and family across the globe. Irv's stellar contributions to the field of twin research will continue to be remembered and cited for many years to come. In commemoration of his life and work, I organized a symposium at the 16th meeting of the International Society for Twin Studies, held in Madrid, Spain, November 16-18, 2017. The panelists included mostly former students, as well as colleagues, who presented their scientific research and personal remarks reflecting Irv's profound influence in shaping their lives and careers. A chronology of Irv's academic positions and honors is included in the introduction to this special issue of Twin Research and Human Genetics, followed by brief sketches of the panel participants; their scholarly papers and personal reflections follow.}, }
@article {pmid30026375, year = {2018}, author = {Goldberg-Smith, P}, title = {David M. Ryba: Pushing the Field Forward.}, journal = {Circulation research}, volume = {123}, number = {3}, pages = {318-319}, doi = {10.1161/CIRCRESAHA.118.313597}, pmid = {30026375}, issn = {1524-4571}, mesh = {Cardiovascular Physiological Phenomena ; Education, Professional ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Physiology/*history ; United States ; }, }
@article {pmid30025565, year = {2018}, author = {Tavaré, S and Buzbas, EO}, title = {Introduction to the Paul Joyce special issue.}, journal = {Theoretical population biology}, volume = {122}, number = {}, pages = {1-2}, doi = {10.1016/j.tpb.2018.07.001}, pmid = {30025565}, issn = {1096-0325}, mesh = {Adaptation, Biological/genetics ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; }, }
@article {pmid29927928, year = {2018}, author = {Weinberg, SM and Cornell, R and Leslie, EJ}, title = {Craniofacial genetics: Where have we been and where are we going?.}, journal = {PLoS genetics}, volume = {14}, number = {6}, pages = {e1007438}, pmid = {29927928}, issn = {1553-7404}, mesh = {Animals ; Craniofacial Abnormalities/*genetics ; Genetic Techniques/*trends ; Genetics/history/*trends ; Head/abnormalities/anatomy & histology/*growth & development ; History, 21st Century ; Humans ; Mice ; Models, Animal ; Zebrafish ; }, }
@article {pmid29925256, year = {2018}, author = {Kornfeld, S}, title = {A Lifetime of Adventures in Glycobiology.}, journal = {Annual review of biochemistry}, volume = {87}, number = {}, pages = {1-21}, doi = {10.1146/annurev-biochem-062917-011911}, pmid = {29925256}, issn = {1545-4509}, mesh = {Adaptor Proteins, Vesicular Transport/history/metabolism ; Animals ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mannosephosphates/history/metabolism ; Metabolic Networks and Pathways ; Phosphoric Diester Hydrolases/history/metabolism ; Receptor, IGF Type 2/history/metabolism ; Transferases (Other Substituted Phosphate Groups)/history/metabolism ; United States ; }, abstract = {My initial research experience involved studying how bacteria synthesize nucleotide sugars, the donors for the formation of cell wall polysaccharides. During this time, I became aware that mammalian cells also have a surface coat of sugars and was intrigued as to whether these sugars might be arranged in specific sequences that function as information molecules in biologic processes. Thus began a long journey that has taken me from glycan structural analysis and determination of plant lectin-binding preferences to the biosynthesis of Asn-linked oligosaccharides and the mannose 6-phosphate (Man-6-P) lysosomal enzyme targeting pathway. The Man-6-P system represents an early example of a glycan serving as an information molecule in a fundamental cellular function. The remarkable advances in the field of glycobiology since I entered have uncovered scores of additional examples of oligosaccharide-lectin interactions mediating critical biologic processes. It has been a rewarding experience to participate in the efforts that have established a central role for glycans in biology.}, }
@article {pmid29867264, year = {2018}, author = {Morrison, PJ}, title = {Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.}, journal = {The Ulster medical journal}, volume = {87}, number = {2}, pages = {102-108}, pmid = {29867264}, issn = {2046-4207}, mesh = {Acromegaly/genetics/history ; Biological Evolution ; Breast Neoplasms/diagnostic imaging/genetics/*history ; Early Detection of Cancer/history ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Homosexuality, Male/genetics ; Humans ; Male ; Mammography/history ; Northern Ireland ; Parkinson Disease/genetics ; }, }
@article {pmid29857002, year = {2018}, author = {Brownlee, GG}, title = {The Legacy of Fred Sanger-100 Years on from 1918.}, journal = {Journal of molecular biology}, volume = {430}, number = {17}, pages = {2661-2669}, doi = {10.1016/j.jmb.2018.05.034}, pmid = {29857002}, issn = {1089-8638}, mesh = {Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Insulin/*chemistry/*history ; Sequence Analysis/*history/methods ; }, }
@article {pmid29847176, year = {2018}, author = {Pederson, T}, title = {James Watson at 90.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {32}, number = {6}, pages = {2901-2902}, doi = {10.1096/fj.180601ufm}, pmid = {29847176}, issn = {1530-6860}, mesh = {DNA/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; Portraits as Topic ; }, }
@article {pmid29777837, year = {2018}, author = {Kropinski, AM}, title = {Bacteriophage research - What we have learnt and what still needs to be addressed.}, journal = {Research in microbiology}, volume = {169}, number = {9}, pages = {481-487}, doi = {10.1016/j.resmic.2018.05.002}, pmid = {29777837}, issn = {1769-7123}, mesh = {Anti-Bacterial Agents/administration & dosage/adverse effects/history ; *Bacteriophages/classification ; Classification ; Computational Biology/history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Phage Therapy/history ; Research/*history ; Research Design ; }, abstract = {Research on bacteriophages has significantly enhanced our understanding of molecular biology, the genomes of prokaryotic cells, and viral ecology. Phages and lysins offer a viable alternative to the declining utility of antibiotics in this post-antibiotic era. They also provide ideal teaching tools for genomics and bioinformatics. This article touches on the first 100 years of phage research with the author commenting on what he thinks are the highlights, and what needs to be addressed.}, }
@article {pmid29769227, year = {2018}, author = {Jan, LY and Jan, YN}, title = {Influences: Cold Spring Harbor summer courses and Drosophila melanogaster neurogenetics.}, journal = {The Journal of general physiology}, volume = {150}, number = {6}, pages = {773-775}, pmid = {29769227}, issn = {1540-7748}, mesh = {Animals ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; Potassium Channels/genetics/metabolism ; Taiwan ; United States ; }, }
@article {pmid29722874, year = {2018}, author = {Nguyen, NTT and Contreras-Moreira, B and Castro-Mondragon, JA and Santana-Garcia, W and Ossio, R and Robles-Espinoza, CD and Bahin, M and Collombet, S and Vincens, P and Thieffry, D and van Helden, J and Medina-Rivera, A and Thomas-Chollier, M}, title = {RSAT 2018: regulatory sequence analysis tools 20th anniversary.}, journal = {Nucleic acids research}, volume = {46}, number = {W1}, pages = {W209-W214}, pmid = {29722874}, issn = {1362-4962}, support = {204562/Z/16/Z//Wellcome Trust/United Kingdom ; }, mesh = {Genetic Variation ; Genomics/history ; High-Throughput Nucleotide Sequencing/history ; History, 20th Century ; History, 21st Century ; Internet ; Nucleotide Motifs ; *Regulatory Sequences, Nucleic Acid ; *Software/history ; }, abstract = {RSAT (Regulatory Sequence Analysis Tools) is a suite of modular tools for the detection and the analysis of cis-regulatory elements in genome sequences. Its main applications are (i) motif discovery, including from genome-wide datasets like ChIP-seq/ATAC-seq, (ii) motif scanning, (iii) motif analysis (quality assessment, comparisons and clustering), (iv) analysis of regulatory variations, (v) comparative genomics. Six public servers jointly support 10 000 genomes from all kingdoms. Six novel or refactored programs have been added since the 2015 NAR Web Software Issue, including updated programs to analyse regulatory variants (retrieve-variation-seq, variation-scan, convert-variations), along with tools to extract sequences from a list of coordinates (retrieve-seq-bed), to select motifs from motif collections (retrieve-matrix), and to extract orthologs based on Ensembl Compara (get-orthologs-compara). Three use cases illustrate the integration of new and refactored tools to the suite. This Anniversary update gives a 20-year perspective on the software suite. RSAT is well-documented and available through Web sites, SOAP/WSDL (Simple Object Access Protocol/Web Services Description Language) web services, virtual machines and stand-alone programs at http://www.rsat.eu/.}, }
@article {pmid29717434, year = {2018}, author = {Karlin-Neumann, G and Bizouarn, F}, title = {Entering the Pantheon of 21st Century Molecular Biology Tools: A Perspective on Digital PCR.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1768}, number = {}, pages = {3-10}, doi = {10.1007/978-1-4939-7778-9_1}, pmid = {29717434}, issn = {1940-6029}, mesh = {Biomarkers, Tumor/genetics/*isolation & purification ; Biomedical Research/history/instrumentation/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*methods ; Neoplasms/*diagnosis/genetics ; Nucleic Acids/genetics/isolation & purification ; Pathology, Molecular/history/instrumentation/methods ; Polymerase Chain Reaction/history/instrumentation/*methods ; }, abstract = {After several decades of relatively modest use, in the last several years digital PCR (dPCR) has grown to become the new gold standard for nucleic acid quantification. This coincides with the commercial availability of scalable, affordable, and reproducible droplet-based dPCR platforms in the past five years and has led to its rapid dissemination into diverse research fields and testing applications. Among these, it has been adopted most vigorously into clinical oncology where it is beginning to be used for plasma genotyping in cancer patients undergoing treatment. Additionally, innovation across the scientific community has extended the benefits of reaction partitioning beyond DNA and RNA quantification alone, and demonstrated its usefulness in evaluating DNA size and integrity, the physical linkage of colocalized markers, levels of enzyme activity and specific cation concentrations in a sample, and more. As dPCR technology gains in popularity and breadth, its power and simplicity can often be taken for granted; thus, the reader is reminded that due diligence must be exercised in order to make claims not only of precision but also of accuracy in their measurements.}, }
@article {pmid29696759, year = {2018}, author = {Opitz, JM}, title = {Arno G. Motulsky, 1923-2018, Luck and Service.}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {6}, pages = {1285-1288}, doi = {10.1002/ajmg.a.38702}, pmid = {29696759}, issn = {1552-4833}, mesh = {Genetics, Medical/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid29691669, year = {2018}, author = {Frezza, G and Capocci, M}, title = {Thomas Hunt Morgan and the invisible gene: the right tool for the job.}, journal = {History and philosophy of the life sciences}, volume = {40}, number = {2}, pages = {31}, doi = {10.1007/s40656-018-0196-z}, pmid = {29691669}, issn = {0391-9714}, support = {Futuro in Ricerca 2010-RBFR10Q67A_002//MIUR - Italian Government/ ; }, mesh = {Embryology/*history ; *Genes ; Genetics/*history ; *Heredity ; Historiography ; History, 20th Century ; Models, Genetic ; }, abstract = {The paper analyzes the early theory building process of Thomas Hunt Morgan (1866-1945) from the 1910s to the 1930s and the introduction of the invisible gene as a main explanatory unit of heredity. Morgan's work marks the transition between two different styles of thought. In the early 1900s, he shifted from an embryological study of the development of the organism to a study of the mechanism of genetic inheritance and gene action. According to his contemporaries as well as to historiography, Morgan separated genetics from embryology, and the gene from the whole organism. Other scholars identified an underlying embryological focus in Morgan's work throughout his career. Our paper aims to clarify the debate by concentrating on Morgan's theory building-characterized by his confidence in the power of experimental methods, and carefully avoiding any ontological commitment towards the gene-and on the continuity of the questions to be addressed by both embryology and genetics.}, }
@article {pmid29688283, year = {2018}, author = {Schunkert, H and Samani, NJ}, title = {Into the great wide open: 10 years of genome-wide association studies.}, journal = {Cardiovascular research}, volume = {114}, number = {9}, pages = {1189-1191}, doi = {10.1093/cvr/cvy100}, pmid = {29688283}, issn = {1755-3245}, support = {//British Heart Foundation/United Kingdom ; //Department of Health/United Kingdom ; }, mesh = {Cardiovascular Diseases/diagnosis/*genetics/history/therapy ; Diffusion of Innovation ; Forecasting ; Genetic Predisposition to Disease ; *Genome, Human ; *Genome-Wide Association Study/history/trends ; Genomics/*history ; History, 21st Century ; Humans ; Phenotype ; Risk Factors ; }, }
@article {pmid29688222, year = {2018}, author = {Jarvik, GP}, title = {Arno G. Motulsky, MD (1923-2018): Holocaust survivor who cofounded the field of medical genetics.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {20}, number = {5}, pages = {477-479}, pmid = {29688222}, issn = {1530-0366}, mesh = {*Famous Persons ; France ; *Genetics, Medical/history ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid29686077, year = {2018}, author = {Doctrow, B}, title = {QnAs with Howard Y. Chang.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {19}, pages = {4805-4806}, pmid = {29686077}, issn = {1091-6490}, mesh = {Animals ; *Awards and Prizes ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; *RNA, Long Noncoding ; }, }
@article {pmid29685971, year = {2018}, author = {Ganesan, A}, title = {Epigenetics: the first 25 centuries.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {373}, number = {1748}, pages = {}, pmid = {29685971}, issn = {1471-2970}, mesh = {Animals ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; History, Ancient ; Humans ; Plants/genetics ; }, abstract = {Epigenetics is a natural progression of genetics as it aims to understand how genes and other heritable elements are regulated in eukaryotic organisms. The history of epigenetics is briefly reviewed, together with the key issues in the field today. This themed issue brings together a diverse collection of interdisciplinary reviews and research articles that showcase the tremendous recent advances in epigenetic chemical biology and translational research into epigenetic drug discovery.This article is part of a discussion meeting issue 'Frontiers in epigenetic chemical biology'.}, }
@article {pmid29668468, year = {2017}, author = {Pejchinovski, M and Mischak, H}, title = {Clinical Proteomics in Kidney Disease: From Discovery to Clinical Application.}, journal = {Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)}, volume = {38}, number = {3}, pages = {39-54}, doi = {10.2478/prilozi-2018-0005}, pmid = {29668468}, issn = {1857-9345}, mesh = {Animals ; Biomarkers/metabolism ; Clinical Decision-Making ; History, 20th Century ; History, 21st Century ; Humans ; Kidney/*metabolism/physiopathology ; *Nephrology/history/trends ; Patient Selection ; Predictive Value of Tests ; Prognosis ; Proteins/*metabolism ; *Proteomics/history/trends ; Renal Insufficiency, Chronic/diagnosis/*metabolism/physiopathology/therapy ; }, abstract = {Proteome analysis has been applied in multiple studies in the context of chronic kidney disease, aiming at improving our knowledge on the molecular pathophysiology of the disease. The approach is generally based on the hypothesis that proteins are key in maintaining kidney function, and disease is a clinical consequence of a significant change of the protein level. Knowledge on critical proteins and their alteration in disease should in turn enable identification of ideal biomarkers that could guide patient management. In addition, all drugs currently employed target proteins. Hence, proteome analysis also promises to enable identifying the best suited therapeutic target, and, in combination with biomarkers, could be used as the rationale basis for personalized intervention. To assess the current status of proteome analysis in the context of CKD, we present the results of a systematic review, of up-to-date scientific research, and give an outlook on the developments that can be expected in near future. Based on the current literature, proteome analysis has already seen implementation in the management of CKD patients, and it is expected that this approach, also supported by the positive results generated to date, will see advanced high-throughput application.}, }
@article {pmid29663716, year = {2018}, author = {Elloumi-Zghal, H and Chaabouni Bouhamed, H}, title = {Genetics and genomic medicine in Tunisia.}, journal = {Molecular genetics & genomic medicine}, volume = {6}, number = {2}, pages = {134-159}, pmid = {29663716}, issn = {2324-9269}, mesh = {Delivery of Health Care/trends ; Genetics/history/*trends ; Genomics/history/*trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Medicine/trends ; Tunisia/epidemiology ; }, }
@article {pmid29663715, year = {2018}, author = {Leppig, KA}, title = {Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.}, journal = {Molecular genetics & genomic medicine}, volume = {6}, number = {2}, pages = {129-133}, pmid = {29663715}, issn = {2324-9269}, mesh = {Education ; Genetics/education/history ; Genetics, Medical/*trends ; History, 20th Century ; Humans ; International Cooperation/history ; Intersectoral Collaboration ; Social Behavior ; United States ; Vietnam ; }, }
@article {pmid29650627, year = {2018}, author = {Williams, R}, title = {Rajat Gupta: A Scientist in Doctor's Clothing.}, journal = {Circulation research}, volume = {122}, number = {8}, pages = {1044-1045}, doi = {10.1161/CIRCRESAHA.118.313077}, pmid = {29650627}, issn = {1524-4571}, mesh = {Boston ; Cardiology/*history ; Coronary Disease/genetics/history ; Cytokines/history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Michigan ; }, }
@article {pmid29636542, year = {2018}, author = {La Gruta, NL and Gras, S and Daley, SR and Thomas, PG and Rossjohn, J}, title = {Understanding the drivers of MHC restriction of T cell receptors.}, journal = {Nature reviews. Immunology}, volume = {18}, number = {7}, pages = {467-478}, doi = {10.1038/s41577-018-0007-5}, pmid = {29636542}, issn = {1474-1741}, mesh = {Animals ; Antibody Diversity ; Evolution, Molecular ; Histocompatibility Antigens Class I/chemistry/genetics ; Histocompatibility Antigens Class II/chemistry/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/history ; *Major Histocompatibility Complex ; Models, Genetic ; Models, Immunological ; Models, Molecular ; Receptors, Antigen, T-Cell/chemistry/*genetics/*immunology ; Signal Transduction/genetics/immunology ; Systems Biology ; T-Lymphocytes/immunology ; }, abstract = {T cell discrimination of self and non-self is predicated on αβ T cell receptor (TCR) co-recognition of peptides presented by MHC molecules. Over the past 20 years, structurally focused investigations into this MHC-restricted response have provided profound insights into T cell function. Simultaneously, two models of TCR recognition have emerged, centred on whether the TCR has, through evolution, acquired an intrinsic germline-encoded capacity for MHC recognition or whether MHC reactivity is conferred by developmental selection of TCRs. Here, we review the structural and functional data that pertain to these theories of TCR recognition, which indicate that it will be necessary to assimilate features of both models to fully account for the molecular drivers of this evolutionarily ancient interaction between the TCR and MHC molecules.}, }
@article {pmid29614285, year = {2018}, author = {Goldstein, B}, title = {On Francis Crick, the genetic code, and a clever kid.}, journal = {Current biology : CB}, volume = {28}, number = {7}, pages = {R305}, doi = {10.1016/j.cub.2018.02.058}, pmid = {29614285}, issn = {1879-0445}, mesh = {Evolution, Molecular ; Genes/*physiology ; *Genetic Code ; History, 20th Century ; Humans ; Models, Biological ; Molecular Biology/*history ; }, abstract = {A few years ago, Francis Crick's son told me a story that I can't get out of my mind. I had contacted Michael Crick by email while digging through the background of the researchers who had cracked the genetic code in the 1960s. Francis had died in 2004, and I was contacting some of the people who knew him when he was struggling to decipher the code. Francis didn't appear to struggle often - he is known mostly for his successes - and, as it turns out, this one well-known struggle may have had a clue sitting just barely out of sight.}, }
@article {pmid29599274, year = {2018}, author = {Sadayappan, S}, title = {My Life, My Heart, and My(osin) Binding Protein-C.}, journal = {Circulation research}, volume = {122}, number = {7}, pages = {918-920}, pmid = {29599274}, issn = {1524-4571}, support = {K02 HL114749/HL/NHLBI NIH HHS/United States ; R01 HL105826/HL/NHLBI NIH HHS/United States ; R01 HL130356/HL/NHLBI NIH HHS/United States ; }, mesh = {Cardiology/*history ; Carrier Proteins/metabolism ; History, 20th Century ; History, 21st Century ; India ; Molecular Biology/*history ; Myocardium/metabolism ; United States ; }, }
@article {pmid29598980, year = {2018}, author = {Romero, R}, title = {A Profile of Dennis Lo, DM, DPhil, FRCP, FRCPath, FRS.}, journal = {American journal of obstetrics and gynecology}, volume = {218}, number = {4}, pages = {371-378}, pmid = {29598980}, issn = {1097-6868}, support = {Z99 HD999999//Intramural NIH HHS/United States ; }, mesh = {Cell-Free Nucleic Acids/blood ; Chromosome Aberrations ; DNA/blood ; Female ; Genetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Hong Kong ; Humans ; Neoplasms/*diagnosis ; Pregnancy/blood ; Prenatal Diagnosis/*history ; Sequence Analysis, DNA ; }, }
@article {pmid29596172, year = {2018}, author = {Goulet, O and Phillips, A}, title = {Chapter 5.2.2. From the Syndrome of Intractable Diarrhoea of Infancy to Molecular Analysis and Cell Biology: 50 Years of Evolution.}, journal = {Journal of pediatric gastroenterology and nutrition}, volume = {66 Suppl 1}, number = {}, pages = {S77-S81}, doi = {10.1097/MPG.0000000000001915}, pmid = {29596172}, issn = {1536-4801}, mesh = {Anniversaries and Special Events ; Cell Biology/*history ; Child Nutrition Sciences/*history/organization & administration ; Diarrhea/*history ; Europe ; Gastroenterology/*history/organization & administration ; History, 20th Century ; History, 21st Century ; Humans ; Infant ; Molecular Medicine/*history ; Pediatrics/*history/organization & administration ; Societies, Medical/history ; Syndrome ; }, }
@article {pmid29575103, year = {2018}, author = {Hill, WG}, title = {Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {2}, pages = {93-94}, doi = {10.1111/jbg.12320}, pmid = {29575103}, issn = {1439-0388}, mesh = {Algorithms ; Animals ; Biological Evolution ; Genetic Speciation ; Genetics/*history ; History, 19th Century ; Humans ; *Models, Genetic ; Models, Statistical ; }, }
@article {pmid29574847, year = {2018}, author = {Weiss, KM}, title = {The tales genes tell (or not): A century of exploration.}, journal = {American journal of physical anthropology}, volume = {165}, number = {4}, pages = {741-753}, doi = {10.1002/ajpa.23333}, pmid = {29574847}, issn = {1096-8644}, mesh = {Animals ; Anthropology, Physical/*history ; *Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Biological ; Primates ; }, }
@article {pmid29574830, year = {2018}, author = {Szathmáry, EJE and Zegura, SL and Hammer, MF}, title = {Exceeding Hrdlička's aims: 100 Years of genetics in anthropology.}, journal = {American journal of physical anthropology}, volume = {165}, number = {4}, pages = {754-776}, doi = {10.1002/ajpa.23406}, pmid = {29574830}, issn = {1096-8644}, mesh = {Americas ; *Anthropology, Physical/history/organization & administration ; Evolution, Molecular ; Gene Flow ; Genetic Markers ; Genetic Research/history ; Genetics, Population/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid29540437, year = {2018}, author = {Ferguson-Smith, AC and Bartolomei, MS}, title = {Obituary: Denise Barlow (1950-2017).}, journal = {Development (Cambridge, England)}, volume = {145}, number = {5}, pages = {}, doi = {10.1242/dev.164616}, pmid = {29540437}, issn = {1477-9129}, mesh = {Animals ; Austria ; Developmental Biology/*history ; Epigenesis, Genetic ; Epigenomics/*history ; Genomic Imprinting/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; *Laboratory Personnel/history ; United Kingdom ; }, abstract = {Anne Ferguson-Smith and Marisa Bartolomei look back at the life and science of Denise Barlow, a pioneer in genomic imprinting and epigenetics.}, }
@article {pmid29538439, year = {2018}, author = {Rusu, I and Modi, A and Vai, S and Pilli, E and Mircea, C and Radu, C and Urduzia, C and Pinter, ZK and Bodolică, V and Dobrinescu, C and Hervella, M and Popescu, O and Lari, M and Caramelli, D and Kelemen, B}, title = {Maternal DNA lineages at the gate of Europe in the 10th century AD.}, journal = {PloS one}, volume = {13}, number = {3}, pages = {e0193578}, pmid = {29538439}, issn = {1932-6203}, mesh = {Archaeology ; Bone and Bones/metabolism ; DNA, Mitochondrial/classification/genetics/isolation & purification/*metabolism ; European Continental Ancestry Group/*genetics ; Genetics, Population/history ; Haplotypes ; High-Throughput Nucleotide Sequencing ; History, Medieval ; Humans ; Phylogeny ; Principal Component Analysis ; Romania ; Sequence Analysis, DNA ; }, abstract = {Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We successfully amplified and typed the mitochondrial control region of 10 individuals. For five of them, we also reconstructed the complete mitochondrial genomes using hybridization-based DNA capture combined with Next Generation Sequencing. We have portrayed the genetic structure of the Capidava medieval population, represented by 10 individuals displaying 8 haplotypes (U5a1c2a, V1a, R0a2'3, H1, U3a, N9a9, H5e1a1, and H13a1a3). Remarkable for this site is the presence of both Central Asiatic (N9a) and common European mtDNA haplotypes, establishing Capidava as a point of convergence between East and West. The distribution of mtDNA lineages in the necropolis highlighted the existence of two groups of two individuals with close maternal relationships as they share the same haplotypes. We also sketch, using comparative statistical and population genetic analyses, the genetic relationships between the investigated dataset and other medieval and modern Eurasian populations.}, }
@article {pmid29535460, year = {2018}, author = {Charney, AW}, title = {Pamela Sklar.}, journal = {Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology}, volume = {43}, number = {5}, pages = {1191-1192}, doi = {10.1038/npp.2018.1}, pmid = {29535460}, issn = {1740-634X}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Psychiatry/*history ; United States ; }, }
@article {pmid29526494, year = {2018}, author = {Jones, ED}, title = {Ancient DNA: a history of the science before Jurassic Park.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {68-69}, number = {}, pages = {1-14}, doi = {10.1016/j.shpsc.2018.02.001}, pmid = {29526494}, issn = {1879-2499}, mesh = {Animals ; *DNA, Ancient ; Extinction, Biological ; *Fossils ; Genetics/*history ; History, 20th Century ; Invertebrates/genetics ; Plants/genetics ; Vertebrates/genetics ; }, }
@article {pmid29523692, year = {2018}, author = {von Heijne, G}, title = {Membrane protein serendipity.}, journal = {The Journal of biological chemistry}, volume = {293}, number = {10}, pages = {3470-3476}, pmid = {29523692}, issn = {1083-351X}, mesh = {Animals ; Chemical Engineering/*history ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Lipid Bilayers/chemistry/metabolism ; Membrane Proteins/chemistry/genetics/*history/metabolism ; *Models, Molecular ; Molecular Biology/*history ; New York City ; Physics/*history ; Protein Folding ; Protein Sorting Signals ; Signal Transduction ; Sweden ; }, abstract = {My scientific career has taken me from chemistry, via theoretical physics and bioinformatics, to molecular biology and even structural biology. Along the way, serendipity led me to work on problems such as the identification of signal peptides that direct protein trafficking, membrane protein biogenesis, and cotranslational protein folding. I've had some great collaborations that came about because of a stray conversation or from following up on an interesting paper. And I've had the good fortune to be asked to sit on the Nobel Committee for Chemistry, where I am constantly reminded of the amazing pace and often intricate history of scientific discovery. Could I have planned this? No way! I just went with the flow ….}, }
@article {pmid29512888, year = {2018}, author = {Stoll, K and Kubendran, S and Cohen, SA}, title = {The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {178}, number = {1}, pages = {24-37}, doi = {10.1002/ajmg.c.31602}, pmid = {29512888}, issn = {1552-4876}, mesh = {*Counselors ; Genetic Counseling/history/*methods/trends ; Genetics, Medical ; Health Workforce ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics ; Precision Medicine ; Referral and Consultation ; }, abstract = {Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.}, }
@article {pmid29499160, year = {2018}, author = {Brunner, HG}, title = {2017 Curt Stern Award Introduction: Nico Katsanis.}, journal = {American journal of human genetics}, volume = {102}, number = {3}, pages = {354}, doi = {10.1016/j.ajhg.2018.01.013}, pmid = {29499160}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid29499157, year = {2018}, author = {Cox, NJ}, title = {2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.}, journal = {American journal of human genetics}, volume = {102}, number = {3}, pages = {342-349}, pmid = {29499157}, issn = {1537-6605}, mesh = {*Biographies as Topic ; *Cultural Diversity ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Women ; }, }
@article {pmid29489010, year = {2018}, author = {Papatriantafyllou, M}, title = {Centre for Genomic Regulation - a hub for Integrative Biology in Barcelona.}, journal = {FEBS letters}, volume = {592}, number = {6}, pages = {833-837}, doi = {10.1002/1873-3468.13020}, pmid = {29489010}, issn = {1873-3468}, mesh = {Genomics/history/*methods/*organization & administration ; History, 21st Century ; Humans ; Portraits as Topic ; Spain ; }, }
@article {pmid29487143, year = {2018}, author = {Salzano, FM}, title = {The Evolution of Science in a Latin-American Country: Genetics and Genomics in Brazil.}, journal = {Genetics}, volume = {208}, number = {3}, pages = {823-832}, pmid = {29487143}, issn = {1943-2631}, mesh = {Brazil ; *Genetics/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Science/history ; }, abstract = {This article begins with a brief overview of the history of Brazil and that of Brazilian science, from the European discovery of the country in 1500 up to the early 21st century. The history of the fields of genetics and genomics, from the 1930s, is then first examined from the focal point of the lives and publications of the three persons who are generally considered to be the founders of genetics in Brazil (C. A. Krug, F. G. Brieger, and A. Dreyfus), and then by 12 other researchers up to 1999. The area of molecular genetics and genomics from 2000 to present is then described. Despite the problems of underdevelopment and the periodical political and economic crises that have affected life in Brazil, the fields of genetics and genomics in Brazil can be regarded as having developed at an appropriate pace, and have contributed in several major ways to world science.}, }
@article {pmid29483247, year = {2018}, author = {Palkopoulou, E and Lipson, M and Mallick, S and Nielsen, S and Rohland, N and Baleka, S and Karpinski, E and Ivancevic, AM and To, TH and Kortschak, RD and Raison, JM and Qu, Z and Chin, TJ and Alt, KW and Claesson, S and Dalén, L and MacPhee, RDE and Meller, H and Roca, AL and Ryder, OA and Heiman, D and Young, S and Breen, M and Williams, C and Aken, BL and Ruffier, M and Karlsson, E and Johnson, J and Di Palma, F and Alfoldi, J and Adelson, DL and Mailund, T and Munch, K and Lindblad-Toh, K and Hofreiter, M and Poinar, H and Reich, D}, title = {A comprehensive genomic history of extinct and living elephants.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {11}, pages = {E2566-E2574}, pmid = {29483247}, issn = {1091-6490}, support = {//Wellcome Trust/United Kingdom ; R01 GM100233/GM/NIGMS NIH HHS/United States ; U54 HG003067/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; WT098051//Wellcome Trust/United Kingdom ; WT108749/Z/15/Z//Wellcome Trust/United Kingdom ; }, mesh = {Animals ; Elephants/classification/*genetics ; Evolution, Molecular ; Extinction, Biological ; Fossils ; Gene Flow ; Genome ; Genomics/history ; History, Ancient ; Mammoths/classification/*genetics ; Mastodons/classification/*genetics ; Phylogeny ; }, abstract = {Elephantids are the world's most iconic megafaunal family, yet there is no comprehensive genomic assessment of their relationships. We report a total of 14 genomes, including 2 from the American mastodon, which is an extinct elephantid relative, and 12 spanning all three extant and three extinct elephantid species including an ∼120,000-y-old straight-tusked elephant, a Columbian mammoth, and woolly mammoths. Earlier genetic studies modeled elephantid evolution via simple bifurcating trees, but here we show that interspecies hybridization has been a recurrent feature of elephantid evolution. We found that the genetic makeup of the straight-tusked elephant, previously placed as a sister group to African forest elephants based on lower coverage data, in fact comprises three major components. Most of the straight-tusked elephant's ancestry derives from a lineage related to the ancestor of African elephants while its remaining ancestry consists of a large contribution from a lineage related to forest elephants and another related to mammoths. Columbian and woolly mammoths also showed evidence of interbreeding, likely following a latitudinal cline across North America. While hybridization events have shaped elephantid history in profound ways, isolation also appears to have played an important role. Our data reveal nearly complete isolation between the ancestors of the African forest and savanna elephants for ∼500,000 y, providing compelling justification for the conservation of forest and savanna elephants as separate species.}, }
@article {pmid29482283, year = {2018}, author = {Viggiano, D and Zacchia, M and Simonelli, F and Di Iorio, V and Anastasio, P and Capasso, G and De Santo, NG}, title = {The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.}, journal = {Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia}, volume = {35}, number = {Suppl 70}, pages = {95-100}, pmid = {29482283}, issn = {1724-5990}, mesh = {Bardet-Biedl Syndrome/complications/genetics/*history ; Genetics, Medical/*history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Diseases/etiology/*history ; }, }
@article {pmid29457551, year = {2018}, author = {Pederson, T}, title = {Alternative Genetics.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {32}, number = {2}, pages = {537-539}, doi = {10.1096/fj.180201ufm}, pmid = {29457551}, issn = {1530-6860}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29445977, year = {2018}, author = {Silva, L}, title = {A Brief History of Biochemical Genetics' 50 Years and a Reflection About Past and Present Research Directions.}, journal = {Biochemical genetics}, volume = {56}, number = {1-2}, pages = {1-6}, doi = {10.1007/s10528-018-9846-9}, pmid = {29445977}, issn = {1573-4927}, mesh = {Biochemistry/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Portraits as Topic ; }, }
@article {pmid29410482, year = {2018}, author = {Stolarek, I and Juras, A and Handschuh, L and Marcinkowska-Swojak, M and Philips, A and Zenczak, M and Dębski, A and Kóčka-Krenz, H and Piontek, J and Kozlowski, P and Figlerowicz, M}, title = {A mosaic genetic structure of the human population living in the South Baltic region during the Iron Age.}, journal = {Scientific reports}, volume = {8}, number = {1}, pages = {2455}, pmid = {29410482}, issn = {2045-2322}, mesh = {Adult ; Cemeteries/history ; DNA, Mitochondrial/classification/*genetics ; Europe ; Female ; *Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, Ancient ; Humans ; Male ; *Pedigree ; }, abstract = {Despite the increase in our knowledge about the factors that shaped the genetic structure of the human population in Europe, the demographic processes that occurred during and after the Early Bronze Age (EBA) in Central-East Europe remain unclear. To fill the gap, we isolated and sequenced DNAs of 60 individuals from Kowalewko, a bi-ritual cemetery of the Iron Age (IA) Wielbark culture, located between the Oder and Vistula rivers (Kow-OVIA population). The collected data revealed high genetic diversity of Kow-OVIA, suggesting that it was not a small isolated population. Analyses of mtDNA haplogroup frequencies and genetic distances performed for Kow-OVIA and other ancient European populations showed that Kow-OVIA was most closely linked to the Jutland Iron Age (JIA) population. However, the relationship of both populations to the preceding Late Neolithic (LN) and EBA populations were different. We found that this phenomenon is most likely the consequence of the distinct genetic history observed for Kow-OVIA women and men. Females were related to the Early-Middle Neolithic farmers, whereas males were related to JIA and LN Bell Beakers. In general, our findings disclose the mechanisms that could underlie the formation of the local genetic substructures in the South Baltic region during the IA.}, }
@article {pmid29410353, year = {2018}, author = {Rose, JP and Kleist, TJ and Löfstrand, SD and Drew, BT and Schönenberger, J and Sytsma, KJ}, title = {Phylogeny, historical biogeography, and diversification of angiosperm order Ericales suggest ancient Neotropical and East Asian connections.}, journal = {Molecular phylogenetics and evolution}, volume = {122}, number = {}, pages = {59-79}, doi = {10.1016/j.ympev.2018.01.014}, pmid = {29410353}, issn = {1095-9513}, mesh = {Animals ; *Biodiversity ; Chloroplasts/genetics ; Far East ; Fossils/history ; Genetic Speciation ; History, Ancient ; Magnoliopsida/*classification/genetics ; Mitochondria/genetics ; *Phylogeny ; Phylogeography/history ; Ribosomes/genetics ; }, abstract = {Inferring interfamilial relationships within the eudicot order Ericales has remained one of the more recalcitrant problems in angiosperm phylogenetics, likely due to a rapid, ancient radiation. As a result, no comprehensive time-calibrated tree or biogeographical analysis of the order has been published. Here, we elucidate phylogenetic relationships within the order and then conduct time-dependent biogeographical and diversification analyses by using a taxon and locus-rich supermatrix approach on one-third of the extant species diversity calibrated with 23 macrofossils and two secondary calibration points. Our results corroborate previous studies and also suggest several new but poorly supported relationships. Newly suggested relationships are: (1) holoparasitic Mitrastemonaceae is sister to Lecythidaceae, (2) the clade formed by Mitrastemonaceae + Lecythidaceae is sister to Ericales excluding balsaminoids, (3) Theaceae is sister to the styracoids + sarracenioids + ericoids, and (4) subfamilial relationships with Ericaceae suggest that Arbutoideae is sister to Monotropoideae and Pyroloideae is sister to all subfamilies excluding Arbutoideae, Enkianthoideae, and Monotropoideae. Our results indicate Ericales began to diversify 110 Mya, within Indo-Malaysia and the Neotropics, with exchange between the two areas and expansion out of Indo-Malaysia becoming an important area in shaping the extant diversity of many families. Rapid cladogenesis occurred along the backbone of the order between 104 and 106 Mya. Jump dispersal is important within the order in the last 30 My, but vicariance is the most important cladogenetic driver of disjunctions at deeper levels of the phylogeny. We detect between 69 and 81 shifts in speciation rate throughout the order, the vast majority of which occurred within the last 30 My. We propose that range shifting may be responsible for older shifts in speciation rate, but more recent shifts may be better explained by morphological innovation.}, }
@article {pmid29389452, year = {2018}, author = {Biesecker, BB and Biesecker, LG}, title = {50 Years Ago in The Journal of Pediatrics: The Rationale for Genetic Counseling.}, journal = {The Journal of pediatrics}, volume = {193}, number = {}, pages = {33}, doi = {10.1016/j.jpeds.2017.12.037}, pmid = {29389452}, issn = {1097-6833}, mesh = {Child ; Genetic Counseling/*history ; Genetic Testing/*history ; History, 20th Century ; Humans ; Pediatrics/*history ; }, }
@article {pmid29382488, year = {2017}, author = {Encarnación-Guevara, S}, title = {The dawn and the first twenty-five years of proteomics in Mexico: a personal chronicle.}, journal = {Boletin medico del Hospital Infantil de Mexico}, volume = {74}, number = {3}, pages = {208-211}, doi = {10.1016/j.bmhimx.2017.03.006}, pmid = {29382488}, issn = {1665-1146}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Laboratories/*history ; Mexico ; Proteomics/*history ; Research/*history ; }, abstract = {This review does not aim to be an up-to-date of proteomics in Mexico; it simply tries to trace its development, exposing the story of the researchers, laboratories and some institutions that have contributed to the establishment and development of this science in Mexico.}, }
@article {pmid29375137, year = {2018}, author = {Ajito, K}, title = {Professor KC Nicolaou expanded the world of synthetic organic chemistry by total synthesis and his laboratories have fostered many talented researchers.}, journal = {The Journal of antibiotics}, volume = {71}, number = {2}, pages = {151-152}, pmid = {29375137}, issn = {1881-1469}, mesh = {Antineoplastic Agents/chemical synthesis/pharmacology ; Chemistry, Pharmaceutical/*education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*education/*history ; *Research Personnel ; }, }
@article {pmid29375134, year = {2018}, author = {Winssinger, N}, title = {Biography of Professor Nicolaou: a journey to the extremes of molecular complexity.}, journal = {The Journal of antibiotics}, volume = {71}, number = {2}, pages = {149-150}, doi = {10.1038/ja.2017.144}, pmid = {29375134}, issn = {1881-1469}, mesh = {Antineoplastic Agents/chemical synthesis/pharmacology ; Chemistry, Pharmaceutical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid29363900, year = {2017}, author = {Pluta, D and Tokarski, M and Karpiewska, A and Dobosz, T}, title = {15th Anniversary of the Molecular Techniques Unit at the Department of Forensic Medicine at Wroclaw Medical University.}, journal = {Archiwum medycyny sadowej i kryminologii}, volume = {67}, number = {2}, pages = {142-149}, doi = {10.5114/amsik.2017.71455}, pmid = {29363900}, issn = {0324-8267}, mesh = {*Anniversaries and Special Events ; Forensic Medicine/*history ; History, 21st Century ; Humans ; Molecular Biology/*history ; Pathology, Clinical/history ; Poland ; Societies, Scientific/history ; Universities/*history ; }, abstract = {Molecular Techniques Unit at the Department of Forensic Medicine, Wroclaw Medical University has been operating since December 2003. Soon it will be 15 years since its establishment. This anniversary become an inspiration to write down the story of this institution whose origins illustrate the immense changes that have taken place in forensic genetics. The aim of our work was also to consolidate the professional achievements of Professor Tadeusz Dobosz, chief of the Unit, one of the pioneers of introducing DNA testing technology into Polish forensic medicine. The most important achievements of the Unit include participation in two EU research projects, the development of a non-destructive method of extraction of genetic material, research in field of gene therapy and certification of the Laboratory of the Molecular Techniques Unit by the Polish Accreditation Center (PCA) confirming compliance with the requirements of the PN-EN ISO/IEC 17025:2005 standard.}, }
@article {pmid29358548, year = {2017}, author = {Singh, J}, title = {Amar Klar: A giant among scientists (1947-2017).}, journal = {Journal of biosciences}, volume = {42}, number = {3}, pages = {355-357}, pmid = {29358548}, issn = {0973-7138}, mesh = {Biochemistry ; DNA/physiology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid29345074, year = {2018}, author = {James, JW}, title = {A century later.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {1}, pages = {1-2}, doi = {10.1111/jbg.12309}, pmid = {29345074}, issn = {1439-0388}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Statistical ; *Selection, Genetic ; }, }
@article {pmid29339467, year = {2018}, author = {Ravindran, S}, title = {Profile of Scott W. Lowe.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {4}, pages = {630-632}, pmid = {29339467}, issn = {1091-6490}, mesh = {Genes, Neoplasm ; Genes, p53 ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*history/methods ; Oncogenes ; }, }
@article {pmid29324038, year = {2018}, author = {Willis, JH}, title = {The Evolution and Metamorphosis of Arthropod Proteomics and Genomics.}, journal = {Annual review of entomology}, volume = {63}, number = {}, pages = {1-13}, doi = {10.1146/annurev-ento-020117-043447}, pmid = {29324038}, issn = {1545-4487}, support = {S10 OD018164/OD/NIH HHS/United States ; R01 AI055624/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Entomology/*history ; History, 20th Century ; History, 21st Century ; Insect Proteins/*analysis/genetics/metabolism ; Insecta/genetics/*metabolism ; *Metamorphosis, Biological ; Proteomics/*history ; }, abstract = {This article presents an overview of the development of techniques for analyzing cuticular proteins (CPs), their transcripts, and their genes over the past 50 years based primarily on experience in the laboratory of J.H. Willis. It emphasizes changes in the kind of data that can be gathered and how such data provided insights into the molecular underpinnings of insect metamorphosis and cuticle structure. It describes the techniques that allowed visualization of the location of CPs at both the anatomical and intracuticular levels and measurement of the appearance and deployment of transcripts from CP genes as well as what was learned from genomic and transcriptomic data. Most of the early work was done with the cecropia silkmoth, Hyalophora cecropia, and later work was with Anopheles gambiae.}, }
@article {pmid29310539, year = {2017}, author = {Creager, ANH}, title = {A Chemical Reaction to the Historiography of Biology.}, journal = {Ambix}, volume = {64}, number = {4}, pages = {343-359}, doi = {10.1080/00026980.2017.1412136}, pmid = {29310539}, issn = {1745-8234}, mesh = {Biological Evolution ; Biology/*history ; Chemistry/*methods ; Genetics/history ; Historiography ; History, 20th Century ; History, 21st Century ; }, abstract = {This article examines the often-overlooked role of chemical ideas and practices in the history of modern biology. The first section analyses how the conventional histories of the life sciences have, through the twentieth century, come to focus nearly exclusively on evolutionary theory and genetics, and why this storyline is inadequate. The second section elaborates on what the restricted neo-Darwinian history of biology misses, noting a variety of episodes in the history of biology that relied on developments in - or tools from - chemistry, including an example from the author's own work. The diverse ways in which biologists have used chemical approaches often relate to the concrete, infrastructural side of research; a more inclusive history thus also connects to a historiography of materials and objects in science.}, }
@article {pmid29299965, year = {2017}, author = {Taskent, RO and Gokcumen, O}, title = {The Multiple Histories of Western Asia: Perspectives from Ancient and Modern Genomes.}, journal = {Human biology}, volume = {89}, number = {2}, pages = {107-117}, doi = {10.13110/humanbiology.89.2.01}, pmid = {29299965}, issn = {1534-6617}, mesh = {Africa/ethnology ; Anthropology/history ; Archaeology/history ; Asia/ethnology ; Asia, Western/ethnology ; Continental Population Groups/*genetics ; Europe/ethnology ; Genetic Variation/*genetics ; Genomics/*history/trends ; History, 20th Century ; History, 21st Century ; History, Ancient ; Human Migration/history ; Humans ; Sedentary Behavior/ethnology ; }, abstract = {Western Asia lies at the heart of the Old World, in the midst of Africa, Asia, and Europe. As such, this region has been populated and repopulated by myriad peoples, starting with the first migrants from Africa. All evidence points to Western Asia for the beginnings of sedentary life, and indeed, first the villages and later the cities of this land remain as archaeological wonders, revealing complex histories of multiple peoples and their interactions. With the wondrous breakthroughs in genomic studies, we now have the power to look at these histories with a truly quantitative lens. Here, we review the recent anthropological genomics literature pertaining to this region, with an outlook for the future challenges and exciting possibilities for the field.}, }
@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 & histology ; Facial Bones/anatomy & 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 {pmid29297886, year = {2017}, author = {Harper, PS}, title = {Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992-2017).}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S2-S5}, pmid = {29297886}, issn = {1476-5438}, mesh = {Awards and Prizes ; Cloning, Organism/*ethics ; Europe ; History, 20th Century ; History, 21st Century ; Human Experimentation/*ethics ; Human Genetics/*history/trends ; Humans ; Patents as Topic ; Practice Guidelines as Topic ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297885, year = {2017}, author = {Cassiman, JJ}, title = {EuroGentest NoE, the ESHG, and genetic services.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S47-S49}, doi = {10.1038/ejhg.2017.155}, pmid = {29297885}, issn = {1476-5438}, mesh = {Committee Membership ; Databases, Genetic ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/*methods ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297884, year = {2017}, author = {Donnai, D}, title = {Dysmorphology and the ESHG.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S33-S34}, doi = {10.1038/ejhg.2017.161}, pmid = {29297884}, issn = {1476-5438}, mesh = {Congenital Abnormalities/*diagnosis/genetics/history/pathology ; Consensus Development Conferences as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Image Interpretation, Computer-Assisted/*methods ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297883, year = {2017}, author = {Brunner, H}, title = {The annual meeting 1988-2017.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S35-S36}, doi = {10.1038/ejhg.2017.150}, pmid = {29297883}, issn = {1476-5438}, mesh = {*Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Organizational Policy ; *Posters as Topic ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297882, year = {2017}, author = {Pignatti, PF and Ramos, FJ}, title = {Involving the European National Human Genetics Societies.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S39-S42}, doi = {10.1038/ejhg.2017.152}, pmid = {29297882}, issn = {1476-5438}, mesh = {Committee Membership ; *Congresses as Topic ; Europe ; History, 21st Century ; Human Genetics/*history ; Humans ; Societies, Scientific/*history/statistics & numerical data ; Workforce ; }, }
@article {pmid29297881, year = {2017}, author = {Pembrey, M}, title = {The creation of the International Federation of Human Genetics Societies in 1995-1996.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S43-S44}, doi = {10.1038/ejhg.2017.153}, pmid = {29297881}, issn = {1476-5438}, mesh = {Committee Membership ; History, 20th Century ; Human Genetics/*history ; Humans ; *Practice Guidelines as Topic ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; World Health Organization ; }, }
@article {pmid29297880, year = {2017}, author = {Cassiman, JJ}, title = {The growth of the IFHGS after 2000.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S45-S46}, doi = {10.1038/ejhg.2017.154}, pmid = {29297880}, issn = {1476-5438}, mesh = {Committee Membership ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; International Cooperation ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297879, year = {2017}, author = {Aymé, S and Cornel, MC}, title = {The development of the public and professional policy committee.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S29-S32}, doi = {10.1038/ejhg.2017.160}, pmid = {29297879}, issn = {1476-5438}, mesh = {Databases, Nucleic Acid/history/organization & administration ; Europe ; High-Throughput Nucleotide Sequencing/history/instrumentation/methods ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Human Genome Project/history ; Humans ; *Organizational Policy ; *Practice Guidelines as Topic ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297878, year = {2017}, author = {van Ommen, G}, title = {The development and growth of EJHG 1995-2017.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S23-S26}, pmid = {29297878}, issn = {1476-5438}, mesh = {Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Organizational Policy ; Professional Staff Committees/history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297877, year = {2017}, author = {Read, AP}, title = {Read's Recall: Shuffling abstracts - and foundations.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S27-S28}, doi = {10.1038/ejhg.2017.149}, pmid = {29297877}, issn = {1476-5438}, mesh = {Abstracting and Indexing ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Organizational Policy ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297876, year = {2017}, author = {Skirton, H}, title = {The European Board of Medical Genetics: development of a professional registration system in Europe.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S51-S52}, pmid = {29297876}, issn = {1476-5438}, mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/methods ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Specialty Boards/*history/organization & administration ; Workforce ; }, }
@article {pmid29297875, year = {2017}, author = {Kristoffersson, U and Macek, M}, title = {From Mendel to Medical Genetics.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S53-S59}, pmid = {29297875}, issn = {1476-5438}, mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/methods ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Specialty Boards/*history/organization & administration ; Workforce ; }, }
@article {pmid29297874, year = {2017}, author = {Houge, G and Del Picchia, J}, title = {The inner life and structure of ESHG.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S16-S19}, doi = {10.1038/ejhg.2017.144}, pmid = {29297874}, issn = {1476-5438}, mesh = {Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297873, year = {2017}, author = {van Ommen, G and Rice, M}, title = {The ESHG's second quarter century: consolidation and growth-the period covering 1992-2017.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S1}, doi = {10.1038/ejhg.2017.140}, pmid = {29297873}, issn = {1476-5438}, mesh = {Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/trends ; Humans ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297872, year = {2017}, author = {Pembrey, M}, title = {Those wonderful school days in Sestri Levante!.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S13-S15}, doi = {10.1038/ejhg.2017.143}, pmid = {29297872}, issn = {1476-5438}, mesh = {Congresses as Topic ; Europe ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Societies, Scientific/*history ; Workforce ; }, }
@article {pmid29297871, year = {2017}, author = {Kääriäinen, H and Houge, G}, title = {Secretary Generals on recent ESHG presidents (2003-2015).}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S20-S22}, doi = {10.1038/ejhg.2017.145}, pmid = {29297871}, issn = {1476-5438}, mesh = {Europe ; History, 21st Century ; Human Genetics/*history ; Humans ; *Personnel Management ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297870, year = {2017}, author = {Romeo, G and Passarge, E and de la Chapelle, A}, title = {The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S6-S12}, doi = {10.1038/ejhg.2017.142}, pmid = {29297870}, issn = {1476-5438}, mesh = {Europe ; Genetics, Medical/*history/trends ; History, 20th Century ; Humans ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297869, year = {2017}, author = {Burn, J}, title = {Recognition of clinical genetics in Europe.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S50}, doi = {10.1038/ejhg.2017.156}, pmid = {29297869}, issn = {1476-5438}, mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization & administration ; Genetic Testing/*methods ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@article {pmid29297868, year = {2017}, author = {Wirth, B}, title = {Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S37-S38}, doi = {10.1038/ejhg.2017.151}, pmid = {29297868}, issn = {1476-5438}, mesh = {Committee Membership ; *Congresses as Topic ; Europe ; History, 21st Century ; Human Genetics/*history ; Humans ; Professional Staff Committees/*history/organization & administration ; Societies, Scientific/*history/organization & administration ; Workforce ; }, }
@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}, doi = {10.2527/jas2017.1875}, 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 {pmid29288271, year = {2017}, author = {Jager, MJ}, title = {Introducing Johanna M. Seddon, the 2017 Recipient of the Mildred Weisenfeld Award.}, journal = {Investigative ophthalmology & visual science}, volume = {58}, number = {14}, pages = {6510-6512}, doi = {10.1167/iovs.17-23542}, pmid = {29288271}, issn = {1552-5783}, mesh = {*Awards and Prizes ; History, 20th Century ; History, 21st Century ; Molecular Epidemiology/*history ; Netherlands ; Ophthalmology/*history ; Societies, Scientific/*history ; Wet Macular Degeneration/*history ; }, }
@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 {pmid29283628, year = {2017}, author = {}, title = {Distinguished Scientific Contributions: Robert Plomin.}, journal = {The American psychologist}, volume = {72}, number = {9}, pages = {885-887}, doi = {10.1037/amp0000268}, pmid = {29283628}, issn = {1935-990X}, mesh = {*Awards and Prizes ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Psychology/*history ; United States ; }, abstract = {The American Psychological Association Awards for Distinguished Scientific Contributions are presented to persons who, in the opinion of the Committee on Scientific Awards, have made distinguished theoretical or empirical contributions to basic research in psychology. Robert Plomin is a recipient of the 2017 award "for leading the transformation of behavioral genetics from an isolated and sometimes vilified scientific outpost to a fully integrated mainstay of scientific psychology." Plomin'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: Fernández'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 {pmid29251435, year = {2017}, author = {Chenette, EJ}, title = {Announcing the winners of our 50th Anniversary Science Communication Competition.}, journal = {The FEBS journal}, volume = {284}, number = {24}, pages = {4172-4173}, doi = {10.1111/febs.14329}, pmid = {29251435}, issn = {1742-4658}, mesh = {Audiovisual Aids ; *Awards and Prizes ; Biological Science Disciplines/*history ; Europe ; History, 21st Century ; Mexico ; Molecular Biology/history ; Motion Pictures ; Neurosciences/history ; Posters as Topic ; Singapore ; *Societies, Scientific ; }, abstract = {The FEBS Journal is pleased to announce the three winners of its 50th Anniversary Science Communication Competition. Read on to see their prize-winning entries!}, }
@article {pmid29246333, year = {2018}, author = {Lebel, RR}, title = {50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.}, journal = {The Journal of pediatrics}, volume = {192}, number = {}, pages = {129}, doi = {10.1016/j.jpeds.2017.07.042}, pmid = {29246333}, issn = {1097-6833}, mesh = {Child ; Ear, Middle/*abnormalities ; Family Health ; Female ; Genes, Recessive ; Genetic Predisposition to Disease ; Genetics/*history ; History, 20th Century ; Humans ; Kidney/*abnormalities ; Male ; Pediatrics/*history ; Syndrome ; Urogenital Abnormalities/*history ; Vagina/*abnormalities ; }, }
@article {pmid29244564, year = {2018}, author = {}, title = {2017 American Society of Naturalists Awards.}, journal = {The American naturalist}, volume = {191}, number = {1}, pages = {vi-viii}, doi = {10.1086/694904}, pmid = {29244564}, issn = {1537-5323}, mesh = {*Awards and Prizes ; Ecology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, }
@article {pmid29239359, year = {2017}, author = {Cornish, VW}, title = {Ronald Breslow (1931-2017).}, journal = {Nature}, volume = {552}, number = {7684}, pages = {176}, doi = {10.1038/d41586-017-08461-5}, pmid = {29239359}, issn = {1476-4687}, mesh = {Antineoplastic Agents/history ; Biochemistry/*history ; Chemistry, Organic/*history ; Coenzymes/chemistry/metabolism ; Cyclodextrins/metabolism ; History, 20th Century ; Hydroxamic Acids/history ; Mentoring ; Molecular Biology/history ; New Jersey ; New York City ; Thiamine/analogs &amp; derivatives/chemistry/pharmacology ; Thiamine Pyrophosphate/chemistry/pharmacology ; Vorinostat ; Women's Rights/history ; }, }
@article {pmid29237895, year = {2017}, author = {Rao, V}, title = {J. B. S. Haldane and Journal of Genetics.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {855-864}, doi = {10.1007/s12041-017-0841-4}, pmid = {29237895}, issn = {0973-7731}, mesh = {*Genetic Research ; Genetics/*history ; History, 20th Century ; Humans ; *Periodicals as Topic ; *Publishing ; }, abstract = {This is a brief sketch of the history of Journal of Genetics from its beginning in 1909 to the taking over of its publication by the Indian Academy of Sciences in 1985. The account is centred on J. B. S. Haldane's involvement with it over many years, especially as Editor, initially in the UK and later in India.}, }
@article {pmid29237894, year = {2017}, author = {Mcouat, G}, title = {J. B. S. Haldane's passage to India: reconfiguring science.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {845-852}, pmid = {29237894}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; India ; Science/*history ; }, abstract = {In 1957, John Burdon Sanderson (JBS) Haldane (1892-1964), the world's leading population geneticist, committed political radical and one of the three 'founders' of neo-Darwinian 'Modern Synthesis' of twentieth century biology (Sarkar 1995; Haldane 1932; Cain 2009; Smocovitis 1996), ostentatiously renounced both his British citizenship and his prestigious chair at University College London. In a decisively and very public anti-imperial gesture, ostensibly played out as a reaction to the Suez crisis (although his discontent was simmering for quite some time), Haldane, and his partner, geneticistHelen Spurway (1917-1977), turned their backs on Britain and set off to India to offer their considerable scientific prestige, their inexhaustible organisational abilities, along with their leading Journal of Genetics, behind the efforts to build a 'modern', democratic India emerging out of the ashes of colonial rule. Haldane's support of independent India was a major triumph for the new state, itself in the midst of negotiating a fine balance between rapid modernization through science and technology and an postcolonial respect for traditional 'non-Western' values. Although his time in India was short, Haldane's few years in India were marked by a frenzied engagement with the new India, its science, its government and its culture (Rao 2013).}, }
@article {pmid29237893, year = {2017}, author = {Dejong-Lambert, W}, title = {J. B. S. Haldane and Лысенковщина (Lysenkovschina).}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {837-844}, pmid = {29237893}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; USSR ; }, }
@article {pmid29237892, year = {2017}, author = {Damodaran, V}, title = {Janaki Ammal, C. D. Darlington and J. B. S. Haldane: scientific encounters at the end of empire.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {827-836}, pmid = {29237892}, issn = {0973-7731}, mesh = {*Biological Evolution ; *Genetic Research ; Genetics, Population/*history ; History, 20th Century ; Humans ; *Models, Genetic ; }, abstract = {Right from the beginning, genetics has been an international venture, with international networks involving the collaboration of scientists across continents. Janaki Ammal's career illustrates this. This paper traces her scientific path by situating it in the context of her relationships with J. B. S. Haldane and C. D. Darlington.}, }
@article {pmid29237891, year = {2017}, author = {Wilmot, S}, title = {J. B. S. Haldane: the John Innes years.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {815-826}, pmid = {29237891}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237890, year = {2017}, author = {Guha, R}, title = {Becoming an Indian.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {805-814}, doi = {10.1007/s12041-017-0835-2}, pmid = {29237890}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; India ; }, }
@article {pmid29237889, year = {2017}, author = {Bateson, P}, title = {The cleverest man I never met.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {801-804}, pmid = {29237889}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237886, year = {2017}, author = {Charlesworth, B}, title = {Haldane and modern evolutionary genetics.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {773-782}, pmid = {29237886}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; *Genetics, Population ; History, 20th Century ; Humans ; }, }
@article {pmid29237885, year = {2017}, author = {Rao, V}, title = {Haldane's view of natural selection.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {765-772}, pmid = {29237885}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Humans ; Models, Genetic ; *Selection, Genetic ; United States ; }, abstract = {Among many things, J. B. S. Haldane is known for demonstrating how the principle of natural selection can be used to build a mathematical, and in particular quantitative, theory of evolution. However, to the end, he remained open to the idea of other evolutionary mechanisms. In his late writings, he repeatedly drew attention to situations in which natural selection did not operate, was hemmed in by constraints, or worked in a surprising manner. In this respect Haldane stands out among the architects of the Modern Synthesis.}, }
@article {pmid29237883, year = {2017}, author = {Edwards A W, F}, title = {Haldane and Fisher - scientific interactions.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {747-752}, doi = {10.1007/s12041-017-0827-2}, pmid = {29237883}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237882, year = {2017}, author = {Bodmer, WF}, title = {A Haldane perspective from a Fisher student.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {743-746}, pmid = {29237882}, issn = {0973-7731}, mesh = {Blood Group Antigens/*genetics ; Genetics, Population/*history ; History, 20th Century ; Human Genetics/*history ; Humans ; Selection, Genetic/*genetics ; }, }
@article {pmid29237881, year = {2017}, author = {Crow, JF}, title = {Haldane, Fisher and Wright.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {741-742}, doi = {10.1007/s12041-017-0846-z}, pmid = {29237881}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237879, year = {2017}, author = {Divakaran, PP}, title = {J. B. S. Haldane: an isolated souvenir.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {733}, doi = {10.1007/s12041-017-0839-y}, pmid = {29237879}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237878, year = {2017}, author = {Swaminathan, MS}, title = {J. B. S. Haldane: an uncommon scientist.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {731-732}, doi = {10.1007/s12041-017-0834-3}, pmid = {29237878}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237877, year = {2017}, author = {Mitchison, NA}, title = {J. B. S. Haldane, as I knew him.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {729}, doi = {10.1007/s12041-017-0828-1}, pmid = {29237877}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237876, year = {2017}, author = {Mitchison, N}, title = {In the dark hours.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {725-728}, doi = {10.1007/s12041-017-0847-y}, pmid = {29237876}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; }, }
@article {pmid29237875, year = {2017}, author = {Haldane J B, S}, title = {An autobiography in brief.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {719-723}, doi = {10.1007/s12041-017-0848-x}, pmid = {29237875}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; Selection, Genetic/*genetics ; }, }
@article {pmid29233487, year = {2018}, author = {Metcalfe, SA}, title = {Genetic counselling, patient education, and informed decision-making in the genomic era.}, journal = {Seminars in fetal &amp; neonatal medicine}, volume = {23}, number = {2}, pages = {142-149}, doi = {10.1016/j.siny.2017.11.010}, pmid = {29233487}, issn = {1878-0946}, mesh = {Biomedical Research/methods/trends ; *Decision Making ; Family Characteristics ; Female ; Genetic Counseling/*history/psychology/trends ; Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history ; Genetic Testing/*methods/trends ; Genomics/education/*history/methods/trends ; Health Knowledge, Attitudes, Practice ; History, 20th Century ; History, 21st Century ; Humans ; Male ; *Patient Education as Topic/trends ; Pregnancy ; Prenatal Diagnosis/*methods/psychology/trends ; Psychosocial Support Systems ; Stress, Psychological/etiology/prevention &amp; control/psychology ; }, abstract = {Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices. Previous studies would suggest that many women do not make informed decisions about prenatal genetic screening, and the introduction of genomic technologies has generally added to the ethical debate. Appropriate pre-test genetic counselling is recommended, and healthcare providers should include information that is balanced, accurate and up-to-date, comprising written and/or e-learning tools, as well as providing psychosocial support so that couples consider the pros and cons of being tested and can make informed decisions.}, }
@article {pmid29226715, year = {2017}, author = {Raskó, I and Horváth, E}, title = {[Professor George Szemere (1931-2016) founder of the first regional genetic counselling service in Hungary].}, journal = {Orvosi hetilap}, volume = {158}, number = {50}, pages = {2003-2006}, doi = {10.1556/650.2017.HO2586}, pmid = {29226715}, issn = {0030-6002}, mesh = {Genetic Counseling/*history ; Genetic Testing/history ; History, 20th Century ; History, 21st Century ; Humans ; Hungary ; Male ; }, }
@article {pmid29218550, year = {2017}, author = {Weiss, TM}, title = {Small Angle Scattering: Historical Perspective and Future Outlook.}, journal = {Advances in experimental medicine and biology}, volume = {1009}, number = {}, pages = {1-10}, doi = {10.1007/978-981-10-6038-0_1}, pmid = {29218550}, issn = {0065-2598}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/instrumentation/methods/trends ; Neutron Diffraction/*history/instrumentation/methods ; *Scattering, Small Angle ; Synchrotrons/history/instrumentation ; X-Ray Diffraction/*history/instrumentation/methods ; }, abstract = {Small angle scattering (SAS) is a powerful and versatile tool to elucidate the structure of matter at the nanometer scale. Recently, the technique has seen a tremendous growth of applications in the field of structural molecular biology. Its origins however date back to almost a century ago and even though the methods potential for studying biological macromolecules was realized already early on, it was only during the last two decades that SAS gradually became a major experimental technique for the structural biologist. This rise in popularity and application was driven by the concurrence of different key factors such as the increased accessibility to high quality SAS instruments enabled by the growing number of synchrotron facilities and neutron sources established around the world, the emerging need of the structural biology community to study large multi-domain complexes and flexible systems that are hard to crystalize, and in particular the development and availability of data analysis software together with the overall access to computational resources powerful enough to run them. Today, SAS is an established and widely used tool for structural studies on bio-macromolecules. Given the potential offered by the next generation X-ray and neutron sources as well as the development of new, innovative approaches to collect and analyze solution scattering data, the application of SAS in the field of structural molecular biology will certainly continue to thrive in the years to come.}, }
@article {pmid29213124, year = {2018}, author = {Cope, AP and Barnes, MR and Belson, A and Binks, M and Brockbank, S and Bonachela-Capdevila, F and Carini, C and Fisher, BA and Goodyear, CS and Emery, P and Ehrenstein, MR and Gozzard, N and Harris, R and Hollis, S and Keidel, S and Levesque, M and Lindholm, C and McDermott, MF and McInnes, IB and Mela, CM and Parker, G and Read, S and Pedersen, AW and Ponchel, F and Porter, D and Rao, R and Rowe, A and Schulz-Knappe, P and Sleeman, MA and Symmons, D and Taylor, PC and Tom, B and Tsuji, W and Verbeeck, D and Isaacs, JD and , }, title = {The RA-MAP Consortium: a working model for academia-industry collaboration.}, journal = {Nature reviews. Rheumatology}, volume = {14}, number = {1}, pages = {53-60}, pmid = {29213124}, issn = {1759-4804}, support = {G1001516//Medical Research Council/United Kingdom ; MR/N005813/1//Medical Research Council/United Kingdom ; 18475//Arthritis Research UK/United Kingdom ; MC_UP_1302/3//Medical Research Council/United Kingdom ; G1001518//Medical Research Council/United Kingdom ; MC_UU_00002/2//Medical Research Council/United Kingdom ; RC-PG-0407-10054//Department of Health/United Kingdom ; }, mesh = {Arthritis, Rheumatoid/*genetics/therapy ; Biomarkers ; Biomedical Research/*organization &amp; administration ; *Cooperative Behavior ; Genomics/history/*methods ; History, 21st Century ; Humans ; Industry/*organization &amp; administration ; Phenotype ; Research/*organization &amp; administration ; United Kingdom/epidemiology ; }, abstract = {Collaboration can be challenging; nevertheless, the emerging successes of large, multi-partner, multi-national cooperatives and research networks in the biomedical sector have sustained the appetite of academics and industry partners for developing and fostering new research consortia. This model has percolated down to national funding agencies across the globe, leading to funding for projects that aim to realise the true potential of genomic medicine in the 21st century and to reap the rewards of 'big data'. In this Perspectives article, the experiences of the RA-MAP consortium, a group of more than 140 individuals affiliated with 21 academic and industry organizations that are focused on making genomic medicine in rheumatoid arthritis a reality are described. The challenges of multi-partner collaboration in the UK are highlighted and wide-ranging solutions are offered that might benefit large research consortia around the world.}, }
@article {pmid29203699, year = {2017}, author = {Hoskins, SG}, title = {Inside the Literature: An Interview with Sally G. Hoskins, 2017 Recipient of the Elizabeth W. Jones Award for Excellence in Education.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1223-1225}, doi = {10.1534/genetics.117.300416}, pmid = {29203699}, issn = {1943-2631}, mesh = {Awards and Prizes ; *Education ; Genetics/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Publications ; }, abstract = {The Genetics Society of America's Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. The 2017 recipient is Sally G. Hoskins, in recognition of her role in developing and promoting the transformative science education method CREATE (Consider, Read, Elucidate hypotheses, Analyze and interpret data, and Think of the next Experiment). This innovative approach uses primary literature to engage students, allowing them to experience for themselves the creativity and challenge of study design, analysis, interpretation, collaboration, and debate. Comprehensive evaluation of CREATE has consistently found that students improve in difficult-to-teach skills like critical thinking and experimental design, while showing improved attitudes and beliefs about science.This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/hoskins/.}, }
@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 {pmid29203697, year = {2017}, author = {Hodgkin, J}, title = {Frontiers of Knowledge: An Interview with 2017 Edward Novitski Prize Recipient Jonathan Hodgkin.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1219-1220}, doi = {10.1534/genetics.117.300400}, pmid = {29203697}, issn = {1943-2631}, mesh = {Animals ; Awards and Prizes ; Caenorhabditis elegans/*genetics/physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Sex Determination Processes ; }, abstract = {The Genetics Society of America's Edward Novitski Prize recognizes a single experimental accomplishment or a body of work in which an exceptional level of creativity and intellectual ingenuity has been used to design and execute scientific experiments to solve a difficult problem in genetics. The 2017 winner, Jonathan Hodgkin, used elegant genetic studies to unravel the sex determination pathway in Caenorhabditis elegans He inferred the order of genes in the pathway and their modes of regulation using epistasis analyses-a powerful tool that was quickly adopted by other researchers. He expanded the number and use of informational suppressor mutants in C. elegans that are able to act on many genes. He also introduced the use of collections of wild C. elegans to study naturally occurring genetic variation, paving the way for SNP mapping and QTL analysis, as well as studies of hybrid incompatibilities between worm species. His current work focuses on nematode-bacterial interactions and innate immunity.}, }
@article {pmid29203696, year = {2017}, author = {Gerbi, SA}, title = {Treasure Your Exceptions: An Interview with 2017 George Beadle Award Recipient Susan A. Gerbi.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1215-1217}, doi = {10.1534/genetics.117.300398}, pmid = {29203696}, issn = {1943-2631}, mesh = {Awards and Prizes ; DNA/genetics ; DNA Replication/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; RNA, Ribosomal/genetics ; }, abstract = {THE Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. The 2017 recipient is Susan A. Gerbi, who has been a prominent leader and advocate for the scientific community. In the course of her research on DNA replication, Gerbi helped develop the method of Replication Initiation Point (RIP) mapping to map replication origins at the nucleotide level, improving resolution by two orders of magnitude. RIP mapping also provides the basis for the now popular use of λ-exonuclease to enrich nascent DNA to map replication origins genome-wide. Gerbi's second area of research on ribosomal RNA revealed a conserved core secondary structure, as well as conserved nucleotide elements (CNEs). Some CNEs are universally conserved, while other CNEs are conserved in all eukaryotes but not in archaea or bacteria, suggesting a eukaryotic function. Intriguingly, the majority of the eukaryotic-specific CNEs line the tunnel of the large ribosomal subunit through which the nascent polypeptide exits. Gerbi has promoted the fly Sciara coprophila as a model organism ever since she used its enormous polytene chromosomes to help develop the method of in situ hybridization during her Ph.D. research in Joe Gall's laboratory. The Gerbi laboratory maintains the Sciara International Stock Center and manages its future, actively spreading Sciara stocks to other laboratories. Gerbi has also served in many leadership roles, working on issues of science policy, women in science, scientific training, and career preparation. This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/gerbi.}, }
@article {pmid29203695, year = {2017}, author = {Lewontin, RC}, title = {Random Factors: An Interview with 2017 Thomas Hunt Morgan Medal Recipient Richard C. Lewontin.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1213-1214}, doi = {10.1534/genetics.117.300396}, pmid = {29203695}, issn = {1943-2631}, mesh = {Awards and Prizes ; *Biological Evolution ; Genetic Variation ; Genetics/*history ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The Thomas Hunt Morgan Medal is awarded to an individual member of the Genetics Society of America for lifetime achievement in the field of genetics. It recognizes the full body of work of an exceptional geneticist. The 2017 recipient is Richard C. Lewontin, whose contributions and influence have profoundly shaped the field of evolutionary genetics. As a testament to this legacy, his nomination for the Morgan Medal was cosigned by 160 faculty members from around the world. A student of Theodosius Dobzhansky, Lewontin's early work established the two-locus theory, which laid the foundation for our understanding of linkage disequilibrium. In the 1960s, he collaborated with biochemist Jack Hubby on a method to quantify natural genetic variation using protein gel electrophoresis. This approach helped launch the field of molecular evolution and spurred a great influx of data into a formerly theory-dominated domain. The subsequent contributions of Lewontin and his group helped set the stage for much of modern population genetics and genomics research. As well as this direct impact, Lewontin influenced the field through his guidance and inspiration, as well as through his capacity to spur vigorous but productive debates. His prominent role as a writer and social commentator included highlighting problems with the inference of heritability, concepts of race, and the overemphasis of genetic influences on phenotypes.}, }
@article {pmid29195068, year = {2017}, author = {Rosbash, M}, title = {Life Is an N of 1.}, journal = {Cell}, volume = {171}, number = {6}, pages = {1241-1245}, doi = {10.1016/j.cell.2017.11.027}, pmid = {29195068}, issn = {1097-4172}, mesh = {Circadian Rhythm ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid29195067, year = {2017}, author = {Young, MW}, title = {As Time Flew By.}, journal = {Cell}, volume = {171}, number = {6}, pages = {1236-1240}, doi = {10.1016/j.cell.2017.11.022}, pmid = {29195067}, issn = {1097-4172}, mesh = {Animals ; *Circadian Rhythm ; Drosophila/*genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid29168817, year = {2017}, author = {Dolgin, E}, title = {The most popular genes in the human genome.}, journal = {Nature}, volume = {551}, number = {7681}, pages = {427-431}, doi = {10.1038/d41586-017-07291-9}, pmid = {29168817}, issn = {1476-4687}, mesh = {Animals ; Apolipoproteins E/genetics/metabolism ; *Bibliometrics ; Biomedical Research/history/*statistics &amp; numerical data ; CD4 Antigens/genetics/immunology ; Drosophila melanogaster/genetics ; GRB2 Adaptor Protein/genetics/metabolism ; *Genes, p53 ; Genetics/history/*statistics &amp; numerical data ; Genome, Human/*genetics ; Hemoglobins/genetics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Mice ; Rats ; Tumor Necrosis Factor-alpha/genetics/metabolism ; Tumor Suppressor Protein p53/genetics/metabolism ; }, }
@article {pmid29137849, year = {2018}, author = {Kleinman, K}, title = {Genera, evolution, and botanists in 1940: Edgar Anderson's &quot;Survey of Modern Opinion&quot;.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {67}, number = {}, pages = {1-7}, doi = {10.1016/j.shpsc.2017.11.001}, pmid = {29137849}, issn = {1879-2499}, mesh = {*Biological Evolution ; Botany/*history ; Cell Biology/history ; Classification/*methods ; Genetics/history ; History, 20th Century ; Missouri ; Plants/*classification/genetics ; }, }
@article {pmid29128491, year = {2018}, author = {Harris, S and Reed, D and Vora, NL}, title = {Screening for fetal chromosomal and subchromosomal disorders.}, journal = {Seminars in fetal &amp; neonatal medicine}, volume = {23}, number = {2}, pages = {85-93}, pmid = {29128491}, issn = {1878-0946}, support = {K12 HD001441/HD/NICHD NIH HHS/United States ; K23 HD088742/HD/NICHD NIH HHS/United States ; }, mesh = {Aneuploidy ; Chromosome Disorders/*diagnosis/embryology/genetics/history ; DNA/blood/chemistry ; DNA Mutational Analysis/trends ; Female ; Genetic Counseling/history/trends ; Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history ; Genetic Testing/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis/*history/methods/trends ; }, abstract = {Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders. The optimal method for incorporating cfDNA screening into existing programs continues to be debated. It is important that obstetricians understand the biological foundations and limitations of this technology and provide patients with up-to-date information regarding cfDNA screening.}, }
@article {pmid29117606, year = {2018}, author = {Wigand, ME and Söhner, FP and Jäger, M and Becker, T and Wiegand, HF}, title = {[The Dawn of Modernity: Giovanni Boccaccio's &quot;The Decameron&quot; and the Tradition of Genetic Understanding].}, journal = {Fortschritte der Neurologie-Psychiatrie}, volume = {86}, number = {6}, pages = {335-341}, doi = {10.1055/s-0043-119795}, pmid = {29117606}, issn = {1439-3522}, mesh = {Genetics/*history ; History, 20th Century ; History, Medieval ; Humans ; *Literature ; Mental Disorders/*genetics/*history ; Psychiatry/*history ; }, abstract = {&quot;The Decameron&quot; by Giovanni Boccaccio is a work which stands between the Middle Ages and Modernity. There are theories which postulate that concepts of identity and individuality, which arose with the dawn of Modernity, have an influence on mental illness. We chose a hermeneutic approach towards &quot;The Decameron&quot; to analyse the depiction of a changing society, of love, mental suffering and the role of therapeutic interventions. We conclude that Boccaccio showed an interest in intrapsychic mechanisms, an idea pertaining to Modernity, and discuss this idea in light of today's psychiatry and Karl Jaspers' concept of &quot;genetic understanding&quot;.}, }
@article {pmid29117019, year = {2017}, author = {Smoller, JW}, title = {A Quarter Century of Progress in Psychiatric Genetics.}, journal = {Harvard review of psychiatry}, volume = {25}, number = {6}, pages = {256-258}, doi = {10.1097/HRP.0000000000000180}, pmid = {29117019}, issn = {1465-7309}, support = {K24 MH094614/MH/NIMH NIH HHS/United States ; }, mesh = {*Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mental Disorders/*genetics ; *Psychiatry/history ; }, }
@article {pmid29116060, year = {2017}, author = {}, title = {[Academician Andrey Dar'evich Mirzabekov (to the 80th anniversary)].}, journal = {Molekuliarnaia biologiia}, volume = {51}, number = {5}, pages = {747-751}, pmid = {29116060}, issn = {0026-8984}, mesh = {Animals ; Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Russia ; }, }
@article {pmid29105053, year = {2018}, author = {Harper, PS}, title = {Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.}, journal = {Clinical genetics}, volume = {94}, number = {1}, pages = {115-124}, doi = {10.1111/cge.13167}, pmid = {29105053}, issn = {1399-0004}, mesh = {Biomedical Research ; *Education, Medical/history/trends ; France ; *Genetics, Medical/education/history/legislation &amp; jurisprudence/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Interviews as Topic ; Medicine ; *Physicians ; *Research Personnel ; Science ; }, abstract = {The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan. A separate group of paediatricians, originally at Hôpital Trousseau under Raymond Turpin, including Jérôme Lejeune, Marthe Gautier and Roland Berger, was responsible for major advances in human cytogenetics. Outside Paris, workers were interviewed from Marseille, Strasbourg and Nancy, although not from Lyon, where Jacques-Michel Robert was an early pioneer, particularly of genetic counselling. Challenges in the development of medical genetics in France included the advent of prenatal diagnosis with its ethical issues, the emergence of medical genetics as a distinct specialty from paediatrics, and its spread from Paris across France. These and other aspects are described by those interviewed from their own experiences, given in Appendix S1, while the fully edited transcripts for most interviews are accessible on the Web: www.genmedhist.org/interviews.}, }
@article {pmid29100068, year = {2017}, author = {Yuste, R}, title = {The Origins of the BRAIN Initiative: A Personal Journey.}, journal = {Cell}, volume = {171}, number = {4}, pages = {726-735}, doi = {10.1016/j.cell.2017.10.026}, pmid = {29100068}, issn = {1097-4172}, mesh = {Animals ; Brain/metabolism/physiology ; Calcium Signaling ; Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Spain ; United States ; }, }
@article {pmid29082852, year = {2017}, author = {Calabrese, EJ}, title = {A glance into how the cold war and governmental loyalty investigations came to affect a leading U.S. radiation geneticist: Lewis J. Stadler's nightmare.}, journal = {Philosophy, ethics, and humanities in medicine : PEHM}, volume = {12}, number = {1}, pages = {8}, pmid = {29082852}, issn = {1747-5341}, mesh = {History, 20th Century ; Humans ; *Politics ; *Radiation Genetics/history ; United States ; }, abstract = {This paper describes an episode in the life of the prominent plant radiation geneticist, Lewis J. Stadler (1897-1954) during which he became a target of the Federal Bureau of Investigation (FBI) concerning loyalty to the United States due to possible associations with the communist party. The research is based on considerable private correspondence of Dr. Stadler, the FBI interrogatory questions and Dr. Stadler's answers and letters of support for Dr. Stadler by leading scientists such as, Hermann J. Muller.}, }
@article {pmid29074157, year = {2018}, author = {Besser, J and Carleton, HA and Gerner-Smidt, P and Lindsey, RL and Trees, E}, title = {Next-generation sequencing technologies and their application to the study and control of bacterial infections.}, journal = {Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases}, volume = {24}, number = {4}, pages = {335-341}, pmid = {29074157}, issn = {1469-0691}, support = {CC999999//Intramural CDC HHS/United States ; }, mesh = {Bacterial Infections/*diagnosis/*epidemiology ; High-Throughput Nucleotide Sequencing/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/history/*methods ; }, abstract = {BACKGROUND: With the efficiency and the decreasing cost of next-generation sequencing, the technology is being rapidly introduced into clinical and public health laboratory practice.<br><br>AIMS: The historical background and principles of first-, second- and third-generation sequencing are described, as are the characteristics of the most commonly used sequencing instruments.<br><br>SOURCES: Peer-reviewed literature, white papers and meeting reports.<br><br>CONTENT AND IMPLICATIONS: Next-generation sequencing is a technology that could potentially replace many traditional microbiological workflows, providing clinicians and public health specialists with more actionable information than hitherto achievable. Examples of the clinical and public health uses of the technology are provided. The challenge of comparability of different sequencing platforms is discussed. Finally, the future directions of the technology integrating it with laboratory management and public health surveillance systems, and moving it towards performing sequencing directly from the clinical specimen (metagenomics), could lead to yet another fundamental transformation of clinical diagnostics and public health surveillance.}, }
@article {pmid29058018, year = {2017}, author = {Gramelsberger, G}, title = {[Big Data Revolution or Data Hubris? : On the Data Positivism of Molecular Biology].}, journal = {NTM}, volume = {25}, number = {4}, pages = {459-483}, pmid = {29058018}, issn = {1420-9144}, mesh = {Algorithms ; *Big Data ; Data Science ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Molecular Biology/*history ; Sequence Analysis, DNA/*history/methods ; }, abstract = {Genome data, the core of the 2008 proclaimed big data revolution in biology, are automatically generated and analyzed. The transition from the manual laboratory practice of electrophoresis sequencing to automated DNA-sequencing machines and software-based analysis programs was completed between 1982 and 1992. This transition facilitated the first data deluge, which was considerably increased by the second and third generation of DNA-sequencers during the 2000s. However, the strategies for evaluating sequence data were also transformed along with this transition. The paper explores both the computational strategies of automation, as well as the data evaluation culture connected with it, in order to provide a complete picture of the complexity of today's data generation and its intrinsic data positivism. This paper is thereby guided by the question, whether this data positivism is the basis of the big data revolution of molecular biology announced today, or it marks the beginning of its data hubris.}, }
@article {pmid29042150, year = {2018}, author = {Krone, SM}, title = {Paul Joyce and the infinite alleles model.}, journal = {Theoretical population biology}, volume = {122}, number = {}, pages = {3-4}, doi = {10.1016/j.tpb.2017.10.001}, pmid = {29042150}, issn = {1096-0325}, mesh = {*Alleles ; Computer Simulation ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; *Models, Genetic ; Poisson Distribution ; }, abstract = {Paul Joyce's work touched on a variety of topics in population genetics-from mathematical models of idealized systems to working closely with biologists on experimental evolution and landscape genetics. I will focus on his earlier mathematical/statistical work that centered on the infinite alleles model.}, }
@article {pmid29039112, year = {2018}, author = {Button, C}, title = {James Cossar Ewart and the Origins of the Animal Breeding Research Department in Edinburgh, 1895-1920.}, journal = {Journal of the history of biology}, volume = {51}, number = {3}, pages = {445-477}, pmid = {29039112}, issn = {1573-0387}, support = {200428/Z/15/Z//Wellcome Trust/United Kingdom ; }, mesh = {Breeding/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Scotland ; Universities/*history ; }, abstract = {In 1919 the Animal Breeding Research Department was established in Edinburgh. This Department, later renamed the Institute of Animal Genetics, forged an international reputation, eventually becoming the centrepiece of a cluster of new genetics research units and institutions in Edinburgh after the Second World War. Yet despite its significance for institutionalising animal genetics research in the UK, the origins and development of the Department have not received as much scholarly attention as its importance warrants. This paper sheds new light on Edinburgh's place in early British genetics by drawing upon recently catalogued archival sources including the papers of James Cossar Ewart, Regius Professor of Natural History at the University of Edinburgh between 1882 and 1927. Although presently a marginal figure in genetics historiography, Ewart established two sites for experimental animal breeding work between 1895 and 1911 and played a central role in the founding of Britain's first genetics lectureship, also in 1911. These early efforts helped to secure government funding in 1913. However, a combination of the First World War, bureaucratic problems and Ewart's personal ambitions delayed the creation of the Department and the appointment of its director by another six years. This paper charts the institutionalisation of animal breeding and genetics research in Edinburgh within the wider contexts of British genetics and agriculture in the early twentieth century.}, }
@article {pmid29038982, year = {2017}, author = {Deichmann, U}, title = {Hierarchy, determinism, and specificity in theories of development and evolution.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {33}, doi = {10.1007/s40656-017-0160-3}, pmid = {29038982}, issn = {0391-9714}, mesh = {*Biological Evolution ; Developmental Biology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Systems Biology/history ; }, abstract = {The concepts of hierarchical organization, genetic determinism and biological specificity (for example of species, biologically relevant macromolecules, or genes) have played a crucial role in biology as a modern experimental science since its beginnings in the nineteenth century. The idea of genetic information (specificity) and genetic determination was at the basis of molecular biology that developed in the 1940s with macromolecules, viruses and prokaryotes as major objects of research often labelled &quot;reductionist&quot;. However, the concepts have been marginalized or rejected in some of the research that in the late 1960s began to focus additionally on the molecularization of complex biological structures and functions using systems approaches. This paper challenges the view that 'molecular reductionism' has been successfully replaced by holism and a focus on the collective behaviour of cellular entities. It argues instead that there are more fertile replacements for molecular 'reductionism', in which genomics, embryology, biochemistry, and computer science intertwine and result in research that is as exact and causally predictive as earlier molecular biology.}, }
@article {pmid29038914, year = {2017}, author = {Morange, M}, title = {Homage to Eric Davidson.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {30}, doi = {10.1007/s40656-017-0157-y}, pmid = {29038914}, issn = {0391-9714}, mesh = {Animals ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Models, Genetic ; Molecular Biology/*history ; Sea Urchins/embryology ; Systems Biology/history ; }, abstract = {The Britten-Davidson model of genetic regulation was well received by American molecular biologists and embryologists, but not by the members of the French School of molecular biology. In particular, François Jacob considered it too abstract and too removed from experiments. I re-examine the contrast between the Britten-Davidson model and the operon model by Jacob and Monod, the different scientific contexts in which they were produced and the different roles they played. I also describe my recent encounters with Eric Davidson, and how I discovered the extraordinary continuity of his work on the development of the sea urchin, as well as his rich personality.}, }
@article {pmid29038908, year = {2017}, author = {Deichmann, U}, title = {Eric Davidson, his philosophy, and the history of science.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {31}, doi = {10.1007/s40656-017-0158-x}, pmid = {29038908}, issn = {0391-9714}, mesh = {Developmental Biology/*history ; *Gene Regulatory Networks ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {Eric Davidson, a passionate molecular developmental biologist and intellectual, believed that conceptual advances in the sciences should be based on knowledge of conceptual history. Convinced of the superiority of a causal-analytical approach over other methods, he succeeded in successfully applying this approach to the complex feature of organismal development by introducing the far-reaching concept of developmental Gene Regulatory Networks. This essay reviews Davidson's philosophy, his support for the history of science, and some aspects of his scientific personality.}, }
@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 &quot;epigenetics&quot; 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 &quot;molecular epigenetics&quot;. 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 {pmid29030730, year = {2017}, author = {Morange, M and Deichmann, U}, title = {Introduction: Eric Davidson and the molecular biology of evolution and development.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {28}, doi = {10.1007/s40656-017-0155-0}, pmid = {29030730}, issn = {0391-9714}, mesh = {*Biological Evolution ; Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, abstract = {Between November 30th and December 2nd, 2015, the Jacques Loeb Centre for the History and Philosophy of the Life Sciences at Ben-Gurion University of the Negev in Beer Sheva (Israel) held its Eighth International Workshop under the title &quot;From Genome to Gene: Causality, Synthesis and Evolution&quot;. Eric Davidson, the founder of the concept of developmental Gene Regulatory Networks, had regularly attended the previous meetings, and his participation in this one was expected, but he suddenly passed away 3 months before. In this paper, we provide an introduction and overview on five papers that were presented at the workshop and examine the importance of genomes and gene regulatory networks in extant biology, developmental biology, evolutionary biology and medicine, as well as a collection of remembrances of Eric Davidson, of his personality as well as of his scientific contributions. Historical perspectives are provided, and the ethical issues raised by the new tools developed to modify the genome are also discussed.}, }
@article {pmid29029161, year = {2017}, author = {}, title = {Society for Glycobiology Awards-2017.}, journal = {Glycobiology}, volume = {27}, number = {12}, pages = {1077-1080}, doi = {10.1093/glycob/cwx085}, pmid = {29029161}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; *Societies, Scientific ; }, }
@article {pmid29017033, year = {2017}, author = {Kolchinsky, EI and Kutschera, U and Hossfeld, U and Levit, GS}, title = {Russia's new Lysenkoism.}, journal = {Current biology : CB}, volume = {27}, number = {19}, pages = {R1042-R1047}, doi = {10.1016/j.cub.2017.07.045}, pmid = {29017033}, issn = {1879-0445}, mesh = {Crops, Agricultural/genetics ; Epigenesis, Genetic ; Epigenomics/history ; Genetics/*history ; History, 20th Century ; Plant Breeding/*history/methods ; Russia ; USSR ; }, abstract = {During the late 1940s and 1950s, a pseudo-scientific concept based on Marxist-Leninist ideology became internationally known as 'Lysenkoism'. Lysenkoism was a neo-Lamarckian idea, claiming that in crop plants, such as wheat, environmental influences are heritable via all cells of the organism. Lysenkoism was applied to agriculture during the Stalin era with disastrous consequences. Despite the triumphs of modern genetics, and the disproval of Lysenkoism, recent years have seen a 're-thinking' of this doctrine in Russia. This disturbing pro-Lysenko movement, which is accompanied by a growing sympathy for Stalin, claims to have its scientific roots in modern epigenetics, specifically the heritability of variation by mechanisms other than changes in DNA sequence. Based on recent research on the model plant Arabidopsis thaliana, its is clear that Lysenkoism has nothing to do with heritable 'epigenetic' modifications. Biologists should defend science against ideological and political interferences.}, }
@article {pmid28994388, year = {2017}, author = {Jordan, B}, title = {[Cancer: three eras of personalized medicine].}, journal = {Medecine sciences : M/S}, volume = {33}, number = {10}, pages = {905-908}, doi = {10.1051/medsci/20173310024}, pmid = {28994388}, issn = {1958-5381}, mesh = {Biomarkers, Tumor/genetics ; Gene Expression Profiling/history/methods/trends ; Gene Expression Regulation, Neoplastic ; Genomics/history/trends ; History, 20th Century ; History, 21st Century ; Humans ; *Medical Oncology/history/methods/trends ; Microarray Analysis/history/methods/trends ; Molecular Targeted Therapy/history/trends ; Neoplasms/diagnosis/*genetics/therapy ; Precision Medicine/*history/methods/*trends ; Prognosis ; }, abstract = {Since the completion of the first human DNA sequence, genomic approaches have penetrated into cancer research and therapy: first through expression profiling for diagnostic, prognostic and predictive purposes, then by sequencing of tumour DNA in order to define and apply targeted therapies. These overlapping changes occurred quite rapidly and are now overshadowed by immuno-oncology approaches that show much promise. There is however still much left to understand to make this more widely applicable, and the extreme cost of these therapies is a serious concern.}, }
@article {pmid28986915, year = {2018}, author = {Stevens, H}, title = {Globalizing Genomics: The Origins of the International Nucleotide Sequence Database Collaboration.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {657-691}, doi = {10.1007/s10739-017-9490-y}, pmid = {28986915}, issn = {1573-0387}, support = {Tier 1//Ministry of Education - Singapore/International ; RG56/13//Ministry of Education - Singapore/International ; }, mesh = {Databases, Nucleic Acid/*history ; Europe ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Information Storage and Retrieval ; Japan ; Nucleotides/*analysis ; United States ; }, abstract = {Genomics is increasingly considered a global enterprise - the fact that biological information can flow rapidly around the planet is taken to be important to what genomics is and what it can achieve. However, the large-scale international circulation of nucleotide sequence information did not begin with the Human Genome Project. Efforts to formalize and institutionalize the circulation of sequence information emerged concurrently with the development of centralized facilities for collecting that information. That is, the very first databases build for collecting and sharing DNA sequence information were, from their outset, international collaborative enterprises. This paper describes the origins of the International Nucleotide Sequence Database Collaboration between GenBank in the United States, the European Molecular Biology Laboratory Databank, and the DNA Database of Japan. The technical and social groundwork for the international exchange of nucleotide sequences created the conditions of possibility for imagining nucleotide sequences (and subsequently genomes) as a &quot;global&quot; objects. The &quot;transnationalism&quot; of nucleotide sequence was critical to their ontology - what DNA sequences came to be during the Human Genome Project was deeply influenced by international exchange.}, }
@article {pmid28980196, year = {2018}, author = {O'Malley, MA}, title = {The Experimental Study of Bacterial Evolution and Its Implications for the Modern Synthesis of Evolutionary Biology.}, journal = {Journal of the history of biology}, volume = {51}, number = {2}, pages = {319-354}, pmid = {28980196}, issn = {1573-0387}, support = {IdEX//Université de Bordeaux/International ; }, mesh = {Bacteria/*genetics ; Biochemistry/*history ; *Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Microbiology/*history ; *Selection, Genetic ; }, abstract = {Since the 1940s, microbiologists, biochemists and population geneticists have experimented with the genetic mechanisms of microorganisms in order to investigate evolutionary processes. These evolutionary studies of bacteria and other microorganisms gained some recognition from the standard-bearers of the modern synthesis of evolutionary biology, especially Theodosius Dobzhansky and Ledyard Stebbins. A further period of post-synthesis bacterial evolutionary research occurred between the 1950s and 1980s. These experimental analyses focused on the evolution of population and genetic structure, the adaptive gain of new functions, and the evolutionary consequences of competition dynamics. This large body of research aimed to make evolutionary theory testable and predictive, by giving it mechanistic underpinnings. Although evolutionary microbiologists promoted bacterial experiments as methodologically advantageous and a source of general insight into evolution, they also acknowledged the biological differences of bacteria. My historical overview concludes with reflections on what bacterial evolutionary research achieved in this period, and its implications for the still-developing modern synthesis.}, }
@article {pmid28968595, year = {2017}, author = {}, title = {Ingemar Gustavsson (1938-2016).}, journal = {Cytogenetic and genome research}, volume = {152}, number = {4}, pages = {167-168}, doi = {10.1159/000480744}, pmid = {28968595}, issn = {1424-859X}, mesh = {Animals ; Breeding/history ; Cytogenetics/*history ; Female ; History, 20th Century ; History, 21st Century ; Livestock/genetics ; Male ; Sweden ; Veterinary Medicine/*history ; }, }
@article {pmid28950406, year = {2018}, author = {Harel, T and Lupski, JR}, title = {Genomic disorders 20 years on-mechanisms for clinical manifestations.}, journal = {Clinical genetics}, volume = {93}, number = {3}, pages = {439-449}, doi = {10.1111/cge.13146}, pmid = {28950406}, issn = {1399-0004}, mesh = {DNA Copy Number Variations ; *Genetic Association Studies ; Genetic Diseases, Inborn/diagnosis/*genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genome, Human ; Genomic Instability ; *Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; }, abstract = {Genomic disorders result from copy-number variants (CNVs) or submicroscopic rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse technologies, including array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) microarrays, and more recently, whole genome sequencing and whole-exome sequencing, have enabled robust genome-wide unbiased detection of CNVs in affected individuals and in reportedly healthy controls. Sequencing of breakpoint junctions has allowed for elucidation of upstream mechanisms leading to genomic instability and resultant structural variation, whereas studies of the association between CNVs and specific diseases or susceptibility to morbid traits have enhanced our understanding of the downstream effects. In this review, we discuss the hallmarks of genomic disorders as they were defined during the first decade of the field, including genomic instability and the mechanism for rearrangement defined as nonallelic homologous recombination (NAHR); recurrent vs nonrecurrent rearrangements; and gene dosage sensitivity. Moreover, we highlight the exciting advances of the second decade of this field, including a deeper understanding of genomic instability and the mechanisms underlying complex rearrangements, mechanisms for constitutional and somatic chromosomal rearrangements, structural intra-species polymorphisms and susceptibility to NAHR, the role of CNVs in the context of genome-wide copy number and single nucleotide variation, and the contribution of noncoding CNVs to human disease.}, }
@article {pmid28947653, year = {2017}, author = {Heard, E and Brockdorff, N}, title = {Preface.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {372}, number = {1733}, pages = {}, pmid = {28947653}, issn = {1471-2970}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mammals/*genetics/growth &amp; development ; Mice ; United Kingdom ; *X Chromosome Inactivation ; }, }
@article {pmid28888231, year = {2017}, author = {}, title = {Preface to glyco-neuroscience.}, journal = {Biochimica et biophysica acta. General subjects}, volume = {1861}, number = {10}, pages = {2417-2419}, doi = {10.1016/j.bbagen.2017.08.009}, pmid = {28888231}, issn = {0304-4165}, mesh = {Animals ; Central Nervous System/*metabolism/physiology/physiopathology ; Glycolipids/chemistry/*metabolism ; Glycomics/*history/methods ; Glycosaminoglycans/chemistry/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Neuronal Plasticity/physiology ; Neurosciences/*history/methods ; Synaptic Transmission/physiology ; Workforce ; }, }
@article {pmid28886375, year = {2017}, author = {Chomet, P and Martienssen, R}, title = {Barbara McClintock's Final Years as Nobelist and Mentor: A Memoir.}, journal = {Cell}, volume = {170}, number = {6}, pages = {1049-1054}, doi = {10.1016/j.cell.2017.08.040}, pmid = {28886375}, issn = {1097-4172}, support = {R01 GM067014/GM/NIGMS NIH HHS/United States ; }, mesh = {*DNA Transposable Elements ; Genes, Plant ; Genetics/*education/history ; History, 20th Century ; Nobel Prize ; Physiology/history ; Zea mays/genetics ; }, abstract = {September 2, 2017, marks the 25th year after the passing of Dr. Barbara McClintock, geneticist and recipient of the 1983 Nobel Prize in Physiology or Medicine for her discovery of transposable elements in maize. This memoir focuses on the last years of her life-after the prize-and includes personal recollections of how she mentored young scientists and inspired the age of genetics, epigenetics, and genomics.}, }
@article {pmid28876334, year = {2018}, author = {Leitzmann, C}, title = {Whole new concepts of nutrition.}, journal = {European journal of clinical nutrition}, volume = {72}, number = {1}, pages = {1-3}, pmid = {28876334}, issn = {1476-5640}, mesh = {Animals ; Biochemistry/education/*history ; Chemistry/education/history ; Conservation of Natural Resources/history/trends ; Diet, Healthy/*history/trends ; Germany ; Healthy Lifestyle ; History, 20th Century ; History, 21st Century ; Humans ; Malnutrition/*history/prevention &amp; control/therapy ; Molecular Biology/education/history ; Nutritional Sciences/education/*history ; Organic Agriculture/history/trends ; United States ; }, }
@article {pmid28874451, year = {2017}, author = {Zhang, H and Chen, W and Sun, K}, title = {Mendelism: New Insights from Gregor Mendel's Lectures in Brno.}, journal = {Genetics}, volume = {207}, number = {1}, pages = {1-8}, pmid = {28874451}, issn = {1943-2631}, mesh = {Austria-Hungary ; Congresses as Topic/history ; Genetics/*history ; History, 19th Century ; Peas/genetics ; Periodicals as Topic/*history ; Societies, Scientific/history ; }, abstract = {Interpretation of Gregor Mendel's work has previously been based on study of his published paper &quot;Experiments in Plant Hybridization.&quot; In contrast, the lectures that he gave preceding publication of this work have been largely neglected for more than 150 years. Here, we report on and interpret the content of Mendel's previous two lectures, as they were reported in a local newspaper. We comprehensively reference both the text of his paper and the historical background of his experiments. Our analysis shows that while Mendel had inherited the traditional research program on interspecific hybridization in plants, he introduced the novel method of ratio analysis for representing the variation of unit-characters among offspring of hybrids. His aim was to characterize and explain the developmental features of the distributional pattern of unit-characters in two series of hybrid experiments, using self-crosses and backcrosses with parents. In doing so, he not only answered the question of what the unit-characters were and the nature of their hierarchical classification, but also successfully inferred the numerical principle of unit-character transmission from generation to generation. He also established the nature of the composition and behaviors of reproductive cells from one generation to the next. Here we highlight the evidence from Mendel's lectures, clearly announcing that he had discovered the general law of cross-generation transmission of unit-characters through reproductive cells containing unit-factors. The recovered content of these previous lectures more accurately describes the work he performed with his garden peas than his published paper and shows how he first presented it in Brno. It is thus an invaluable resource for understanding the origin of the science of genetics.}, }
@article {pmid28863441, year = {2017}, author = {}, title = {Dr Fauconnier talks to genomics expert, Prof. McCarthy.}, journal = {Cardiovascular research}, volume = {113}, number = {8}, pages = {e26}, doi = {10.1093/cvr/cvx102}, pmid = {28863441}, issn = {1755-3245}, mesh = {Animals ; Diabetes Mellitus, Type 2/genetics/*history ; Genetic Predisposition to Disease ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Translational Medical Research/*history ; }, }
@article {pmid28795350, year = {2017}, author = {Peterson, EL}, title = {'So far like the present period': a reply to '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 = {19}, doi = {10.1007/s40656-017-0145-2}, pmid = {28795350}, issn = {0391-9714}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; *Models, Genetic ; Phenotype ; Systems Biology ; }, }
@article {pmid28794693, year = {2018}, author = {Harper, PS}, title = {Human genetics in troubled times and places.}, journal = {Hereditas}, volume = {155}, number = {}, pages = {7}, pmid = {28794693}, issn = {1601-5223}, mesh = {Communism ; Eugenics ; Europe ; Genetics, Medical/*history ; Germany ; History, 20th Century ; Humans ; National Socialism ; Russia ; Warfare ; }, abstract = {The development of human genetics world-wide during the twentieth century, especially across Europe, has occurred against a background of repeated catastrophes, including two world wars and the ideological problems and repression posed by Nazism and Communism. The published scientific literature gives few hints of these problems and there is a danger that they will be forgotten. The First World War was largely indiscriminate in its carnage, but World War 2 and the preceding years of fascism were associated with widespread migration, especially of Jewish workers expelled from Germany, and of their children, a number of whom would become major contributors to the post-war generation of human and medical geneticists in Britain and America. In Germany itself, eminent geneticists were also involved in the abuses carried out in the name of 'eugenics' and 'race biology'. However, geneticists in America, Britain and the rest of Europe were largely responsible for the ideological foundations of these abuses. In the Soviet Union, geneticists and genetics itself became the object of persecution from the 1930s till as late as the mid 1960s, with an almost complete destruction of the field during this time; this extended also to Eastern Europe and China as part of the influence of Russian communism. Most recently, at the end of the twentieth century, China saw a renewal of government sponsored eugenics programmes, now mostly discarded. During the post-world war 2 decades, human genetics research benefited greatly from recognition of the genetic dangers posed by exposure to radiation, following the atomic bomb explosions in Japan, atmospheric testing and successive accidental nuclear disasters in Russia. Documenting and remembering these traumatic events, now largely forgotten among younger workers, is essential if we are to fully understand the history of human genetics and avoid the repetition of similar disasters in the future. The power of modern human genetic and genomic techniques now gives a greater potential for abuse as well as for beneficial use than has ever been seen in the past.}, }
@article {pmid28792402, year = {2017}, author = {Lane, R}, title = {Fowzan Alkuraya: leading light in Saudi Human Genome Program.}, journal = {Lancet (London, England)}, volume = {390}, number = {10093}, pages = {446}, doi = {10.1016/S0140-6736(17)31908-6}, pmid = {28792402}, issn = {1474-547X}, mesh = {Genetic Diseases, Inborn/genetics/history ; *Genome, Human ; Genomics/*history ; History, 21st Century ; Humans ; Portraits as Topic ; Saudi Arabia ; }, }
@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 {pmid28784780, year = {2017}, author = {Griswold, A}, title = {Profile of Nahum Sonenberg.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {34}, pages = {8905-8907}, pmid = {28784780}, issn = {1091-6490}, mesh = {Biochemistry/*history ; Canada ; History, 20th Century ; History, 21st Century ; Molecular Biology/history ; }, }
@article {pmid28763078, year = {2017}, author = {García-Sáinz, JA}, title = {[Conference Dr. Ignacio Chávez. Moving towards molecular medicine].}, journal = {Gaceta medica de Mexico}, volume = {153}, number = {3}, pages = {379-382}, pmid = {28763078}, issn = {0016-3813}, mesh = {History, 20th Century ; Humans ; Mexico ; Molecular Medicine/history/*trends ; }, abstract = {El solo nombre del Dr. Ignacio Chávez y la calidad académica de los que me han precedido me hacen sentir emocionado, consciente de que me encuentro sobre los hombros de grandes aportadores a nuestra medicina.}, }
@article {pmid28755204, year = {2017}, author = {Yan, W and Huang, B and Ruan, L and Tan, W}, title = {Dr. Chi-Ming Chu: Respected founder of molecular virology and pioneer of biologicals in China.}, journal = {Protein &amp; cell}, volume = {8}, number = {9}, pages = {629-633}, pmid = {28755204}, issn = {1674-8018}, mesh = {China ; Hepatitis B virus/immunology ; History, 20th Century ; Humans ; Molecular Biology/*history ; Orthomyxoviridae/immunology ; Viral Vaccines/*immunology ; Virology/*history ; }, }
@article {pmid28753598, year = {2017}, author = {Marx, V}, title = {Genetics: new tales from ancient DNA.}, journal = {Nature methods}, volume = {14}, number = {8}, pages = {771-774}, pmid = {28753598}, issn = {1548-7105}, mesh = {DNA, Ancient/*isolation &amp; purification ; Fossils ; *Genetics, Population/history/methods ; *Genome, Human ; History, Ancient ; Humans ; }, }
@article {pmid28744655, year = {2018}, author = {de Chadarevian, S}, title = {Whose Turn? Chromosome Research and the Study of the Human Genome.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {631-655}, doi = {10.1007/s10739-017-9486-7}, pmid = {28744655}, issn = {1573-0387}, support = {1534814//National Science Foundation (US)/International ; }, mesh = {Chromosomes, Human/*genetics ; *Genome, Human ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Molecular Biology/*history ; }, abstract = {A common account sees the human genome sequencing project of the 1990s as a &quot;natural outgrowth&quot; of the deciphering of the double helical structure of DNA in the 1950s. The essay aims to complicate this neat narrative by putting the spotlight on the field of human chromosome research that flourished at the same time as molecular biology. It suggests that we need to consider both endeavors - the human cytogeneticists who collected samples and looked down the microscope and the molecular biologists who probed the molecular mechanisms of gene function - to understand the rise of the human genome sequencing project and the current genomic practices. In particular, it proposes that what has often been described as the &quot;molecularization&quot; of cytogenetics could equally well be viewed as the turn of molecular biologists to human and medical genetics - a field long occupied by cytogeneticists. These considerations also have implications for the archives that are constructed for future historians and policy makers.}, }
@article {pmid28713021, year = {2017}, author = {Szymanski, M and Barciszewski, J}, title = {The path to the genetic code.}, journal = {Biochimica et biophysica acta. General subjects}, volume = {1861}, number = {11 Pt A}, pages = {2674-2679}, doi = {10.1016/j.bbagen.2017.07.009}, pmid = {28713021}, issn = {0304-4165}, mesh = {Amino Acid Sequence/genetics ; Genetic Code/*genetics ; Genetics/*history ; History, 20th Century ; Humans ; Proteins/*genetics ; }, abstract = {In December of 1966 the last nucleotide triplet in the genetic code has been assigned (Brenner et al., 1967 [1]) thus completing years of studies aimed at deciphering the nature of the relationship between the sequences of genes and proteins. The end product, the table of the genetic code, was a crowning achievement of the quest to unravel the basic mechanisms underlying functioning of all living organisms on the molecular level.}, }
@article {pmid28707870, year = {2016}, author = {Wood, RJ}, title = {News of the Profession: Eloge.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {107}, number = {3}, pages = {597-600}, doi = {10.1086/688393}, pmid = {28707870}, issn = {0021-1753}, mesh = {Czech Republic ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Natural Science Disciplines/history ; Science/*history ; }, }
@article {pmid28669541, year = {2018}, author = {Rose, NC and Wick, M}, title = {Carrier screening for single gene disorders.}, journal = {Seminars in fetal &amp; neonatal medicine}, volume = {23}, number = {2}, pages = {78-84}, doi = {10.1016/j.siny.2017.06.001}, pmid = {28669541}, issn = {1878-0946}, support = {P20 HG007249/HG/NHGRI NIH HHS/United States ; }, mesh = {Family Health/ethnology ; Female ; Founder Effect ; Genetic Carrier Screening/*history/methods/trends ; Genetic Counseling/history/trends ; Genetic Diseases, Inborn/*diagnosis/ethnology/genetics/history ; Health Services Accessibility/history ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Male ; *Models, Genetic ; *Mutation ; Neonatal Screening/*methods/trends ; Preconception Care/methods/trends ; Prenatal Diagnosis/*methods/trends ; Whole Exome Sequencing ; }, abstract = {Screening for genetic disorders began in 1963 with the initiation of newborn screening for phenylketonuria. Advances in molecular technology have made both newborn screening for newborns affected with serious disorders, and carrier screening of individuals at risk for offspring with genetic disorders, more complex and more widely available. Carrier screening today can be performed secondary to family history-based screening, ethnic-based screening, and expanded carrier screening (ECS). ECS is panel-based screening, which analyzes carrier status for hundreds of genetic disorders irrespective of patient race or ethnicity. In this article, we review the historical and current aspects of carrier screening for single gene disorders, including future research directions.}, }
@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 {pmid28625999, year = {2017}, author = {Casadio, M}, title = {Andrea Ventura: Decrypting noncoding RNAs.}, journal = {The Journal of cell biology}, volume = {216}, number = {7}, pages = {1866-1867}, pmid = {28625999}, issn = {1540-8140}, mesh = {Biomedical Research/*history ; Career Choice ; Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nucleic Acid Conformation ; RNA, Untranslated/chemistry/genetics/*history/metabolism ; Structure-Activity Relationship ; }, abstract = {Ventura explores the biological functions of noncoding RNAs in cancer and development.}, }
@article {pmid28621497, year = {2017}, author = {Hinderlich, S and Tauber, R and Bertozzi, CR and Hackenberger, CPR}, title = {Werner Reutter: A Visionary Pioneer in Molecular Glycobiology.}, journal = {Chembiochem : a European journal of chemical biology}, volume = {18}, number = {13}, pages = {1141-1145}, doi = {10.1002/cbic.201700277}, pmid = {28621497}, issn = {1439-7633}, mesh = {Carbohydrate Metabolism/genetics ; *Glycomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Metabolic Engineering/history/methods ; *Molecular Biology/history/methods ; Sialic Acids/genetics/metabolism ; Workforce ; }, abstract = {A creative pioneer: Werner Reutter (1937-2016) was a scientist who both made fundamental discoveries in glycobiology and reached out to disciplines beyond his core field. Many of his former colleagues and students will remember his desire to exchange research ideas, which ultimately contributed to the birth of new research fields.}, }
@article {pmid28619099, year = {2017}, author = {Zhang, C and Lu, Y and Feng, Q and Wang, X and Lou, H and Liu, J and Ning, Z and Yuan, K and Wang, Y and Zhou, Y and Deng, L and Liu, L and Yang, Y and Li, S and Ma, L and Zhang, Z and Jin, L and Su, B and Kang, L and Xu, S}, title = {Differentiated demographic histories and local adaptations between Sherpas and Tibetans.}, journal = {Genome biology}, volume = {18}, number = {1}, pages = {115}, pmid = {28619099}, issn = {1474-760X}, mesh = {Acclimatization/*genetics ; Adaptation, Physiological/*genetics ; Altitude ; Altitude Sickness/*genetics ; Asian Continental Ancestry Group/genetics ; Ethnic Groups/genetics ; *Genetic Variation ; Genetics, Population/history ; Genotype ; Haplotypes/genetics ; History, Ancient ; Humans ; Tibet ; }, abstract = {BACKGROUND: The genetic relationships reported by recent studies between Sherpas and Tibetans are controversial. To gain insights into the population history and the genetic basis of high-altitude adaptation of the two groups, we analyzed genome-wide data in 111 Sherpas (Tibet and Nepal) and 177 Tibetans (Tibet and Qinghai), together with available data from present-day human populations.<br><br>RESULTS: Sherpas and Tibetans show considerable genetic differences and can be distinguished as two distinct groups, even though the divergence between them (~3200-11,300 years ago) is much later than that between Han Chinese and either of the two groups (~6200-16,000 years ago). Sub-population structures exist in both Sherpas and Tibetans, corresponding to geographical or linguistic groups. Differentiation of genetic variants between Sherpas and Tibetans associated with adaptation to either high-altitude or ultraviolet radiation were identified and validated by genotyping additional Sherpa and Tibetan samples.<br><br>CONCLUSIONS: Our analyses indicate that both Sherpas and Tibetans are admixed populations, but the findings do not support the previous hypothesis that Tibetans derive their ancestry from Sherpas and Han Chinese. Compared to Tibetans, Sherpas show higher levels of South Asian ancestry, while Tibetans show higher levels of East Asian and Central Asian/Siberian ancestry. We propose a new model to elucidate the differentiated demographic histories and local adaptations of Sherpas and Tibetans.}, }
@article {pmid28615365, year = {2018}, author = {Bossé, Y and Amos, CI}, title = {A Decade of GWAS Results in Lung Cancer.}, journal = {Cancer epidemiology, biomarkers &amp; prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology}, volume = {27}, number = {4}, pages = {363-379}, doi = {10.1158/1055-9965.EPI-16-0794}, pmid = {28615365}, issn = {1538-7755}, support = {U19 CA203654/CA/NCI NIH HHS/United States ; }, mesh = {Datasets as Topic ; Genetic Loci ; *Genetic Predisposition to Disease ; Genome-Wide Association Study/*history ; Genomics/history/*methods ; History, 21st Century ; Humans ; Lung Neoplasms/*genetics/mortality/therapy ; Polymorphism, Single Nucleotide ; Precision Medicine/methods ; Smoking ; }, abstract = {Genome-wide association studies (GWAS) were successful to identify genetic factors robustly associated with lung cancer. This review aims to synthesize the literature in this field and accelerate the translation of GWAS discoveries into results that are closer to clinical applications. A chronologic presentation of published GWAS on lung cancer susceptibility, survival, and response to treatment is presented. The most important results are tabulated to provide a concise overview in one read. GWAS have reported 45 lung cancer susceptibility loci with varying strength of evidence and highlighted suspected causal genes at each locus. Some genetic risk loci have been refined to more homogeneous subgroups of lung cancer patients in terms of histologic subtypes, smoking status, gender, and ethnicity. Overall, these discoveries are an important step for future development of new therapeutic targets and biomarkers to personalize and improve the quality of care for patients. GWAS results are on the edge of offering new tools for targeted screening in high-risk individuals, but more research is needed if GWAS are to pay off the investment. Complementary genomic datasets and functional studies are needed to refine the underlying molecular mechanisms of lung cancer preliminarily revealed by GWAS and reach results that are medically actionable. Cancer Epidemiol Biomarkers Prev; 27(4); 363-79. ©2018 AACRSee all articles in this CEBP Focus section, &quot;Genome-Wide Association Studies in Cancer.&quot;}, }
@article {pmid28600396, year = {2017}, author = {Rosbash, M}, title = {A 50-Year Personal Journey: Location, Gene Expression, and Circadian Rhythms.}, journal = {Cold Spring Harbor perspectives in biology}, volume = {9}, number = {12}, pages = {}, pmid = {28600396}, issn = {1943-0264}, mesh = {Animals ; *Circadian Rhythm ; Cloning, Molecular ; DNA, Recombinant/genetics ; Gene Expression ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Massachusetts ; Molecular Biology/*history ; Universities ; }, abstract = {I worked almost exclusively on nucleic acids and gene expression from the age of 19 as an undergraduate until the age of 38 as an associate professor. Mentors featured prominently in my choice of paths. My friendship with influential Brandeis colleagues then persuaded me that genetics was an important tool for studying gene expression, and I switched my experimental organism to yeast for this reason. Several years later, friendship also played a prominent role in my beginning work on circadian rhythms. As luck would have it, gene expression as well as genetics turned out to be important for circadian timekeeping. As a consequence, background and training put my laboratory in an excellent position to contribute to this aspect of the circadian problem. The moral of the story is, as in real estate, &quot;location, location, location.&quot;}, }
@article {pmid28592501, year = {2017}, author = {Strauss, BS}, title = {A Physicist's Quest in Biology: Max Delbrück and &quot;Complementarity&quot;.}, journal = {Genetics}, volume = {206}, number = {2}, pages = {641-650}, pmid = {28592501}, issn = {1943-2631}, mesh = {DNA Replication/*genetics ; History, 20th Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; Science/*history ; }, abstract = {Max Delbrück was trained as a physicist but made his major contribution in biology and ultimately shared a Nobel Prize in Physiology or Medicine. He was the acknowledged leader of the founders of molecular biology, yet he failed to achieve his key scientific goals. His ultimate scientific aim was to find evidence for physical laws unique to biology: so-called &quot;complementarity.&quot; He never did. The specific problem he initially wanted to solve was the nature of biological replication but the discovery of the mechanism of replication was made by others, in large part because of his disdain for the details of biochemistry. His later career was spent investigating the effect of light on the fungus Phycomyces, a topic that turned out to be of limited general interest. He was known both for his informality but also for his legendary displays of devastating criticism. His life and that of some of his closest colleagues was acted out against a background of a world in conflict. This essay describes the man and his career and searches for an explanation of his profound influence.}, }
@article {pmid28581505, year = {2017}, author = {Barrangou, R and Horvath, P}, title = {A decade of discovery: CRISPR functions and applications.}, journal = {Nature microbiology}, volume = {2}, number = {}, pages = {17092}, pmid = {28581505}, issn = {2058-5276}, mesh = {Archaea/enzymology/genetics ; Bacteria/*enzymology/*genetics ; *CRISPR-Cas Systems ; Gene Editing/history/*methods ; History, 21st Century ; Molecular Biology/history/methods ; }, abstract = {This year marks the tenth anniversary of the identification of the biological function of CRISPR-Cas as adaptive immune systems in bacteria. In just a decade, the characterization of CRISPR-Cas systems has established a novel means of adaptive immunity in bacteria and archaea and deepened our understanding of the interplay between prokaryotes and their environment, and CRISPR-based molecular machines have been repurposed to enable a genome editing revolution. Here, we look back on the historical milestones that have paved the way for the discovery of CRISPR and its function, and discuss the related technological applications that have emerged, with a focus on microbiology. Lastly, we provide a perspective on the impacts the field has had on science and beyond.}, }
@article {pmid28569346, year = {2017}, author = {Jost, J}, title = {Relations and dependencies between morphological characters.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {136}, number = {1-2}, pages = {69-83}, pmid = {28569346}, issn = {1611-7530}, mesh = {Algorithms ; Animals ; *Biological Evolution ; Biology/history ; Classification ; Developmental Biology/*history/methods ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Metamorphosis, Biological ; Models, Theoretical ; Phylogeny ; Plant Physiological Phenomena ; }, abstract = {In biological classification, a character is a property of a taxon that can distinguish it from other taxa. Characters are not independent, and the relations between characters can arise from structural constraints, developmental pathways or functional constraints. That has lead to famous controversies in the history of biology. In addition, a character as a tool of data analysis has some subjective aspects. In this contribution, I develop algebraic and geometric schemes to address these issues in a mathematical framework.}, }
@article {pmid28548882, year = {2017}, author = {Skalka, AMA}, title = {Finding, Conducting, and Nurturing Science: A Virologist's Memoir.}, journal = {Annual review of virology}, volume = {4}, number = {1}, pages = {1-35}, doi = {10.1146/annurev-virology-101416-042011}, pmid = {28548882}, issn = {2327-0578}, mesh = {Bacteriophages/genetics ; Biochemistry/*history ; Biomedical Research ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA-Directed DNA Polymerase ; Recombination, Genetic/genetics ; Retroviridae ; United States ; Virology/*history ; }, abstract = {My laboratory investigations have been driven by an abiding interest in understanding the consequences of genetic rearrangement in evolution and disease, and in using viruses to elucidate fundamental mechanisms in biology. Starting with bacteriophages and moving to the retroviruses, my use of the tools of genetics, molecular biology, biochemistry, and biophysics has spanned more than half a century-from the time when DNA structure was just discovered to the present day of big data and epigenetics. Both riding and contributing to the successive waves of technology, my laboratory has elucidated fundamental mechanisms in DNA replication, repair, and recombination. We have made substantial contributions in the area of retroviral oncogenesis, delineated mechanisms that control retroviral gene expression, and elucidated critical details of the structure and function of the retroviral enzymes-reverse transcriptase, protease, and integrase-and have had the satisfaction of knowing that the fundamental knowledge gained from these studies contributed important groundwork for the eventual development of antiviral drugs to treat AIDS. While pursuing laboratory research as a principal investigator, I have also been a science administrator-moving from laboratory head to department chair and, finally, to institute director. In addition, I have undertaken a number of community service, science-related &quot;extracurricular&quot; activities during this time. Filling all of these roles, while being a wife and mother, has required family love and support, creative management, and, above all, personal flexibility-with not too much long-term planning. I hope that this description of my journey, with various roles, obstacles, and successes, will be both interesting and informative, especially to young female scientists.}, }
@article {pmid28544016, year = {2018}, author = {Singh, V and Gohil, N and Ramírez García, R and Braddick, D and Fofié, CK}, title = {Recent Advances in CRISPR-Cas9 Genome Editing Technology for Biological and Biomedical Investigations.}, journal = {Journal of cellular biochemistry}, volume = {119}, number = {1}, pages = {81-94}, doi = {10.1002/jcb.26165}, pmid = {28544016}, issn = {1097-4644}, mesh = {Animals ; Bacterial Infections/therapy ; *CRISPR-Cas Systems ; *Gene Editing ; Genetics, Microbial/history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; Models, Animal ; Neoplasms/therapy ; Therapeutics ; Virus Diseases/therapy ; }, abstract = {The Type II CRISPR-Cas9 system is a simple, efficient, and versatile tool for targeted genome editing in a wide range of organisms and cell types. It continues to gain more scientific interest and has established itself as an extremely powerful technology within our synthetic biology toolkit. It works upon a targeted site and generates a double strand breaks that become repaired by either the NHEJ or the HDR pathway, modifying or permanently replacing the genomic target sequences of interest. These can include viral targets, single-mutation genetic diseases, and multiple-site corrections for wide scale disease states, offering the potential to manage and cure some of mankind's most persistent biomedical menaces. Here, we present the developing progress and future potential of CRISPR-Cas9 in biological and biomedical investigations, toward numerous therapeutic, biomedical, and biotechnological applications, as well as some of the challenges within. J. Cell. Biochem. 119: 81-94, 2018. © 2017 Wiley Periodicals, Inc.}, }
@article {pmid28538703, year = {2017}, author = {Hayes, S and Mahony, J and Nauta, A and van Sinderen, D}, title = {Metagenomic Approaches to Assess Bacteriophages in Various Environmental Niches.}, journal = {Viruses}, volume = {9}, number = {6}, pages = {}, pmid = {28538703}, issn = {1999-4915}, mesh = {Bacteriophages/*classification/genetics/*isolation &amp; purification ; *Environmental Microbiology ; History, 20th Century ; History, 21st Century ; Metagenomics/history/*methods ; }, abstract = {Bacteriophages are ubiquitous and numerous parasites of bacteria and play a critical evolutionary role in virtually every ecosystem, yet our understanding of the extent of the diversity and role of phages remains inadequate for many ecological niches, particularly in cases in which the host is unculturable. During the past 15 years, the emergence of the field of viral metagenomics has drastically enhanced our ability to analyse the so-called viral 'dark matter' of the biosphere. Here, we review the evolution of viral metagenomic methodologies, as well as providing an overview of some of the most significant applications and findings in this field of research.}, }
@article {pmid28531294, year = {2017}, author = {Kanagawa, M and Manya, H}, title = {Tatsushi Toda and Tamao Endo win 107th Japan Academy Prize.}, journal = {Glycobiology}, volume = {27}, number = {7}, pages = {599-600}, doi = {10.1093/glycob/cwx040}, pmid = {28531294}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid28520471, year = {2017}, author = {Pigeard-Micault, N and Gachelin, G}, title = {.}, journal = {Canadian bulletin of medical history = Bulletin canadien d'histoire de la medecine}, volume = {34}, number = {2}, pages = {465-495}, doi = {10.3138/cbmh.193-012017}, pmid = {28520471}, issn = {0823-2105}, mesh = {Genetic Predisposition to Disease ; Genetics/history ; History, 20th Century ; Neoplasms/*genetics ; }, }
@article {pmid28513845, year = {2017}, author = {Sancar, A}, title = {Claud S. Rupert (1919-2017): The Father of DNA Repair.}, journal = {Photochemistry and photobiology}, volume = {93}, number = {4}, pages = {1133-1134}, doi = {10.1111/php.12792}, pmid = {28513845}, issn = {1751-1097}, support = {R35 GM118102/GM/NIGMS NIH HHS/United States ; }, mesh = {*DNA Repair ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid28508484, year = {2017}, author = {Simianer, H and Rosa, GJM and Mäki-Tanila, A}, title = {Special Issue: Quantitative and statistical genetics-papers in honour of Daniel Gianola.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {134}, number = {3}, pages = {173-174}, doi = {10.1111/jbg.12279}, pmid = {28508484}, issn = {1439-0388}, mesh = {Animals ; Breeding ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Genetic ; Models, Statistical ; United States ; }, }
@article {pmid28501586, year = {2017}, author = {Cramer, P}, title = {Structural Molecular Biology-A Personal Reflection on the Occasion of John Kendrew's 100th Birthday.}, journal = {Journal of molecular biology}, volume = {429}, number = {17}, pages = {2603-2610}, doi = {10.1016/j.jmb.2017.05.007}, pmid = {28501586}, issn = {1089-8638}, mesh = {Cryoelectron Microscopy/history/*methods ; Crystallography, X-Ray/history/*methods ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/*methods ; Protein Conformation ; RNA Polymerase II/*chemistry/*metabolism ; *Transcription, Genetic ; }, abstract = {Here, I discuss the development and future of structural molecular biology, concentrating on the eukaryotic transcription machinery and reflecting on John Kendrew's legacy from a personal perspective.}, }
@article {pmid28495283, year = {2017}, author = {Virasami, A and Farndon, SJ and McDermott, U and Sebire, N and Behjati, S}, title = {Molecular diagnoses of century-old childhood tumours.}, journal = {The Lancet. Oncology}, volume = {18}, number = {5}, pages = {e237}, doi = {10.1016/S1470-2045(17)30226-7}, pmid = {28495283}, issn = {1474-5488}, mesh = {Biomarkers, Tumor/*genetics/history ; Biopsy ; DNA Mutational Analysis ; High-Throughput Nucleotide Sequencing ; History, 20th Century ; *Hospitals, Pediatric/history ; Humans ; London ; *Mutation ; Neoplasms/*genetics/history/pathology ; Paraffin Embedding ; Pathology, Molecular/history/*methods ; Tissue Fixation ; }, }
@article {pmid28493906, year = {2017}, author = {Vahia, MN and Yadav, N and Ladiwala, U and Mathur, D}, title = {A diffusion based study of population dynamics: Prehistoric migrations into South Asia.}, journal = {PloS one}, volume = {12}, number = {5}, pages = {e0176985}, pmid = {28493906}, issn = {1932-6203}, mesh = {Asia ; Asian Continental Ancestry Group/genetics/history ; Computer Simulation ; Emigration and Immigration/history ; Genetics, Population/history ; History, Ancient ; Humans ; Population Dynamics/*history ; }, abstract = {A diffusion equation has been used to study migration of early humans into the South Asian subcontinent. The diffusion equation is tempered by a set of parameters that account for geographical features like proximity to water resources, altitude, and flatness of land. The ensuing diffusion of populations is followed in time-dependent computer simulations carried out over a period of 10,000 YBP. The geographical parameters are determined from readily-available satellite data. The results of our computer simulations are compared to recent genetic data so as to better correlate the migratory patterns of various populations; they suggest that the initial populations started to coalesce around 4,000 YBP before the commencement of a period of relative geographical isolation of each population group. The period during which coalescence of populations occurred appears consistent with the established timeline associated with the Harappan civilization and also, with genetic admixing that recent genetic mapping data reveal. Our results may contribute to providing a timeline for the movement of prehistoric people. Most significantly, our results appear to suggest that the Ancestral Austro-Asiatic population entered the subcontinent through an easterly direction, potentially resolving a hitherto-contentious issue.}, }
@article {pmid28476859, year = {2017}, author = {Goldman, IL}, title = {William Friedman, Geneticist Turned Cryptographer.}, journal = {Genetics}, volume = {206}, number = {1}, pages = {1-8}, pmid = {28476859}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {William Friedman (1891-1969), trained as a plant geneticist at Cornell University, was employed at Riverbank Laboratories by the eccentric millionaire George Fabyan to work on wheat breeding. Friedman, however, soon became intrigued by and started working on a pet project of Fabyan's involving the conjecture that Francis Bacon, a polymath known for the study of ciphers, was the real author of Shakespeare's plays. Thus, beginning in ∼1916, Friedman turned his attention to the so called &quot;Baconian cipher,&quot; and developed decryption techniques that bore similarity to approaches for solving problems in population genetics. His most significant, indeed pathbreaking, work used ideas from genetics and statistics, focusing on analysis of the frequencies of letters in language use. Although he had transitioned from being a geneticist to a cryptographer, his earlier work had resonance in his later pursuits. He soon began working directly for the United States government and produced solutions used to solve complex military ciphers, in particular to break the Japanese Purple code during World War II. Another important legacy of his work was the establishment of the Signal Intelligence Service and eventually the National Security Agency.}, }
@article {pmid28476632, year = {2017}, author = {Clarage, J}, title = {The fuzzy image.}, journal = {Journal of structural biology}, volume = {200}, number = {3}, pages = {204-212}, doi = {10.1016/j.jsb.2017.04.010}, pmid = {28476632}, issn = {1095-8657}, mesh = {History, 20th Century ; Humans ; Molecular Biology/*history ; Paintings ; Proteins/chemistry ; Viruses/*chemistry/metabolism ; X-Ray Diffraction ; }, abstract = {This article celebrates the variety of Don Caspar's research interests, with particular focus on those scientific investigations beyond the structural biology of viruses for which he is often associated. These lesser known, seemingly backwater projects, allow us to build up a portrait, in both word and image, of this prolific and creative scientist. Exploration of his ideas will reveal a close connection to other structural thinkers and artists throughout history, most notably the 17th century astronomer Johannes Kepler.}, }
@article {pmid28470422, year = {2017}, author = {Luft, FC}, title = {Berlin Wild-and the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch.}, journal = {Journal of molecular medicine (Berlin, Germany)}, volume = {95}, number = {6}, pages = {567-570}, pmid = {28470422}, issn = {1432-1440}, mesh = {Academies and Institutes/*history ; Berlin ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid28460027, year = {2017}, author = {Cooper, TG}, title = {Editorial: Saccharomyces riding the waves of technology and transition.}, journal = {FEMS yeast research}, volume = {17}, number = {4}, pages = {}, pmid = {28460027}, issn = {1567-1364}, support = {R01 GM035642/GM/NIGMS NIH HHS/United States ; }, mesh = {Genetics, Microbial/history/*methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/*methods/trends ; Mycology/history/*methods/trends ; Saccharomyces/*genetics/*physiology ; }, }
@article {pmid28439000, year = {2017}, author = {Cooper, L}, title = {Profile of Ian A. Wilson.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {19}, pages = {4848-4850}, pmid = {28439000}, issn = {1091-6490}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid28433537, year = {2017}, author = {Wassarman, PM}, title = {A Personal Perspective: My Four Encounters with John Kendrew.}, journal = {Journal of molecular biology}, volume = {429}, number = {17}, pages = {2594-2600}, doi = {10.1016/j.jmb.2017.04.010}, pmid = {28433537}, issn = {1089-8638}, mesh = {Crystallography, X-Ray/history/*methods ; History, 20th Century ; Molecular Biology/history/*methods ; Proteins/*chemistry ; }, abstract = {By celebrating the 100th anniversary of John Kendrew's birth in 1917, the Journal of Molecular Biology recognizes his seminal contributions to science in general and structural biology in particular. John was first to use X-ray diffraction to solve the 3-dimensional structure of a protein, sperm-whale myoglobin, worthy of a Nobel Prize in Chemistry in 1962. John was the Founder and first Editor-in-Chief of the Journal of Molecular Biology, Deputy Chairman of the Laboratory of Molecular Biology and Head of its Division of Structural Studies, a Founder of the European Molecular Biology Organization, first Director-General of the European Molecular Biology Laboratory, and 33rd President of St. John's College, Oxford. In this personal perspective I relate how I came to know John as his postdoctoral fellow at the Laboratory of Molecular Biology in 1967 and as his biographer 45 years later.}, }
@article {pmid28418759, year = {2017}, author = {Chen, SL}, title = {Virulence profile: Swaine L. Chen.}, journal = {Virulence}, volume = {8}, number = {5}, pages = {494-496}, doi = {10.1080/21505594.2017.1317998}, pmid = {28418759}, issn = {2150-5608}, mesh = {*Computational Biology/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; *Synthetic Biology/history ; Urinary Tract Infections/genetics/microbiology ; Uropathogenic Escherichia coli ; }, }
@article {pmid28416695, year = {2017}, author = {Reed, JC and Druker, BJ}, title = {Peter C. Nowell (1928-2016).}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {18}, pages = {4569-4570}, pmid = {28416695}, issn = {1091-6490}, mesh = {Animals ; Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*genetics/*history ; Portraits as Topic ; }, }
@article {pmid28397645, year = {2017}, author = {Anaya-Muñoz, VH and García-Deister, V and Suárez-Díaz, E}, title = {Flattening and Unpacking Human Genetic Variation in Mexico, Postwar to Present.}, journal = {Science in context}, volume = {30}, number = {1}, pages = {89-112}, doi = {10.1017/S0269889717000047}, pmid = {28397645}, issn = {0269-8897}, mesh = {*Genetic Variation ; Genetics, Population/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Mexico ; }, abstract = {Argument This paper analyzes the research strategies of three different cases in the study of human genetics in Mexico - the work of Rubén Lisker in the 1960s, INMEGEN's mapping of Mexican genomic diversity between 2004 and 2009, and the analysis of Native American variation by Andrés Moreno and his colleagues in contemporary research. We make a distinction between an approach that incorporates multiple disciplinary resources into sampling design and interpretation (unpacking), from one that privileges pragmatic considerations over more robust multidisciplinary analysis (flattening). These choices have consequences for social, demographic, and biomedical practices, and also for accounts of genetic variation in human populations. While the former strategy unpacks fine-grained genetic variation - favoring precision and realism, the latter tends to flatten individual differences and historical depth in lieu of generalization.}, }
@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 &quot;reducible complexity.&quot; 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 {pmid28371429, year = {2017}, author = {Carey, JC and Clark, EB}, title = {Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.}, journal = {American journal of medical genetics. Part A}, volume = {173}, number = {5}, pages = {1143-1144}, doi = {10.1002/ajmg.a.38226}, pmid = {28371429}, issn = {1552-4833}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; Germany ; History, 21st Century ; Humans ; *Peer Review, Research ; }, }
@article {pmid28369360, year = {2016}, author = {Reardon, J and Ankeny, RA and Bangham, J and W Darling, K and Hilgartner, S and Jones, KM and Shapiro, B and Stevens, H and , }, title = {Bermuda 2.0: reflections from Santa Cruz.}, journal = {GigaScience}, volume = {5}, number = {1}, pages = {1-4}, pmid = {28369360}, issn = {2047-217X}, mesh = {Bermuda ; *Genome, Human ; Genomics/*history ; History, 20th Century ; Humans ; *Information Dissemination ; }, abstract = {In February 1996, the genome community met in Bermuda to formulate principles for circulating genomic data. Although it is now 20 years since the Bermuda Principles were formulated, they continue to play a central role in shaping genomic and data-sharing practices. However, since 1996, &quot;openness&quot; has become an increasingly complex issue. This commentary seeks to articulate three core challenges data-sharing faces today.}, }
@article {pmid28360126, year = {2017}, author = {Portin, P and Wilkins, A}, title = {The Evolving Definition of the Term &quot;Gene&quot;.}, 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 &quot;gene,&quot; 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 &quot;classical&quot; and the &quot;neoclassical&quot; periods, and the current molecular-genetic era the &quot;modern period.&quot; While the first two stages generated increasing clarity about the nature of the gene, the present period features complexity and confusion. Initially, the term &quot;gene&quot; was coined to denote an abstract &quot;unit of inheritance,&quot; 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 &quot;unit of inheritance&quot; 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 {pmid28352972, year = {2017}, author = {}, title = {Gerald E. McClearn 1927-2017: A Founding Father of Behavioral Genetics.}, journal = {Behavior genetics}, volume = {47}, number = {3}, pages = {263-264}, doi = {10.1007/s10519-017-9846-2}, pmid = {28352972}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28316285, year = {2017}, author = {Stamhuis, IH and Vogt, AB}, title = {Discipline building in Germany: women and genetics at the Berlin Institute for Heredity Research.}, journal = {British journal for the history of science}, volume = {50}, number = {2}, pages = {267-295}, doi = {10.1017/S0007087417000048}, pmid = {28316285}, issn = {1474-001X}, mesh = {Academies and Institutes/*history/organization &amp; administration ; Berlin ; Female ; Genetics/*history ; Heredity ; Historiography ; History, 20th Century ; Humans ; Research Personnel/*history ; Universities/history ; Women, Working/*history ; }, abstract = {The origin and the development of scientific disciplines has been a topic of reflection for several decades. The few extensive case studies support the thesis that scientific disciplines are not monolithic structures but can be characterized by distinct social, organizational and scientific-technical practices. Nonetheless, most disciplinary histories of genetics confine themselves largely to an uncontested account of the content of the discipline or occasionally institutional factors. Little attention is paid to the large number of researchers who, by their joint efforts, ultimately shaped the discipline. We contribute to this aspect of disciplinary historiography by discussing the role of women researchers at the Institute for Heredity Research, founded in 1914 in Berlin under the directorship of Erwin Baur, and the sister of the John Innes Institute at Cambridge. This paper investigates how and why Baur built a highly successful research programme that relied on the efforts of his female staff, whose careers, notably Elisabeth Schiemann's, are also assessed in toto. These women undertook the necessary 'technoscience' and in some cases innovative work and helped increase the prestige of the institute and its director. Together they played a pivotal role in the establishment of genetics in Germany. Without them the discipline would have developed much more slowly and along a divergent path.}, }
@article {pmid28315468, year = {2017}, author = {Lescai, F and Diderichsen, B and Van Montagu, M and Cole, J}, title = {In memory of Professor Brian Frederic Carl Clark: Contributions from friends.}, journal = {New biotechnology}, volume = {38}, number = {Pt A}, pages = {3-4}, doi = {10.1016/j.nbt.2017.02.005}, pmid = {28315468}, issn = {1876-4347}, mesh = {Advisory Committees ; Biotechnology ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid28301737, year = {2017}, author = {Hall, JG}, title = {The Clinic Is My Laboratory: Life as a Clinical Geneticist.}, journal = {Annual review of genomics and human genetics}, volume = {18}, number = {}, pages = {1-29}, doi = {10.1146/annurev-genom-091416-035213}, pmid = {28301737}, issn = {1545-293X}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, abstract = {Clinical genetics is the application of advances in genetics and medicine to real human families. It involves diagnosis, care, and counseling concerning options available to affected individuals and their family members. Advances in medicine and genetics have led to dramatic changes in the scope and responsibilities of clinical genetics. This reflection on the last 50+ years of clinical genetics comes from personal experience, with an emphasis on the important contributions that clinical geneticists have made to the understanding of disease/disorder processes and mechanisms. The genetics clinic is a research laboratory where major advances in knowledge can and have been made.}, }
@article {pmid28266130, year = {2017}, author = {Resta, RG}, title = {In Memoriam: Laurence E. Karp (1939-2016).}, journal = {American journal of medical genetics. Part A}, volume = {173}, number = {4}, pages = {1007-1008}, doi = {10.1002/ajmg.a.38133}, pmid = {28266130}, issn = {1552-4833}, mesh = {DNA Helicases/*genetics ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257689, year = {2017}, author = {Gartler, SM}, title = {2016 Victor A. McKusick Leadership Award.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {403-405}, doi = {10.1016/j.ajhg.2017.01.010}, pmid = {28257689}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257688, year = {2017}, author = {Jarvik, GP}, title = {2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {401-402}, pmid = {28257688}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Leadership ; }, }
@article {pmid28257687, year = {2017}, author = {Lee, B}, title = {2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {397-400}, pmid = {28257687}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetic Diseases, Inborn/genetics/*therapy ; *Genetic Therapy ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Rare Diseases/genetics/*therapy ; *Translational Medical Research ; }, }
@article {pmid28257686, year = {2017}, author = {Beaudet, AL}, title = {2016 Curt Stern Award Introduction: Brendan Lee.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {395-396}, pmid = {28257686}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257685, year = {2017}, author = {Gusella, JF}, title = {2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {387-394}, pmid = {28257685}, issn = {1537-6605}, support = {R01 NS091161/NS/NINDS NIH HHS/United States ; R01 NS093200/NS/NINDS NIH HHS/United States ; }, mesh = {*Awards and Prizes ; Genetic Therapy/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid28257684, year = {2017}, author = {Nelson, DL}, title = {2016 William Allan Award Introduction: James Gusella.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {385-386}, pmid = {28257684}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetic Research/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257470, year = {2017}, author = {Pollegioni, P and Woeste, K and Chiocchini, F and Del Lungo, S and Ciolfi, M and Olimpieri, I and Tortolano, V and Clark, J and Hemery, GE and Mapelli, S and Malvolti, ME}, title = {Rethinking the history of common walnut (Juglans regia L.) in Europe: Its origins and human interactions.}, journal = {PloS one}, volume = {12}, number = {3}, pages = {e0172541}, pmid = {28257470}, issn = {1932-6203}, mesh = {Asia ; Balkan Peninsula ; Europe ; Fossils ; *Genetic Variation ; Genetics, Population/history/methods ; History, Ancient ; Humans ; Juglans/*genetics/growth &amp; development ; Microsatellite Repeats/*genetics ; Pollen/genetics ; }, abstract = {Common walnut (Juglans regia L) is an economically important species cultivated worldwide for its high-quality wood and nuts. It is generally accepted that after the last glaciation J. regia survived and grew in almost completely isolated stands in Asia, and that ancient humans dispersed walnuts across Asia and into new habitats via trade and cultural expansion. The history of walnut in Europe is a matter of debate, however. In this study, we estimated the genetic diversity and structure of 91 Eurasian walnut populations using 14 neutral microsatellites. By integrating fossil pollen, cultural, and historical data with population genetics, and approximate Bayesian analysis, we reconstructed the demographic history of walnut and its routes of dispersal across Europe. The genetic data confirmed the presence of walnut in glacial refugia in the Balkans and western Europe. We conclude that human-mediated admixture between Anatolian and Balkan walnut germplasm started in the Early Bronze Age, and between western Europe and the Balkans in eastern Europe during the Roman Empire. A population size expansion and subsequent decline in northeastern and western Europe was detected in the last five centuries. The actual distribution of walnut in Europe resulted from the combined effects of expansion/contraction from multiple refugia after the Last Glacial Maximum and its human exploitation over the last 5,000 years.}, }
@article {pmid28254903, year = {2017}, author = {Greene, MI and Moore, JS}, title = {Peter C. Nowell (1928-2016).}, journal = {Science (New York, N.Y.)}, volume = {355}, number = {6328}, pages = {913}, doi = {10.1126/science.aam9738}, pmid = {28254903}, issn = {1095-9203}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*history ; Pathology, Molecular/*history ; Philadelphia ; *Philadelphia Chromosome ; Precision Medicine/history ; }, }
@article {pmid28246089, year = {2017}, author = {Stafford, N}, title = {Herman Vanden Berghe.}, journal = {BMJ (Clinical research ed.)}, volume = {356}, number = {}, pages = {j1056}, doi = {10.1136/bmj.j1056}, pmid = {28246089}, issn = {1756-1833}, mesh = {Belgium ; Education, Medical/*history ; Genetics/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/education/*history ; }, }
@article {pmid30484615, year = {2017}, author = {Blume, YB}, title = {.}, journal = {TSitologiia i genetika}, volume = {51}, number = {2}, pages = {3-8}, pmid = {30484615}, issn = {0564-3783}, mesh = {Cell Biology/education/*history/trends ; Editorial Policies ; Genetics/education/*history/trends ; History, 20th Century ; History, 21st Century ; Humans ; *Periodicals as Topic ; Ukraine ; }, abstract = {This survey paper contains a brief analysis of publications included in current issue of scientific journal «Cytology and Genetics» dedicated to its 50th anniversary. These papers reflect scientific achievements of their authors in the field of genetics and cell biology and underine the potential of these two biological disciplines, forming «double helix» of the journal.}, }
@article {pmid28188736, year = {2017}, author = {Quinlan, RA}, title = {The eye lens - a paradigm for healthy living.}, journal = {Experimental eye research}, volume = {156}, number = {}, pages = {1-2}, doi = {10.1016/j.exer.2017.02.003}, pmid = {28188736}, issn = {1096-0007}, mesh = {History, 20th Century ; History, 21st Century ; Lens Diseases/genetics/*history/metabolism ; *Lens, Crystalline ; Molecular Biology/*history ; Ophthalmology/*history ; United States ; }, }
@article {pmid28186625, year = {2017}, author = {Crawford, MH}, title = {Obituary: Derek F. Roberts (1925-2016).}, journal = {American journal of physical anthropology}, volume = {162}, number = {4}, pages = {613-615}, doi = {10.1002/ajpa.23183}, pmid = {28186625}, issn = {1096-8644}, mesh = {Africa ; Anthropology, Physical/*history ; Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Humans ; London ; Male ; Molecular Epidemiology/history ; United States ; }, }
@article {pmid28179651, year = {2017}, author = {Kucherlapati, R}, title = {Oliver Smithies (1925-2017).}, journal = {Nature}, volume = {542}, number = {7640}, pages = {166}, doi = {10.1038/542166a}, pmid = {28179651}, issn = {1476-4687}, mesh = {Anemia, Sickle Cell/genetics/therapy ; Animals ; Cystic Fibrosis ; Disease Models, Animal ; Genetic Therapy/history/methods ; Haptoglobins/chemistry ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Molecular Biology/*history ; Mouse Embryonic Stem Cells/metabolism ; Mutagenesis, Site-Directed/*history/methods ; Nobel Prize ; United Kingdom ; United States ; }, }
@article {pmid28177933, year = {2017}, author = {Thirumalai, D}, title = {Theory and computations in biology: Kamal's legacy.}, journal = {Physical biology}, volume = {14}, number = {1}, pages = {010401}, doi = {10.1088/1478-3975/aa5564}, pmid = {28177933}, issn = {1478-3975}, mesh = {Cell Biology/*history ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Models, Theoretical ; Molecular Biology/*history ; }, }
@article {pmid28177932, year = {2017}, author = {Frauenfelder, H}, title = {Physical concepts in biology-past and future.}, journal = {Physical biology}, volume = {14}, number = {1}, pages = {010402}, doi = {10.1088/1478-3975/aa559f}, pmid = {28177932}, issn = {1478-3975}, mesh = {*Cell Biology/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Physical Phenomena ; *Physics/history ; }, }
@article {pmid28174024, year = {2017}, author = {Piatigorsky, J and Bassnett, S and McAvoy, J and Bhat, SP}, title = {David C. Beebe, 1944-2015, in memoriam.}, journal = {Experimental eye research}, volume = {156}, number = {}, pages = {3-4}, doi = {10.1016/j.exer.2017.02.002}, pmid = {28174024}, issn = {1096-0007}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Lens Diseases/genetics/*history/metabolism ; *Lens, Crystalline ; Molecular Biology/*history ; Ophthalmology/*history ; United States ; }, }
@article {pmid28168833, year = {2017}, author = {Ripperger, T and Bielack, SS and Borkhardt, A and Brecht, IB and Burkhardt, B and Calaminus, G and Debatin, KM and Deubzer, H and Dirksen, U and Eckert, C and Eggert, A and Erlacher, M and Fleischhack, G and Frühwald, MC and Gnekow, A and Goehring, G and Graf, N and Hanenberg, H and Hauer, J and Hero, B and Hettmer, S and von Hoff, K and Horstmann, M and Hoyer, J and Illig, T and Kaatsch, P and Kappler, R and Kerl, K and Klingebiel, T and Kontny, U and Kordes, U and Körholz, D and Koscielniak, E and Kramm, CM and Kuhlen, M and Kulozik, AE and Lamottke, B and Leuschner, I and Lohmann, DR and Meinhardt, A and Metzler, M and Meyer, LH and Moser, O and Nathrath, M and Niemeyer, CM and Nustede, R and Pajtler, KW and Paret, C and Rasche, M and Reinhardt, D and Rieß, O and Russo, A and Rutkowski, S and Schlegelberger, B and Schneider, D and Schneppenheim, R and Schrappe, M and Schroeder, C and von Schweinitz, D and Simon, T and Sparber-Sauer, M and Spix, C and Stanulla, M and Steinemann, D and Strahm, B and Temming, P and Thomay, K and von Bueren, AO and Vorwerk, P and Witt, O and Wlodarski, M and Wössmann, W and Zenker, M and Zimmermann, S and Pfister, SM and Kratz, CP}, title = {Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.}, journal = {American journal of medical genetics. Part A}, volume = {173}, number = {4}, pages = {1017-1037}, doi = {10.1002/ajmg.a.38142}, pmid = {28168833}, issn = {1552-4833}, mesh = {Adolescent ; Child ; Focus Groups/methods ; Gene Expression ; Genetic Counseling/ethics ; *Genetic Predisposition to Disease ; Genetic Testing/methods ; Genetics, Medical/history/instrumentation/methods ; Hematologic Neoplasms/*diagnosis/genetics/pathology ; History, 21st Century ; Humans ; *Mutation ; Neoplasm Proteins/*genetics ; Neoplasms/*diagnosis/genetics/pathology ; Societies, Medical/history ; Syndrome ; }, abstract = {Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.}, }
@article {pmid28167759, year = {2017}, author = {Tilghman, SM}, title = {Profile of Bruce M. Alberts, 2016 Lasker-Koshland Special Achievement Award in Medical Science Awardee.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {7}, pages = {1439-1441}, pmid = {28167759}, issn = {1091-6490}, mesh = {*Awards and Prizes ; Biochemistry/*history ; California ; DNA Replication ; Education/standards ; History, 20th Century ; History, 21st Century ; International Agencies/history ; Molecular Biology/*history ; National Academy of Sciences, U.S./history ; Political Activism ; Publishing/history ; Research Design/standards ; United States ; }, }
@article {pmid28145901, year = {2017}, author = {Neill, US}, title = {A conversation with Eric Olson.}, journal = {The Journal of clinical investigation}, volume = {127}, number = {2}, pages = {403-404}, doi = {10.1172/JCI92059}, pmid = {28145901}, issn = {1558-8238}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Stem Cells ; }, }
@article {pmid28142260, year = {2017}, author = {Hirschhorn, K and Hirschhorn, R and Hirschhorn, JN}, title = {A Conversation with Kurt and Rochelle Hirschhorn.}, journal = {Annual review of genomics and human genetics}, volume = {18}, number = {}, pages = {31-44}, doi = {10.1146/annurev-genom-080316-090927}, pmid = {28142260}, issn = {1545-293X}, mesh = {Adenosine Deaminase/deficiency ; Genetics, Medical/*history ; Glycogen Storage Disease Type II ; History, 20th Century ; History, 21st Century ; Humans ; Lysosomal Storage Diseases ; United States ; Wolf-Hirschhorn Syndrome ; }, abstract = {In this interview, Kurt and Rochelle Hirschhorn talk with their son, Joel, about their research and collaborations, the early years of medical genetics, the development of genetic counseling, the challenges of being a woman in science, and new challenges and directions for the study of human genetics.}, }
@article {pmid28133826, year = {2017}, author = {Sorensen, D and de Los Campos, G}, title = {Daniel Gianola's contributions to animal breeding and quantitative genetics, a vuelo de pájaro.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {134}, number = {3}, pages = {175-177}, doi = {10.1111/jbg.12254}, pmid = {28133826}, issn = {1439-0388}, mesh = {Animal Husbandry/methods/*trends ; Animals ; *Breeding ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Genetic ; *Models, Statistical ; United States ; Uruguay ; }, }
@article {pmid28132940, year = {2017}, author = {}, title = {Lu pour vous dans….}, journal = {Annales de biologie clinique}, volume = {75}, number = {1}, pages = {116-119}, doi = {10.1684/abc.2016.1207}, pmid = {28132940}, issn = {1950-6112}, mesh = {Antibodies, Antinuclear/analysis ; *Automation, Laboratory ; Clinical Laboratory Techniques/methods/*trends ; Disease Transmission, Infectious/prevention &amp; control ; Drug Resistance, Multiple, Bacterial ; *Fluorescent Antibody Technique/instrumentation/methods ; Hematologic Tests/methods/trends ; Hemoglobinopathies/*diagnosis ; History, 20th Century ; History, 21st Century ; Humans ; *Immunization Programs/trends ; Lymphoid Tissue/pathology ; Molecular Biology/history/trends ; Polymerase Chain Reaction/*methods/trends ; }, }
@article {pmid28128434, year = {2017}, author = {Alberca, R}, title = {[In Memoriam. Allen D. Roses (1943-2016)].}, journal = {Revista de neurologia}, volume = {64}, number = {3}, pages = {144}, pmid = {28128434}, issn = {1576-6578}, mesh = {Alzheimer Disease/genetics/history ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Neurobiology/*history ; North Carolina ; }, }
@article {pmid28120781, year = {2016}, author = {, }, title = {Emil Fischer Carbohydrate Award 2017.}, journal = {Glycobiology}, volume = {26}, number = {11}, pages = {1136}, doi = {10.1093/glycob/cww103}, pmid = {28120781}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Carbohydrate Metabolism ; *Carbohydrates/chemistry ; Germany ; *Glycomics/history/organization &amp; administration ; History, 21st Century ; Humans ; Societies, Scientific ; }, }
@article {pmid28114099, year = {2016}, author = {Celniker, S}, title = {Susan Celniker: Foundational Resources To Study a Dynamic Genome.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {845-848}, pmid = {28114099}, issn = {1943-2631}, support = {U01 HG004271/HG/NHGRI NIH HHS/United States ; }, mesh = {Animals ; *Awards and Prizes ; Drosophila/*genetics ; Genetics/*history ; *Genome, Insect ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, }
@article {pmid28114098, year = {2016}, author = {Weigel, D}, title = {Why I Love Genetics: Essay on Occasion of Being Awarded the GSA Medal 2016.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {841-843}, pmid = {28114098}, issn = {1943-2631}, mesh = {Arabidopsis/*genetics ; *Awards and Prizes ; Flowers/*genetics ; Genetics/*history ; *Genome, Plant ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, }
@article {pmid28114096, year = {2016}, author = {Wolfner, MF and Miller, DE}, title = {Alfred Sturtevant Walks into a Bar: Gene Dosage, Gene Position, and Unequal Crossing Over in Drosophila.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {833-835}, pmid = {28114096}, issn = {1943-2631}, mesh = {Animals ; *Crossing Over, Genetic ; Drosophila melanogaster/*genetics ; *Gene Dosage ; Genetics/*history ; History, 20th Century ; *Mutation ; }, }
@article {pmid28114095, year = {2016}, author = {Wright, SI}, title = {Charlesworth et al. on Background Selection and Neutral Diversity.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {829-832}, pmid = {28114095}, issn = {1943-2631}, mesh = {*Genetic Variation ; Genetics/*history ; Genetics, Population ; History, 20th Century ; Models, Genetic ; Mutation Rate ; *Selection, Genetic ; }, }
@article {pmid28103217, year = {2017}, author = {Serio, TR}, title = {Susan Lindquist (1949-2016).}, journal = {Nature chemical biology}, volume = {13}, number = {2}, pages = {127}, doi = {10.1038/nchembio.2305}, pmid = {28103217}, issn = {1552-4469}, mesh = {*Cell Physiological Phenomena ; History, 20th Century ; History, 21st Century ; Molecular Biology/education/*history ; *Stress, Physiological ; }, }
@article {pmid28092810, year = {2017}, author = {Esposito, M}, title = {Expectation and futurity: The remarkable success of genetic determinism.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {62}, number = {}, pages = {1-9}, doi = {10.1016/j.shpsc.2017.01.001}, pmid = {28092810}, issn = {1879-2499}, mesh = {*Genetic Determinism ; Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {Genetic determinism is nowadays largely questioned and widely criticized. However, if we look at the history of biology in the last one hundred years, we realize that genetic determinism has always been controversial. Why, then, did it acquire such relevance in the past despite facing longstanding criticism? Through the analysis of some of the ambitious expectations of future scientific applications, this article explores the possibility that part of the historical success of genetic determinism lies in the powerful rhetorical strategies that have connected the germinal matter with alluring bio-technological visions. Indeed, in drawing on the recent perspectives of &quot;expectation studies&quot; in science and technology, it will be shown that there has been an interesting historical relationship between reductionist notions of the gene as a hereditary unit, coded information or functional DNA segment, and startling prophecies of what controlling such an entity might achieve. It will also be suggested that the well-known promissory nature of genomics is far older than the emergence of biotechnology in the 1970s. At least from the time of the bio-utopias predicted by J.B.S. Haldane and J. S. Huxley, the gene has often been surrounded by what I call the &quot;rhetoric of futurity&quot;: a promissory rhetoric that, despite momentous changes in the life sciences throughout the 20th century, has remained relatively consistent over time.}, }
@article {pmid28066082, year = {2016}, author = {Benz, EJ}, title = {BERNARD GREGOIRE FORGET, MD: 1939 - 2015.}, journal = {Transactions of the American Clinical and Climatological Association}, volume = {127}, number = {}, pages = {lxxxviii-xci}, pmid = {28066082}, issn = {0065-7778}, mesh = {Hematology/history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid28062605, year = {2017}, author = {Landau, M}, title = {An Interview with Robert Califf.}, journal = {Clinical chemistry}, volume = {63}, number = {1}, pages = {5-13}, doi = {10.1373/clinchem.2016.254623}, pmid = {28062605}, issn = {1530-8561}, mesh = {Big Data ; Genomics/ethics/history ; Government Regulation/history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; United States ; United States Food and Drug Administration/*history ; }, }
@article {pmid28056721, year = {2017}, author = {Salter, B and Salter, C}, title = {Controlling new knowledge: Genomic science, governance and the politics of bioinformatics.}, journal = {Social studies of science}, volume = {47}, number = {2}, pages = {263-287}, pmid = {28056721}, issn = {0306-3127}, mesh = {*Computational Biology/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Politics ; *Public Policy ; }, abstract = {The rise of bioinformatics is a direct response to the political difficulties faced by genomics in its quest to be a new biomedical innovation, and the value of bioinformatics lies in its role as the bridge between the promise of genomics and its realization in the form of health benefits. Western scientific elites are able to use their close relationship with the state to control and facilitate the emergence of new domains compatible with the existing distribution of epistemic power - all within the embrace of public trust. The incorporation of bioinformatics as the saviour of genomics had to be integrated with the operation of two key aspects of governance in this field: the definition and ownership of the new knowledge. This was achieved mainly by the development of common standards and by the promotion of the values of communality, open access and the public ownership of data to legitimize and maintain the governance power of publicly funded genomic science. Opposition from industry advocating the private ownership of knowledge has been largely neutered through the institutions supporting the science-state concordat. However, in order for translation into health benefits to occur and public trust to be assured, genomic and clinical data have to be integrated and knowledge ownership agreed upon across the separate and distinct governance territories of scientist, clinical medicine and society. Tensions abound as science seeks ways of maintaining its control of knowledge production through the negotiation of new forms of governance with the institutions and values of clinicians and patients.}, }
@article {pmid28024971, year = {2017}, author = {Yang, H}, title = {In commemoration of completion of the genetic code, and in memory of Prof. Brian Clark.}, journal = {New biotechnology}, volume = {38}, number = {Pt A}, pages = {5-6}, doi = {10.1016/j.nbt.2016.12.004}, pmid = {28024971}, issn = {1876-4347}, mesh = {*Genetic Code ; Genetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {While we celebrate the 20th anniversary of the complete decoding of the genetic code, we should also commemorate Prof. Brian Clark for his remarkable contributions to this historic landmark in life sciences, as well as to the global collaboration on sciences. As an international citizen and a great scientist, Prof. Brian Clark will live for ever in the hearts of all his friends and students.}, }
@article {pmid27997830, year = {2016}, author = {Boomsma, JJ}, title = {Fifty years of illumination about the natural levels of adaptation.}, journal = {Current biology : CB}, volume = {26}, number = {24}, pages = {R1250-R1255}, doi = {10.1016/j.cub.2016.11.034}, pmid = {27997830}, issn = {1879-0445}, mesh = {Adaptation, Physiological/*genetics ; Animals ; *Biological Evolution ; Epigenomics/history ; History, 20th Century ; Medicine in Literature/history ; Models, Biological ; Selection, Genetic ; }, abstract = {A visionary Darwinian ahead of his time, George C. Williams developed in his 1966 book Adaptation and Natural Selection the essentials of a unifying theory of adaptation that remains robust today and has inspired immense progress in understanding how natural selection works.}, }
@article {pmid27983756, year = {2017}, author = {Printz, C}, title = {First person: Margaret Spitz, MD, MPH.}, journal = {Cancer}, volume = {123}, number = {1}, pages = {9-10}, doi = {10.1002/cncr.30464}, pmid = {27983756}, issn = {1097-0142}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Epidemiology/*history ; South Africa ; Texas ; }, }
@article {pmid27956630, year = {2016}, author = {Azar, B}, title = {Profile of Harris A. Lewin.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {51}, pages = {14468-14470}, pmid = {27956630}, issn = {1091-6490}, mesh = {Animals ; Biological Evolution ; Biology/*history ; Genetics/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27942909, year = {2016}, author = {Mendelsohn, E}, title = {Garland Allen: An Appreciation.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {583-586}, pmid = {27942909}, issn = {1573-0387}, mesh = {Biology/education/*history ; Communism/history ; Genetics/history ; History, 20th Century ; Textbooks as Topic/history ; United States ; }, }
@article {pmid27927907, year = {2016}, author = {Orias, E and Frankel, J}, title = {In Memoriam: David L. Nanney (1925-2016): Tetrahymena Genetics Founder and Epigenetics Champion.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1633-1634}, pmid = {27927907}, issn = {1943-2631}, mesh = {Cilia/*genetics ; Epigenomics/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Tetrahymena/*genetics ; United States ; }, }
@article {pmid27927900, year = {2016}, author = {Kleckner, N}, title = {Questions and Assays.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1343-1349}, pmid = {27927900}, issn = {1943-2631}, support = {R01 GM025326/GM/NIGMS NIH HHS/United States ; R01 GM044794/GM/NIGMS NIH HHS/United States ; R37 GM025326/GM/NIGMS NIH HHS/United States ; }, mesh = {Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {The Thomas Hunt Morgan Medal is awarded to an individual Genetics Society of America member for lifetime achievement in the field of genetics. It recognizes the full body of work of an exceptional geneticist. The 2016 recipient is Nancy Kleckner, who has made many significant contributions to our understanding of chromosomes and the mechanisms of inheritance. Kleckner has made seminal achievements in several different research areas, including bacterial transposition, chromosome organization, and meiosis. She has repeatedly combined traditional genetic approaches with molecular biology, microscopy, physics, and modeling-unprecedented applications of these methods at the time, but which have now become commonplace. Indeed, she is widely recognized as one of the leaders in bringing meiosis research into the modern era. Notably, her laboratory played a key role in elucidating the mechanism that initiates meiotic recombination, has helped to decipher the &quot;strand gymnastics&quot; of recombination, and is beginning to provide insight into the enigmatic phenomenon of crossover interference.}, }
@article {pmid27927899, year = {2016}, author = {Telis, N and Lehmann, BV and Feldman, MW and Pritchard, JK}, title = {A Bibliometric History of the Journal GENETICS.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1337-1342}, pmid = {27927899}, issn = {1943-2631}, support = {T15 LM007033/LM/NLM NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {*Bibliometrics ; Genetics/*history/statistics &amp; numerical data/trends ; History, 20th Century ; History, 21st Century ; Periodicals as Topic/*history/statistics &amp; numerical data/trends ; }, }
@article {pmid27927898, year = {2016}, author = {van Dijk, PJ and Ellis, TH}, title = {The Full Breadth of Mendel's Genetics.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1327-1336}, pmid = {27927898}, issn = {1943-2631}, mesh = {Correspondence as Topic ; Genetics/*history ; History, 19th Century ; }, abstract = {Gregor Mendel's &quot;Experiments on Plant Hybrids&quot; (1865/1866), published 150 years ago, is without doubt one of the most brilliant works in biology. Curiously, Mendel's later studies on Hieracium (hawkweed) are usually seen as a frustrating failure, because it is assumed that they were intended to confirm the segregation ratios he found in Pisum Had this been his intention, such a confirmation would have failed, since, unknown to Mendel, Hieracium species mostly reproduce by means of clonal seeds (apomixis). Here we show that this assumption arises from a misunderstanding that could be explained by a missing page in Mendel's first letter to Carl Nägeli. Mendel's writings clearly indicate his interest in &quot;constant hybrids,&quot; hybrids which do not segregate, and which were &quot;essentially different&quot; from &quot;variable hybrids&quot; such as in Pisum After the Pisum studies, Mendel worked mainly on Hieracium for 7 years where he found constant hybrids and some great surprises. He also continued to explore variable hybrids; both variable and constant hybrids were of interest to Mendel with respect to inheritance and to species evolution. Mendel considered that their similarities and differences might provide deep insights and that their differing behaviors were &quot;individual manifestations of a higher more fundamental law.&quot;}, }
@article {pmid27927897, year = {2016}, author = {Murray, A}, title = {Paul Nurse and Pierre Thuriaux on wee Mutants and Cell Cycle Control.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1325-1326}, pmid = {27927897}, issn = {1943-2631}, mesh = {Cell Cycle/*genetics ; Genetics/*history ; History, 20th Century ; *Mutation ; Schizosaccharomyces/*genetics ; }, }
@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 {pmid27913843, year = {2016}, author = {Suárez-Díaz, E}, title = {Molecular Evolution in Historical Perspective.}, journal = {Journal of molecular evolution}, volume = {83}, number = {5-6}, pages = {204-213}, pmid = {27913843}, issn = {1432-1432}, mesh = {Animals ; Biological Evolution ; *Evolution, Molecular ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/history ; Proteins ; Sequence Analysis, DNA ; Sequence Analysis, Protein ; }, abstract = {In the 1960s, advances in protein chemistry and molecular genetics provided new means for the study of biological evolution. Amino acid sequencing, nucleic acid hybridization, zone gel electrophoresis, and immunochemistry were some of the experimental techniques that brought about new perspectives to the study of the patterns and mechanisms of evolution. New concepts, such as the molecular evolutionary clock, and the discovery of unexpected molecular phenomena, like the presence of repetitive sequences in eukaryotic genomes, eventually led to the realization that evolution might occur at a different pace at the organismic and the molecular levels, and according to different mechanisms. These developments sparked important debates between defendants of the molecular and organismic approaches. The most vocal confrontations focused on the relation between primates and humans, and the neutral theory of molecular evolution. By the 1980s and 1990s, the construction of large protein and DNA sequences databases, and the development of computer-based statistical tools, facilitated the coming together of molecular and evolutionary biology. Although in its contemporary form the field of molecular evolution can be traced back to the last five decades, the field has deep roots in twentieth century experimental life sciences. For historians of science, the origins and consolidation of molecular evolution provide a privileged field for the study of scientific debates, the relation between technological advances and scientific knowledge, and the connection between science and broader social concerns.}, }
@article {pmid27912050, year = {2016}, author = {Lawrence, PA}, title = {Francis Crick: A Singular Approach to Scientific Discovery.}, journal = {Cell}, volume = {167}, number = {6}, pages = {1436-1439}, doi = {10.1016/j.cell.2016.11.008}, pmid = {27912050}, issn = {1097-4172}, mesh = {Animals ; Caenorhabditis elegans ; Codon ; DNA/*chemistry ; Developmental Biology/history ; England ; Genetics/*history ; History, 20th Century ; Molecular Biology/*history ; Research ; }, abstract = {Francis' office window (at the Salk) commanded a panorama of the Pacific. &quot;This grand natural scene was a physical correlate of Francis's intellectual world: wide-ranging, brilliantly lit, a little overawing, but also immensely inviting and above all an exciting place to be.&quot; (Mitchison, 2004).}, }
@article {pmid27910006, year = {2016}, author = {Coco, E}, title = {William D. Hamilton's Brazilian lectures and his unpublished model regarding Wynne-Edwards's idea of natural selection. With a note on 'pluralism' and different philosophical approaches to evolution.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {24}, doi = {10.1007/s40656-016-0125-y}, pmid = {27910006}, issn = {0391-9714}, mesh = {Animals ; *Biological Evolution ; Brazil ; England ; *Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Manuscripts as Topic ; *Selection, Genetic ; *Social Behavior ; }, abstract = {In 1975, the English evolutionist William Donald Hamilton (1936-2000) held in Brazil a series of lectures entitled &quot;Population genetics and social behaviour&quot;. The unpublished notes of these conferences-written by Hamilton and recently discovered at the British Library-offer an opportunity to reflect on some of the author's ideas about evolution. The year of the conference is particularly significant, as it took place shortly after the applications of the Price equation with which Hamilton was able to build a model that included several levels of selection. In this paper I mainly analyse the inaugural lecture in which Hamilton proposes a simple model to disprove the hypothesis supported by the British zoologist C. Vero Wynne-Edwards (1906-1997) regarding mechanisms to prevent &quot;over-exploitation of the food supply&quot; in &quot;the interests of the survival of the group&quot;. The document presented here is of great historical interest. Not only because manuscript offers a model that-since it was intended for teaching purposes-had never before appeared in the published version, but also because of the general index of the lectures that accompanies it. The latter allows us to make some hypothetical considerations on the relationship and differences between kin-selection, group-selection and inclusive fitness that Hamilton wanted to present to the attentive, well-prepared audience of the foreign university that had invited him.}, }
@article {pmid27907853, year = {2017}, author = {Ishida, Y}, title = {Sewall Wright, shifting balance theory, and the hardening of the modern synthesis.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {61}, number = {}, pages = {1-10}, doi = {10.1016/j.shpsc.2016.11.001}, pmid = {27907853}, issn = {1879-2499}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Models, Genetic ; *Selection, Genetic ; }, abstract = {The period between the 1940s and 1960s saw the hardening of the modern synthesis in evolutionary biology. Gould and Provine argue that Wright's shifting balance theory of evolution hardened during this period. But their account does not do justice to Wright, who always regarded selection as acting together with drift. This paper presents a more adequate account of the development of Wright's shifting balance theory, paying particular attention to his application of the theory to the geographical distribution of flower color dimorphism in Linanthus parryae. The account shows that even in the heyday of the hardened synthesis, the balance or interaction of evolutionary factors, such as drift, selection, and migration, occupied pride of place in Wright's theory, and that between the 1940s and 1970s, Wright developed the theory of isolation by distance to quantitatively represent the structure of the Linanthus population, which he argued had the kind of structure posited by his shifting balance theory. In the end, Wright arrived at a sophisticated description of the structure of the Linanthus population, where the interaction between drift and selection varied spatially.}, }
@article {pmid27906689, year = {2016}, author = {Neill, US}, title = {A conversation with Bruce Alberts.}, journal = {The Journal of clinical investigation}, volume = {126}, number = {12}, pages = {4391-4392}, doi = {10.1172/JCI91072}, pmid = {27906689}, issn = {1558-8238}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid27897078, year = {2016}, author = {Ueda, A and Patience, T and Wu, CF}, title = {Photo gallery for the special issue in honor of Barry Ganetzky.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {223-236}, doi = {10.1080/01677063.2016.1260252}, pmid = {27897078}, issn = {1563-5260}, mesh = {Animals ; Drosophila/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; }, }
@article {pmid27875249, year = {2016}, author = {Maartens, A}, title = {An interview with Kathryn Anderson.}, journal = {Development (Cambridge, England)}, volume = {143}, number = {22}, pages = {4095-4096}, doi = {10.1242/dev.145706}, pmid = {27875249}, issn = {1477-9129}, mesh = {Animals ; Body Patterning/genetics ; *Developmental Biology/history ; Drosophila/embryology/genetics ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; United States ; }, abstract = {Kathryn Anderson is Professor and Chair of the Developmental Biology Program at the Sloan Kettering Institute in New York. Her lab investigates the genetic networks underlying the patterning and morphogenesis of the early mouse embryo. We caught up with Kathryn at the 2016 Society for Developmental Biology - International Society of Differentiation joint meeting in Boston, where she was awarded the Edwin G. Conklin medal.}, }
@article {pmid27872276, year = {2016}, author = {Viegas, J}, title = {Profile of Peter A. Jones.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {48}, pages = {13546-13548}, pmid = {27872276}, issn = {1091-6490}, mesh = {Epigenomics/*history ; History, 21st Century ; Humans ; Male ; MicroRNAs/genetics ; Neoplasms/genetics ; }, }
@article {pmid27872249, year = {2016}, author = {O'Donnell, MA}, title = {Job Dekker: Hitting the scientific hi-Cs.}, journal = {The Journal of cell biology}, volume = {215}, number = {4}, pages = {434-435}, pmid = {27872249}, issn = {1540-8140}, mesh = {Biomedical Research/*history ; Career Choice ; *Chromosomes, Human ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; }, }
@article {pmid27868460, year = {2016}, author = {O'Connor-Giles, KM and Zhang, B and Simpson, JH and Wu, CF}, title = {The neurogenetics of Drosophila: the Ganetzky legacy.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {149-151}, doi = {10.1080/01677063.2016.1254629}, pmid = {27868460}, issn = {1563-5260}, mesh = {Animals ; Drosophila/*genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; United States ; }, }
@article {pmid27868377, year = {2016}, author = {Maxson, SC}, title = {Benson Earl Ginsburg (1918-2016): a pioneer in behavior genetics.}, journal = {Genes, brain, and behavior}, volume = {15}, number = {8}, pages = {777-778}, doi = {10.1111/gbb.12350}, pmid = {27868377}, issn = {1601-183X}, mesh = {*Behavior ; Biological Evolution ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Psychology/*history ; }, }
@article {pmid27854053, year = {2016}, author = {Stotz, K and Griffiths, P}, title = {Epigenetics: ambiguities and implications.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {22}, doi = {10.1007/s40656-016-0121-2}, pmid = {27854053}, issn = {0391-9714}, mesh = {Animals ; *Biological Evolution ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; Plants/genetics ; }, abstract = {Everyone has heard of 'epigenetics', but the term means different things to different researchers. Four important contemporary meanings are outlined in this paper. Epigenetics in its various senses has implications for development, heredity, and evolution, and also for medicine. Concerning development, it cements the vision of a reactive genome strongly coupled to its environment. Concerning heredity, both narrowly epigenetic and broader 'exogenetic' systems of inheritance play important roles in the construction of phenotypes. A thoroughly epigenetic model of development and evolution was Waddington's aim when he introduced the term 'epigenetics' in the 1940s, but it has taken the modern development of molecular epigenetics to realize this aim. In the final sections of the paper we briefly outline some further implications of epigenetics for medicine and for the nature/nurture debate.}, }
@article {pmid27848075, year = {2017}, author = {Harper, PS}, title = {Recorded interviews with human and medical geneticists.}, journal = {Human genetics}, volume = {136}, number = {2}, pages = {149-164}, pmid = {27848075}, issn = {1432-1203}, mesh = {Databases, Genetic ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Interviews as Topic/*methods ; Phylogeography ; }, abstract = {A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier. A number of prominent themes emerge from the interview series; notably the beginnings of human cytogenetics from the late 1950s, the development of medical genetics research and its clinical applications in the 1960s and 1970s, and more recently the beginnings and rapid growth of human molecular genetics. The interviews provide vivid personal portraits of those involved, and also show the effects of social and political issues, notably those arising from World War 2 and its aftermath, which affected not only the individuals involved but also broader developments in human genetics, such as research related to risks of irradiation. While this series has made a start in the oral history of this important field, extension and further development of the work is urgently needed to give a fuller picture of how human genetics has developed.}, }
@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 {pmid27832455, year = {2016}, author = {Sankaran, N}, title = {Stage-hands, make-up artists, and other backstage characters in the drama of science.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {19}, doi = {10.1007/s40656-016-0120-3}, pmid = {27832455}, issn = {0391-9714}, mesh = {Europe ; Genetics/*history ; History, 20th Century ; North America ; }, }
@article {pmid27832454, year = {2016}, author = {Shah, E}, title = {A tale of two biographies: the myth and truth of Barbara McClintock.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {18}, doi = {10.1007/s40656-016-0119-9}, pmid = {27832454}, issn = {0391-9714}, mesh = {*Biographies as Topic ; Cytogenetics/*history ; History, 20th Century ; United States ; }, abstract = {Evelyn Fox Keller wrote first biography of the Nobel Prize winning geneticist Barbara McClintock in which Keller discussed how McClintock felt being rejected by her peers in the 1950s because she questioned the dominant idea of the particulate gene and instead proposed that the genetic material jumped positions on the chromosome which indicated that the gene did not control but was controlled by the cellular environment. Keller's story of McClintock's life is an account of a woman scientist's conception of science and how her unorthodox views isolated her from the main stream science. Keller's biography was read by many in a way that made McClintock a feminist icon by showing how women scientists &quot;see&quot; scientific objects differently and how their science is holistic and hence radically different from the reductionism of male-dominated science. The second biographer Nathaniel Comfort calls this story a myth. In his detailed intellectual biography, Comfort embarks on an energetic journey to separate fact from fiction to dismantle what he calls the McClintock myth. The difference between two biographers is not entirely about evidences or about separating fact from fiction but about their adoption of two contrasting paradigms of scientist's subjectivity: Keller foregrounds McClintock's affective self and Comfort her rational. In this commentary I have closely and comparatively read both biographies to revisit Keller's &quot;myth&quot; and Comfort's &quot;truth&quot; and to provide yet another interpretation of McClintock's life and work from the perspective of object relations theories in psychoanalysis. Instead of figuring out the extent to which the myth bears truth as Comfort does, I have asked questions: How and why this private myth was in the making throughout McClintock's life and work? How this private myth was related to the making of her science? By using developmental psychoanalytical approach, I show that what Comfort calls McClintock's private myth was not something that was partly fictional and hence incorrect or wrong but it emerged from a deeply and compellingly affective place in McClintock's life. This so called myth was integral to and fundamentally formative of who she was, a woman and a scientist, and that this myth formatively shaped McClintock's relationship with science's objects and science's subjects. This commentary aims to show the relevance and usefulness of psychoanalytical theories for understanding scientific subjectivities and provides a revision to the neo-Kantian idea of scientist subject-a unified and wilful, self-determined, self-regulated, active, autonomous, and rational subject wilfully driven by social and scientific ethos-generally popular among historians of science.}, }
@article {pmid27830591, year = {2016}, author = {Ferrús, A}, title = {One plus one makes more than two.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {152-154}, doi = {10.1080/01677063.2016.1246546}, pmid = {27830591}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {Pleasant memories rejuvenate and this letter is written to that purpose. Although dedicated to Barry Ganetzky, I hope it will please also those that shared their times with us in the lab of Seymour Benzer. For those too young to have so distant memories, I hope this text will teach them the same lessons we learnt then.}, }
@article {pmid27821491, year = {2016}, author = {Casadio, M}, title = {Fanni Gergely: Exploring centrosome biology.}, journal = {The Journal of cell biology}, volume = {215}, number = {3}, pages = {294-295}, pmid = {27821491}, issn = {1540-8140}, mesh = {Biomedical Research/*history ; Centrosome/*physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27803212, year = {2016}, author = {Pederson, T}, title = {Roger Tsien and Chemical Biology.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {30}, number = {11}, pages = {3655-3657}, doi = {10.1096/fj.161101ufm}, pmid = {27803212}, issn = {1530-6860}, mesh = {California ; Chemistry, Bioinorganic/*history ; Green Fluorescent Proteins/chemistry/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Nobel Prize ; }, }
@article {pmid27770223, year = {2017}, author = {}, title = {Benson Earl Ginsburg 1918-2016: A Pioneer in Behavior Genetics.}, journal = {Behavior genetics}, volume = {47}, number = {1}, pages = {1-2}, doi = {10.1007/s10519-016-9824-0}, pmid = {27770223}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history/*trends ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27765265, year = {2017}, author = {Rabouille, C and Deschamps, J}, title = {On the shoulders of Hubrecht: From embryos to stem cells.}, journal = {Developmental biology}, volume = {428}, number = {2}, pages = {264-272}, doi = {10.1016/j.ydbio.2016.10.005}, pmid = {27765265}, issn = {1095-564X}, mesh = {*Academies and Institutes/history ; Animals ; Developmental Biology/history ; *Embryology/history ; Embryonic Development/genetics ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/history ; Netherlands ; Regenerative Medicine/history ; Stem Cell Research/history ; *Stem Cells ; }, abstract = {One hundred years of the Hubrecht Institute were celebrated in May 2016 with the organization of a one-day symposium &quot;From embryos to stem cells&quot; on the Uithof Campus, Utrecht, the Netherlands. Nine distinguished speakers were invited. They all represent a research branch originating from the passion of Institute founder, Ambrosius Hubrecht, for embryology:, regulation of gene expression, genome structure and function, embryonic and adult stem cells, nuclear reprogramming, and understanding cancer and other diseases using model organisms. The centennial symposium not only retraced the history of the Institute and of modern developmental biology, but was also a tribute to basic research. From there, avenues to therapeutics are being developed and implemented. The symposium was organized, introduced and chaired by Jeroen den Hertog and Alexander van Oudenaarden, the present Directors of the Institute, who also stand on Hubrecht's shoulders.}, }
@article {pmid26828014, year = {2016}, author = {Andreassen, CN and Schack, LM and Laursen, LV and Alsner, J}, title = {Radiogenomics - current status, challenges and future directions.}, journal = {Cancer letters}, volume = {382}, number = {1}, pages = {127-136}, doi = {10.1016/j.canlet.2016.01.035}, pmid = {26828014}, issn = {1872-7980}, mesh = {Data Mining ; Databases, Genetic ; Diffusion of Innovation ; Forecasting ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Genomics/history/*methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics/metabolism/*radiotherapy ; *Polymorphism, Single Nucleotide ; Precision Medicine/history/*methods/trends ; Quantitative Trait Loci ; Radiation Injuries/*genetics/metabolism/prevention &amp; control ; Radiation Oncology/history/*methods/trends ; Radiation Tolerance/*genetics ; Radiotherapy/adverse effects ; Risk Assessment ; Risk Factors ; Transforming Growth Factor beta1/genetics ; }, abstract = {Radiogenomics designates a scientific field that addresses possible associations between genetic germline alterations and normal tissue toxicity after radiotherapy. The ultimate aim of this research is to establish a gene-based predictive test for normal tissue radiosensitivity. During the last 5 years, substantial progress has been achieved in this field. Several compelling associations for SNPs have been demonstrated in large candidate gene studies as well as genome wide association studies. These findings shed new light on radiobiology and expand our understanding of the processes that lead to side effects after radiotherapy. Despite this, certain fundamental challenges still relate to genomic approaches. Based on the latest insights into complex trait genetics and molecular genetics, we provide an analysis of these challenges and propose putative strategies to further advance the field. These strategies include 'big data approaches' and collaborative research within international consortia. Furthermore, research that combines the study of radiation-induced gene expression and genome-wide SNP genotype may discover genetic alterations that regulate the biological response to ionizing radiation. Thus, such integrative approaches may lead to genetic alterations that affect risk of normal tissue toxicity.}, }
@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 {pmid27754546, year = {2016}, author = {Lynøe, N}, title = {[The N-rays were imagined, but the research was no fraud].}, journal = {Lakartidningen}, volume = {113}, number = {}, pages = {}, pmid = {27754546}, issn = {1652-7518}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Observer Variation ; *Radiation ; Research Design/*standards ; Scientific Misconduct/*history ; }, }
@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 = {KEY MESSAGE: 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 {pmid27738921, year = {2017}, author = {Simunek, MV and Mielewczik, M and Levit, GS and Hossfeld, U}, title = {Armin von Tschermak-Seysenegg (1870-1952): Physiologist and Co-'Rediscoverer' of Mendel's laws.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {136}, number = {1-2}, pages = {59-67}, pmid = {27738921}, issn = {1611-7530}, mesh = {Austria-Hungary ; Botany/*history ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plant Physiological Phenomena ; Plants ; }, abstract = {The 'rediscovery' of Mendel's laws in 1900 was a turning point in modern research of heredity/genetics. According to the traditional view, adopted and fostered by many textbooks of genetics, Mendel's principles were presented in the first half of 1900 simultaneously and independently by three biologists (H. de Vries, C. Correns, E. v. Tschermak-Seysenegg). Having thus laid the foundations of further development, the 'rediscovery' continues to attract considerable interest. Since the 1950s, however, serious questions arose concerning both the chronology and specific conceptual achievement of the scientists involved. Not only the independence but also parallelism was analysed in the context of individual research programmes of these three scholars. The youngest of them, Erich v. Tschermak-Seysenegg, was even excluded from the list of 'rediscoverers'. The aim of this paper is to use new archival evidence and approximate the contribution of the physiologist and ophthalmologist Armin von Tschermak-Seysenegg (1870-1952) to the events of 1900 and 1901.}, }
@article {pmid27736743, year = {2016}, author = {Jacob, H}, title = {From rat pathophysiology to genomic medicine: an interview with Howard Jacob.}, journal = {Disease models &amp; mechanisms}, volume = {9}, number = {10}, pages = {1073-1077}, doi = {10.1242/dmm.027805}, pmid = {27736743}, issn = {1754-8411}, mesh = {Animals ; Biomedical Research/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Mice ; Rats ; }, abstract = {Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and genetics of the rat to help understand complex human diseases. Howard was Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin for 16 years, during which time he applied a combination of approaches, including quantitative genetics, integrative physiology and next-generation sequencing, in rat models to shed light on cardiovascular, metabolic and renal disorders. He was a key contributor to the genomic toolbox for rat research, and generated the first targeted-knockout rat models using zinc-finger-nuclease technology. He also contributed to sequencing of the rat genome and establishment of the Rat Genome Database. In this interview, Howard provides his perspectives on the past, present and future of rat-based translational research and explains why, despite his many successes as the leader of a rat group, he recently made the transition to clinical genomics.}, }
@article {pmid27730306, year = {2017}, author = {Hoßfeld, U and Jacobsen, HJ and Plass, C and Brors, B and Wackernagel, W}, title = {150 years of Johann Gregor Mendel's &quot;Versuche über Pflanzen-Hybriden&quot;.}, journal = {Molecular genetics and genomics : MGG}, volume = {292}, number = {1}, pages = {1-3}, pmid = {27730306}, issn = {1617-4623}, mesh = {Animals ; Genetics/*history ; Genomics/history ; History, 19th Century ; Humans ; Molecular Biology/history ; Plants/genetics ; Precision Medicine ; }, }
@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 {pmid27729490, year = {2016}, author = {Sandell, L and Otto, SP}, title = {Probing the Depths of Biological Diversity During the Second Century of GENETICS.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {395-400}, pmid = {27729490}, issn = {1943-2631}, mesh = {Biodiversity ; Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@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 = {KEY MESSAGE: 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 &quot;soft&quot; heredity; Mendel espoused discontinuous variation and &quot;hard&quot; 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 {pmid27698139, year = {2016}, author = {Gabrielsen, P}, title = {QnAs with Alan G. Hinnebusch.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {41}, pages = {11380-11381}, pmid = {27698139}, issn = {1091-6490}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Protein Biosynthesis ; RNA, Messenger/genetics/metabolism ; Saccharomyces cerevisiae/genetics ; }, }
@article {pmid27696552, year = {2016}, author = {Hoffmann, GR and Shelby, MD and Zeiger, E}, title = {Remembering Heinrich Malling.}, journal = {Environmental and molecular mutagenesis}, volume = {57}, number = {8}, pages = {575-578}, doi = {10.1002/em.22056}, pmid = {27696552}, issn = {1098-2280}, mesh = {Animals ; DNA/genetics ; Denmark ; *Genetic Techniques/history ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Mutagenesis ; Mutation ; United States ; }, }
@article {pmid27695890, year = {2016}, author = {Bicknell, R and Catanach, A and Hand, M and Koltunow, A}, title = {Seeds of doubt: Mendel's choice of Hieracium to study inheritance, a case of right plant, wrong trait.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2253-2266}, pmid = {27695890}, issn = {1432-2242}, mesh = {Apomixis/*genetics ; Asteraceae/*genetics ; Genetics/*history ; History, 19th Century ; *Hybridization, Genetic ; Inheritance Patterns ; Phenotype ; Plant Breeding ; }, abstract = {KEY MESSAGE: In this review, we explore Gregor Mendel's hybridization experiments with Hieracium , update current knowledge on apomictic reproduction and describe approaches now being used to develop true-breeding hybrid crops. From our perspective, it is easy to conclude that Gregor Mendel's work on pea was insightful, but his peers clearly did not regard it as being either very convincing or of much importance. One apparent criticism was that his findings only applied to pea. We know from a letter he wrote to Carl von Nägeli, a leading botanist, that he believed he needed to &quot;verify, with other plants, the results obtained with Pisum&quot;. For this purpose, Mendel adopted Hieracium subgenus Pilosella, a phenotypically diverse taxon under botanical study at the time. What Mendel could not have known, however, is that the majority of these plants are not sexual plants like pea, but instead are facultatively apomictic. In these forms, the majority of seed arises asexually, and such progeny are, therefore, clones of the maternal parent. Mendel obtained very few hybrids in his Hieracium crosses, yet we calculate that he probably emasculated in excess of 5000 Hieracium florets to even obtain the numbers he did. Despite that effort, he was perplexed by the results, and they ultimately led him to conclude that &quot;the hybrids of Hieracium show a behaviour exactly opposite to those of Pisum&quot;. Apomixis is now a topic of intense research interest, and in an ironic twist of history, Hieracium subgenus Pilosella has been developed as a molecular model to study this trait. In this paper, we explore further Mendel's hybridization experiments with Hieracium, update current knowledge on apomictic reproduction and describe approaches now being used to develop true-breeding hybrid crops.}, }
@article {pmid27694743, year = {2016}, author = {}, title = {Teri Lear, PhD (1951-2016).}, journal = {Cytogenetic and genome research}, volume = {149}, number = {4}, pages = {237-240}, doi = {10.1159/000450535}, pmid = {27694743}, issn = {1424-859X}, mesh = {Animals ; Cytogenetics/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Horses/*genetics ; Kentucky ; }, }
@article {pmid27690769, year = {2016}, author = {O'Malley, BW}, title = {Origins of the Field of Molecular Endocrinology: A Personal Perspective.}, journal = {Molecular endocrinology (Baltimore, Md.)}, volume = {30}, number = {10}, pages = {1015-1018}, pmid = {27690769}, issn = {1944-9917}, support = {R01 HD008188/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Endocrinology/*history ; History, 20th Century ; History, 21st Century ; Hormones/metabolism ; Humans ; Molecular Biology/*history ; Receptors, Cell Surface/metabolism ; }, }
@article {pmid27690768, year = {2016}, author = {Nilson, JH}, title = {Bidding a Fond Farwell to Molecular Endocrinology.}, journal = {Molecular endocrinology (Baltimore, Md.)}, volume = {30}, number = {10}, pages = {1023-1024}, doi = {10.1210/me.2016-1130}, pmid = {27690768}, issn = {1944-9917}, mesh = {Congresses as Topic/history ; Endocrinology/history/*trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/*trends ; Periodicals as Topic/*history/*trends ; Societies, Scientific/history ; }, }
@article {pmid27690765, year = {2016}, author = {Thompson, EB}, title = {Reflections on the Merger of Molecular Endocrinology and Endocrinology.}, journal = {Molecular endocrinology (Baltimore, Md.)}, volume = {30}, number = {10}, pages = {1019-1020}, doi = {10.1210/me.2016-1128}, pmid = {27690765}, issn = {1944-9917}, mesh = {Endocrinology/*history ; History, 20th Century ; Molecular Biology/*history ; Periodicals as Topic/*history ; Societies, Scientific/history ; }, }
@article {pmid27690355, year = {2016}, author = {Adhikari, K and Mendoza-Revilla, J and Chacón-Duque, JC and Fuentes-Guajardo, M and Ruiz-Linares, A}, title = {Admixture in Latin America.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {106-114}, doi = {10.1016/j.gde.2016.09.003}, pmid = {27690355}, issn = {1879-0380}, mesh = {African Continental Ancestry Group/*genetics ; European Continental Ancestry Group/*genetics ; Genetics, Population/*history ; Genome, Human ; History, 15th Century ; History, 16th Century ; Human Migration/*history ; Humans ; Latin America ; }, abstract = {Latin Americans arguably represent the largest recently admixed populations in the world. This reflects a history of massive settlement by immigrants (mostly Europeans and Africans) and their variable admixture with Natives, starting in 1492. This process resulted in the population of Latin America showing an extensive genetic and phenotypic diversity. Here we review how genetic analyses are being applied to examine the demographic history of this population, including patterns of mating, population structure and ancestry. The admixture history of Latin America, and the resulting extensive diversity of the region, represents a natural experiment offering an advantageous setting for genetic association studies. We review how recent analyses in Latin Americans are contributing to elucidating the genetic architecture of human complex traits.}, }
@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 {pmid27681168, year = {2016}, author = {Gould, TD}, title = {Irving I. Gottesman (1930-2016): the multifactorial threshold model of complex phenotypes mediated by endophenotype strategies.}, journal = {Genes, brain, and behavior}, volume = {15}, number = {8}, pages = {775-776}, doi = {10.1111/gbb.12345}, pmid = {27681168}, issn = {1601-183X}, mesh = {*Behavior ; Endophenotypes ; Epigenomics/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Schizophrenia/*genetics ; }, }
@article {pmid27664793, year = {2017}, author = {Merrick, WC}, title = {The Celebration of 40 years of structural biology at Aarhus University as seen through the eyes of a translationalist.}, journal = {New biotechnology}, volume = {38}, number = {Pt A}, pages = {26-28}, doi = {10.1016/j.nbt.2016.09.004}, pmid = {27664793}, issn = {1876-4347}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; *Models, Structural ; *Protein Biosynthesis ; *Universities ; }, abstract = {Over the past 50 years, both Brian Clark and I have worked on tRNA, Brian more successfully than I. Our common interests have established collaborations and the training of Aarhus University students in my laboratory. As part of my rejuvenation plan, I have returned to Aarhus and participated in teaching a course in protein synthesis about every five years, beginning in 1990. It has been through this close contact with both Brian and the numerous faculty of the structural biology group that I have been able to witness and appreciate the great strides they have made, both in building a world class department and in the ground breaking discoveries that went with them. While much of the success of the Department of Molecular Biology and Genetics reflects the individual accomplishments of many, the growth of the department is largely a reflection of the dogged determination of Brian to develop one of the most modern and competitive departments in Denmark, if not in Europe (sort of reminds one of Winston Churchill). This retrospective highlights our parallel paths in tRNA and protein synthesis research and Brian's influence in establishing world renowned research in Aarhus.}, }
@article {pmid27662059, year = {2016}, author = {Wall, JD and Yoshihara Caldeira Brandt, D}, title = {Archaic admixture in human history.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {93-97}, doi = {10.1016/j.gde.2016.07.002}, pmid = {27662059}, issn = {1879-0380}, mesh = {Africa ; Animals ; DNA, Ancient/*analysis ; Genetics, Population/*history ; History, Ancient ; Hominidae/*genetics ; Humans ; Neanderthals/*genetics ; }, abstract = {Modern humans evolved in Southern or Eastern Africa, and spread from there across the rest of the world. As they expanded across Africa and Eurasia, they encountered other hominin groups. The extent to which modern and 'archaic' human groups interbred is an area of active research, and while we know that modern humans interbred with Neanderthals and Denisovans, there is not yet agreement on how many admixture events there were or on how much Neanderthal or Denisovan DNA can be found in contemporary genomes. Here we review what is known about archaic admixture in human history, with a focus on what has been discovered in the past 2 years.}, }
@article {pmid27644073, year = {2016}, author = {Rotimi, CN and Tekola-Ayele, F and Baker, JL and Shriner, D}, title = {The African diaspora: history, adaptation and health.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {77-84}, pmid = {27644073}, issn = {1879-0380}, support = {ZIA HG200362/HG/NHGRI NIH HHS/United States ; ZIA HG200362-02//Intramural NIH HHS/United States ; }, mesh = {Adaptation, Physiological/*genetics ; African Continental Ancestry Group/*genetics ; Apolipoprotein L1/genetics ; Enslavement/history ; Genetic Variation ; Genetics, Population/*history ; Genome, Human/*genetics ; Genomics/history ; History, 16th Century ; History, 17th Century ; History, 18th Century ; Humans ; Lipoprotein Lipase/genetics ; }, abstract = {The trans-Atlantic slave trade brought millions of Africans to the New World. Advances in genomics are providing novel insights into the history and health of Africans and the diasporan populations. Recent examples reviewed here include the unraveling of substantial hunter-gatherer and 'Eurasian' admixtures across sub-Saharan Africa, expanding our understanding of ancestral African genetics; the global ubiquity of mixed ancestry; the revealing of African ancestry in Latin Americans that likely derived from the slave trade; and understanding of the ancestral backgrounds of APOL1 and LPL found to influence kidney disease and lipid levels, respectively, providing specific insights into disease etiology and health disparities.}, }
@article {pmid27631794, year = {2016}, author = {Matunis, MJ and Rodriguez, MS}, title = {Concepts and Methodologies to Study Protein SUMOylation: An Overview.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1475}, number = {}, pages = {3-22}, doi = {10.1007/978-1-4939-6358-4_1}, pmid = {27631794}, issn = {1940-6029}, mesh = {Animals ; Chromatin/chemistry/*metabolism ; Cysteine Endopeptidases/genetics/*metabolism ; Eukaryotic Cells/cytology/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Plants/genetics/metabolism ; Protein Isoforms/genetics/metabolism ; *Protein Processing, Post-Translational ; Proteomics/*history/methods ; Saccharomyces cerevisiae/genetics/metabolism ; Small Ubiquitin-Related Modifier Proteins/genetics/*metabolism ; Sumoylation ; }, abstract = {Protein modification by the small ubiquitin-related modifier (SUMO) was simultaneously discovered by several groups at the middle of the 1990s. Although distinct names were proposed including Sentrin, GMP1, PIC1, or SMT3, SUMO became the most popular. Early studies on the functions of SUMOylation focused on activities in the nucleus, including transcription activation, chromatin structure, and DNA repair. However, it is now recognized that SUMOylation affects a large diversity of cellular processes both in the nucleus and the cytoplasm and functions of SUMOylation appear to have undefined limits. SUMO-conjugating enzymes and specific proteases actively regulate the modification status of target proteins. The recent discoveries of ubiquitin-SUMO hybrid chains, multiple SUMO-interacting motifs, and macromolecular complexes regulated by SUMOylation underscore the high complexity of this dynamic reversible system. New conceptual frameworks suggested by these findings have motivated the development of new methodologies to study pre- and post-SUMOylation events in vitro and in vivo, using distinct model organisms. Here we summarize some of the new developments and methodologies in the field, particularly those that will be further elaborated on in the chapters integrating this book.}, }
@article {pmid27620537, year = {2016}, author = {Jackson, S}, title = {The 2016 Lasker~Koshland Special Achievement Award recognizes Bruce Alberts' lifelong dedication to research, policy, and education.}, journal = {The Journal of clinical investigation}, volume = {126}, number = {10}, pages = {3645-3650}, pmid = {27620537}, issn = {1558-8238}, mesh = {*Awards and Prizes ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid27613957, year = {2016}, author = {Gierasch, LM}, title = {A Loyal Friend of ASBMB and JBC: Howard Schachman, 1918-2016.}, journal = {The Journal of biological chemistry}, volume = {291}, number = {37}, pages = {19724}, pmid = {27613957}, issn = {1083-351X}, mesh = {Biochemistry/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; Societies, Scientific/*history ; }, }
@article {pmid27602739, year = {2016}, author = {Dance, A}, title = {Medical histories.}, journal = {Nature}, volume = {537}, number = {7619}, pages = {S52-3}, pmid = {27602739}, issn = {1476-4687}, mesh = {Alkaptonuria/genetics ; Arsenites/adverse effects/history/therapeutic use ; Blood Grouping and Crossmatching/history ; Blood Transfusion/history/methods ; Breast Neoplasms/drug therapy/genetics ; Classification ; Cytochrome P-450 Enzyme System/genetics/metabolism ; Female ; Genetic Testing/history ; Genetic Therapy/history ; Genetics/history ; Genome, Human/genetics ; Genotype ; Greece ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Human Genome Project/economics/history ; Humans ; Medical History Taking ; Medicine, Ayurvedic/history ; Pharmacogenetics/*history ; Phenylthiourea/pharmacology ; Potassium Compounds/adverse effects/history/therapeutic use ; Precision Medicine/*history ; Sequence Analysis, DNA/economics/history/instrumentation ; Taste/drug effects/genetics ; Warfarin/adverse effects ; }, }
@article {pmid27601615, year = {2016}, author = {Barahona, A}, title = {Medical Genetics and the First Studies of the Genetics of Populations in Mexico.}, journal = {Genetics}, volume = {204}, number = {1}, pages = {11-19}, pmid = {27601615}, issn = {1943-2631}, mesh = {ABO Blood-Group System/genetics ; Gene Frequency ; Genetic Variation ; Genetics, Medical/*history/methods ; Genetics, Population/*history/methods ; History, 20th Century ; Humans ; Mexico ; Population Groups ; }, abstract = {Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts.}, }
@article {pmid27584572, year = {2016}, author = {Atkinson, NS}, title = {How the Ganetzky lab drove me to alcohol.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {155-158}, pmid = {27584572}, issn = {1563-5260}, support = {R01 AA018037/AA/NIAAA NIH HHS/United States ; }, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {This is a brief reminiscence of my time in the Ganetzky lab from 1986-1990 and its effect on my scientific trajectory.}, }
@article {pmid27563746, year = {2017}, author = {Pasman, Z and Garcia-Blanco, MA}, title = {Early history of circular RNAs, children of splicing.}, journal = {RNA biology}, volume = {14}, number = {8}, pages = {975-977}, pmid = {27563746}, issn = {1555-8584}, mesh = {Eukaryotic Cells/cytology/metabolism ; Exons ; History, 20th Century ; History, 21st Century ; Humans ; Introns ; Molecular Biology/*history ; Nucleic Acid Conformation ; RNA/*genetics/metabolism ; RNA Precursors/*genetics/metabolism ; *RNA Splice Sites ; *RNA Splicing ; RNA, Circular ; Spliceosomes/metabolism/ultrastructure ; }, abstract = {In this commentary we briefly summarize early work on circular RNAs derived from spliceosome mediated circularization. We highlight how this early work inspired work on the basic mechanisms of nuclear RNA splicing, the possible function of circular RNAs and the potential uses of circular RNAs as tools in biomedicine. Recent developments in the study of circular RNAs, summarized in this volume, have brought these questions back to the foreground.}, }
@article {pmid27558539, year = {2016}, author = {McCammon, JA}, title = {Autobiography of J. Andrew McCammon.}, journal = {The journal of physical chemistry. B}, volume = {120}, number = {33}, pages = {8057-8060}, doi = {10.1021/acs.jpcb.6b00834}, pmid = {27558539}, issn = {1520-5207}, mesh = {*Chemistry, Physical/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; United States ; Workforce ; }, }
@article {pmid27551696, year = {2016}, author = {Snyder, A}, title = {Irving Gottesman.}, journal = {Lancet (London, England)}, volume = {388}, number = {10045}, pages = {654}, doi = {10.1016/s0140-6736(16)31284-3}, pmid = {27551696}, issn = {1474-547X}, mesh = {Faculty ; *Gene-Environment Interaction ; Genetics/education/*history ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Psychiatry/*history ; Psychology/education/*history ; Psychology, Clinical/history ; Schizophrenia/etiology/genetics/*history ; }, }
@article {pmid27551067, year = {2016}, author = {Nair, P}, title = {QnAs with Huda Y. Zoghbi.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {35}, pages = {9665-9667}, pmid = {27551067}, issn = {1091-6490}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Methyl-CpG-Binding Protein 2/genetics/*metabolism ; *Molecular Biology/history ; Mutation ; *Neurosciences/history ; Rett Syndrome/*genetics/pathology ; United States ; Workforce ; }, }
@article {pmid27540900, year = {2016}, author = {Opitz, JM and Biesecker, LG and Hennekam, RC}, title = {GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.}, journal = {American journal of medical genetics. Part A}, volume = {170}, number = {10}, pages = {2501-2502}, doi = {10.1002/ajmg.a.37760}, pmid = {27540900}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 21st Century ; Humans ; Serial Publications/history ; }, }
@article {pmid27528675, year = {2016}, author = {Doctrow, B}, title = {QnAs with Shiv Grewal.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {34}, pages = {9388-9389}, pmid = {27528675}, issn = {1091-6490}, mesh = {Heterochromatin/*metabolism/ultrastructure ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; RNA, Small Interfering/*genetics/metabolism ; Schizosaccharomyces/*genetics/metabolism ; Transcription Termination, Genetic ; United States ; Workforce ; }, }
@article {pmid27518555, year = {2016}, author = {Hassan, BA}, title = {The I in Scientist.}, journal = {Cell}, volume = {166}, number = {4}, pages = {790-793}, doi = {10.1016/j.cell.2016.07.037}, pmid = {27518555}, issn = {1097-4172}, mesh = {Animals ; Biomedical Research ; Career Choice ; Drosophila/cytology/physiology ; Genetics/*history ; Germany ; History, 20th Century ; History, 21st Century ; Lebanon ; Motivation ; Neurons/cytology ; }, }
@article {pmid27500925, year = {2016}, author = {Disterer, P and Kay, MA and Parker, GC}, title = {Dieter C. Gruenert, PhD (1949-2016).}, journal = {Nucleic acid therapeutics}, volume = {26}, number = {4}, pages = {266-267}, doi = {10.1089/nat.2016.29002.par}, pmid = {27500925}, issn = {2159-3345}, mesh = {Cystic Fibrosis/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27470221, year = {2016}, author = {Moises, H}, title = {In memoriam of Professor Irving Gottesman (1930-2016).}, journal = {European archives of psychiatry and clinical neuroscience}, volume = {266}, number = {6}, pages = {581-582}, doi = {10.1007/s00406-016-0717-2}, pmid = {27470221}, issn = {1433-8491}, mesh = {Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Psychology, Clinical/history ; Schizophrenia/*history ; United States ; }, }
@article {pmid27460498, year = {2017}, author = {Charlesworth, B and Charlesworth, D}, title = {Population genetics from 1966 to 2016.}, journal = {Heredity}, volume = {118}, number = {1}, pages = {2-9}, pmid = {27460498}, issn = {1365-2540}, mesh = {Evolution, Molecular ; Genetic Drift ; Genetics, Population/*history/*trends ; History, 20th Century ; History, 21st Century ; Linkage Disequilibrium ; Models, Genetic ; Mutation ; Polymorphism, Genetic ; Selection, Genetic ; Sequence Analysis, DNA ; }, abstract = {We describe the astonishing changes and progress that have occurred in the field of population genetics over the past 50 years, slightly longer than the time since the first Population Genetics Group (PGG) meeting in January 1968. We review the major questions and controversies that have preoccupied population geneticists during this time (and were often hotly debated at PGG meetings). We show how theoretical and empirical work has combined to generate a highly productive interaction involving successive developments in the ability to characterise variability at the molecular level, to apply mathematical models to the interpretation of the data and to use the results to answer biologically important questions, even in nonmodel organisms. We also describe the changes from a field that was largely dominated by UK and North American biologists to a much more international one (with the PGG meetings having made important contributions to the increased number of population geneticists in several European countries). Although we concentrate on the earlier history of the field, because developments in recent years are more familiar to most contemporary researchers, we end with a brief outline of topics in which new understanding is still actively developing.}, }
@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 &quot;microgeographic races&quot; 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 {pmid27431856, year = {2016}, author = {Duda, P and Jan Zrzavý, }, title = {Human population history revealed by a supertree approach.}, journal = {Scientific reports}, volume = {6}, number = {}, pages = {29890}, pmid = {27431856}, issn = {2045-2322}, mesh = {Africa South of the Sahara ; Algorithms ; Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; Genetics, Population/*history ; History, Ancient ; Humans ; Linguistics ; *Phylogeny ; Whole Genome Sequencing ; }, abstract = {Over the past two decades numerous new trees of modern human populations have been published extensively but little attention has been paid to formal phylogenetic synthesis. We utilized the &quot;matrix representation with parsimony&quot; (MRP) method to infer a composite phylogeny (supertree) of modern human populations, based on 257 genetic/genomic, as well as linguistic, phylogenetic trees and 44 admixture plots from 200 published studies (1990-2014). The resulting supertree topology includes the most basal position of S African Khoisan followed by C African Pygmies, and the paraphyletic section of all other sub-Saharan peoples. The sub-Saharan African section is basal to the monophyletic clade consisting of the N African-W Eurasian assemblage and the consistently monophyletic Eastern superclade (Sahul-Oceanian, E Asian, and Beringian-American peoples). This topology, dominated by genetic data, is well-resolved and robust to parameter set changes, with a few unstable areas (e.g., West Eurasia, Sahul-Melanesia) reflecting the existing phylogenetic controversies. A few populations were identified as highly unstable &quot;wildcard taxa&quot; (e.g. Andamanese, Malagasy). The linguistic classification fits rather poorly on the supertree topology, supporting a view that direct coevolution between genes and languages is far from universal.}, }
@article {pmid27412297, year = {2017}, author = {Grodwohl, JB}, title = {&quot;The Theory was Beautiful Indeed&quot;: Rise, Fall and Circulation of Maximizing Methods in Population Genetics (1930-1980).}, journal = {Journal of the history of biology}, volume = {50}, number = {3}, pages = {571-608}, pmid = {27412297}, issn = {1573-0387}, mesh = {Biological Evolution ; Biology/history ; Dissent and Disputes/*history ; *Genetic Fitness ; Genetics, Population/*history/methods ; History, 20th Century ; *Models, Genetic ; Research Personnel/history ; *Selection, Genetic ; }, abstract = {Describing the theoretical population geneticists of the 1960s, Joseph Felsenstein reminisced: &quot;our central obsession was finding out what function evolution would try to maximize. Population geneticists used to think, following Sewall Wright, that mean relative fitness, W, would be maximized by natural selection&quot; (Felsenstein 2000). The present paper describes the genesis, diffusion and fall of this &quot;obsession&quot;, by giving a biography of the mean fitness function in population genetics. This modeling method devised by Sewall Wright in the 1930s found its heyday in the late 1950s and early 1960s, in the wake of Motoo Kimura's and Richard Lewontin's works. It seemed a reliable guide in the mathematical study of deterministic effects (the study of natural selection in populations of infinite size, with no drift), leading to powerful generalizations presenting law-like properties. Progress in population genetics theory, it then seemed, would come from the application of this method to the study of systems with several genes. This ambition came to a halt in the context of the influential objections made by the Australian mathematician Patrick Moran in 1963. These objections triggered a controversy between mathematically- and biologically-inclined geneticists, with affected both the formal standards and the aims of population genetics as a science. Over the course of the 1960s, the mean fitness method withered with the ambition of developing the deterministic theory. The mathematical theory became increasingly complex. Kimura re-focused his modeling work on the theory of random processes; as a result of his computer simulations, Lewontin became the staunchest critic of maximizing principles in evolutionary biology. The mean fitness method then migrated to other research areas, being refashioned and used in evolutionary quantitative genetics and behavioral ecology.}, }
@article {pmid27411511, year = {2016}, author = {Mäki-Tanila, A}, title = {Kalle Maijala 1927-2016.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {133}, number = {4}, pages = {252}, doi = {10.1111/jbg.12230}, pmid = {27411511}, issn = {1439-0388}, mesh = {Animals ; Breeding ; Cattle/*physiology ; Fertility ; Finland ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid27404040, year = {2016}, author = {Inouye, M}, title = {The first demonstration of RNA interference to inhibit mRNA function.}, journal = {Gene}, volume = {592}, number = {2}, pages = {332-333}, doi = {10.1016/j.gene.2016.07.024}, pmid = {27404040}, issn = {1879-0038}, mesh = {History, 20th Century ; Molecular Biology/history ; *RNA Interference ; RNA, Messenger/genetics ; }, abstract = {I review how RNA interference was discovered for the first time in 1984 in our laboratory.}, }
@article {pmid27390087, year = {2016}, author = {Inouye, M}, title = {The first attempt for the isolation of an intact mRNA for structure determination.}, journal = {Gene}, volume = {592}, number = {2}, pages = {331}, doi = {10.1016/j.gene.2016.07.005}, pmid = {27390087}, issn = {1879-0038}, mesh = {History, 20th Century ; Molecular Biology/history ; RNA, Bacterial/*chemistry/genetics/metabolism ; RNA, Messenger/*chemistry/genetics/metabolism ; }, abstract = {I review the history of the first mRNA which was isolated for the determination of its RNA sequence from Escherichia coli.}, }
@article {pmid27388255, year = {2016}, author = {Pow, S and Stahnisch, FW}, title = {Eugenics ideals, racial hygiene, and the emigration process of German-American neurogeneticist Franz Josef Kallmann (1897-1965).}, journal = {Journal of the history of the neurosciences}, volume = {25}, number = {3}, pages = {253-274}, doi = {10.1080/0964704X.2016.1187486}, pmid = {27388255}, issn = {1744-5213}, mesh = {Emigrants and Immigrants/*history ; Eugenics/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; National Socialism/*history ; Neurosciences/*history ; Racism/*history ; United States ; }, abstract = {Biological psychiatry in the early twentieth century was based on interrelated disciplines, such as neurology and experimental biology. Neuropsychiatrist Franz Josef Kallmann (1897-1965) was a product of this interdisciplinary background who showed an ability to adapt to different scientific contexts, first in the field of neuromorphology in Berlin, and later in New York. Nonetheless, having innovative ideas, as Kallmann did, could be an ambiguous advantage, since they could lead to incommensurable scientific views and marginalization in existing research programs. Kallmann followed his Dr. Med. degree (1919) with training periods at the Charité Medical School in Berlin under psychiatrist Karl Bonhoeffer (1868-1948). Subsequently, he collaborated with Ernst Ruedin (1874-1952), investigating sibling inheritance of schizophrenia and becoming a protagonist of genetic research on psychiatric conditions. In 1936, Kallmann was forced to immigrate to the USA where he published The Genetics of Schizophrenia (1938), based on data he had gathered from the district pathological institutes of Berlin's public health department. Kallmann resumed his role as an international player in biological psychiatry and genetics, becoming president (1952) of the American Society of Human Genetics and Director of the New York State Psychiatric Institute in 1955. While his work was well received by geneticists, the idea of genetic differences barely took hold in American psychiatry, largely because of émigré psychoanalysts who dominated American clinical psychiatry until the 1960s and established a philosophical direction in which genetics played no significant role, being regarded as dangerous in light of Nazi medical atrocities. After all, medical scientists in Nazi Germany had been among the social protagonists of racial hygiene which, under the aegis of Nazi philosophies, replaced medical genetics as the basis for the ideals and application of eugenics.}, }
@article {pmid27385352, year = {2016}, author = {Ben-Shaul, A and Knobler, CM and Liu, AJ}, title = {William M. Gelbart: An Appreciation.}, journal = {The journal of physical chemistry. B}, volume = {120}, number = {26}, pages = {5787-5788}, doi = {10.1021/acs.jpcb.6b03856}, pmid = {27385352}, issn = {1520-5207}, mesh = {*Chemistry, Physical/history ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; United States ; Workforce ; }, }
@article {pmid27385113, year = {2016}, author = {Ginnobili, S}, title = {Missing concepts in natural selection theory reconstructions.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {3}, pages = {8}, doi = {10.1007/s40656-016-0109-y}, pmid = {27385113}, issn = {0391-9714}, mesh = {Biology/*history ; *Genetic Fitness ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Biological ; *Selection, Genetic ; }, abstract = {The concept of fitness has generated a lot of discussion in philosophy of biology. There is, however, relative agreement about the need to distinguish at least two uses of the term: ecological fitness on the one hand, and population genetics fitness on the other. The goal of this paper is to give an explication of the concept of ecological fitness by providing a reconstruction of the theory of natural selection in which this concept was framed, that is, based on the way the theory was put to use in Darwin's main texts. I will contend that this reconstruction enables us to account for the current use of the theory of natural selection. The framework presupposed in the analysis will be that of metatheoretical structuralism. This framework will provide both a better understanding of the nature of ecological fitness and a more complete reconstruction of the theory. In particular, it will provide what I think is a better way of understanding how the concept of fitness is applied through heterogeneous cases. One of the major advantages of my way of thinking about natural selection theory is that it would not have the peculiar metatheoretical status that it has in other available views. I will argue that in order to achieve these goals it is necessary to make several concepts explicit, concepts that are frequently omitted in usual reconstructions.}, }
@article {pmid27384024, year = {2016}, author = {Dove, WF}, title = {Weaving a Tapestry from Threads Spun by Geneticists: The Series Perspectives on Genetics, 1987-2008.}, journal = {Genetics}, volume = {203}, number = {3}, pages = {1011-1022}, pmid = {27384024}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; *Peer Review, Research ; United States ; }, abstract = {The Perspectives column was initiated in 1987 when Jan Drake, Editor-in-Chief of GENETICS, invited Jim Crow and William Dove to serve as coeditors of &quot;Anecdotal, Historical, and Critical Commentaries.&quot; As the series evolved over 21 years, under the guidance of Crow and Dove, the input of stories told by geneticists from many countries created a panorama of 20th-century genetics. Three recurrent themes are visible: how geneticists have created the science (as solitary investigators, in pairs, or in cooperative groups); how geneticists work hard, but find ways to have fun; and how public and private institutions have sustained the science of genetics, particularly in the United States. This article ends by considering how the Perspectives series and other communication formats can carry forward the core science of genetics from the 20th into the 21st century.}, }
@article {pmid27381888, year = {2016}, author = {Kovarova, H and Gadher, SJ}, title = {Tribute to Michael Dunn for his dedication and contribution to proteomics and stem cell focus.}, journal = {Proteomics}, volume = {16}, number = {22}, pages = {2840-2841}, doi = {10.1002/pmic.201600040}, pmid = {27381888}, issn = {1615-9861}, mesh = {Europe, Eastern ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Periodicals as Topic ; *Proteomics/history/organization &amp; administration ; Societies, Scientific ; *Stem Cell Research ; United Kingdom ; }, }
@article {pmid27371602, year = {2016}, author = {Louis, EJ}, title = {Historical Evolution of Laboratory Strains of Saccharomyces cerevisiae.}, journal = {Cold Spring Harbor protocols}, volume = {2016}, number = {7}, pages = {}, doi = {10.1101/pdb.top077750}, pmid = {27371602}, issn = {1559-6095}, mesh = {*Evolution, Molecular ; Genetics, Microbial/history/*methods ; History, 20th Century ; History, 21st Century ; Microbiological Techniques/history/*methods ; Molecular Biology/history/*methods ; Saccharomyces cerevisiae/*genetics ; }, abstract = {Budding yeast strains used in the laboratory have had a checkered past. Historically, the choice of strain for any particular experiment depended on the suitability of the strain for the topic of study (e.g., cell cycle vs. meiosis). Many laboratory strains had poor fermentation properties and were not representative of the robust strains used for domestic purposes. Most strains were related to each other, but investigators usually had only vague notions about the extent of their relationships. Isogenicity was difficult to confirm before the advent of molecular genetic techniques. However, their ease of growth and manipulation in laboratory conditions made them &quot;the model&quot; model organism, and they still provided a great deal of fundamental knowledge. Indeed, more than one Nobel Prize has been won using them. Most of these strains continue to be powerful tools, and isogenic derivatives of many of them-including entire collections of deletions, overexpression constructs, and tagged gene products-are now available. Furthermore, many of these strains are now sequenced, providing intimate knowledge of their relationships. Recent collections, new isolates, and the creation of genetically tractable derivatives have expanded the available strains for experiments. But even still, these laboratory strains represent a small fraction of the diversity of yeast. The continued development of new laboratory strains will broaden the potential questions that can be posed. We are now poised to take advantage of this diversity, rather than viewing it as a detriment to controlled experiments.}, }
@article {pmid27350696, year = {2016}, author = {Arnold, ML}, title = {In memoriam: Richard (Rick) G. Harrison-benefactor for evolutionary biologists.}, journal = {Journal of genetics}, volume = {95}, number = {2}, pages = {479-480}, pmid = {27350696}, issn = {0973-7731}, mesh = {Ecology/*history ; Genetic Speciation ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; Workforce ; }, }
@article {pmid27334364, year = {2016}, author = {Matsuura, S}, title = {Obituary: a eulogy to the late Professor Tadashi Kajii (1929-2016).}, journal = {Journal of human genetics}, volume = {61}, number = {8}, pages = {677}, doi = {10.1038/jhg.2016.77}, pmid = {27334364}, issn = {1435-232X}, mesh = {*Famous Persons ; *Genetics, Medical/history ; History, 20th Century ; Humans ; Japan ; United States ; }, }
@article {pmid27325060, year = {2016}, author = {Paleček, P}, title = {Vítězslav Orel (1926-2015): Gregor Mendel's biographer and the rehabilitation of genetics in the Communist Bloc.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {3}, pages = {4}, doi = {10.1007/s40656-016-0104-3}, pmid = {27325060}, issn = {0391-9714}, mesh = {*Biographies as Topic ; Communism/history ; Czechoslovakia ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {At almost 90 years of age, we have lost the author of the founding historical works on Johann Gregor Mendel. Vítězslav Orel served for almost 30 years as the editor of the journal Folia Mendeliana. His work was beset by the wider problems associated with Mendel's recognition in the Communist Bloc, and by the way in which narratives of the history of science could be co-opted into the service of Cold War and post-Cold War political agendas. Orel played a key role in the organization of the Mendel symposium of 1965 in Brno, and has made a strong contribution to the rehabilitation of genetics generally, and to championing the work of Johann Gregor Mendel in particular. With Jaroslav Kříženecký, he cofounded the Mendelianum in Brno, which for decades has served as an intellectual bridge between the East and West. Orel's involvement with this institution exposed him to dangers both during and after the Cold War.}, }
@article {pmid27324306, year = {2016}, author = {}, title = {Editorial.}, journal = {Gene}, volume = {589}, number = {2}, pages = {99}, doi = {10.1016/j.gene.2016.06.002}, pmid = {27324306}, issn = {1879-0038}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27305745, year = {2016}, author = {Sagie, S and Monovich, E}, title = {[MARY LYON (1925-2014) AND THE RANDOM INACTIVATION OF CHROMOSOME X].}, journal = {Harefuah}, volume = {155}, number = {3}, pages = {140-4, 197}, pmid = {27305745}, issn = {0017-7768}, mesh = {Animals ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Mice ; Molecular Biology/history ; X Chromosome/*genetics ; X Chromosome Inactivation/*genetics ; }, abstract = {Since the beginning of the last century, genetic research has been preoccupied with the dosage compensation question: What mechanism controls equal expression of chromosome X genes between females and males? In the 1950s, many discoveries occurred in the field of cytogenetics related to the sex chromatin of female mammals. Concomitantly, genetic information accumulated with regard to expression patterns of X-linked genes in female mice and the expression effect of translocations between chromosome X and autosomes. In addition, many case reports were published about families with sex-linked diseases. The lately deceased scientist Mary F. Lyon suggested a unifying theory of these findings. In her articles &quot;Gene action in the X-chromosome of the mouse (Mus musculus L.T in 1961, and &quot;Sex chromatin and gene action in the mammalian X-chromosome&quot; in 1962, she suggested that: (1) the heteropyknotic chromosome X was genetically inactivated, (2) the inactivated chromosome X could be either paternal or maternal in origin in different cells of the same animal, and (3) the inactivation occurred early in embryonic development. This theory led to an immediate breakthrough in understanding the basic mechanisms responsible for X-linked diseases and solved many unexplained case studies. Moreover, the inquiry of the mechanism of the phenomenon promoted scientific understanding of a wide range of areas in molecular biology such as DNA methylation, the silencing mechanism by XIST, histone modifications, DNA replication timing and more. The current article deals with some biographical details about Mary F. Lyon, the background of her theory, her historical articles and the development of the field since.}, }
@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 {pmid27289454, year = {2016}, author = {Dujon, B and Pelletier, G}, title = {Foreword.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {223-224}, doi = {10.1016/j.crvi.2016.05.006}, pmid = {27289454}, issn = {1768-3238}, mesh = {DNA/chemistry/genetics/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, }
@article {pmid27281929, year = {2016}, author = {}, title = {[Ya.B. BLUME (on the occasion of the 60th anniversary of the birth)].}, journal = {TSitologiia i genetika}, volume = {50}, number = {2}, pages = {83-84}, pmid = {27281929}, issn = {0564-3783}, mesh = {Biotechnology/*history/organization &amp; administration ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/organization &amp; administration ; Plants, Genetically Modified/genetics/growth &amp; development ; Ukraine ; }, }
@article {pmid27270696, year = {2016}, author = {Fantes, PA and Hoffman, CS}, title = {A Brief History of Schizosaccharomyces pombe Research: A Perspective Over the Past 70 Years.}, journal = {Genetics}, volume = {203}, number = {2}, pages = {621-629}, pmid = {27270696}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Schizosaccharomyces/*genetics ; }, abstract = {Since its humble start as a model organism in two European laboratories in the 1940s and 1950s, the fission yeast Schizosaccharomyces pombe has grown to become one of the best-studied eukaryotes today. This article outlines the way in which interest in S. pombe developed and spread from Europe to Japan, North America, and elsewhere from its beginnings up to the first International Meeting devoted to this yeast in 1999. We describe the expansion of S. pombe research during this period with an emphasis on many of the individual researchers involved and their interactions that resulted in the development of today's vibrant community.}, }
@article {pmid27266188, year = {2016}, author = {Volkov, RA and Rudenko, SS}, title = {[WAR AND WORLD OF ERWIN CHARGAFF (DEDICATED TO 110 ANNIVERSARY OF BIRTH)].}, journal = {TSitologiia i genetika}, volume = {50}, number = {1}, pages = {80-87}, pmid = {27266188}, issn = {0564-3783}, mesh = {Ethics, Research/*history ; Europe ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Moral Obligations ; United States ; World War I ; World War II ; }, abstract = {The article shortly describes the life path of Erwin Chargaff, one of the most famous figures in the history of molecular biology and genetics. Chargaff was born in Chernivtsi (Austria-Hungary, now Ukraine) but during the First World War his family was forced to move to Vienna. After graduating from the University of Vienna, Chargaff worked in Berlin, where he studied bacterial lipids. Due to Nazis coming to power in Germany, Chargaff moved to Paris and later (1935) emigrated to the USA and obtained a position at Columbia University, where he initially investigated the role of phospholipids in blood clotting. In 1944, applying novel methods Chargaff initiated intensive investigation of the chemical composition of nucleic acids from taxonomically distant species and established two rules which were later named after him. The first Chargaff's rule provided a significant support to Watson and Crick in construction of their double helical DNA model. The explosion of atomic bombs over Hiroshima and Nagasaki forced Chargaff to think about the moral responsibility of researchers and science to mankind. He begins to raise these issues in the press and manifests himself as a talented journalist, who criticized the bureaucratization of science and its transformation into a way of earning money. Despite decades of life in America, spiritually Erwin Chargaff always remained a European, who never forgot his roots and always remembered his native land.}, }
@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 {pmid27263360, year = {2016}, author = {Weissenbach, J}, title = {The rise of genomics.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {231-239}, doi = {10.1016/j.crvi.2016.05.002}, pmid = {27263360}, issn = {1768-3238}, mesh = {Animals ; Computational Biology ; DNA/genetics ; Evolution, Molecular ; Genome ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {A brief history of the development of genomics is provided. Complete sequencing of genomes of uni- and multicellular organisms is based on important progress in sequencing and bioinformatics. Evolution of these methods is ongoing and has triggered an explosion in data production and analysis. Initial analyses focused on the inventory of genes encoding proteins. Completeness and quality of gene prediction remains crucial. Genome analyses profoundly modified our views on evolution, biodiversity and contributed to the detection of new functions, yet to be fully elucidated, such as those fulfilled by non-coding RNAs. Genomics has become the basis for the study of biology and provides the molecular support for a bunch of large-scale studies, the omics.}, }
@article {pmid27263195, year = {2015}, author = {Olopade, OF}, title = {JANET DAVISON ROWLEY.}, journal = {Proceedings of the American Philosophical Society}, volume = {159}, number = {3}, pages = {355-359}, pmid = {27263195}, issn = {0003-049X}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Leukemia/*genetics ; *Translocation, Genetic ; United States ; }, }
@article {pmid27261252, year = {2016}, author = {González-Rubio, C and García-De León, FJ and Rodríguez-Estrella, R}, title = {Phylogeography of endemic Xantus' hummingbird (Hylocharis xantusii) shows a different history of vicariance in the Baja California Peninsula.}, journal = {Molecular phylogenetics and evolution}, volume = {102}, number = {}, pages = {265-277}, doi = {10.1016/j.ympev.2016.05.039}, pmid = {27261252}, issn = {1095-9513}, mesh = {Animals ; Birds/*classification/genetics ; Cytochromes b/chemistry/genetics/metabolism ; DNA, Mitochondrial/chemistry/genetics/metabolism ; *Genetic Variation ; Haplotypes ; History, Ancient ; Mexico ; NADH Dehydrogenase/chemistry/genetics/metabolism ; Phylogeny ; Phylogeography/history ; }, abstract = {Studies of phylogeographic patterns provide insight into the processes driving lineage divergence in a particular region. To identify the processes that caused phylogeographic breaks, it is necessary to use historical information and a set of appropriate molecular data to explain current patterns. To understand the influence of geological or ecological processes on the phylogeography of the only species of hummingbird endemic to the Baja California Peninsula, Hylocharis xantusii, mitochondrial DNA sequences of three concatenated genes (Cyt-b, COI and ND2; 2297bp in total) in 100 individuals were analyzed. The spatial analyses of genetic variation showed phylogeographic structure consisting of a north, central and south regions. According to estimated divergence times, two vicariant events are supported, permanent separation of the peninsula and formation of the Gulf of California at 5mya and temporary isolation of the southern region at the Isthmus of La Paz at 3mya. The temporal frame of genetic differentiation of intraspecific haplotypes indicates that 90% of haplotypes diverged within the last 500,000years, with a population expansion 80,000years ago. Only four haplotypes diverged ∼2.2 my and occurred in the south (Hxan_36, 38 and 45), and north (Hxan_45 and 56) regions; only haplotype 45 is shared between south and north populations. These regions also have the most recent haplotypes from 12,500 to 16,200years ago, and together with high levels of genetic diversity, we suggest two refuge areas, the Northern and Southern regions. Our results indicate that the phylogeographic pattern first results from vicariance processes, then is followed by historical and recent climate fluctuations that influenced conditions on the peninsula, and it is also related to oases distribution. This study presents the first investigation of phylogeography of the peninsular' endemic Xantus' hummingbird.}, }
@article {pmid27255851, year = {2016}, author = {}, title = {Strength in shoulders.}, journal = {Nature plants}, volume = {2}, number = {6}, pages = {16091}, doi = {10.1038/nplants.2016.91}, pmid = {27255851}, issn = {2055-0278}, mesh = {Botany/*history ; Genetics/*history ; *Genome, Plant ; Hevea/*genetics ; History, 20th Century ; History, 21st Century ; Petunia/*genetics ; }, }
@article {pmid27255845, year = {2016}, author = {van der Krol, AR and Immink, RG}, title = {Secrets of the world's most popular bedding plant unlocked.}, journal = {Nature plants}, volume = {2}, number = {6}, pages = {16082}, doi = {10.1038/nplants.2016.82}, pmid = {27255845}, issn = {2055-0278}, mesh = {*Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Petunia/genetics/*physiology ; *Pigmentation ; }, }
@article {pmid27246100, year = {2016}, author = {Freitas, S and Rocha, S and Campos, J and Ahmadzadeh, F and Corti, C and Sillero, N and Ilgaz, Ç and Kumlutaş, Y and Arakelyan, M and Harris, DJ and Carretero, MA}, title = {Parthenogenesis through the ice ages: A biogeographic analysis of Caucasian rock lizards (genus Darevskia).}, journal = {Molecular phylogenetics and evolution}, volume = {102}, number = {}, pages = {117-127}, doi = {10.1016/j.ympev.2016.05.035}, pmid = {27246100}, issn = {1095-9513}, mesh = {Animals ; Area Under Curve ; Cytochromes b/classification/genetics ; DNA, Mitochondrial/isolation &amp; purification/metabolism ; Haplotypes ; History, Ancient ; Hybridization, Genetic ; Lizards/classification/*genetics/metabolism ; NADH Dehydrogenase/classification/genetics ; Parthenogenesis/*genetics ; Phylogeny ; Phylogeography/history ; ROC Curve ; }, abstract = {Darevskia rock lizards include both sexual and parthenogenetic species, mostly distributed in the heterogeneous and ecologically diverse Caucasus. The parthenogenetic species originated via directional hybridogenesis, with only some of the sexual species known to serve as parentals. However, it remains unclear when and where these events happened and how many parental lineages were involved. A multilocus phylogeographic analysis was performed on the parthenogens D. unisexualis, D. bendimahiensis and D. uzzeli, and their putative maternal species D. raddei. Results show the parthenogenetic species all have relatively recent origins, approximately 200-70kyr ago, and at least three hybridization events were involved in their formation. Ecological niche models identify the region where hybridization events leading to the formation of D. unisexualis took place, namely in the northeast of the current distribution. Models also suggest that the sexual D. raddei might have undergone a habitat shift between the Last Interglacial and the Last Glacial Maximum.}, }
@article {pmid27245547, year = {2016}, author = {Hayden, M}, title = {A true mentor and pioneer in medical genetics.}, journal = {South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, volume = {106}, number = {6 Suppl 1}, pages = {S7-9}, doi = {10.7196/SAMJ.2016.v106i6.11022}, pmid = {27245547}, issn = {0256-9574}, mesh = {Career Choice ; Genetics, Medical/*history ; History, 20th Century ; Humans ; *Mentors ; }, }
@article {pmid27245520, year = {2016}, author = {Smart, RD and Schutte, G and Ruppelt, T and Greenberg, LJ}, title = {Cytogenetics at the University of Cape Town: A 45-year journey.}, journal = {South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, volume = {106}, number = {6 Suppl 1}, pages = {S29-32}, doi = {10.7196/SAMJ.2016.v106i6.10987}, pmid = {27245520}, issn = {0256-9574}, mesh = {Cytogenetic Analysis/*history ; Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Hospitals ; Humans ; Laboratories/*history ; South Africa ; Universities ; }, abstract = {This article is a brief record of the cytogenetics laboratory from its birth in 1971, under the auspices of the University of Cape Town, throughout its development within the Department of Human Genetics, under the leadership of Professor Peter Beighton, to its present position at Groote Schuur Hospital, as a multidisciplinary unit run by the National Health Laboratory Service.}, }
@article {pmid27240976, year = {2016}, author = {Tamura, K}, title = {Toward the 'new century' of handedness in biology: In commemoration of the 100th anniversary of the birth of Francis Crick.}, journal = {Journal of biosciences}, volume = {41}, number = {2}, pages = {169-170}, pmid = {27240976}, issn = {0973-7138}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27228359, year = {2016}, author = {Singh, RS}, title = {Science beyond boundary: are premature discoveries things of the past?.}, journal = {Genome}, volume = {59}, number = {6}, pages = {433-437}, doi = {10.1139/gen-2016-0056}, pmid = {27228359}, issn = {1480-3321}, mesh = {Biological Evolution ; Biology/*history ; Genetic Research/*history ; History, 19th Century ; Humans ; Imagination ; *Knowledge Discovery ; Science/history ; }, abstract = {Mendel's name more than of any other draws our attention to the personal side in terms of success and failure in science. Mendel lived 19 years after presenting his research findings and died without receiving any recognition for his work. Are premature discoveries things of the past, you may ask? I review the material basis of science in terms of science boundary and field accessibility and analyze the possibility of premature discoveries in different fields of science such as, for example, physics and biology. I conclude that science has reached a stage where progress is being made mostly by pushing the boundary of the known from inside than by leaping across boundaries. As more researchers become engaged in science, and as more publications become open access, on-line, and interactive, the probability of an important discovery remaining buried and going unrecognized would become exceedingly small. Of course, as examples from physics show, a new theory or an important idea can always lie low, unrecognized until it becomes re-discovered and popularized by other researchers. Thus, premature discoveries will become less likely but not forbidden.}, }
@article {pmid27226047, year = {2016}, author = {Helbig, I and Heinzen, EL and Mefford, HC and , }, title = {Primer Part 1-The building blocks of epilepsy genetics.}, journal = {Epilepsia}, volume = {57}, number = {6}, pages = {861-868}, doi = {10.1111/epi.13381}, pmid = {27226047}, issn = {1528-1167}, mesh = {Epilepsy/epidemiology/*genetics/history ; Genetic Predisposition to Disease ; Genetic Variation/genetics ; History, 20th Century ; Humans ; *Molecular Epidemiology/history ; }, abstract = {This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies.}, }
@article {pmid27220862, year = {2016}, author = {Miller, CR and Wichman, HA}, title = {Obituary: Paul Joyce (1958-2016).}, journal = {Biology letters}, volume = {12}, number = {5}, pages = {}, doi = {10.1098/rsbl.2016.0396}, pmid = {27220862}, issn = {1744-957X}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Models, Biological ; United States ; }, }
@article {pmid27220742, year = {2016}, author = {Biesecker, BB}, title = {The Greatest Priority for Genetic Counseling: Effectively Meeting Our Clients' Needs 2014 NSGC Natalie Weissberger Paul National Achievement Award.}, journal = {Journal of genetic counseling}, volume = {25}, number = {4}, pages = {621-624}, pmid = {27220742}, issn = {1573-3599}, support = {ZIA HG200317-13//Intramural NIH HHS/United States ; }, mesh = {*Awards and Prizes ; Female ; Genetic Counseling/*history ; History, 20th Century ; History, 21st Century ; Humans ; Societies, Medical ; United States ; }, abstract = {Receipt of the 2014 Natalie Weissberger Paul (NWP) National Achievement Award was a highlight of my career. Thank you to all who nominated me for this prestigious NSGC recognition. I am humbled to join past NWP award winners many of whom are admired mentors, treasured colleagues and friends. I would like to express what a privilege it is to honor Natalie Weissberger Paul for whom this award is named. Twenty-nine years ago I co-edited a volume of the Birth Defects Original Article Series with Natalie summarizing a conference co-funded by the March of Dimes and NSGC (Biesecker et al., 1987). Natalie demonstrated her devotion to children with special needs through her work at the March of Dimes. As such I believe she would concur with the focus of my remarks on the partners in our work: our clients.}, }
@article {pmid27193642, year = {2016}, author = {Radick, G}, title = {Teach students the biology of their time.}, journal = {Nature}, volume = {533}, number = {7603}, pages = {293}, doi = {10.1038/533293a}, pmid = {27193642}, issn = {1476-4687}, mesh = {Biology/*education/history/*trends ; Curriculum/*trends ; Gene-Environment Interaction ; Genetics/education/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humanities/education ; Humans ; Models, Genetic ; Prejudice ; Students/*psychology ; }, }
@article {pmid27191726, year = {2016}, author = {Racine, V}, title = {The mechanistic-holistic divide revisited: The case of the lac operon.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {59}, number = {}, pages = {1-10}, doi = {10.1016/j.shpsc.2016.05.001}, pmid = {27191726}, issn = {1879-2499}, mesh = {History, 20th Century ; History, 21st Century ; *Lac Operon ; *Models, Genetic ; Molecular Biology/*history ; }, abstract = {In this paper, I revisit the development of the repression model of genetic regulation in the lac operon to challenge a common application of a conceptual framework in the history of biology. I take Allen's (1978) account of the changes in the life sciences during the early and mid-twentieth century as an example of a common application of a framework based on the dichotomy between a mechanistic, or reductionist, approach to science and a holistic one. From this conceptual framework, Allen infers two general claims about the process of science and its goals: (1) that &quot;mechanistic materialism&quot; has often presented a more practical way to begin the study of complex phenomena in the life sciences, and (2) that the approach described as &quot;holistic materialism&quot; provides a more complete or accurate description of the natural world. The development of the lac operon model does not fit Allen's generalizations about scientific developments, and it can be used to cast some doubt on the scope of application of that conceptual framework. I argue that a better framework to interpret particular episodes in the history of molecular biology is to consider the ways in which biologists prioritize and track different aspects of the phenomena under study, rather than to focus on whether certain scientific practices are best described as developing from mechanistic to more holistic approaches. I end with some implications for the historiography of science by considering the appropriateness of different conceptual frameworks for different grains of resolution in the history of biology.}, }
@article {pmid27183799, year = {2016}, author = {Gubina, MA and Kulikov, IV and Babenko, VN and Chikisheva, TA and Romaschenko, AG and Voevoda, MI and Molodin, VI}, title = {[The Dynamics of the Composition of mtDNA Haplotypes of the Ancient Population of the Altai Mountains from the Early Bronze Age (3rd Millennium BC) to the Iron Age (2nd-1st Centuries BC)].}, journal = {Genetika}, volume = {52}, number = {1}, pages = {106-119}, pmid = {27183799}, issn = {0016-6758}, mesh = {DNA, Mitochondrial/*genetics ; Genetics, Population/*history ; Haplotypes ; History, Ancient ; Humans ; Kazakhstan ; Mitochondria/genetics ; *Paleontology ; Polymorphism, Genetic ; Russia ; }, abstract = {The mtDNA polymorphism in representatives of various archaeological cultures of the Developed Bronze Age, Early Scythian, and Hunnish-Sarmatian periods was analyzed (N = 34). It detected the dominance of Western-Eurasian haplotypes (70.6%) in mtDNA samples from the representatives of the ancient population of the Early Bronze Age--Iron Age on the territory of Altai Mountains. Since the 8th to the 7th centuries BC, a sharp increase was revealed in the Eastern-Eurasian haplogroups A, D, C, andZ (43.75%) as compared to previous cultures (16.7%). The presence of haplotype 223-242-290-319 of haplogroup A8 in Dolgans, Itelmens, Evens, Koryaks, and Yakuts indicates the possible long-term presence of its carriers in areas inhabited by these populations. The prevalence of Western-Eurasian haplotypes is observed not only in the Altai Mountains but also in Central Asia (Kazakhstan) and the South of the Krasnoyarsk Krai. All of the three studied samples from the Western-Eurasian haplogroups were revealed to contain U, H, T, and HV. The ubiquitous presence of haplotypes of haplogroup H and some haplogroups of cluster U (U5al, U4, U2e, and K) in the vast territory from the Yenisei River basin to the Atlantic Ocean may indicate the direction of human settlement, which most likely occurred in the Paleolithic Period from Central Asia.}, }
@article {pmid27183563, year = {2016}, author = {Strauss, BS}, title = {Biochemical Genetics and Molecular Biology: The Contributions of George Beadle and Edward Tatum.}, journal = {Genetics}, volume = {203}, number = {1}, pages = {13-20}, pmid = {27183563}, issn = {1943-2631}, mesh = {*Biochemistry/history ; Famous Persons ; *Genetics/history ; History, 20th Century ; *Molecular Biology/history ; Proteins/chemistry/genetics/metabolism ; }, }
@article {pmid27183561, year = {2016}, author = {de Koning, DJ}, title = {Meuwissen et al. on Genomic Selection.}, journal = {Genetics}, volume = {203}, number = {1}, pages = {5-7}, pmid = {27183561}, issn = {1943-2631}, mesh = {Animals ; Breeding ; Genetic Markers ; *Genetics/history ; *Genome ; History, 21st Century ; Humans ; Linkage Disequilibrium ; Quantitative Trait Loci ; Quantitative Trait, Heritable ; *Selection, Genetic ; }, }
@article {pmid27183560, year = {2016}, author = {Churchill, GA}, title = {Eric Lander and David Botstein on Mapping Quantitative Traits.}, journal = {Genetics}, volume = {203}, number = {1}, pages = {1-3}, pmid = {27183560}, issn = {1943-2631}, support = {P30 CA034196/CA/NCI NIH HHS/United States ; }, mesh = {*Chromosome Mapping ; *Genetics/history ; History, 20th Century ; *Quantitative Trait Loci ; *Quantitative Trait, Heritable ; }, }
@article {pmid27176747, year = {2016}, author = {Plebani, M and Jahnke, H}, title = {In Memoriam: Gérard Siest (1936-2016).}, journal = {Clinical chemistry and laboratory medicine}, volume = {54}, number = {7}, pages = {1115-1116}, doi = {10.1515/cclm-2016-0312}, pmid = {27176747}, issn = {1437-4331}, mesh = {Clinical Laboratory Services/*history ; France ; History, 20th Century ; History, 21st Century ; Humans ; Medical Laboratory Personnel/*history ; Molecular Biology/*history ; Pharmacology/*history ; }, }
@article {pmid27148798, year = {2016}, author = {Noon, SE and Deardorff, MA and Krantz, ID}, title = {Dr. Laird G. Jackson Festschrift.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {172}, number = {2}, pages = {72-75}, doi = {10.1002/ajmg.c.31499}, pmid = {27148798}, issn = {1552-4876}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid27147253, year = {2016}, author = {Motulsky, AG and King, MC}, title = {The Great Adventure of an American Human Geneticist.}, journal = {Annual review of genomics and human genetics}, volume = {17}, number = {}, pages = {1-15}, doi = {10.1146/annurev-genom-083115-022528}, pmid = {27147253}, issn = {1545-293X}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, abstract = {It is my great pleasure to have been asked by the Editorial Committee of the Annual Review of Genomics and Human Genetics to write a short autobiography of my life in genetics over the past 70 years. It has been a great adventure. I came both to America and to human genetics by a circuitous and ultimately very fortunate route. I hope the next generation of geneticists will enjoy reading about it.}, }
@article {pmid27145221, year = {2016}, author = {Howard, DJ and Grosberg, RK and Noor, MA and Normark, BB and Rand, DM and Shaw, KL and Willett, CS}, title = {In memoriam: Richard G. Harrison - his life and legacy.}, journal = {Molecular ecology}, volume = {25}, number = {11}, pages = {2333-2336}, doi = {10.1111/mec.13687}, pmid = {27145221}, issn = {1365-294X}, mesh = {Animals ; Genetics/*history ; Gryllidae/genetics ; History, 20th Century ; History, 21st Century ; *Hybridization, Genetic ; }, abstract = {Richard G. Harrison passed away unexpectedly on April 12th, 2016. In this memoriam we pay tribute to the life and legacy of an extraordinary scientist, mentor, friend, husband, and father.}, }
@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 {pmid27119566, year = {2016}, author = {Doetsch, PW}, title = {Robert J. Suhadolnik (1925-2016).}, journal = {Journal of interferon &amp; cytokine research : the official journal of the International Society for Interferon and Cytokine Research}, volume = {36}, number = {5}, pages = {277-278}, pmid = {27119566}, issn = {1557-7465}, mesh = {Anti-Bacterial Agents/chemistry ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Nucleosides/chemistry ; Philadelphia ; Universities ; }, }
@article {pmid27114495, year = {2016}, author = {Powell, K}, title = {Martin Jonikas: Bringing high-throughput genetics to photosynthesis.}, journal = {The Journal of cell biology}, volume = {213}, number = {2}, pages = {139-140}, pmid = {27114495}, issn = {1540-8140}, mesh = {Cell Biology/*history ; Chlamydomonas reinhardtii/genetics ; Gene Library ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mutation ; *Photosynthesis ; Protein Folding ; }, }
@article {pmid27097009, year = {2016}, author = {Teive, HA}, title = {On the centenary of the birth of Francis H. C. Crick - from physics to genetics and neuroscience.}, journal = {Arquivos de neuro-psiquiatria}, volume = {74}, number = {4}, pages = {351-353}, doi = {10.1590/0004-282X20160029}, pmid = {27097009}, issn = {1678-4227}, mesh = {Basal Ganglia/physiology ; DNA/history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; Nobel Prize ; }, abstract = {The year 2016 marks the centenary of the birth of Francis Crick (1916-2004), who made outstanding contributions to genetics and neuroscience. In 1953, in a collaborative study, Francis Crick and James Watson discovered the DNA double helix, and in 1962 they and Maurice Wilkins were awarded the Noble Prize in Physiology or Medicine. Crick subsequently became very interested in neuroscience, particularly consciousness and its relationship to the claustrum, a small gray matter structure between the insula and putamen.}, }
@article {pmid27096727, year = {2016}, author = {Valverde, KD and Eunpu, D and Harasink, SM and Koch, S and Weinblatt, VJ}, title = {Laird Jackson: Role model, mentor and friend.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {172}, number = {2}, pages = {80-82}, doi = {10.1002/ajmg.c.31483}, pmid = {27096727}, issn = {1552-4876}, mesh = {Genetic Counseling/organization &amp; administration ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; United States ; }, }
@article {pmid27094622, year = {2017}, author = {Xu, C and Duan, Z}, title = {The development of Chinese population genetics by Ruofu Du.}, journal = {Protein &amp; cell}, volume = {8}, number = {1}, pages = {1-3}, pmid = {27094622}, issn = {1674-8018}, mesh = {Animals ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; }, }
@article {pmid27072052, year = {2016}, author = {Mowbray, J and Stalmans, W}, title = {Professor Giorgio Semenza.}, journal = {FEBS letters}, volume = {590}, number = {7}, pages = {883-884}, doi = {10.1002/1873-3468.12150}, pmid = {27072052}, issn = {1873-3468}, mesh = {Animals ; Awards and Prizes ; Biochemistry/*history ; Biological Science Disciplines/history ; Biomedical Research/*history ; Cell Membrane/physiology ; Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Humans ; Italy ; Leadership ; Molecular Medicine/*history ; Periodicals as Topic ; Switzerland ; }, }
@article {pmid27053120, year = {2016}, author = {Ewens, WJ}, title = {Motoo Kimura and James Crow on the Infinitely Many Alleles Model.}, journal = {Genetics}, volume = {202}, number = {4}, pages = {1243-1245}, pmid = {27053120}, issn = {1943-2631}, mesh = {*Alleles ; Genetic Variation ; Genetics, Population ; History, 20th Century ; *Models, Genetic ; *Molecular Biology/history ; }, }
@article {pmid27048440, year = {2016}, author = {Opitz, JM and Pavone, L and Corsello, G}, title = {The power of stories in Pediatrics and Genetics.}, journal = {Italian journal of pediatrics}, volume = {42}, number = {}, pages = {35}, pmid = {27048440}, issn = {1824-7288}, mesh = {Animals ; Books/*history ; *Child Development ; Genetics/*history ; History, 19th Century ; Humans ; Infant ; Insecta/*genetics ; Pediatrics/history ; Plants/*genetics ; United States ; }, abstract = {On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was &quot;Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel&quot;. The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world.}, }
@article {pmid27040148, year = {2016}, author = {Tsunewaki, K}, title = {Memoir on the origin of wheat stocks used by Prof. Tetsu Sakamura, on the centennial of his discovery of the correct chromosome number and polyploidy in wheat.}, journal = {Genes &amp; genetic systems}, volume = {91}, number = {1}, pages = {41-46}, doi = {10.1266/ggs.15-00077}, pmid = {27040148}, issn = {1880-5779}, mesh = {Chromosomes, Plant/*genetics ; Genetics/*history ; Genome, Plant ; History, 20th Century ; History, 21st Century ; Polyploidy ; Triticum/*genetics ; }, abstract = {Sakamura (1918) reported the discovery of a polyploid series among eight species of the genus Triticum; this series consisted of 2x, 4x and 6x species with 2n = 14, 28 and 42 chromosomes, respectively. He mentioned in this article that all the materials he used were gifted by T. Minami of the same department of Hokkaido University, Japan. In addition to carrying out an extensive collection of cereal germplasms in the period 1914 to 1916, Minami wrote on October 7, 1915 to K. A. Flaksberger, a wheat taxonomist at the Bureau of Applied Botany, Saint Petersburg, Russia, requesting seeds of Russian wheat and other cereals. He sent Flaksberger a letter of acknowledgement for seed stocks on May 19, 1916; thus, the requested seed package must have arrived from Flaksberger at some time between October 7, 1915 and May 19, 1916. Based on the available documents, there was a considerable period of time between these seed stocks reaching Minami and Sakamura's publication of the chromosome numbers with the discovery of polyploidy. In fact, the wheat species identified by Flaksberger (1915) and those studied by Sakamura (1918) were identical except for two wild species which appeared only in Flaksberger's list. The available information supports a proposal that the wheat species used by Sakamura (1918) in his discovery of polyploidy, and later by Kihara (1924, 1930) in his genome analysis, originated from Flaksberger's collection.}, }
@article {pmid27035804, year = {2016}, author = {Jackson, S}, title = {Jean-Laurent Casanova honored with the 2016 ASCI/Stanley J. Korsmeyer Award.}, journal = {The Journal of clinical investigation}, volume = {126}, number = {4}, pages = {1137-1138}, pmid = {27035804}, issn = {1558-8238}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Infection Control/history/methods ; Infections/*genetics/immunology ; }, }
@article {pmid27033066, year = {2016}, author = {Salmena, L}, title = {PTEN: History of a Tumor Suppressor.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1388}, number = {}, pages = {3-11}, doi = {10.1007/978-1-4939-3299-3_1}, pmid = {27033066}, issn = {1940-6029}, mesh = {Chromosomes, Human ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Neoplasms/*metabolism/pathology ; PTEN Phosphohydrolase/chemistry/genetics/history/*metabolism ; }, abstract = {Starting from the discovery of &quot;inhibitory chromosomes&quot; by Theodor Boveri to the finding by Henry Harris that fusing a normal cell to a cancer cell reduced tumorigenic potential, the notion of tumor suppression was recognized well before any tumor-suppressor genes were discovered. Although not the first to be revealed, PTEN has been demonstrated to be one of the most frequently altered tumor suppressors in cancer. This introductory chapter provides a historical perspective on our current understanding of PTEN including some of the seminal discoveries in the tumor suppressor field, the events leading to PTEN's discovery, and an introduction to some of the most important researchers and their studies which have shed light on PTEN biology and function as we know it today.}, }
@article {pmid27030029, year = {2016}, author = {}, title = {Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton.}, journal = {Human mutation}, volume = {37}, number = {6}, pages = {598-615}, doi = {10.1002/humu.22990}, pmid = {27030029}, issn = {1098-1004}, mesh = {Genetic Diseases, Inborn/genetics/*history ; Genome, Human/*genetics ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Mutation ; }, }
@article {pmid27027134, year = {2015}, author = {Dutta, A}, title = {Anindya Dutta.}, journal = {Current biology : CB}, volume = {25}, number = {23}, pages = {R1112-4}, doi = {10.1016/j.cub.2015.10.035}, pmid = {27027134}, issn = {1879-0445}, mesh = {Biochemistry/*history ; *Cell Proliferation ; History, 20th Century ; History, 21st Century ; India ; Molecular Biology/*history ; Neoplasms/*physiopathology ; United States ; Virginia ; }, }
@article {pmid27024983, year = {2016}, author = {Genel, M}, title = {Growth and Development of Yale's Pediatric Endocrinology Service Reflections on a Portrait's Unveiling, May 22, 2015.}, journal = {Connecticut medicine}, volume = {80}, number = {2}, pages = {113-116}, pmid = {27024983}, issn = {0010-6178}, mesh = {Biomedical Research/*history ; Connecticut ; Diabetes Mellitus/history ; Education, Medical/*history ; Endocrinology/*history ; Faculty, Medical/history ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; *Leadership ; Pediatrics/*history ; }, }
@article {pmid27016306, year = {2016}, author = {Passarge, E}, title = {James L. German, a pioneer in early human genetic research turned 90.}, journal = {American journal of medical genetics. Part A}, volume = {170}, number = {6}, pages = {1564-1565}, doi = {10.1002/ajmg.a.37635}, pmid = {27016306}, issn = {1552-4833}, mesh = {Bloom Syndrome/diagnosis/genetics/history ; *DNA Replication ; *Famous Persons ; *Genetic Research/history ; *Genetics, Medical/history ; History, 20th Century ; Humans ; RecQ Helicases/genetics ; United States ; }, abstract = {In the early 1960s, J. German established the non-synchronous human DNA replication pattern in metaphases of cultured lymphocytes and fibroblasts. This could be used to distinguish several chromosomes of similar morphology. From 1965 on over the next 30 years, he and his coworkers systematically studied Bloom's syndrome in depth, cumulating in the identification in 1995 of the BLM gene as encoding a DNA helicase. © 2016 Wiley Periodicals, Inc.}, }
@article {pmid27010694, year = {2016}, author = {Jager, MJ}, title = {Introducing Anneke I. den Hollander, the Recipient of the 2015 Cogan Award.}, journal = {Investigative ophthalmology &amp; visual science}, volume = {57}, number = {3}, pages = {1376-1377}, doi = {10.1167/iovs.16-19380}, pmid = {27010694}, issn = {1552-5783}, mesh = {*Awards and Prizes ; Biomedical Research/*history ; Eye Diseases/genetics/*history ; Genetics, Medical/*history ; History, 21st Century ; Humans ; Netherlands ; Ophthalmology/*history ; }, }
@article {pmid27003286, year = {2016}, author = {Sarkar, S}, title = {Haldane and Mayr: a response to Rao and Nanjundiah.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {151-154}, doi = {10.1007/s40656-016-0101-6}, pmid = {27003286}, issn = {0391-9714}, mesh = {*Biological Evolution ; England ; Genetics, Population/*history ; Germany ; History, 20th Century ; India ; *Models, Biological ; United States ; }, abstract = {The discussion with Rao and Nanjundiah about the history of interactions between J. B. S. Haldane and Ernst Mayr is further extended in this note. The nature of the dispute about beanbag genetics is explicated as consisting of two separate issues, one about the role of mathematical analysis in evolutionary biology, and the other about the value of single-locus genic models.}, }
@article {pmid27000095, year = {2016}, author = {Huseynova, IM and Allakhverdiev, SI and Govindjee, }, title = {Jalal A. Aliyev (1928-2016): a great scientist, a great teacher and a great human being.}, journal = {Photosynthesis research}, volume = {128}, number = {3}, pages = {219-222}, pmid = {27000095}, issn = {1573-5079}, mesh = {Azerbaijan ; *Biochemistry/history ; Cicer/genetics/growth &amp; development ; *Genetics/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Photosynthesis ; Research/history ; Teaching/history ; Triticum/genetics/growth &amp; development ; }, abstract = {Jalal A. Aliyev was a distinguished and respected plant biologist of our time, a great teacher, and great human being. He was a pioneer of photosynthesis research in Azerbaijan. Almost up to the end of his life, he was deeply engaged in research. His work on the productivity of wheat, and biochemistry, genetics and molecular biology of gram (chick pea) are some of his important legacies. He left us on February 1, 2016, but many around the world remember him as he was engaged in international dialog on solving global issues, and in supporting international conferences on ''Photosynthesis Research for Sustainability&quot; in 2011 and 2013.}, }
@article {pmid26987309, year = {2016}, author = {Burn, J and Watson, M}, title = {The Human Variome Project.}, journal = {Human mutation}, volume = {37}, number = {6}, pages = {505-507}, doi = {10.1002/humu.22986}, pmid = {26987309}, issn = {1098-1004}, mesh = {Databases, Genetic ; *Genetic Variation ; History, 21st Century ; Human Genome Project/*history ; Humans ; Internet ; Phenylketonurias/genetics ; }, abstract = {The practical realization of genomics has meant a growing realization that variant interpretation is a major barrier to practical use of DNA sequence data. The late Professor Dick Cotton devoted his life to innovation in molecular genetics and was a prime mover in the international response to the need to understand the &quot;variome.&quot; His leadership resulted in the launch first of the Human Genetic Variation Society and then, in 2006, an international agreement to launch the Human Variome Project (HVP), aimed at data integration enabled by standards and infrastructure of the databases of variants being identified in families with a range of inherited disorders. The project attracted a network of affiliates across 81 countries and earned formal recognition by UNESCO, which now hosts its biennial meetings. It has also signed a Memorandum of Understanding with the World Health Organization. Future progress will depend on longer term secure funding and integration with the efforts of the genomics community where the rapid advances in sequencing technology have enabled variant capture on a previously unimaginable scale. Efforts are underway to integrate the efforts of HVP with those of the Global Alliance for Genomics and Health to provide a lasting legacy of Dick Cotton's vision.}, }
@article {pmid26987150, year = {2015}, author = {Esparza, M and Martínez-Abadías, N and Sjøvold, T and González-José, R and Hernández, M}, title = {Comparison between Inbreeding Analyses Methodologies.}, journal = {Collegium antropologicum}, volume = {39}, number = {4}, pages = {843-846}, pmid = {26987150}, issn = {0350-6134}, mesh = {Austria ; *Consanguinity ; Ethnic Groups ; Europe ; *Genealogy and Heraldry ; Genetics, Population/*history/*methods ; History, 17th Century ; History, 18th Century ; History, 19th Century ; Humans ; *Names ; }, abstract = {Surnames are widely used in inbreeding analysis, but the validity of results has often been questioned due to the failure to comply with the prerequisites of the method. Here we analyze inbreeding in Hallstatt (Austria) between the 17th and the 19th centuries both using genealogies and surnames. The high and significant correlation of the results obtained by both methods demonstrates the validity of the use of surnames in this kind of studies. On the other hand, the inbreeding values obtained (0.24 x 10⁻³ in the genealogies analysis and 2.66 x 10⁻³ in the surnames analysis) are lower than those observed in Europe for this period and for this kind of population, demonstrating the falseness of the apparent isolation of Hallstatt's population. The temporal trend of inbreeding in both analyses does not follow the European general pattern, but shows a maximum in 1850 with a later decrease along the second half of the 19th century. This is probably due to the high migration rate that is implied by the construction of transport infrastructures around the 1870's.}, }
@article {pmid26984025, year = {2016}, author = {Sunahara, RK and Insel, PA}, title = {The Molecular Pharmacology of G Protein Signaling Then and Now: A Tribute to Alfred G. Gilman.}, journal = {Molecular pharmacology}, volume = {89}, number = {5}, pages = {585-592}, doi = {10.1124/mol.116.104216}, pmid = {26984025}, issn = {1521-0111}, support = {R01 GM083118/GM/NIGMS NIH HHS/United States ; }, mesh = {Adenylyl Cyclases/chemistry/genetics/metabolism ; Animals ; Authorship ; Biochemistry/education/*history ; Cyclic AMP/*physiology ; G-Protein-Coupled Receptor Kinases/antagonists &amp; inhibitors/chemistry/genetics/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Kinetics ; Leadership ; Ligands ; *Models, Biological ; Molecular Medicine/education/*history ; National Academy of Sciences, U.S. ; Nobel Prize ; Pharmacokinetics ; Pharmacology/education/*history ; *Second Messenger Systems/drug effects ; United States ; }, abstract = {The recent, unfortunate death of Alfred G. (&quot;Al&quot;) Gilman, M.D., Ph.D., represents a sad signpost for an era spanning over 40 years in molecular pharmacology. Gilman's discoveries, influence, and persona were dominant forces in research and training in pharmacology. Here, we review the progression of ideas and knowledge that spawned early work by Gilman and collaborators (among them, one of the authors) and later efforts (including those of the other author) that have recently yielded a comprehensive and precise structural understanding of fundamental topics in pharmacology: the binding of ligands to G protein-coupled receptors (GPCRs) and the interaction of GPCRs with heterotrimeric G proteins and effector molecules. Those data provide new and important insights into the molecular basis that underlies affinity and efficacy, two of the most important features of drug action, which represent the latest chapter in the saga that Al Gilman's work helped launch.}, }
@article {pmid26983170, year = {2016}, author = {Fukushima, M}, title = {Constructing failure in big biology: The socio-technical anatomy of Japan's Protein 3000 Project.}, journal = {Social studies of science}, volume = {46}, number = {1}, pages = {7-33}, doi = {10.1177/0306312715612146}, pmid = {26983170}, issn = {0306-3127}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Japan ; Proteomics/*history/organization &amp; administration ; }, abstract = {This study focuses on the 5-year Protein 3000 Project launched in 2002, the largest biological project in Japan. The project aimed to overcome Japan's alleged failure to contribute fully to the Human Genome Project, by determining 3000 protein structures, 30 percent of the global target. Despite its achievement of this goal, the project was fiercely criticized in various sectors of society and was often branded an awkward failure. This article tries to solve the mystery of why such failure discourse was prevalent. Three explanatory factors are offered: first, because some goals were excluded during project development, there was a dynamic of failed expectations; second, structural genomics, while promoting collaboration with the international community, became an 'anti-boundary object', only the absence of which bound heterogeneous domestic actors; third, there developed an urgent sense of international competition in order to obtain patents on such structural information.}, }
@article {pmid26976476, year = {2016}, author = {Nelson, CW}, title = {Remembering Austin L. Hughes.}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {40}, number = {}, pages = {262-265}, doi = {10.1016/j.meegid.2016.02.030}, pmid = {26976476}, issn = {1567-7257}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; United States ; }, }
@article {pmid26972240, year = {2016}, author = {Ball, P}, title = {Kathy Niakan: at the forefront of gene editing in embryos.}, journal = {Lancet (London, England)}, volume = {387}, number = {10022}, pages = {935}, doi = {10.1016/S0140-6736(16)00573-0}, pmid = {26972240}, issn = {1474-547X}, mesh = {Embryo Research/*history ; Genetic Research/*history ; History, 21st Century ; Humans ; United Kingdom ; United States ; }, }
@article {pmid26959755, year = {2016}, author = {}, title = {Career Profile.}, journal = {Clinical pharmacology and therapeutics}, volume = {99}, number = {4}, pages = {347-348}, doi = {10.1002/cpt.342}, pmid = {26959755}, issn = {1532-6535}, mesh = {Allopurinol/history/therapeutic use ; Biomedical Research/*history ; Gout Suppressants/history/therapeutic use ; History, 20th Century ; History, 21st Century ; Humans ; Hypoglycemic Agents/history/therapeutic use ; Leadership ; Mentors ; Metformin/history/therapeutic use ; Pharmacogenetics/education/*history ; United States ; }, }
@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 {pmid26951691, year = {2016}, author = {Vigotti, MA and Mirabelli, D}, title = {[The 2015 Whistleblower Award to Séralini, resilient scientist].}, journal = {Epidemiologia e prevenzione}, volume = {40}, number = {1}, pages = {4-5}, doi = {10.19191/EP16.1.P004.003}, pmid = {26951691}, issn = {1120-9763}, mesh = {Antifungal Agents/history/*toxicity ; *Awards and Prizes ; Chemical Industry/history ; France ; Glycine/*analogs &amp; derivatives/history/toxicity ; History, 21st Century ; Humans ; Italy ; Molecular Biology/history ; Neoplasms/*chemically induced/genetics/history ; Pesticides/history/*toxicity ; *Research Personnel/history ; *Whistleblowing ; }, }
@article {pmid26942282, year = {2016}, author = {Scriver, CR}, title = {2015 Victor A. McKusick Leadership Award.}, journal = {American journal of human genetics}, volume = {98}, number = {3}, pages = {433-434}, doi = {10.1016/j.ajhg.2015.11.008}, pmid = {26942282}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid26942280, year = {2016}, author = {Kruglyak, L}, title = {2015 Curt Stern Award.}, journal = {American journal of human genetics}, volume = {98}, number = {3}, pages = {428-430}, pmid = {26942280}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; Quantitative Trait Loci ; }, }
@article {pmid26942278, year = {2016}, author = {Davies, KE}, title = {2015 William Allan Award.}, journal = {American journal of human genetics}, volume = {98}, number = {3}, pages = {419-426}, pmid = {26942278}, issn = {1537-6605}, support = {MC_UU_12021/2//Medical Research Council/United Kingdom ; }, mesh = {*Awards and Prizes ; Dystrophin/genetics ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Muscular Dystrophy, Duchenne/genetics ; Societies, Medical ; }, }
@article {pmid26933169, year = {2016}, author = {Sackstein, R}, title = {Fulfilling Koch's postulates in glycoscience: HCELL, GPS and translational glycobiology.}, journal = {Glycobiology}, volume = {26}, number = {6}, pages = {560-570}, pmid = {26933169}, issn = {1460-2423}, support = {P01 HL107146/HL/NHLBI NIH HHS/United States ; R01 CA121335/CA/NCI NIH HHS/United States ; R01 HL060528/HL/NHLBI NIH HHS/United States ; R01 HL073714/HL/NHLBI NIH HHS/United States ; }, mesh = {Animals ; Bone Marrow Cells/cytology/*immunology ; Cell Movement ; E-Selectin/genetics/*immunology ; Gene Expression Regulation ; Glycomics/*history/trends ; Glycosyltransferases/genetics/immunology ; Hematopoietic Stem Cells/cytology/immunology ; History, 20th Century ; History, 21st Century ; Humans ; Hyaluronan Receptors/genetics/*immunology ; Mesenchymal Stem Cells/cytology/immunology ; Protein Engineering/history/methods ; Signal Transduction ; Translational Medical Research/trends ; }, abstract = {Glycoscience-based research that is performed expressly to address medical necessity and improve patient outcomes is called &quot;translational glycobiology&quot;. In the 19th century, Robert Koch proposed a set of postulates to rigorously establish causality in microbial pathogenesis, and these postulates can be reshaped to guide knowledge into how naturally-expressed glycoconjugates direct molecular processes critical to human well-being. Studies in the 1990s indicated that E-selectin, an endothelial lectin that binds sialofucosylated carbohydrate determinants, is constitutively expressed on marrow microvessels, and investigations in my laboratory indicated that human hematopoietic stem cells (HSCs) uniquely express high levels of a specialized glycoform of CD44 called &quot;hematopoietic cell E-/L-selectin ligand&quot; (HCELL) that functions as a highly potent E-selectin ligand. To assess the role of HCELL in directing HSC migration to marrow, a method called &quot;glycosyltransferase-programmed stereosubstitution&quot; (GPS) was developed to custom-modify CD44 glycans to enforce HCELL expression on viable cell surfaces. Human mesenchymal stem cells (MSCs) are devoid of E-selectin ligands, but GPS-based glycoengineering of CD44 on MSCs licenses homing of these cells to marrow in vivo, providing direct evidence that HCELL serves as a &quot;bone marrow homing receptor&quot;. This review will discuss the molecular basis of cell migration in historical context, will describe the discovery of HCELL and its function as the bone marrow homing receptor, and will inform on how glycoengineering of CD44 serves as a model for adapting Koch's postulates to elucidate the key roles that glycoconjugates play in human biology and for realizing the immense impact of translational glycobiology in clinical medicine.}, }
@article {pmid26931295, year = {2016}, author = {Dans, AL and Dans, LF}, title = {Revering the irreverent.}, journal = {Journal of clinical epidemiology}, volume = {73}, number = {}, pages = {64-66}, doi = {10.1016/j.jclinepi.2016.02.013}, pmid = {26931295}, issn = {1878-5921}, mesh = {Developing Countries ; Evidence-Based Medicine/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*education/history ; Narration/*history ; }, }
@article {pmid26931287, year = {2016}, author = {Fletcher, RH and Fletcher, SW}, title = {David Sackett was one of a kind.}, journal = {Journal of clinical epidemiology}, volume = {73}, number = {}, pages = {67-72}, doi = {10.1016/j.jclinepi.2016.02.007}, pmid = {26931287}, issn = {1878-5921}, mesh = {Evidence-Based Medicine/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Theoretical ; Molecular Epidemiology/*education/history ; }, }
@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 {pmid26922058, year = {2016}, author = {Schümperli, D}, title = {Rudolf Weber (1922-2015): a driving force in the transition of developmental biology into a molecular and cellular science.}, journal = {Development genes and evolution}, volume = {226}, number = {2}, pages = {65-67}, pmid = {26922058}, issn = {1432-041X}, mesh = {Animals ; Cell Biology/history ; Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Models, Animal ; Molecular Biology/history ; Xenopus ; }, }
@article {pmid26915068, year = {2016}, author = {Rao, V and Nanjundiah, V}, title = {Ernst Mayr's interactions with J. B. S. Haldane.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {138-150}, doi = {10.1007/s40656-016-0098-x}, pmid = {26915068}, issn = {0391-9714}, mesh = {*Biological Evolution ; England ; Genetics, Population/*history ; Germany ; History, 20th Century ; India ; *Models, Biological ; United States ; }, abstract = {Ernst Mayr and J. B. S. Haldane, major contributors to the 'modern synthesis' in evolutionary theory, set an example of how scientific disagreements need not come in the way of friendship. After getting acquainted, they kept discussing issues related to evolution until just before Haldane's death in 1964. Their dissimilar backgrounds meant that they adopted different approaches. A major disagreement emerged regarding the right way to look at the role of genes in evolution. Mayr felt that the elementary models of population genetics were oversimplifications and therefore inadequate for representing evolutionary processes, though he was not consistent in his attitude. Haldane, on the other hand, maintained that the mathematical treatment of simple models had an important role to play. The Mayr-Haldane interactions illustrate divergent viewpoints concerning the utility of mathematics in biology.}, }
@article {pmid26905340, year = {2016}, author = {Fallin, MD and Duggal, P and Beaty, TH}, title = {Genetic Epidemiology and Public Health: The Evolution From Theory to Technology.}, journal = {American journal of epidemiology}, volume = {183}, number = {5}, pages = {387-393}, doi = {10.1093/aje/kww001}, pmid = {26905340}, issn = {1476-6256}, mesh = {Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Inventions/*history ; Molecular Epidemiology/*history/methods ; Public Health/*history ; }, abstract = {Genetic epidemiology represents a hybrid of epidemiologic designs and statistical models that explicitly consider both genetic and environmental risk factors for disease. It is a relatively new field in public health; the term was first coined only 35 years ago. In this short time, the field has been through a major evolution, changing from a field driven by theory, without the technology for genetic measurement or computational capacity to apply much of the designs and methods developed, to a field driven by rapidly expanding technology in genomic measurement and computational analyses while epidemiologic theory struggles to keep up. In this commentary, we describe 4 different eras of genetic epidemiology, spanning this evolution from theory to technology, what we have learned, what we have added to the broader field of public health, and what remains to be done.}, }
@article {pmid26892990, year = {2017}, author = {Mitchell, MX}, title = {Screening Out Controversy: Human Genetics, Emerging Techniques of Diagnosis, and the Origins of the Social Issues Committee of the American Society of Human Genetics, 1964-1973.}, journal = {Journal of the history of biology}, volume = {50}, number = {2}, pages = {425-456}, pmid = {26892990}, issn = {1573-0387}, mesh = {Abortion, Induced/history ; Advisory Committees/*history ; Genetics, Medical/ethics/*history ; History, 20th Century ; Humans ; Infant, Newborn ; Neonatal Screening/history ; Phenylketonurias/diagnosis/history ; Public Policy/history ; Societies, Medical/*history ; Sociology, Medical/ethics/*history ; United States ; }, abstract = {In the years following World War II, and increasingly during the 1960s and 1970s, professional scientific societies developed internal sub-committees to address the social implications of their scientific expertise (Moore, Disrupting Science: Social Movements, American Scientists, and the Politics of the Military, 1945-1975. Princeton: Princeton University Press, 2008). This article explores the early years of one such committee, the American Society of Human Genetics' &quot;Social Issues Committee,&quot; founded in 1967. Although the committee's name might suggest it was founded to increase the ASHG's public and policy engagement, exploration of the committee's early years reveals a more complicated reality. Affronted by legislators' recent unwillingness to seek the expert advice of human geneticists before adopting widespread neonatal screening programs for phenylketonuria (PKU), and feeling pressed to establish their relevance in an increasingly resource-scarce funding environment, committee members sought to increase the discipline's expert authority. Painfully aware of controversy over abortion rights and haunted by the taint of the discipline's eugenic past, however, the committee proceeded with great caution. Seeking to harness interest in and assert professional control over emerging techniques of genetic diagnosis, the committee strove to protect the society's image by relegating ethical and policy questions about their use to the individual consciences of member scientists. It was not until 1973, after the committee's modest success in organizing support for a retrospective public health study of PKU screening and following the legalization of abortion on demand, that the committee decided to take a more publicly engaged stance.}, }
@article {pmid26892244, year = {2016}, author = {Lindqvist, C and Roy, T and Lydersen, C and Kovacs, KM and Aars, J and Wiig, Ø and Bachmann, L}, title = {Genetic diversity of historical Atlantic walruses (Odobenus rosmarus rosmarus) from Bjørnøya and Håøya (Tusenøyane), Svalbard, Norway.}, journal = {BMC research notes}, volume = {9}, number = {}, pages = {112}, pmid = {26892244}, issn = {1756-0500}, mesh = {Animals ; Bone and Bones/chemistry ; Electron Transport Complex IV/genetics ; Female ; *Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, 20th Century ; History, 21st Century ; *Locus Control Region ; Male ; Mitochondrial Proteins/*genetics ; NADH Dehydrogenase/genetics ; *Phylogeny ; Population Density ; Svalbard ; Walruses/classification/*genetics ; }, abstract = {BACKGROUND: The population size of Atlantic walruses (Odobenus rosmarus rosmarus) is depleted relative to historical abundance levels. In Svalbard, centuries of over-exploitation brought the walrus herds to the verge of extinction, and such bottlenecks may have caused loss of genetic variation. To address this for Svalbard walruses, mitochondrial haplotypes of historical walruses from two major haul-out sites, Bjørnøya and Håøya, within the Archipelago were explored using bone samples from animals killed during the peak period of harvesting.<br><br>RESULTS: Using ancient DNA methodologies, the mitochondrial NADH dehydrogenase 1 (ND1) gene, the cytochrome c oxidase 1 (COI) gene, and the control region (CR) were targeted for 15 specimens from Bjørnøya (of which five were entirely negative) and 9 specimens from Håøya (of which one was entirely negative). While ND1 and COI sequences were obtained for only a few samples, the CR delivered the most comprehensive data set, and the average genetic distance among historic Svalbard samples was 0.0028 (SD = 0.0023).<br><br>CONCLUSIONS: The CR sequences from the historical samples appear to be nested among contemporary Atlantic walruses, and no distinct mitochondrial haplogroups were identified in the historical samples that may have been lost during the periods of extensive hunting. However, given the low sample size and poor phylogenetic resolution it cannot be excluded that such haplogroups existed.}, }
@article {pmid26875293, year = {2015}, author = {Sótonyi, G}, title = {[Participation of Hungarians in the Elaboration of Principles of Genetics and of Biotehchnology].}, journal = {Orvostorteneti kozlemenyek}, volume = {61}, number = {1-4}, pages = {125-136}, pmid = {26875293}, issn = {0010-3551}, mesh = {Animal Husbandry/*history ; Biotechnology/*history ; Europe ; Genetic Research/history ; Genetics/*history ; Genetics, Population/history ; *Heredity ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Hungary ; Mutation ; Political Systems/history ; Politics ; Publishing/history ; }, abstract = {It was in 1983 that Robert Bud, director of The Science Museum in London, made it public that the principles of biotechnology, and the term itself were first put into words by a Hungarian scientist, Károly Ereky (The use of life. A history of biotechnology. Cambridge - New York--Melbourne, Cambridge University Press, 1993). Károly Ereky stated that if raw material is used to produce consumer goods with the help of living organisms, the workflow data can be collected in biotechnology. He phrased the principles of biotechnology in his book published in German in 1919 called Biotechnology, ranking him among the world's greatest (Verlag Paul Parey, Berlin, 1919). In 1918 in Brno, three years before the birth of Mendel, count Imre Festetics formulated his theses in 4 points in his publication &quot;Die genetische Gesetze der Natur&quot; (Oekonomische Neuigkeiten und Verhandlungen. Brünn, 22: 169-170, 1819), using the word 'genetics' for the first time in the world. It was Vitezslav Orel, director of the Mendel Museum in Brno, who brought the attention of the world to this fact in 1989, based on the documents possessed by the Museum. The English scientist J.R. Wood published his new findings in 2001, accord- ing to which Festetics summarized his results in the form of four genetic laws well before Mendel, describing principles of the process of mutation and inheritance. Festetics provided evidence for the improvement of the stock by cross-breeding. He stated Mendel's second law on the importance of selection. He called attention to the priority of internal genetic fac- tors. Hungarians can rightly be proud of Károly Ereky (1878-1952) and count Imre Festetics (1764-1847).}, }
@article {pmid26871450, year = {2016}, author = {Simons, K}, title = {My Early Days with Ari Helenius: Detergents and Viruses.}, journal = {Traffic (Copenhagen, Denmark)}, volume = {17}, number = {4}, pages = {305-307}, doi = {10.1111/tra.12377}, pmid = {26871450}, issn = {1600-0854}, mesh = {Cell Biology/*history ; Finland ; History, 20th Century ; History, 21st Century ; Membrane Lipids/*metabolism ; Molecular Biology/*history ; Semliki forest virus/*metabolism ; United States ; }, }
@article {pmid26869482, year = {2016}, author = {Visscher, PM}, title = {Human Complex Trait Genetics in the 21st Century.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {377-379}, pmid = {26869482}, issn = {1943-2631}, mesh = {Animals ; Delivery of Health Care ; *Genetics, Medical/history/trends ; *Genetics, Population/history/trends ; Genomics/history/trends ; History, 21st Century ; Humans ; Precision Medicine ; *Quantitative Trait, Heritable ; }, }
@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 &quot;acquired immunity,&quot; 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 &quot;mutation to immunity,&quot; 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 {pmid26869480, year = {2016}, author = {Gelling, C}, title = {Hermann Muller on Measuring Mutation Rates.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {369-370}, pmid = {26869480}, issn = {1943-2631}, mesh = {*Genetics/history ; History, 20th Century ; Humans ; *Mutation Rate ; Nobel Prize ; }, }
@article {pmid26869479, year = {2016}, author = {Murray, A}, title = {Salvador Luria and Max Delbrück on Random Mutation and Fluctuation Tests.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {367-368}, pmid = {26869479}, issn = {1943-2631}, mesh = {*Evolution, Molecular ; *Genetics/history ; History, 20th Century ; *Mutation ; Nobel Prize ; }, }
@article {pmid26869464, year = {2017}, author = {Singleton, R and Singleton, DR}, title = {Remembering Our Forebears: Albert Jan Kluyver and the Unity of Life.}, journal = {Journal of the history of biology}, volume = {50}, number = {1}, pages = {169-218}, pmid = {26869464}, issn = {1573-0387}, mesh = {Biochemistry/history ; History, 20th Century ; Microbiology/education/*history ; Molecular Biology/history ; Netherlands ; }, abstract = {The Dutch microbiologist/biochemist Albert Jan Kluyver (1888-1956) was an early proponent of the idea of biochemical unity, and how that concept might be demonstrated through the careful study of microbial life. The fundamental relatedness of living systems is an obvious correlate of the theory of evolution, and modern attempts to construct phylogenetic schemes support this relatedness through comparison of genomes. The approach of Kluyver and his scientific descendants predated the tools of modern molecular biology by decades. Kluyver himself is poorly recognized today, yet his influence at the time was profound. Through lens of today however, it has been argued that the focus by Kluyver and others to create taxonomic and phylogenetic schemes using morphology and biochemistry distorted and hindered progress of the discipline of microbiology, because of a perception that the older approaches focused too much on a reductionist worldview. This essay argues that in contrast the careful characterization of fundamental microbial metabolism and physiology by Kluyver made many of the advances of the latter part of the twentieth century possible, by offering a framework which in many respects anticipated our current view of phylogeny, and by directly and indirectly training a generation of scientists who became leaders in the explosive growth of biotechnology.}, }
@article {pmid26869463, year = {2016}, author = {Kleinman, K}, title = {&quot;Bringing Taxonomy to the Service of Genetics&quot;: Edgar Anderson and Introgressive Hybridization.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {603-624}, pmid = {26869463}, issn = {1573-0387}, mesh = {Botany/*history ; Classification ; Genetic Linkage ; Genetics/*history ; Genetics, Population ; History, 20th Century ; *Hybridization, Genetic ; Plants/classification/genetics ; Selection, Genetic ; United States ; }, abstract = {In introgressive hybridization (the repeated backcrossing of hybrids with parental populations), Edgar Anderson found a source for variation upon which natural selection could work. In his 1953 review article &quot;Introgressive Hybridization,&quot; he asserted that he was &quot;bringing taxonomy to the service of genetics&quot; whereas distinguished colleagues such as Theodosius Dobzhansky and Ernst Mayr did the precise opposite. His work as a geneticist particularly focused on linkage and recombination and was enriched by collaborations with Missouri Botanical Garden colleagues interested in taxonomy as well as with cytologists C.D. Darlington and Karl Sax. As the culmination of a biosystemtatic research program, Anderson's views challenged the mainstream of the Evolutionary Synthesis.}, }
@article {pmid26857664, year = {2016}, author = {Fimmel, E and Strüngmann, L}, title = {Yury Borisovich Rumer and his 'biological papers' on the genetic code.}, journal = {Philosophical transactions. Series A, Mathematical, physical, and engineering sciences}, volume = {374}, number = {2063}, pages = {}, doi = {10.1098/rsta.2015.0228}, pmid = {26857664}, issn = {1364-503X}, mesh = {Genetic Code/*genetics ; Genetics/*history ; History, 20th Century ; Models, Genetic ; *Publications ; }, abstract = {Yury Borisovich Rumer was one of the most important theoretical physicists of the former Soviet Union in the early 1930s. However, he also wrote a few 'biological papers' on the standard genetic code after he read Crick's and Nirenberg's pioneering papers on the topic. Rumer's articles on the 'Systematization of Codons in the Genetic Code' (Rumer 1966 Doklady Akademii nauk SSSR 167, 1393-1394); Rumer 1968 Doklady Akademii nauk SSSR 183, 225-226; Rumer 1969 Doklady Akademii nauk SSSR 187, 937-938, where he suggested the idea of partitioning codons depending on their redundancy-the first mention of symmetry in the genetic code-were published in Russian only. Due to their importance and their frequent citation, we here present translations of these articles into English in order to make them accessible to a broader community.}, }
@article {pmid26850620, year = {2016}, author = {Mounolou, JC}, title = {[In the beginning was the Word].}, journal = {Medecine sciences : M/S}, volume = {32}, number = {1}, pages = {125-126}, doi = {10.1051/medsci/20163201022}, pmid = {26850620}, issn = {1958-5381}, mesh = {*DNA/analysis/history ; Genetic Code/*physiology ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Publications ; *Religion and Science ; Terminology as Topic ; }, }
@article {pmid26850619, year = {2016}, author = {Miné-Hattab, J}, title = {[Lasker award 2015: spotlight on DNA repair].}, journal = {Medecine sciences : M/S}, volume = {32}, number = {1}, pages = {123-124}, doi = {10.1051/medsci/20163201021}, pmid = {26850619}, issn = {1958-5381}, mesh = {*Awards and Prizes ; *DNA Repair ; Genetics/*history ; History, 21st Century ; Humans ; Massachusetts ; New Jersey ; Radiobiology/*history ; SOS Response, Genetics/physiology/radiation effects ; }, }
@article {pmid26850617, year = {2016}, author = {Jordan, B}, title = {[A Nobel Prize for DNA repair].}, journal = {Medecine sciences : M/S}, volume = {32}, number = {1}, pages = {117-119}, doi = {10.1051/medsci/20163201019}, pmid = {26850617}, issn = {1958-5381}, mesh = {*DNA Repair ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; New Mexico ; *Nobel Prize ; Sweden ; Turkey ; }, abstract = {This year's Nobel Prize for chemistry recognizes the seminal contributions of three researchers who discovered the existence and the basic mechanisms of DNA repair: base excision repair, mismatch repair, and nucleotide excision repair. They have since been joined by many scientists elucidating diverse aspects of these complex mechanisms that now constitute a thriving research field with many applications, notably for understanding oncogenesis and devising more effective therapies.}, }
@article {pmid26850308, year = {2016}, author = {Buc, H}, title = {François Jacob, André Lwoff and Jacques Monod, fifty years after the Nobel Prize.}, journal = {Research in microbiology}, volume = {167}, number = {3}, pages = {155-158}, doi = {10.1016/j.resmic.2016.01.005}, pmid = {26850308}, issn = {1769-7123}, mesh = {Anniversaries and Special Events ; Biomedical Research/history/trends ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/*trends ; Nobel Prize ; }, }
@article {pmid26850130, year = {2016}, author = {Dutta, UR}, title = {The history of human cytogenetics in India-A review.}, journal = {Gene}, volume = {589}, number = {2}, pages = {112-117}, doi = {10.1016/j.gene.2016.01.052}, pmid = {26850130}, issn = {1879-0038}, mesh = {Chromosome Aberrations/*classification ; Chromosomes, Human/chemistry/*ultrastructure ; Comparative Genomic Hybridization/history/methods ; Cytogenetics/*history/methods ; Diagnostic Services/*history/organization &amp; administration ; High-Throughput Nucleotide Sequencing/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; In Situ Hybridization, Fluorescence/history/methods ; India ; Karyotyping/history/methods ; }, abstract = {It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with respect to other fields is primarily due to the underdevelopment of lenses and imaging techniques. With the advent of the new technologies, especially automation and evolution of advanced compound microscopes, cytogenetics drastically leaped further to greater heights. This review describes the historic events that had led to the development of human cytogenetics with a special attention about the history of cytogenetics in India, its present status, and future. Apparently, this review provides a brief account into the insights of the early laboratory establishments, funding, and the German collaborations. The details of the Indian cytogeneticists establishing their labs, promoting the field, and offering the chromosomal diagnostic services are described. The detailed study of chromosomes helps in increasing the knowledge of the chromosome structure and function. The delineation of the chromosomal rearrangements using cytogenetics and molecular cytogenetic techniques pays way in identifying the molecular mechanisms involved in the chromosomal rearrangement. Although molecular cytogenetics is greatly developing, the conventional cytogenetics still remains the gold standard in the diagnosis of various numerical chromosomal aberrations and a few structural aberrations. The history of cytogenetics and its importance even in the era of molecular cytogenetics are discussed.}, }
@article {pmid26849117, year = {2016}, author = {Ayub, Q and Mezzavilla, M and Pagani, L and Haber, M and Mohyuddin, A and Khaliq, S and Mehdi, SQ and Tyler-Smith, C}, title = {Response to Hellenthal et al.}, journal = {American journal of human genetics}, volume = {98}, number = {2}, pages = {398}, pmid = {26849117}, issn = {1537-6605}, mesh = {Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; *Genetic Drift ; Genetics, Population/*history ; Humans ; Male ; }, }
@article {pmid26849116, year = {2016}, author = {Hellenthal, G and Falush, D and Myers, S and Reich, D and Busby, GB and Lipson, M and Capelli, C and Patterson, N}, title = {The Kalash Genetic Isolate? The Evidence for Recent Admixture.}, journal = {American journal of human genetics}, volume = {98}, number = {2}, pages = {396-397}, pmid = {26849116}, issn = {1537-6605}, support = {098386//Wellcome Trust/United Kingdom ; MR/M501608/1//Medical Research Council/United Kingdom ; }, mesh = {Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; *Genetic Drift ; Genetics, Population/*history ; Humans ; Male ; }, }
@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 {pmid26838313, year = {2016}, author = {Patterson, K}, title = {Gerald W. Dorn II: Thinker, Teacher, Tinkerer.}, journal = {Circulation research}, volume = {118}, number = {2}, pages = {199-202}, doi = {10.1161/CIRCRESAHA.115.308213}, pmid = {26838313}, issn = {1524-4571}, mesh = {Animals ; Biomedical Research/*history ; Cardiology/*history ; Cardiovascular Diseases/genetics/*history ; Career Choice ; History, 20th Century ; History, 21st Century ; Humans ; Mentors/history ; Molecular Biology/*history ; }, }
@article {pmid26837547, year = {2016}, author = {Majumder, PP}, title = {A Humanitarian and a Great Indian.}, journal = {Genome biology and evolution}, volume = {8}, number = {2}, pages = {467-469}, pmid = {26837547}, issn = {1759-6653}, mesh = {*Altruism ; Genetics/*history ; History, 19th Century ; History, 20th Century ; India ; United Kingdom ; }, }
@article {pmid26825396, year = {2016}, author = {Deichmann, U}, title = {Interview with Eric Davidson.}, journal = {Developmental biology}, volume = {412}, number = {2 Suppl}, pages = {S20-9}, doi = {10.1016/j.ydbio.2016.01.021}, pmid = {26825396}, issn = {1095-564X}, mesh = {Animals ; Cell Biology/*history ; Developmental Biology/*history ; Gene Regulatory Networks ; History, 20th Century ; Humans ; Molecular Biology/*history ; Sea Urchins/embryology/genetics ; }, }
@article {pmid26825394, year = {2016}, author = {Cameron, RA}, title = {My time with Eric Davidson.}, journal = {Developmental biology}, volume = {412}, number = {2 Suppl}, pages = {S30}, doi = {10.1016/j.ydbio.2016.01.022}, pmid = {26825394}, issn = {1095-564X}, mesh = {Animals ; Developmental Biology/*history ; Gene Regulatory Networks ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid26800037, year = {2016}, author = {Schwartz, MK}, title = {Recipient of the 2015 Molecular Ecology Prize: Fred Allendorf.}, journal = {Molecular ecology}, volume = {25}, number = {2}, pages = {450-453}, doi = {10.1111/mec.13503}, pmid = {26800037}, issn = {1365-294X}, mesh = {*Awards and Prizes ; Ecology/*history ; Genetics, Population/*history ; History, 21st Century ; }, }
@article {pmid26787897, year = {2016}, author = {Berk, AJ}, title = {Discovery of RNA splicing and genes in pieces.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {4}, pages = {801-805}, pmid = {26787897}, issn = {1091-6490}, mesh = {Adenoviruses, Human/*genetics ; Animals ; Capsid Proteins/genetics ; DNA, Viral/genetics ; Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Mammals/genetics ; Massachusetts ; Models, Genetic ; Molecular Biology/*history ; Nucleic Acid Hybridization ; RNA Isoforms/genetics/metabolism ; RNA Precursors/genetics/metabolism ; *RNA Splicing ; RNA, Heterogeneous Nuclear/genetics/*history/metabolism ; RNA, Messenger/biosynthesis/genetics/ultrastructure ; RNA, Viral/genetics ; }, }
@article {pmid26783570, year = {2015}, author = {Erwin, DH}, title = {Eric Davidson (1937–2015).}, journal = {Current biology : CB}, volume = {25}, number = {20}, pages = {R968-9}, doi = {10.1016/j.cub.2015.09.034}, pmid = {26783570}, issn = {1879-0445}, mesh = {Animals ; California ; *Gene Expression Regulation, Developmental ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Sea Urchins/*genetics/*growth &amp; development ; }, }
@article {pmid26775433, year = {2015}, author = {de Chadarevian, S}, title = {Human population studies and the World Health Organization.}, journal = {Dynamis (Granada, Spain)}, volume = {35}, number = {2}, pages = {359-388}, doi = {10.4321/s0211-95362015000200005}, pmid = {26775433}, issn = {0211-9536}, support = {/099392/Z/12/Z//Wellcome Trust/United Kingdom ; }, mesh = {Genetics, Population/*history ; *Heredity ; History, 20th Century ; Humans ; Infant, Newborn ; International Cooperation/history ; Politics ; Population Groups/*genetics ; Radiation Protection/*history ; Research ; World Health Organization/*history ; }, abstract = {This essay draws attention to the role of the WHO in shaping research agendas in the biomedical sciences in the postwar era. It considers in particular the genetic studies of human populations that were pursued under the aegis of the WHO from the late 1950s to 1970s. The study provides insights into how human and medical genetics entered the agenda of the WHO. At the same time, the population studies become a focus for tracking changing notions of international relations, cooperation, and development and their impact on research in biology and medicine in the post-World War I era. After a brief discussion of the early history of the WHO and its position in Cold War politics, the essay considers the WHO program in radiation protection and heredity and how the genetic study of &quot;vanishing&quot; human populations and a world-wide genetic study of newborns fitted this broader agenda. It then considers in more detail the kind of support offered by the WHO for these projects. The essay highlights the role of single individuals in taking advantage of WHO support for pushing their research agendas while establishing a trend towards cooperative international projects in biology.}, }
@article {pmid26775432, year = {2015}, author = {Barahona, A}, title = {Transnational science and collaborative networks. The case of Genetics and Radiobiology in Mexico, 1950-1970.}, journal = {Dynamis (Granada, Spain)}, volume = {35}, number = {2}, pages = {333-358}, doi = {10.4321/s0211-95362015000200004}, pmid = {26775432}, issn = {0211-9536}, mesh = {Animals ; Cytogenetics/*history ; Drosophila/*genetics ; Genetics, Population/*history ; History, 20th Century ; Humans ; Indians, North American/*genetics ; Mexico ; Radiobiology/*history ; }, abstract = {The transnational approach of the science and technology studies (S&amp;TS) abandons the nation as a unit of analysis in order to understand the development of science history. It also abandons Euro-US-centred narratives in order to explain the role of international collaborative networks and the circulation of knowledge, people, artefacts and scientific practices. It is precisely under this perspective that the development of genetics and radiobiology in Mexico shall be analyzed, together with the pioneering work of the Mexican physician-turned-geneticist Alfonso León de Garay who spent two years in the Galton Laboratory in London under the supervision of Lionel Penrose. Upon his return de Garay funded the Genetics and Radiobiology Program of the National Commission of Nuclear Energy based on local needs and the aim of working beyond geographical limitations to thus facilitate the circulation of knowledge, practices and people. The three main lines of research conducted in the years after its foundation that were in line with international projects while responding to the national context were, first, cytogenetic studies of certain abnormalities, and the cytogenetics and anthropological studies of the Olympic Games held in Mexico in 1968; second, the study of the effects of radiation on hereditary material; and third, the study of population genetics in Drosophila and in Mexican indigenous groups. The program played a key role in reshaping the scientific careers of Mexican geneticists, and in transferring locally sourced research into broader networks. This case shows the importance of international collaborative networks and circulation in the constitution of national scientific elites, and also shows the national and transnational concerns that shaped local practices.}, }
@article {pmid26766743, year = {2016}, author = {Hinman, V}, title = {Eric Davidson (1937-2015) and the past, present and future of EvoDevo.}, journal = {Evolution &amp; development}, volume = {18}, number = {2}, pages = {67-68}, doi = {10.1111/ede.12180}, pmid = {26766743}, issn = {1525-142X}, mesh = {Biological Evolution ; California ; Developmental Biology/*history ; *Gene Expression Regulation ; Gene Regulatory Networks ; Genetics/*history ; History, 20th Century ; History, 21st Century ; RNA, Untranslated/genetics ; }, }
@article {pmid26750602, year = {2015}, author = {Morange, M}, title = {Pseudoalleles and Gene Complexes: The Search for the Elusive Link Between Genome Structure and Gene Function.}, journal = {Perspectives in biology and medicine}, volume = {58}, number = {2}, pages = {196-204}, doi = {10.1353/pbm.2015.0027}, pmid = {26750602}, issn = {1529-8795}, mesh = {*Alleles ; Animals ; Evolution, Molecular ; *Gene Expression Regulation ; *Genetic Loci ; *Genome ; Genomics/history/*methods ; History, 20th Century ; Humans ; Mice ; Models, Genetic ; Nucleic Acid Conformation ; *Pseudogenes ; Structure-Activity Relationship ; t-Complex Genome Region ; }, abstract = {After their discovery in the first decades of the 20th century, pseudo-alleles generated much interest among geneticists, because they apparently violated the conception of the genome as a collection of independent genes, a view elaborated by Thomas Morgan's group. This article focuses on two issues: the way the phenomenon of pseudoallelism suggests that the genome is more than a simple addition of independent genes, and the connection established between the formation of pseudoalleles during evolution and their functional roles. The article discusses the first explanations for the origin of pseudoalleles elaborated in the mid-1930s, the metabolic/developmental sequential model proposed by Ed Lewis in the 1950s, the disappointments encountered with the T-complex in the 1970s, and the fading of the previous models after the molecular characterization of the pseudoallelic gene complexes in the 1980s. Genomes are more than collections of genes, but their structures are the result of a complex evolutionary history that leaves no place for simplistic models.}, }
@article {pmid26750599, year = {2015}, author = {Deichmann, U}, title = {Chromatin: Its history, current research, and the seminal researchers and their philosophy.}, journal = {Perspectives in biology and medicine}, volume = {58}, number = {2}, pages = {143-164}, doi = {10.1353/pbm.2015.0024}, pmid = {26750599}, issn = {1529-8795}, mesh = {Animals ; *Biomedical Research/history/trends ; Chromatin/chemistry/*metabolism ; *Chromatin Assembly and Disassembly ; Gene Expression Regulation ; *Genetics/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Nucleic Acid Conformation ; Protein Conformation ; }, abstract = {The concept of chromatin as a complex of nucleic acid and proteins in the cell nucleus was developed by cytologists and biochemists in the late 19th century. It was the starting point for biochemical research on DNA and nuclear proteins. Although interest in chromatin declined rapidly at the beginning of the 20th century, a few decades later a new focus on chromatin emerged, which was not only related to its structure, but also to its function in gene regulatory processes in the development of higher organisms. Since the late 20th century, research on chromatin modifications has also been conducted under the label of epigenetics. This article highlights the major phases of chromatin research until the present time and introduces major investigators and their scientific and philosophical outlooks.}, }
@article {pmid26746705, year = {2016}, author = {Fu, L}, title = {Shisan C. Chen and his research on goldfish genetics.}, journal = {Protein &amp; cell}, volume = {7}, number = {2}, pages = {79-80}, doi = {10.1007/s13238-015-0236-3}, pmid = {26746705}, issn = {1674-8018}, mesh = {Animals ; China ; Genetics/*history ; Goldfish/*genetics ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26733664, year = {2016}, author = {Ganetzky, B and Hawley, RS}, title = {The Centenary of GENETICS: Bridges to the Future.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {15-23}, pmid = {26733664}, issn = {1943-2631}, mesh = {*Chromosomes ; Genetics/*history ; History, 20th Century ; Periodicals as Topic/*history ; }, }
@article {pmid26733663, year = {2016}, author = {Rosenberg, NA}, title = {Admixture Models and the Breeding Systems of H. S. Jennings: A GENETICS Connection.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {9-13}, pmid = {26733663}, issn = {1943-2631}, mesh = {*Chromosomes ; Genetics/*history ; Periodicals as Topic/*history ; }, }
@article {pmid26733662, year = {2016}, author = {Coyne, JA}, title = {Theodosius Dobzhansky on Hybrid Sterility and Speciation.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {5-7}, pmid = {26733662}, issn = {1943-2631}, mesh = {Animals ; Books/*history ; Female ; *Genetic Speciation ; Genetics/*history ; History, 20th Century ; Hybridization, Genetic ; Infertility ; Male ; }, }
@article {pmid26733661, year = {2016}, author = {Barton, NH}, title = {Sewall Wright on Evolution in Mendelian Populations and the &quot;Shifting Balance&quot;.}, 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 {pmid26733660, year = {2016}, author = {Johnston, M}, title = {A New Century of GENETICS.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {1-2}, pmid = {26733660}, issn = {1943-2631}, mesh = {*Genetics/history ; History, 20th Century ; Periodicals as Topic/*history ; }, }
@article {pmid26732271, year = {2017}, author = {Loison, L and Gayon, J and Burian, RM}, title = {The Contributions - and Collapse - of Lamarckian Heredity in Pasteurian Molecular Biology: 1. Lysogeny, 1900-1960.}, journal = {Journal of the history of biology}, volume = {50}, number = {1}, pages = {5-52}, pmid = {26732271}, issn = {1573-0387}, mesh = {Bacteriophages/physiology ; France ; *Heredity ; History, 20th Century ; *Lysogeny ; Molecular Biology/*history ; }, abstract = {This article shows how Lamarckism was essential in the birth of the French school of molecular biology. We argue that the concept of inheritance of acquired characters positively shaped debates surrounding bacteriophagy and lysogeny in the Pasteurian tradition during the interwar period. During this period the typical Lamarckian account of heredity treated it as the continuation of protoplasmic physiology in daughter cells. Félix d'Hérelle applied this conception to argue that there was only one species of bacteriophage and Jules Bordet applied it to develop an account of bacteriophagy as a transmissible form of autolysis and to analyze the new phenomenon of lysogeny. In a long-standing controversy with Bordet, Eugène Wollman deployed a more morphological understanding of the inheritance of acquired characters, yielding a particulate, but still Lamarckian, account of lysogeny. We then turn to André Lwoff who, with several colleagues, completed Wollman's research program from 1949 to 1953. We examine how he gradually set aside the Lamarckian background, finally removing inheritance of acquired characters from the resulting account of bacteriophagy and lysogeny. In the conclusion, we emphasize the complex dual role of Lamarckism as it moved from an assumed explanatory framework to a challenge that the nascent molecular biology had to overcome.}, }
@article {pmid26729250, year = {2016}, author = {Dunn, MJ and Kraus, HJ}, title = {PROTEOMICS: The first 15 years.}, journal = {Proteomics. Clinical applications}, volume = {10}, number = {1}, pages = {1-3}, doi = {10.1002/prca.201670013}, pmid = {26729250}, issn = {1862-8354}, mesh = {Animals ; History, 21st Century ; Humans ; Proteomics/*history ; }, }
@article {pmid26728305, year = {2016}, author = {}, title = {PROTEOMICS: The first 15 years.}, journal = {Proteomics}, volume = {16}, number = {1}, pages = {1-3}, doi = {10.1002/pmic.201670013}, pmid = {26728305}, issn = {1615-9861}, mesh = {Electrophoresis, Gel, Two-Dimensional/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history ; Proteome/analysis ; *Proteomics/history/methods ; }, }
@article {pmid29489121, year = {2016}, author = {Kaasch, M and Kaasch, J}, title = {[In process.].}, journal = {Acta historica Leopoldina}, volume = {}, number = {65}, pages = {251-282}, pmid = {29489121}, issn = {0001-5857}, mesh = {Academies and Institutes/history ; Agriculture/history ; Botany/*history ; Dissent and Disputes/*history ; Faculty/history ; Genetics/*history ; Germany, East ; History, 20th Century ; Interprofessional Relations ; Plant Breeding/*history ; Research/history ; Research Support as Topic/history ; Universities/history ; }, abstract = {Two of the most important life scientists in the GDR were the botanist, plant biochemist and pharmacist Kurt MOTHES (1900-1983) and the geneticist and plant breeder Hans STUBBE (1902-1989). Both started their successful careers during the period of NS dictatorship. MOTHES was a full professor of botany at the University of K6nigsberg from 1935 to 1945. After working at the Kaiser Wilhelm Institute for Plant Breeding Research in Mincheberg and at the Kaiser Wilhelm Institute for Biology in Berlin-Dahlem, STUBBE oversaw the establishment of a Kaiser Wilhelm Institute for Crop Plant Research near Vienna in 1943, which was moved to Stecklenberg in the Harz Mountains in 1945 and later to Gatersleben. While MOTHEs was being held as a Soviet prisoner of war from 1945 to 1949, STUBBE was able to set up his institute in Gatersleben in the eastern part of Germany and held influential positions at Martin Luther University in Halle (Saale) as a professor for genetics and as the founding dean of the Faculty of Agriculture. After his release from war captivity, MOTHES, with STUBBE'S support, was able to continue his research at STUBBE'S institute in Gatersleben as the head of the Department for Chemical Physiology. There MOTHES was offered espe- cially favourable conditions by East German standards which led him to turn down other job offers, like the position of professor of botany at the University of Leipzig which was vacant at the time. In addition, MOTHES was also of- fered teaching opportunities in the Faculty of Natural Sciences at the University of Halle, again thanks to STUBBE'S support. In 1951 STUBBE became a founding member and president of the German Academy of Agricultural Sciences at Berlin, and in 1954 MOTHEs became president of the German Academy of Sciences Leopoldina. Both were also influential members of the German Academy of Sciences at Berlin (later the GDR's Academy of Sciences). This article investigates how their collaboration developed into an ever-increasing competitiveness which came to a head as an embroiled dispute resulting from differences in scientific and scientific policy views. In the process a battle was fought over research resources so that, what was at first an apparently personal quarrel, affected the course of research promotion at an institutional level in the area of life sciences in the GDR. Despite several attempts at mediation, old age finally forced the adversaries to put aside their differences.}, }
@article {pmid26713337, year = {2015}, author = {Kalantry, S and Mueller, JL}, title = {Mary Lyon: A Tribute.}, journal = {American journal of human genetics}, volume = {97}, number = {4}, pages = {507-510}, doi = {10.1016/j.ajhg.2015.09.002}, pmid = {26713337}, issn = {1537-6605}, support = {DP2 OD008646/OD/NIH HHS/United States ; R00 HD064753/HD/NICHD NIH HHS/United States ; }, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United Kingdom ; }, }
@article {pmid26701753, year = {2015}, author = {Alaggio, R and Coffin, CM}, title = {The Evolution of Pediatric Soft Tissue Sarcoma Classification in the Last 50 Years.}, journal = {Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society}, volume = {18}, number = {6}, pages = {481-494}, doi = {10.2350/15-07-1666-MISC.1}, pmid = {26701753}, issn = {1093-5266}, mesh = {Adolescent ; Biomarkers, Tumor/genetics ; Child ; Fibrosarcoma/classification/pathology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Diagnostic Techniques ; Muscle Neoplasms/*classification/genetics/history/*pathology ; Muscle, Skeletal/pathology ; Nerve Sheath Neoplasms/classification/pathology ; *Pathology, Molecular/history ; *Pediatrics/history ; Sarcoma/*classification/genetics/history/*pathology ; *Terminology as Topic ; }, abstract = {This review discusses the history of the classification of soft tissue sarcomas in children and adolescents, the current transition toward integration of morphology and molecular genetics as new entities emerge, and future perspectives.}, }
@article {pmid26701384, year = {2015}, author = {Rogers, BB}, title = {The Evolution of the Polymerase Chain Reaction to Diagnose Childhood Infections.}, journal = {Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society}, volume = {18}, number = {6}, pages = {495-503}, doi = {10.2350/15-05-1643-OA.1}, pmid = {26701384}, issn = {1093-5266}, mesh = {Bacterial Infections/*diagnosis/genetics/history/microbiology ; DNA, Bacterial/*genetics ; DNA, Viral/*genetics ; Diffusion of Innovation ; Equipment Design ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Diagnostic Techniques/history/instrumentation ; Pathology, Molecular/history/*methods ; Pediatrics/history/*methods ; Polymerase Chain Reaction/history/instrumentation/*methods ; Predictive Value of Tests ; Reproducibility of Results ; Virus Diseases/*diagnosis/genetics/history/virology ; }, abstract = {Children's healthcare has evolved over the years, and the pediatric laboratory has contributed to the clinical understanding of childhood disease through the application of new technology and knowledge. This article highlights the evolution of PCR technology to aid in the diagnosis of pediatric infections, from the discovery of the PCR, through the subsequent years when the clinical need exceeded the capability of the technology, until the current day, when application of the PCR is becoming commonplace.}, }
@article {pmid26700944, year = {2016}, author = {Roberts, RM}, title = {In memoriam: Neal L. First 1930-2014.}, journal = {Biology of reproduction}, volume = {94}, number = {2}, pages = {47}, doi = {10.1095/biolreprod.115.138198}, pmid = {26700944}, issn = {1529-7268}, mesh = {Agriculture/*history ; Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Wisconsin ; }, }
@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 {pmid26677577, year = {2015}, author = {Kierdaszuk, B}, title = {[Role of tautomerism in the molecular mechanisms of mutagenesis].}, journal = {Postepy biochemii}, volume = {61}, number = {3}, pages = {298-304}, pmid = {26677577}, issn = {0032-5422}, mesh = {Adenine/*analogs &amp; derivatives/chemistry/history/metabolism ; *Base Pairing ; Biochemistry/*history ; Cytosine/*analogs &amp; derivatives/chemistry/history/metabolism ; DNA/chemistry/history ; DNA Damage ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Hydrogen Bonding ; Isomerism ; *Mutagenesis ; Point Mutation ; Poland ; }, abstract = {Environment of human being usually contains a high number of environmental mutagens, which may modify chemically nucleic acid bases into promutagenic analogues. Hydroxylamine (NH2OH) is a strong mutagen which modifies cytosine and adenine to N4-hydroxycytosine and N6-hydroxyadenine, respectively. Once these analogues are present in DNA or RNA, they may cause transition point mutations by the exchange between two pairs C:G and A:T into T:A and G:C, respectively. The reason for these mutations is the change of preferences between intermolecular hydrogen bonds resulting from the shift of the tautomeric equilibrium from the preferred amino form into the imino one. In the case of the aminoimino tautomeric equilibrium of N6-hydroxyadenosine, it was also shown that preferential hydrogen bonding between its imino form and cytidine, or uridine and the amino form of this base leads to the shift of the tautomeric equilibrium in favour of these tautomers in solution. N4-hydroxy-dCMP analogues exhibited very interesting inhibitory properties versus the biosynthesis of dTMP catalyzed by thymidylate synthase. These properties help to further the knowledge on the molecular mechanism of the catalytic reaction of this enzyme as well as on the role of syn-anti photoisomerization of the N4-hydroxy group in this reaction. Examinations gathered in the article were conducted from 1979 to 1985 under supervision, and afterwards from 1986 to 2004 in collaboration with professor David Shugar.}, }
@article {pmid26677572, year = {2015}, author = {Piechowska, M}, title = {[Genetic transformation and fate of heterological DNA in bacterial cells].}, journal = {Postepy biochemii}, volume = {61}, number = {3}, pages = {256-259}, pmid = {26677572}, issn = {0032-5422}, mesh = {Bacillus/genetics ; Bacteriophages/genetics ; DNA, Bacterial/*history ; Genetics/*history ; History, 20th Century ; Poland ; Streptococcus/genetics ; *Transformation, Genetic ; }, abstract = {Secretion of a metabolite enabling Streptococci to undergo genetic transformation was discovered. The metabolite combined with an optimization process were applied to increase the transformation yield about 20-fold. It was observed that large amounts of DNA exert a bactericidal effect, indicating the ability of at least 70% of cells to uptake the polymer. While studying the molecular mechanism of transformation of Bacillus subtilis it was shown that the uptaken DNA forms complexes with bacterial proteins, which hinders determination of its structure. A method was found to dissociate these complexes which enabled to determine the single-stranded structure of the uptaken DNA. Donor DNA fragments incorporated into the host DNA were of about 10 Da. Non-transforming DNA can be uptaken similarly but does not undergo incorporation into the host DNA. The selectivity of Bacillus subtilis receptors was determined towards DNA of phages containing modified bases: uracil, putrescinyl-thymine and its acetylated derivative, 5'-hydroxymethylcytosine and its glycosylated derivative and also towards double-stranded RNA of f2 phage. All these modifications were tolerated by the cellular receptors, with the exception of glycosylation and the 2'-OH group in RNA.}, }
@article {pmid26677566, year = {2015}, author = {Wierzchowski, KL}, title = {[100th Anniversary of Professor David Shugar].}, journal = {Postepy biochemii}, volume = {61}, number = {3}, pages = {234-235}, pmid = {26677566}, issn = {0032-5422}, mesh = {Anniversaries and Special Events ; Biophysics/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Poland ; }, }
@article {pmid26672357, year = {2015}, author = {Jin, C}, title = {[Glycotechnology in China].}, journal = {Sheng wu gong cheng xue bao = Chinese journal of biotechnology}, volume = {31}, number = {6}, pages = {797-804}, pmid = {26672357}, issn = {1000-3061}, mesh = {Biotechnology ; China ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Glycotechnology is a new branch of biotechnology, emerged early 1990's. In this article, the international background of glycotechnology is briefly introduced and history of glycotechnology in China is reviewed.}, }
@article {pmid26671265, year = {2016}, author = {Dietrich, MR}, title = {Experimenting with sex: four approaches to the genetics of sex reversal before 1950.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {23-41}, doi = {10.1007/s40656-015-0092-8}, pmid = {26671265}, issn = {0391-9714}, mesh = {Animals ; Female ; Genetics/*history ; History, 20th Century ; Male ; *Models, Biological ; *Sex Determination Processes ; }, abstract = {In the early twentieth century, Tatsuo Aida in Japan, Øjvind Winge in Denmark, Richard Goldschmidt in Germany, and Calvin Bridges in the United States all developed different experimental systems to study the genetics of sex reversal. These locally specific experimental systems grounded these experimenters' understanding of sex reversal as well as their interpretation of claims regarding experimental results and theories. The comparison of four researchers and their experimental systems reveals how those different systems mediated their understanding of genetic phenomena, and influenced their interpretations of sex reversal.}, }
@article {pmid26667849, year = {2016}, author = {Jeggo, PA and Pearl, LH and Carr, AM}, title = {DNA repair, genome stability and cancer: a historical perspective.}, journal = {Nature reviews. Cancer}, volume = {16}, number = {1}, pages = {35-42}, pmid = {26667849}, issn = {1474-1768}, support = {G1100074//Medical Research Council/United Kingdom ; C302/A14532//Cancer Research UK/United Kingdom ; }, mesh = {Animals ; DNA Repair/*physiology ; Genetic Research/*history ; Genomic Instability/*physiology ; History, 20th Century ; Humans ; Neoplasms/genetics/*history/pathology ; }, abstract = {The multistep process of cancer progresses over many years. The prevention of mutations by DNA repair pathways led to an early appreciation of a role for repair in cancer avoidance. However, the broader role of the DNA damage response (DDR) emerged more slowly. In this Timeline article, we reflect on how our understanding of the steps leading to cancer developed, focusing on the role of the DDR. We also consider how our current knowledge can be exploited for cancer therapy.}, }
@article {pmid26651239, year = {2016}, author = {Liu, Y and Li, X}, title = {Darwin and Mendel today: a comment on &quot;Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution&quot;.}, journal = {Genome}, volume = {59}, number = {1}, pages = {75-77}, doi = {10.1139/gen-2015-0155}, pmid = {26651239}, issn = {1480-3321}, mesh = {*Biological Evolution ; Genetic Research/*history ; *Imagination ; *Selection, Genetic ; }, abstract = {We comment on a recent paper by Rama Singh, who concludes that Mendel deserved to be called the father of genetics, and Darwin would not have understood the significance of Mendel's paper had he read it. We argue that Darwin should have been regarded as the father of genetics not only because he was the first to formulate a unifying theory of heredity, variation, and development -- Pangenesis, but also because he clearly described almost all genetical phenomena of fundamental importance, including what he called &quot;prepotency&quot; and what we now call &quot;dominance&quot; or &quot;Mendelian inheritance&quot;. The word &quot;gene&quot; evolved from Darwin's imagined &quot;gemmules&quot;, instead of Mendel's so-called &quot;factors&quot;.}, }
@article {pmid26632584, year = {2015}, author = {Rohwer, F and Segall, AM}, title = {In retrospect: A century of phage lessons.}, journal = {Nature}, volume = {528}, number = {7580}, pages = {46-48}, pmid = {26632584}, issn = {1476-4687}, mesh = {*Bacteriophages/genetics/immunology/pathogenicity/physiology ; CRISPR-Cas Systems/genetics ; Cyanobacteria/genetics/metabolism/virology ; Evolution, Molecular ; Gene Transfer, Horizontal/genetics ; Genome, Viral/genetics ; History, 20th Century ; History, 21st Century ; Host-Pathogen Interactions/genetics ; Humans ; Molecular Biology/*history ; Mutagenesis/genetics ; Neoplasms/genetics/pathology ; Oncogenes/genetics ; Photosynthesis ; Sequence Analysis, DNA/history ; Synthetic Biology/trends ; }, }
@article {pmid26631162, year = {2016}, author = {Friedman, B and Hughes, A}, title = {Austin L. Hughes 1949-2015.}, journal = {Immunogenetics}, volume = {68}, number = {1}, pages = {1}, pmid = {26631162}, issn = {1432-1211}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Immunogenetics/*history ; Vertebrates/genetics/immunology ; }, }
@article {pmid26620108, year = {2015}, author = {Wharton, K}, title = {William Martin Gelbart 1945-2015.}, journal = {Nature genetics}, volume = {47}, number = {12}, pages = {1372}, doi = {10.1038/ng.3455}, pmid = {26620108}, issn = {1546-1718}, mesh = {*Awards and Prizes ; *Biomedical Research ; Genetics/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid26619767, year = {2015}, author = {Métneki, J}, title = {Professor Andrew E. Czeizel, Hungary (April 3, 1935-August 10, 2015).}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {18}, number = {6}, pages = {819-822}, doi = {10.1017/thg.2015.79}, pmid = {26619767}, issn = {1832-4274}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Hungary ; }, }
@article {pmid26612012, year = {2016}, author = {Ács, N and Bánhidy, F and Sankaranarayanan, K and Merhala, Z}, title = {Obituary.}, journal = {The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians}, volume = {29}, number = {1}, pages = {169-171}, doi = {10.3109/14767058.2015.1121952}, pmid = {26612012}, issn = {1476-4954}, mesh = {Epidemiology/history ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Hungary ; *Registries ; Teratology/*history ; }, }
@article {pmid26606830, year = {2015}, author = {Evgen'ev, MB}, title = {[Vladimir Igorevich Mitrofanov].}, journal = {Ontogenez}, volume = {46}, number = {5}, pages = {360}, pmid = {26606830}, issn = {0475-1450}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; Russia ; }, }
@article {pmid26605641, year = {2015}, author = {Ruggieri, M}, title = {Molecular Medicine Commemorates the Achievements of the First 20 Years.}, journal = {Molecular medicine (Cambridge, Mass.)}, volume = {21 Suppl 1}, number = {}, pages = {S1-2}, doi = {10.2119/molmed.2015.00216}, pmid = {26605641}, issn = {1528-3658}, mesh = {*Achievement ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Medicine/*history/trends ; Periodicals as Topic ; }, }
@article {pmid26582793, year = {2015}, author = {Viegas, J}, title = {QnAs with Jeannie T. Lee.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {48}, pages = {14745-14746}, pmid = {26582793}, issn = {1091-6490}, mesh = {Animals ; Female ; Gene Silencing ; Genetic Research ; Genetics/history ; Genomic Imprinting ; History, 20th Century ; Humans ; Male ; Mice ; *RNA, Long Noncoding/genetics ; X Chromosome Inactivation/*genetics ; }, }
@article {pmid26564398, year = {2016}, author = {Lockshin, RA}, title = {Programmed cell death 50 (and beyond).}, journal = {Cell death and differentiation}, volume = {23}, number = {1}, pages = {10-17}, pmid = {26564398}, issn = {1476-5403}, mesh = {Apoptosis/*genetics ; Autophagy/*genetics ; *Cellular Microenvironment ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {In the 50 years since we described cell death as 'programmed,' we have come far, thanks to the efforts of many brilliant researchers, and we now understand the mechanics, the biochemistry, and the genetics of many of the ways in which cells can die. This knowledge gives us the resources to alter the fates of many cells. However, not all cells respond similarly to the same stimulus, in either sensitivity to the stimulus or timing of the response. Cells prevented from dying through one pathway may survive, survive in a crippled state, or die following a different pathway. To fully capitalize on our knowledge of cell death, we need to understand much more about how cells are targeted to die and what aspects of the history, metabolism, or resources available to individual cells determine how each cell reaches and crosses the threshold at which it commits to death.}, }
@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 {pmid26548914, year = {2015}, author = {Loman, NJ and Pallen, MJ}, title = {Twenty years of bacterial genome sequencing.}, journal = {Nature reviews. Microbiology}, volume = {13}, number = {12}, pages = {787-794}, pmid = {26548914}, issn = {1740-1534}, support = {BB/E011179/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; MR/J014370/1//Medical Research Council/United Kingdom ; MR/M501621/1//Medical Research Council/United Kingdom ; MR/L015080/1//Medical Research Council/United Kingdom ; }, mesh = {DNA, Bacterial/*chemistry/*genetics ; *Genome, Bacterial ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/history/methods/trends ; Molecular Typing/history/methods/trends ; Sequence Analysis, DNA/*history/*methods/trends ; }, abstract = {Twenty years ago, the publication of the first bacterial genome sequence, from Haemophilus influenzae, shook the world of bacteriology. In this Timeline, we review the first two decades of bacterial genome sequencing, which have been marked by three revolutions: whole-genome shotgun sequencing, high-throughput sequencing and single-molecule long-read sequencing. We summarize the social history of sequencing and its impact on our understanding of the biology, diversity and evolution of bacteria, while also highlighting spin-offs and translational impact in the clinic. We look forward to a 'sequencing singularity', where sequencing becomes the method of choice for as-yet unthinkable applications in bacteriology and beyond.}, }
@article {pmid26548913, year = {2015}, author = {Salmond, GP and Fineran, PC}, title = {A century of the phage: past, present and future.}, journal = {Nature reviews. Microbiology}, volume = {13}, number = {12}, pages = {777-786}, pmid = {26548913}, issn = {1740-1534}, support = {BB/G000298/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; BB/H002677/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Bacteria/pathogenicity/*virology ; Bacteriophages/genetics/*isolation &amp; purification/*physiology ; Biological Therapy/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/methods/trends ; Virology/*history/methods/trends ; }, abstract = {Viruses that infect bacteria (bacteriophages; also known as phages) were discovered 100 years ago. Since then, phage research has transformed fundamental and translational biosciences. For example, phages were crucial in establishing the central dogma of molecular biology - information is sequentially passed from DNA to RNA to proteins - and they have been shown to have major roles in ecosystems, and help drive bacterial evolution and virulence. Furthermore, phage research has provided many techniques and reagents that underpin modern biology - from sequencing and genome engineering to the recent discovery and exploitation of CRISPR-Cas phage resistance systems. In this Timeline, we discuss a century of phage research and its impact on basic and applied biology.}, }
@article {pmid26544139, year = {2015}, author = {Miller, HI}, title = {Recasting Asilomar's lessons for human germline editing.}, journal = {Nature biotechnology}, volume = {33}, number = {11}, pages = {1132-1134}, pmid = {26544139}, issn = {1546-1696}, mesh = {Gene Transfer Techniques ; *Genetic Research/history/legislation &amp; jurisprudence ; *Genetic Therapy/history/legislation &amp; jurisprudence ; Germ Cells ; History, 20th Century ; Humans ; United States ; }, }
@article {pmid26540846, year = {2015}, author = {Pai-Dhungat, JV}, title = {John Gregor Mendel (1822-1884).}, journal = {The Journal of the Association of Physicians of India}, volume = {63}, number = {3}, pages = {60-61}, pmid = {26540846}, issn = {0004-5772}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; *Philately ; }, }
@article {pmid26526394, year = {2016}, author = {Ács, N and Bánhidy, F and Sankaranarayanan, K and Merhala, Z}, title = {Andrew E. Czeizel, 3 April 1935-10 August 2015.}, journal = {Congenital anomalies}, volume = {56}, number = {1}, pages = {4-5}, doi = {10.1111/cga.12141}, pmid = {26526394}, issn = {1741-4520}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Hungary ; }, }
@article {pmid26524588, year = {2015}, author = {Smithies, O and Neill, US}, title = {A conversation with Oliver Smithies.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {11}, pages = {3997-3998}, doi = {10.1172/JCI84087}, pmid = {26524588}, issn = {1558-8238}, support = {R01 HL049277/HL/NHLBI NIH HHS/United States ; }, mesh = {Electrophoresis, Starch Gel/history ; England ; Gene Targeting/*history/methods ; History, 20th Century ; History, 21st Century ; Homologous Recombination ; Humans ; Molecular Biology/*history ; *Nobel Prize ; United States ; }, }
@article {pmid26516638, year = {2015}, author = {Haig, D}, title = {David Haig.}, journal = {Current biology : CB}, volume = {25}, number = {16}, pages = {R700-2}, doi = {10.1016/j.cub.2015.07.002}, pmid = {26516638}, issn = {1879-0445}, mesh = {Australia ; *Biological Evolution ; *Conflict, Psychological ; Ethology/*history ; Genetics, Behavioral/*history ; *Genomic Imprinting ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26502659, year = {2015}, author = {Iida, K}, title = {A controversial idea as a cultural resource: The Lysenko controversy and discussions of genetics as a 'democratic' science in postwar Japan.}, journal = {Social studies of science}, volume = {45}, number = {4}, pages = {546-569}, doi = {10.1177/0306312715596460}, pmid = {26502659}, issn = {0306-3127}, mesh = {Democracy ; Genetics/*history ; History, 20th Century ; Japan ; Societies, Scientific/history ; USSR ; }, abstract = {The Japanese discussion of the theory of Soviet agronomist Trofim D. Lysenko began in the postwar years under the American occupation. Leftists introduced Lysenko's theory immediately after the war as part of a postwar scientists' movement. Unlike many American geneticists, who sharply criticized the theory, Japanese geneticists initially participated in the discussion in an even-handed way; their scientific interests in the roles of cytoplasm and the environment in heredity shaped their initial sympathetic reaction. As the Cold War divide deepened, however, Japanese scientists began expressing sharp anti-Lysenko criticisms that resembled the American criticisms. Interestingly, throughout the period, Japanese geneticists' overall aim in the discussion remained largely unchanged: to effectively reconstruct their discipline and maintain its proper image and authority. However, the shift in their reaction occurred due to an evolving sociopolitical context, especially the shift in the meaning of 'democratic' science from a science that employed democratic processes to a science of a liberal-democratic state. Regarding Lysenko's idea as a cultural resource could help to explain how and why it was treated differently in different places, and why a controversy emerged in certain contexts but not in others.}, }
@article {pmid26499244, year = {2015}, author = {Hood, L and Rothenberg, EV}, title = {Developmental biologist Eric H. Davidson, 1937-2015.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {44}, pages = {13423-13425}, pmid = {26499244}, issn = {1091-6490}, mesh = {Animals ; Developmental Biology/*history ; Gene Expression Regulation, Developmental ; *Gene Regulatory Networks ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Strongylocentrotus purpuratus/embryology/*genetics ; United States ; }, }
@article {pmid26486645, year = {2016}, author = {Maienschein, J}, title = {Garland Allen, Thomas Hunt Morgan, and Development.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {587-601}, pmid = {26486645}, issn = {1573-0387}, mesh = {Animals ; Biographies as Topic ; Biology/*history ; Genetics/*history ; Growth and Development ; Historiography ; History, 20th Century ; Nobel Prize ; Regeneration ; United States ; }, abstract = {Garland E. Allen's 1978 biography of the Nobel Prize winning biologist Thomas Hunt Morgan provides an excellent study of the man and his science. Allen presents Morgan as an opportunistic scientist who follows where his observations take him, leading him to his foundational work in Drosophila genetics. The book was rightfully hailed as an important achievement and it introduced generations of readers to Morgan. Yet, in hindsight, Allen's book largely misses an equally important part of Morgan's work - his study of development and regeneration. It is worth returning to this part of Morgan, exploring what Morgan contributed and also why he has been seen by contemporaries and historians such as Allen as having set aside some of the most important developmental problems. A closer look shows how Morgan's view of cells and development that was different from that of his most noted contemporaries led to interpretation of his important contributions in favor of genetics. This essay is part of a special issue, revisiting Garland Allen's views on the history of life sciences in the twentieth century.}, }
@article {pmid26471927, year = {2015}, author = {Witteveen, J}, title = {&quot;A temporary oversimplification&quot;: Mayr, Simpson, Dobzhansky, and the origins of the typology/population dichotomy (part 1 of 2).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {54}, number = {}, pages = {20-33}, doi = {10.1016/j.shpsc.2015.09.007}, pmid = {26471927}, issn = {1879-2499}, mesh = {Biological Evolution ; Genetics/*history ; History, 20th Century ; Philosophy/*history ; }, abstract = {The dichotomy between 'typological thinking' and 'population thinking' features in a range of debates in contemporary and historical biology. The origins of this dichotomy are often traced to Ernst Mayr, who is said to have coined it in the 1950s as a rhetorical device that could be used to shield the Modern Synthesis from attacks by the opponents of population biology. In this two-part essay I argue that the origins of the typology/population dichotomy are considerably more complicated and more interesting than is commonly thought. In this first part, I will argue that Mayr's dichotomy was based on two distinct type/population contrasts that had been articulated much earlier by George Gaylord Simpson and Theodosius Dobzhansky. Their distinctions made eminent sense in their own, isolated contexts. In the second part, I will show how Mayr conflated these type/population distinctions and blended in some of his own, unrelated concerns with 'types' of a rather different sort. Although Mayr told his early critics that he was merely making &quot;a temporary oversimplification,&quot; he ended up burdening the history and philosophy of biology with a troubled dichotomy.}, }
@article {pmid26471926, year = {2016}, author = {Witteveen, J}, title = {&quot;A temporary oversimplification&quot;: Mayr, Simpson, Dobzhansky, and the origins of the typology/population dichotomy (part 2 of 2).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {57}, number = {}, pages = {96-105}, doi = {10.1016/j.shpsc.2015.09.006}, pmid = {26471926}, issn = {1879-2499}, mesh = {Biological Evolution ; Genetics/*history ; History, 20th Century ; Philosophy/*history ; }, abstract = {The dichotomy between 'typological thinking' and 'population thinking' features in a range of debates in contemporary and historical biology. The origins of this dichotomy are often traced to Ernst Mayr, who is said to have coined it in the 1950s as a rhetorical device that could be used to shield the Modern Synthesis from attacks by the opponents of population biology. In this two-part essay, I argue that the origins of the typology/population dichotomy are considerably more complicated and more interesting than is commonly thought. In the first part, I argued that Mayr's dichotomy was based on two distinct type/population contrasts that had been articulated much earlier by George Gaylord Simpson and Theodosius Dobzhansky. Their distinctions made eminent sense in their own, isolated contexts. In this second part, I will show how Mayr conflated these type/population distinctions and blended in some of his own, unrelated concerns with 'types' of a rather different sort. Although Mayr told his early critics that he was merely making &quot;a temporary oversimplification,&quot; he ended up burdening the history and philosophy of biology with a troubled dichotomy.}, }
@article {pmid26471494, year = {2016}, author = {Erlingsson, SJ}, title = {&quot;Enfant Terrible&quot;: Lancelot Hogben's Life and Work in the 1920s.}, journal = {Journal of the history of biology}, volume = {49}, number = {3}, pages = {495-526}, pmid = {26471494}, issn = {1573-0387}, mesh = {Animals ; Depressive Disorder/history ; *Environment ; Genetics/history ; *Heredity ; History, 20th Century ; Humans ; Male ; South Africa ; United Kingdom ; Zoology/*history ; }, abstract = {Until recently the British zoologist Lancelot Hogben (1895-1975) has usually appeared as a campaigning socialist, an anti-eugenicist or a popularizer of science in the literature. The focus has mainly been on Hogben after he became a professor of social biology at the London School of Economics in 1930. This paper focuses on Hogben's life in the 1920s. Early in the decade, while based in London, he focused on cytology, but in 1922, after moving to Edinburgh, he turned his focus on experimental zoology, first concentrating on vertebrate endocrinology and later moving over to the comparative physiology of invertebrate muscle. In the early 1920s Hogben played an active role in the development of experimental zoology in Britain. As such he was a fearless critic of evolutionary and metaphysical speculations. But in this period Hogben's career prospects were seriously hampered by his confrontational nature and serious depression. As a result he was forced to leave Britain in 1925. He first accepted a position in Canada and in the period 1927-1930 he was a professor of zoology in South Africa. This paper will also add crucial new material to James Tabery's recent discussion of the history behind Hogben's ideas about the interaction of heredity and environment in individual development. In addition a previously unknown Lamarckian controversy will be discussed.}, }
@article {pmid26469070, year = {2015}, author = {Gitschier, J}, title = {Your Data to Explore: An Interview with Anne Wojcicki.}, journal = {PLoS genetics}, volume = {11}, number = {10}, pages = {e1005548}, doi = {10.1371/journal.pgen.1005548}, pmid = {26469070}, issn = {1553-7404}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26463979, year = {2015}, author = {Mount, SM and Wolin, SL}, title = {Recognizing the 35th anniversary of the proposal that snRNPs are involved in splicing.}, journal = {Molecular biology of the cell}, volume = {26}, number = {20}, pages = {3557-3560}, pmid = {26463979}, issn = {1939-4586}, support = {R01 GM073863/GM/NIGMS NIH HHS/United States ; R01GM073863/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; RNA Splicing/genetics ; RNA, Messenger/genetics ; Ribonucleoproteins, Small Nuclear/*genetics/*history ; Spliceosomes/genetics ; }, abstract = {Thirty-five years ago, as young graduate students, we had the pleasure and privilege of being in Joan Steitz's laboratory at a pivotal point in the history of RNA molecular biology. Introns had recently been discovered in the laboratories of Philip Sharp and Richard Roberts, but the machinery for removing them from mRNA precursors was entirely unknown. This Retrospective describes our hypothesis that recently discovered snRNPs functioned in pre-mRNA splicing. The proposal was proven correct, as has Joan's intuition that small RNAs provide specificity to RNA processing reactions through base pairing in diverse settings. However, research over the intervening years has revealed that both splice site selection and splicing itself are much more complex and dynamic than we imagined.}, }
@article {pmid26463495, year = {2016}, author = {Farber, PL}, title = {Dobzhansky and Montagu's Debate on Race: The Aftermath.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {625-639}, doi = {10.1007/s10739-015-9428-1}, pmid = {26463495}, issn = {1573-0387}, mesh = {Anthropology/history ; Biological Evolution ; Biological Science Disciplines/*history ; *Continental Population Groups/genetics ; Dissent and Disputes/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Dobzhansky and Montagu debated the use and validity of the term &quot;race&quot; over a period of decades. They failed to reach an agreement, and the &quot;debate&quot; has continued to the present. The ms contains an account of the debate to the present. This essay is part of a Special Issue, Revisiting Garland Allen's Views on the History of the Life Sciences in the Twentieth Century.}, }
@article {pmid26459668, year = {2016}, author = {García-Sancho, M}, title = {The proactive historian: Methodological opportunities presented by the new archives documenting genomics.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {70-82}, doi = {10.1016/j.shpsc.2015.09.005}, pmid = {26459668}, issn = {1879-2499}, mesh = {*Archives/history ; Genomics/*history ; Historiography ; History, 21st Century ; Human Genome Project/history/organization &amp; administration ; Humans ; Records ; }, abstract = {In this paper, I propose a strategy for navigating newly available archives in the study of late-twentieth century genomics. I demonstrate that the alleged 'explosion of data' characteristic of genomics-and of contemporary science in general-is not a new problem and that historians of earlier periods have dealt with information overload by relying on the 'perspective of time': the filtering effect the passage of time naturally exerts on both sources and memories. I argue that this reliance on the selective capacity of time results in inheriting archives curated by others and, consequently, poses the risk of reifying ahistorical scientific discourses. Through a preliminary examination of archives documenting early attempts at mapping and sequencing the human genome, I propose an alternative approach, in which historians proactively problematize and improve available sources. This approach provides historians with a voice in the socio-political management of scientific heritage and advances methodological innovations in the use of oral histories. It also provides a narrative framework in which to address big science initiatives by following second order administrators, rather than individual scientists. The new genomic archives thus represent an opportunity for historians to take an active role in current debates concerning 'big data' and critically embed the humanities in pressing global problems.}, }
@article {pmid26456508, year = {2016}, author = {Lindee, S}, title = {Human genetics after the bomb: Archives, clinics, proving grounds and board rooms.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {45-53}, doi = {10.1016/j.shpsc.2015.09.001}, pmid = {26456508}, issn = {1879-2499}, mesh = {Archives/*history ; Genetic Predisposition to Disease/genetics/history ; Genetics, Medical/*history ; Genomics/history ; History, 20th Century ; Humans ; Japan ; Nuclear Weapons/*history ; Radiation Injuries/genetics/history ; United States ; }, abstract = {In this paper I track the history of post-1945 human genetics and genomics emphasizing the importance of ideas about risk to the scientific study and medical management of human heredity. Drawing on my own scholarship as it is refracted through important new work by other scholars both junior and senior, I explore how radiation risk and then later disease risk mattered to the development of genetics and genomics, particularly in the United States. In this context I excavate one of the central ironies of post-war human genetics: while studies of DNA as the origin and cause of diseases have been lavishly supported by public institutions and private investment around the world, the day-to-day labor of intensive clinical innovation has played a far more important role in the actual human experience of genetic disease and genetic risk for affected families. This has implications for the archival record, where clinical interactions are less readily accessible to historians. This paper then suggests that modern genomics grew out of radiation risk; that it was and remains a risk assessment science; that it is temporally embedded as a form of both prediction and historical reconstruction; and that it has become a big business focused more on risk and prediction (which can be readily marketed) than on effective clinical intervention.}, }
@article {pmid26450889, year = {2015}, author = {Bolli, R}, title = {Editor's Preamble to the Profile of Eric Olson.}, journal = {Circulation research}, volume = {117}, number = {9}, pages = {e66}, doi = {10.1161/CIRCRESAHA.115.307564}, pmid = {26450889}, issn = {1524-4571}, mesh = {Cardiology/history ; Heart ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Muscle Development/*genetics ; Myocardium/*metabolism ; Texas ; }, }
@article {pmid26450195, year = {2015}, author = {Radick, G}, title = {HISTORY OF SCIENCE. Beyond the &quot;Mendel-Fisher controversy&quot;.}, journal = {Science (New York, N.Y.)}, volume = {350}, number = {6257}, pages = {159-160}, doi = {10.1126/science.aab3846}, pmid = {26450195}, issn = {1095-9203}, mesh = {Breeding/*history/statistics &amp; numerical data ; Chi-Square Distribution ; Data Interpretation, Statistical ; Evaluation Studies as Topic ; Genetic Variation ; Genetics/*history/statistics &amp; numerical data ; History, 19th Century ; Peas/genetics ; Scientific Misconduct/*history/statistics &amp; numerical data ; }, }
@article {pmid26450050, year = {2015}, author = {Cameron, A}, title = {Eric H. Davidson (1937-2015).}, journal = {Nature}, volume = {526}, number = {7572}, pages = {196}, pmid = {26450050}, issn = {1476-4687}, mesh = {Animals ; Cell Differentiation/genetics ; *Gene Regulatory Networks ; History, 20th Century ; Molecular Biology/*history ; Systems Biology/*history ; United States ; }, }
@article {pmid26447131, year = {2015}, author = {Kaufman, T}, title = {In Memoriam William Martin Gelbart (1945-2015).}, journal = {Genetics}, volume = {201}, number = {2}, pages = {809-810}, doi = {10.1534/genetics.115.182238}, pmid = {26447131}, issn = {1943-2631}, mesh = {Animals ; Drosophila melanogaster/genetics ; Genetics/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26443532, year = {2015}, author = {Fishkin, CA}, title = {Remembering J. A. Cifonelli (1916-2005) An Early Leader in Glycosaminoglycan Biochemistry.}, journal = {Glycobiology}, volume = {25}, number = {11}, pages = {1139-1141}, doi = {10.1093/glycob/cwv085}, pmid = {26443532}, issn = {1460-2423}, mesh = {Glycomics/*history ; Glycosaminoglycans/*metabolism ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26443531, year = {2015}, author = {West, CM}, title = {The 2015 Karl Meyer Lectureship Award and the Rosalind Kornfeld Award for Lifetime Achievement in Glycobiology, from the Society for Glycobiology.}, journal = {Glycobiology}, volume = {25}, number = {11}, pages = {1137-1138}, doi = {10.1093/glycob/cwv086}, pmid = {26443531}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history/organization &amp; administration ; History, 20th Century ; History, 21st Century ; *Societies, Scientific ; United States ; }, }
@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//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 {pmid26432225, year = {2015}, author = {Green, ED and Watson, JD and Collins, FS}, title = {Human Genome Project: Twenty-five years of big biology.}, journal = {Nature}, volume = {526}, number = {7571}, pages = {29-31}, pmid = {26432225}, issn = {1476-4687}, mesh = {Cooperative Behavior ; Datasets as Topic/history ; Genome, Human/genetics ; History, 20th Century ; Human Genome Project/*history/organization &amp; administration ; Humans ; Information Dissemination/history ; Microbiota/genetics ; National Human Genome Research Institute (U.S.)/history ; Neoplasms/genetics ; Research Personnel/history/organization &amp; administration ; United States ; }, }
@article {pmid26431843, year = {2015}, author = {Kranz, G}, title = {[Not Available].}, journal = {Wiener klinische Wochenschrift}, volume = {127}, number = {19-20}, pages = {799-800}, pmid = {26431843}, issn = {1613-7671}, mesh = {Austria ; *Awards and Prizes ; Biological Psychiatry/*history ; Endocrinology/*history ; History, 21st Century ; Hormone Replacement Therapy/*history ; Molecular Biology/*history ; Transgender Persons/*history ; }, }
@article {pmid26430706, year = {2015}, author = {Schachter, H}, title = {Robert Spiro Obituary.}, journal = {Glycoconjugate journal}, volume = {32}, number = {6}, pages = {343-344}, doi = {10.1007/s10719-015-9598-2}, pmid = {26430706}, issn = {1573-4986}, mesh = {Glycomics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26430164, year = {2015}, author = {Sussman, HE}, title = {20 Years of Genome Research. Preface.}, journal = {Genome research}, volume = {25}, number = {10}, pages = {xv}, doi = {10.1101/gr.199026.115}, pmid = {26430164}, issn = {1549-5469}, mesh = {Genetic Research/*history ; *Genome ; History, 20th Century ; History, 21st Century ; Humans ; Publishing/*history ; }, }
@article {pmid26426073, year = {2015}, author = {Hobbs, H and Neill, US}, title = {A conversation with Helen Hobbs.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {10}, pages = {3725-3726}, doi = {10.1172/JCI84086}, pmid = {26426073}, issn = {1558-8238}, mesh = {African Americans/genetics ; California ; Cardiovascular Diseases/ethnology/genetics ; Codon, Nonsense ; Cohort Studies ; Coronary Disease/ethnology/genetics ; European Continental Ancestry Group/genetics ; Founder Effect ; Genetic Predisposition to Disease ; Genetic Variation ; Genetics, Medical/*history ; Genetics, Population/*history ; Hispanic Americans/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Hyperlipoproteinemia Type II/epidemiology/genetics ; Lipoproteins, LDL/blood/deficiency ; Mutation ; Proprotein Convertase 9 ; Proprotein Convertases/deficiency/*genetics/physiology ; Receptors, LDL/deficiency ; Serine Endopeptidases/deficiency/*genetics/physiology ; Texas/epidemiology ; }, }
@article {pmid26419800, year = {2015}, author = {Lloyd, A and Sahai, E}, title = {Chris Marshall 1949-2015.}, journal = {Nature cell biology}, volume = {17}, number = {10}, pages = {1229}, doi = {10.1038/ncb3247}, pmid = {26419800}, issn = {1476-4679}, mesh = {Cell Biology/*history ; Cell Transformation, Neoplastic/genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Neoplasms/genetics/*history ; United Kingdom ; ras Proteins/genetics ; }, }
@article {pmid26414334, year = {2016}, author = {Bud, R}, title = {Representing scale: What should be special about the heritage of mass science?.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {117-119}, doi = {10.1016/j.shpsc.2015.08.008}, pmid = {26414334}, issn = {1879-2499}, mesh = {Genomics/history ; *History, 21st Century ; Molecular Biology/history ; Science/history ; }, abstract = {This symposium marks the achievement of a transformation in the history of science. Whereas in the 1960s, the study of modern developments was marginal to the field, it has now become a key part of the discipline's central concerns. The contrast between this conference and a 1960 symposium is illuminating. The paper reflects on the tensions over the future direction of the discipline expressed at the 1974 semi-centenary conference of the History of Science Society. Today, genomics with its vast demand for resources and its challenges to traditional boundaries is not untypical of a wide range of scientific activities. Its study can serve as a pioneering case study interesting for itself and important for a wider understanding of science. Papers at this meeting show the implications for the understanding of methods, appropriate targets of study, the interpretation of images and the preservation of archives.}, }
@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 = {//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, &quot;The Mechanism of Mendelian Heredity&quot; 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 {pmid26406361, year = {2015}, author = {Birchler, JA}, title = {Mendel, mechanism, models, marketing, and more.}, journal = {Cell}, volume = {163}, number = {1}, pages = {9-11}, doi = {10.1016/j.cell.2015.09.008}, pmid = {26406361}, issn = {1097-4172}, mesh = {Animals ; Chickens/genetics ; Crosses, Genetic ; Genetics/*history ; History, 18th Century ; *Models, Genetic ; Peas/genetics ; Zea mays/genetics ; }, abstract = {This year marks the 150(th) anniversary of the presentation by Gregor Mendel of his studies of plant hybridization to the Brunn Natural History Society. Their nature and meaning have been discussed many times. However, on this occasion, we reflect on the scientific enterprise and the perception of new discoveries.}, }
@article {pmid26394718, year = {2015}, author = {Carmona, D and Fitzpatrick, CR and Johnson, MT}, title = {Fifty years of co-evolution and beyond: integrating co-evolution from molecules to species.}, journal = {Molecular ecology}, volume = {24}, number = {21}, pages = {5315-5329}, doi = {10.1111/mec.13389}, pmid = {26394718}, issn = {1365-294X}, mesh = {Adaptation, Biological/genetics ; *Biological Evolution ; *Evolution, Molecular ; Genetic Fitness ; Genetics/history ; Genetics, Population ; History, 20th Century ; History, 21st Century ; *Models, Biological ; Selection, Genetic ; }, abstract = {Fifty years after Ehrlich and Raven's seminal paper, the idea of co-evolution continues to grow as a key concept in our understanding of organic evolution. This concept has not only provided a compelling synthesis between evolutionary biology and community ecology, but has also inspired research that extends beyond its original scope. In this article, we identify unresolved questions about the co-evolutionary process and advocate for the integration of co-evolutionary research from molecular to interspecific interactions. We address two basic questions: (i) What is co-evolution and how common is it? (ii) What is the unit of co-evolution? Both questions aim to explore the heart of the co-evolutionary process. Despite the claim that co-evolution is ubiquitous, we argue that there is in fact little evidence to support the view that reciprocal natural selection and coadaptation are common in nature. We also challenge the traditional view that co-evolution only occurs between traits of interacting species. Co-evolution has the potential to explain evolutionary processes and patterns that result from intra- and intermolecular biochemical interactions within cells, intergenomic interactions (e.g. nuclear-cytoplasmic) within species, as well as intergenomic interactions mediated by phenotypic traits between species. Research that bridges across these levels of organization will help to advance our understanding of the importance of the co-evolutionary processes in shaping the diversity of life on Earth.}, }
@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 &quot;formal&quot; 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 {pmid26390754, year = {2014}, author = {Poggio, T and Poggio, A}, title = {DONALD ARTHUR GLASER: 21 SEPTEMBER 1926 - 28 FEBRUARY 2013.}, journal = {Proceedings of the American Philosophical Society}, volume = {158}, number = {3}, pages = {311-315}, pmid = {26390754}, issn = {0003-049X}, mesh = {California ; History, 20th Century ; History, 21st Century ; Michigan ; Molecular Biology/*history ; Neurobiology/*history ; Physics/*history ; }, }
@article {pmid26389148, year = {2015}, author = {}, title = {Special issue in honor of John James on the occasion of his 80th birthday.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {2}, pages = {85-203}, pmid = {26389148}, issn = {1439-0388}, mesh = {Animal Husbandry ; Animals ; Australia ; Breeding/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Queensland ; }, }
@article {pmid26388555, year = {2016}, author = {Shaw, J}, title = {Documenting genomics: Applying archival theory to preserving the records of the Human Genome Project.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {61-69}, pmid = {26388555}, issn = {1879-2499}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {*Archives/history ; History, 21st Century ; Human Genome Project/*history/organization &amp; administration ; Humans ; Records ; United Kingdom ; United States ; }, abstract = {The Human Genome Archive Project (HGAP) aimed to preserve the documentary heritage of the UK's contribution to the Human Genome Project (HGP) by using archival theory to develop a suitable methodology for capturing the results of modern, collaborative science. After assessing past projects and different archival theories, the HGAP used an approach based on the theory of documentation strategy to try to capture the records of a scientific project that had an influence beyond the purely scientific sphere. The HGAP was an archival survey that ran for two years. It led to ninety scientists being contacted and has, so far, led to six collections being deposited in the Wellcome Library, with additional collections being deposited in other UK repositories. In applying documentation strategy the HGAP was attempting to move away from traditional archival approaches to science, which have generally focused on retired Nobel Prize winners. It has been partially successful in this aim, having managed to secure collections from people who are not 'big names', but who made an important contribution to the HGP. However, the attempt to redress the gender imbalance in scientific collections and to improve record-keeping in scientific organisations has continued to be difficult to achieve.}, }
@article {pmid26386516, year = {2016}, author = {Serpente, N}, title = {Justifying molecular images in cell biology textbooks: From constructions to primary data.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {105-116}, doi = {10.1016/j.shpsc.2015.08.007}, pmid = {26386516}, issn = {1879-2499}, mesh = {Animals ; Archives ; *Books, Illustrated/history ; *Cell Biology/history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history ; *Textbooks as Topic/history ; }, abstract = {For scientific claims to be reliable and productive they have to be justified. However, on the one hand little is known on what justification precisely means to scientists, and on the other the position held by philosophers of science on what it entails is rather limited; for justifications customarily refer to the written form (textual expressions) of scientific claims, leaving aside images, which, as many cases from the history of science show are relevant to this process. The fact that images can visually express scientific claims independently from text, plus their vast variety and origins, requires an assessment of the way they are currently justified and in turn used as sources to justify scientific claims in the case of particular scientific fields. Similarly, in view of the different nature of images, analysis is required to determine on what side of the philosophical distinction between data and phenomena these different kinds of images fall. This paper historicizes and documents a particular aspect of contemporary life sciences research: the use of the molecular image as vehicle of knowledge production in cell studies, a field that has undergone a significant shift in visual expressions from the early 1980s onwards. Focussing on textbooks as sources that have been overlooked in the historiography of contemporary biomedicine, the aim is to explore (1) whether the shift of cell studies, entailing a superseding of the optical image traditionally conceptualised as primary data, by the molecular image, corresponds with a shift of justificatory practices, and (2) to assess the role of the molecular image as primary data. This paper also explores the dual role of images as teaching resources and as resources for the construction of knowledge in cell studies especially in its relation to discovery and justification. Finally, this paper seeks to stimulate reflection on what kind of archival resources could benefit the work of present and future epistemic historians in particular those interested on the role of images as sources of training and knowledge production in scientific disciplines.}, }
@article {pmid26383132, year = {2016}, author = {Aicardi, C}, title = {Francis Crick, cross-worlds influencer: A narrative model to historicize big bioscience.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {83-95}, pmid = {26383132}, issn = {1879-2499}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {California ; *Historiography ; History, 20th Century ; Molecular Biology/*history ; United Kingdom ; }, abstract = {The essay is an empirical case study of famed British scientist Francis Crick. Viewing him as a 'cross-worlds influencer' who was moreover dedicated to a cause, I have tried to understand how these two characteristics influenced the trajectory of his long career and how they shaped his contributions to the diverse research fields in which he was active, and concluded that these characteristics reconfigure Crick's career into a coherent whole. First, I identify a major thread running through Crick's career: helping organise 'un-disciplined' new research fields, and show that his successive choices were not serendipitous but motivated by what he construed as a crusade against 'vitalism': anti-vitalism was a defining driver of his career. I then examine how Crick put his skills as a crossworlds influencer to the service of his cause, by helping organise his chosen fields of intervention. I argue that his activities as a cross-worlds influencer were an integral part of his way of 'doing science' and that his contributions to science, neuroscience in particular, should be re-evaluated in this light. This leads me to advance a possible strategy for historians to investigate big bioscience fields. Following Abir-Am, I propose to trace their genealogies back to the fluctuating semi-institutional gatherings and the institutional structures that sustained them. My research on Crick supports the view that such studies can bring insights into the question of why the contours of contemporary big bioscience endeavours have come to be shaped the way they are. Further, the essay provides a heuristic device for approaching these enquiries: 'follow the cross-worlds influencers' who worked to build and organise these semi-institutional gatherings and institutional structures.}, }
@article {pmid26372894, year = {2015}, author = {Singh, RS}, title = {Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution.}, journal = {Genome}, volume = {58}, number = {9}, pages = {415-421}, doi = {10.1139/gen-2015-0107}, pmid = {26372894}, issn = {1480-3321}, mesh = {Anniversaries and Special Events ; *Biological Evolution ; Genetic Research/*history ; Genetic Variation ; History, 19th Century ; History, 20th Century ; *Imagination ; *Selection, Genetic ; }, abstract = {Mendel is credited for discovering Laws of Heredity, but his work has come under criticism on three grounds: for possible falsification of data to fit his expectations, for getting undue credit for the laws of heredity without having ideas of segregation and independent assortment, and for being interested in the development of hybrids rather than in the laws of heredity. I present a brief review of these criticisms and conclude that Mendel deserved to be called the father of genetics even if he may not, and most likely did not, have clear ideas of segregation and particulate determiners as we know them now. I argue that neither Mendel understood the evolutionary significance of his findings for the problem of genetic variation, nor would Darwin have understood their significance had he read Mendel's paper. I argue that the limits to imagination, in both cases, came from their mental framework being shaped by existing paradigms-blending inheritance in the case of Darwin, hybrid development in the case of Mendel. Like Einstein, Darwin's natural selection was deterministic; like Niels Bohr, Mendel's Laws were probabilistic-based on random segregation of trait-determining &quot;factors&quot;. Unlike Einstein who understood quantum mechanics, Darwin would have been at a loss with Mendel's paper with no guide to turn to. Geniuses in their imaginations are like heat-seeking missiles locked-in with their targets of deep interests and they generally see things in one dimension only. Imagination has limits; unaided imagination is like a bird without wings--it goes nowhere.}, }
@article {pmid26372579, year = {2015}, author = {Komaroff, AL}, title = {Modern Biological Research, Medical Practice, and Human Knowledge.}, journal = {JAMA}, volume = {314}, number = {11}, pages = {1133-1135}, doi = {10.1001/jama.2015.10893}, pmid = {26372579}, issn = {1538-3598}, mesh = {Biological Phenomena/*physiology ; Biomedical Research/*trends ; DNA/ultrastructure ; Genome, Human ; History, 20th Century ; Humans ; *Knowledge ; Molecular Biology/history/trends ; Physiological Phenomena ; }, }
@article {pmid26372574, year = {2015}, author = {Disis, ML}, title = {The Lasker Awards--Recognizing and Highlighting Oncology Research.}, journal = {JAMA}, volume = {314}, number = {11}, pages = {1123-1124}, doi = {10.1001/jama.2015.10964}, pmid = {26372574}, issn = {1538-3598}, mesh = {*Awards and Prizes ; Biomedical Research/*history/trends ; Forecasting ; Genomics/history ; History, 20th Century ; Humans ; Medical Oncology/*history/trends ; Neoplasms/diagnosis/*history/therapy ; }, }
@article {pmid26359977, year = {2015}, author = {Elledge, SJ}, title = {Accidents and Damage Control.}, journal = {Cell}, volume = {162}, number = {6}, pages = {1196-1200}, doi = {10.1016/j.cell.2015.08.042}, pmid = {26359977}, issn = {1097-4172}, mesh = {Biochemistry/*history ; Cloning, Molecular ; *DNA Repair ; DNA Replication ; Eukaryota/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Rec A Recombinases/chemistry/genetics ; Ribonucleotide Reductases/chemistry/*genetics/metabolism ; Sequence Analysis, Protein ; United States ; Yeasts/classification/genetics/*metabolism/radiation effects ; }, }
@article {pmid26359976, year = {2015}, author = {Witkin, E}, title = {Beginner's Luck.}, journal = {Cell}, volume = {162}, number = {6}, pages = {1192-1195}, doi = {10.1016/j.cell.2015.08.048}, pmid = {26359976}, issn = {1097-4172}, mesh = {Education, Graduate ; Escherichia coli/cytology/*genetics/growth &amp; development/*radiation effects ; Genetics, Microbial/*history ; History, 20th Century ; Microbial Viability/radiation effects ; New York ; }, }
@article {pmid26353441, year = {2015}, author = {Bod, R}, title = {A Comparative Framework for Studying the Histories of the Humanities and Science.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {106}, number = {2}, pages = {367-377}, doi = {10.1086/681979}, pmid = {26353441}, issn = {0021-1753}, mesh = {Computers ; History, 20th Century ; Humanities/history ; Informatics/*history ; Linguistics/*history ; Molecular Biology/*history ; Philology/*history ; Science/history ; }, abstract = {While the humanities and the sciences have a closely connected history, there are no general histories that bring the two fields together on an equal footing. This paper argues that there is a level at which some humanistic and scientific disciplines can be brought under a common denominator and compared. This is at the level of underlying methods, especially at the level of formalisms and rule systems used by different disciplines. The essay formally compares linguistics and computer science by noting that the same grammar formalism was used in the 1950s for describing both human and. programming languages. Additionally, it examines the influence of philology on molecular biology, and vice versa, by recognizing that the tree-formalism and rule system used for text reconstruction was also employed in DNA genetics. It also shows that rule systems for source criticism in history are used in forensic science, evidence-based medicine, and jurisprudence. This paper thus opens up a new comparative approach within which the histories of the humanities and the sciences can be examined on a common level.}, }
@article {pmid26348215, year = {2015}, author = {Jasin, M}, title = {Accolades for the DNA Damage Response.}, journal = {The New England journal of medicine}, volume = {373}, number = {16}, pages = {1492-1495}, doi = {10.1056/NEJMp1509698}, pmid = {26348215}, issn = {1533-4406}, mesh = {*Awards and Prizes ; Bacteria/genetics ; Bacteriology/history ; Biomedical Research/history ; DNA Damage/*physiology ; DNA Repair/*physiology ; Eukaryota/genetics ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; United States ; }, }
@article {pmid26345423, year = {2015}, author = {Jackson, S}, title = {Evelyn Witkin and Stephen Elledge share the 2015 Lasker Basic Medical Award.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {10}, pages = {3727-3731}, pmid = {26345423}, issn = {1558-8238}, mesh = {Ataxia Telangiectasia/genetics ; *Awards and Prizes ; Bacterial Proteins/physiology ; DNA Damage ; DNA Repair/*genetics ; DNA Repair Enzymes/physiology ; Escherichia coli/genetics/radiation effects ; Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Humans ; Protein Kinases/physiology ; Radiation Tolerance/genetics ; SOS Response, Genetics/genetics ; Saccharomyces cerevisiae/genetics/radiation effects ; Saccharomyces cerevisiae Proteins/physiology ; Ultraviolet Rays ; United States ; }, }
@article {pmid26336949, year = {2015}, author = {Horch, RE}, title = {In Memoriam: Professor Laurentiu M. Popescu (1944-2015).}, journal = {Journal of cellular and molecular medicine}, volume = {19}, number = {9}, pages = {2047-2048}, doi = {10.1111/jcmm.12686}, pmid = {26336949}, issn = {1582-4934}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Medicine/*history ; Romania ; Telocytes/cytology ; }, }
@article {pmid26336948, year = {2015}, author = {Wang, X}, title = {In Memoriam: Laurentiu Mircea Popescu (1944-2015).}, journal = {Journal of cellular and molecular medicine}, volume = {19}, number = {9}, pages = {2045-2046}, doi = {10.1111/jcmm.12688}, pmid = {26336948}, issn = {1582-4934}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Medicine/*history ; Telocytes/metabolism ; }, }
@article {pmid26333393, year = {2015}, author = {Morange, M}, title = {What history tells us XXXVIII. Resurrection of a transient forgotten model of gene action.}, journal = {Journal of biosciences}, volume = {40}, number = {3}, pages = {473-476}, pmid = {26333393}, issn = {0973-7138}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Models, Biological ; Proteins/genetics ; }, }
@article {pmid26317371, year = {2015}, author = {Ehrlich, M}, title = {Development-linked changes in DNA methylation and hydroxymethylation in humans: interview with Dr Melanie Ehrlich.}, journal = {Epigenomics}, volume = {7}, number = {5}, pages = {691-694}, doi = {10.2217/epi.15.44}, pmid = {26317371}, issn = {1750-192X}, mesh = {5-Methylcytosine/*metabolism ; *DNA Methylation ; Epigenesis, Genetic ; Epigenomics/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Methylation ; Neoplasms/*genetics/metabolism ; Organ Specificity ; }, }
@article {pmid26305971, year = {2015}, author = {Viegas, J}, title = {Profile of Xinnian Dong.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {36}, pages = {11144-11145}, pmid = {26305971}, issn = {1091-6490}, mesh = {Arabidopsis/genetics/immunology/microbiology ; Arabidopsis Proteins/genetics/immunology ; China ; Disease Resistance/*genetics ; History, 20th Century ; History, 21st Century ; Host-Pathogen Interactions/immunology ; Molecular Biology/*history ; Plant Diseases/*genetics/microbiology ; Plant Immunity/genetics ; Plant Pathology/*history ; Pseudomonas syringae/immunology/physiology ; United States ; }, }
@article {pmid26281767, year = {2015}, author = {Chadov, BF and Fedorova, NB and Chadova, EV}, title = {Conditional mutations in Drosophila melanogaster: On the occasion of the 150th anniversary of G. Mendel's report in Brünn.}, journal = {Mutation research. Reviews in mutation research}, volume = {765}, number = {}, pages = {40-55}, doi = {10.1016/j.mrrev.2015.06.001}, pmid = {26281767}, issn = {1388-2139}, mesh = {Animals ; Breeding/history/methods ; Chromosomes, Insect ; Drosophila Proteins/*genetics ; Drosophila melanogaster/classification/*genetics ; Epigenesis, Genetic ; Genetics/*history ; History, 19th Century ; Mutation ; Species Specificity ; }, abstract = {The basis for modern genetics was laid by Gregor Mendel. He proposed that traits belonging to the intraspecific variability class be studied. However, individuals of one species possess traits of another class. They are related to intraspecific similarity. Individuals never differ from each other in these traits. By analogy with traits varying within a species and determined by genes, it is conjectured that intraspecific similarity is determined by genes, too. If so, mutations in these genes can be obtained. This paper provides a review of works published in 2000-2014 that: (1) propose breeding methods for detection of mutations in Drosophila melanogaster genes that lead intraspecific similarity; these mutations were called conditional; (2) describe collections of conditional mutations in chromosomes X, 2, and 3 of Drosophila; (3) show unusual features of epigenetic nature in the mutants; and (4) analyze these features of the mutants. Based on the peculiarities of manifestation it is supposed that the recognized conditional mutations occur in genes responsible for intraspecific similarity. The genes presumably belong to the so-called regulatory network of the Drosophila genome. This approach expands the scope of breeding analysis introduced by G. Mendel for heredity studies 150 years ago.}, }
@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 {pmid26280579, year = {2015}, author = {Ginsburg, D}, title = {Introduction of Francis S. Collins.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {9}, pages = {3321-3327}, pmid = {26280579}, issn = {1558-8238}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid26272995, year = {2015}, author = {Ferris, H and Hieb, WF}, title = {Ellsworth C. Dougherty: A Pioneer in the Selection of Caenorhabditis elegans as a Model Organism.}, journal = {Genetics}, volume = {200}, number = {4}, pages = {991-1002}, pmid = {26272995}, issn = {1943-2631}, mesh = {Animals ; Caenorhabditis elegans/*genetics ; Genetics/*history ; History, 20th Century ; *Models, Animal ; United States ; }, abstract = {Ellsworth Dougherty (1921-1965) was a man of impressive intellectual dimensions and interests; in a relatively short career he contributed enormously as researcher and scholar to the biological knowledge base for selection of Caenorhabditis elegans as a model organism in neurobiology, genetics, and molecular biology. He helped guide the choice of strains that were eventually used, and, in particular, he developed the methodology and understanding for the nutrition and axenic culture of nematodes and other organisms. Dougherty insisted upon a concise terminology for culture techniques and coined descriptive neologisms that were justified by their linguistic roots. Among other contributions, he refined the classification system for the Protista.}, }
@article {pmid26271158, year = {2015}, author = {Fellman, J and Parisi, P}, title = {Aldur W. Eriksson 7.1.1927-3.4.2015.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {18}, number = {5}, pages = {619-620}, doi = {10.1017/thg.2015.50}, pmid = {26271158}, issn = {1832-4274}, mesh = {Finland ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Twins/genetics/*history ; }, }
@article {pmid26259256, year = {2015}, author = {Munch-Petersen, B and Gojkovic, Z and Knecht, W}, title = {Jure Piskur (1960 - 2014).}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {42}, number = {5}, pages = {275-277}, doi = {10.1016/j.jgg.2014.11.006}, pmid = {26259256}, issn = {1673-8527}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Slovenia ; }, }
@article {pmid26258186, year = {2015}, author = {Delepelaire, P and Izadi-Pruneyre, N and Delepierre, M and Ghigo, JM and Schwartz, M}, title = {A tribute to Cécile Wandersman.}, journal = {Research in microbiology}, volume = {166}, number = {5}, pages = {393-398}, doi = {10.1016/j.resmic.2015.03.010}, pmid = {26258186}, issn = {1769-7123}, mesh = {Bacteriology/*history ; Bacteriophages/chemistry/genetics ; France ; Genetics, Microbial/*history ; Gram-Negative Bacteria/metabolism ; History, 20th Century ; History, 21st Century ; Type I Secretion Systems ; }, }
@article {pmid26256508, year = {2015}, author = {Björkman, M}, title = {The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.}, journal = {Science in context}, volume = {28}, number = {3}, pages = {489-513}, doi = {10.1017/S0269889715000216}, pmid = {26256508}, issn = {0269-8897}, mesh = {Eugenics/*history ; Genetic Counseling/*history ; Genetics, Medical/history ; History, 20th Century ; Humans ; Sterilization, Reproductive ; Sweden ; }, abstract = {This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of &quot;heredophobia&quot; (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.}, }
@article {pmid26256506, year = {2015}, author = {von Schwerin, A}, title = {Shaping Vulnerable Bodies at the Thin Boundary between Environment and Organism: Skin, DNA Repair, and a Genealogy of DNA Care Strategies.}, journal = {Science in context}, volume = {28}, number = {3}, pages = {427-464}, doi = {10.1017/S0269889715000162}, pmid = {26256506}, issn = {0269-8897}, mesh = {*DNA Repair ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Radiologic Health/*history ; Risk Assessment/history ; Xeroderma Pigmentosum/etiology/*history ; }, abstract = {This paper brings together the history of risk and the history of DNA repair, a biological phenomenon that emerged as a research field in between molecular biology, genetics, and radiation research in the 1960s. The case of xeroderma pigmentosum (XP), an inherited hypersensitivity to UV light and, hence, a disposition to skin cancer will be the starting point to argue that, in the 1970s and 1980s, DNA repair became entangled in the creation of new models of the human body at risk - what is here conceptually referred to as the vulnerability aspect of body history - and new attempts at cancer prevention and enhancement of the body associated with the new flourishing research areas of antimutagenesis and anticarcinogenesis. The aim will be to demonstrate that DNA repair created special attempts at disease prevention: molecular enhancement, seeking to identify means to increase the self-repair abilities of the body at the molecular level. Prevention in this sense meant enhancing the body's ability to cope with the environmental hazards of an already toxic world. This strategy has recently been adopted by the beauty industry, which introduced DNA care as a new target for skin care research and anti-aging formulas.}, }
@article {pmid26256502, year = {2015}, author = {Grote, M and Stadler, M}, title = {Introduction: Surface Histories.}, journal = {Science in context}, volume = {28}, number = {3}, pages = {311-315}, doi = {10.1017/S0269889715000149}, pmid = {26256502}, issn = {0269-8897}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Physics/*history ; Physiology/*history ; Research/*history ; }, }
@article {pmid26238262, year = {2015}, author = {Eppig, JT and Richardson, JE and Kadin, JA and Ringwald, M and Blake, JA and Bult, CJ}, title = {Mouse Genome Informatics (MGI): reflecting on 25 years.}, journal = {Mammalian genome : official journal of the International Mammalian Genome Society}, volume = {26}, number = {7-8}, pages = {272-284}, pmid = {26238262}, issn = {1432-1777}, support = {HG004834/HG/NHGRI NIH HHS/United States ; CA089713/CA/NCI NIH HHS/United States ; HG000330/HG/NHGRI NIH HHS/United States ; R01 GM080646/GM/NIGMS NIH HHS/United States ; P41 HG000330/HG/NHGRI NIH HHS/United States ; R01 CA089713/CA/NCI NIH HHS/United States ; P30 CA034196/CA/NCI NIH HHS/United States ; R24 OD011190/OD/NIH HHS/United States ; R01 HG004834/HG/NHGRI NIH HHS/United States ; GM080646/GM/NIGMS NIH HHS/United States ; HD062499/HD/NICHD NIH HHS/United States ; OD011190/OD/NIH HHS/United States ; P41 HD062499/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Databases, Genetic/*history/supply &amp; distribution ; Disease Models, Animal ; *Genome ; Genomics/*history/methods/trends ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Mutagenesis, Site-Directed ; Phenotype ; Reverse Genetics ; *Software ; }, abstract = {From its inception in 1989, the mission of the Mouse Genome Informatics (MGI) resource remains to integrate genetic, genomic, and biological data about the laboratory mouse to facilitate the study of human health and disease. This mission is ever more feasible as the revolution in genetics knowledge, the ability to sequence genomes, and the ability to specifically manipulate mammalian genomes are now at our fingertips. Through major paradigm shifts in biological research and computer technologies, MGI has adapted and evolved to become an integral part of the larger global bioinformatics infrastructure and honed its ability to provide authoritative reference datasets used and incorporated by many other established bioinformatics resources. Here, we review some of the major changes in research approaches over that last quarter century, how these changes are reflected in the MGI resource you use today, and what may be around the next corner.}, }
@article {pmid26230006, year = {2015}, author = {Karlsson, AH and Lindahl, G and Warner, RD and Hunt, MC}, title = {Professor Kerstin Lundström, Swedish University of Agricultural Sciences, Uppsala, 1946–2015.}, journal = {Meat science}, volume = {107}, number = {}, pages = {109}, doi = {10.1016/j.meatsci.2015.05.001}, pmid = {26230006}, issn = {1873-4138}, mesh = {Food Technology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Sweden ; }, }
@article {pmid26227877, year = {2015}, author = {McNally, E and Patterson, K}, title = {Elizabeth McNally: A Muscular Approach.}, journal = {Circulation research}, volume = {117}, number = {4}, pages = {317-320}, doi = {10.1161/CIRCRESAHA.115.307128}, pmid = {26227877}, issn = {1524-4571}, mesh = {Animals ; *Biomedical Research/history ; Cardiomyopathies/*genetics/history ; Career Choice ; Genetic Markers ; Genetic Predisposition to Disease ; Genetic Variation ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mentors ; Muscular Dystrophies/*genetics/history ; Women, Working ; }, }
@article {pmid26223881, year = {2015}, author = {Dolan, ME and Baldarelli, RM and Bello, SM and Ni, L and McAndrews, MS and Bult, CJ and Kadin, JA and Richardson, JE and Ringwald, M and Eppig, JT and Blake, JA}, title = {Orthology for comparative genomics in the mouse genome database.}, journal = {Mammalian genome : official journal of the International Mammalian Genome Society}, volume = {26}, number = {7-8}, pages = {305-313}, pmid = {26223881}, issn = {1432-1777}, support = {HG000330/HG/NHGRI NIH HHS/United States ; U41 HG002273/HG/NHGRI NIH HHS/United States ; P41 HG000330/HG/NHGRI NIH HHS/United States ; P30 CA034196/CA/NCI NIH HHS/United States ; HG002273/HG/NHGRI NIH HHS/United States ; R01 HG002273/HG/NHGRI NIH HHS/United States ; HD062499/HD/NICHD NIH HHS/United States ; P41 HD062499/HD/NICHD NIH HHS/United States ; P41 HG002273/HG/NHGRI NIH HHS/United States ; }, mesh = {Alleles ; Animals ; Databases, Genetic/*history ; Disease Models, Animal ; *Genome ; Genomics/history/*methods ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Molecular Sequence Annotation ; Phenotype ; Phylogeny ; *Sequence Homology, Amino Acid ; }, abstract = {The mouse genome database (MGD) is the model organism database component of the mouse genome informatics system at The Jackson Laboratory. MGD is the international data resource for the laboratory mouse and facilitates the use of mice in the study of human health and disease. Since its beginnings, MGD has included comparative genomics data with a particular focus on human-mouse orthology, an essential component of the use of mouse as a model organism. Over the past 25 years, novel algorithms and addition of orthologs from other model organisms have enriched comparative genomics in MGD data, extending the use of orthology data to support the laboratory mouse as a model of human biology. Here, we describe current comparative data in MGD and review the history and refinement of orthology representation in this resource.}, }
@article {pmid26216951, year = {2015}, author = {Patel, DJ and Davis, TH}, title = {Profile of Dinshaw J. Patel.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {34}, pages = {10570-10572}, pmid = {26216951}, issn = {1091-6490}, support = {P30 CA008748/CA/NCI NIH HHS/United States ; }, mesh = {Chemistry/history ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; India ; Molecular Biology/*history ; Nucleic Acid Conformation ; RNA/chemistry/*history ; United States ; }, }
@article {pmid26211095, year = {2015}, author = {Nau, JY}, title = {[Bertrand Jordan, molecular biologist and the Gospel of John].}, journal = {Revue medicale suisse}, volume = {11}, number = {478}, pages = {1318-1319}, pmid = {26211095}, issn = {1660-9379}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; Precision Medicine ; Switzerland ; *Textbooks as Topic ; }, }
@article {pmid26209888, year = {2015}, author = {Fisher, S}, title = {Not just &quot;a clever way to detect whether DNA really made RNA&quot;: The invention of DNA-RNA hybridization and its outcome.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {53}, number = {}, pages = {40-52}, doi = {10.1016/j.shpsc.2015.07.002}, pmid = {26209888}, issn = {1879-2499}, mesh = {History, 20th Century ; Illinois ; Molecular Biology/*history/methods ; Nucleic Acid Hybridization/*methods ; }, abstract = {The invention of DNA-RNA hybridization in 1960 by Ben Hall and Sol Spiegelman had a powerful impact on the theory and discourse of molecular biology. Yet, despite its importance, the story of this invention has barely been told. Hybridization allowed biologists to bridge the theoretical realm and the material world of organisms, to correlate a hypothetical concept of biological information transfer with a mechanism capable of making an RNA copy of DNA. During the early 1960s, Spiegelman and coworkers employed hybridization to investigate the origin of RNAs found in cells. They operationally defined messenger RNA and elucidated several aspects of genome organization. For Spiegelman, this was the culmination of his longstanding interest in the mechanism of enzyme/protein synthesis; for Hall, it was the beginning of a successful career in genetics. Other scientists immediately recognized the power of the technique and introduced improvements. In 1965, Gillespie and Spiegelman combined several modifications and described a procedure for hybridization that became standard. Since the 1970s, it has become an essential tool in biology and in biotechnology, and a core component in molecular techniques such as DNA microarrays. Notwithstanding its current success, the inventors' names have disappeared from the literature. This curiosity is discussed.}, }
@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 {pmid26191563, year = {2014}, author = {}, title = {Special issue dedicated to John Loehlin.}, journal = {Behavior genetics}, volume = {44}, number = {6}, pages = {547-695}, pmid = {26191563}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26190636, year = {2015}, author = {Brunori, M}, title = {Half a Century of Hemoglobin's Allostery.}, journal = {Biophysical journal}, volume = {109}, number = {6}, pages = {1077-1079}, pmid = {26190636}, issn = {1542-0086}, mesh = {Allosteric Regulation ; Carbon Monoxide/metabolism ; Hemoglobins/*chemistry/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Molecular ; Molecular Biology/history ; Oxygen/metabolism ; Protein Structure, Tertiary ; }, }
@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 {pmid26181810, year = {2015}, author = {Ptashne, M and Gitschier, J}, title = {Irrepressible: An Interview with Mark Ptashne.}, journal = {PLoS genetics}, volume = {11}, number = {7}, pages = {e1005351}, doi = {10.1371/journal.pgen.1005351}, pmid = {26181810}, issn = {1553-7404}, mesh = {History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid26180852, year = {2015}, author = {Sanmann, JN and McGavran, L and Patil, SR}, title = {In Memoriam: Warren G. Sanger, PhD (October 6, 1945-February 5, 2015).}, journal = {Cancer genetics}, volume = {208}, number = {4}, pages = {105-106}, doi = {10.1016/j.cancergen.2015.03.002}, pmid = {26180852}, issn = {2210-7762}, mesh = {Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid26177732, year = {2015}, author = {Opitz, JM}, title = {An inner god: BEN E. KATZ (1921-2015) as geneticist.}, journal = {American journal of medical genetics. Part A}, volume = {167A}, number = {11}, pages = {2516-2519}, doi = {10.1002/ajmg.a.37216}, pmid = {26177732}, issn = {1552-4833}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26172373, year = {2015}, author = {Perlman, S}, title = {Research Driven by Curiosity: The Journey from Basic Molecular Biology and Virology to Studies of Human Pathogenic Coronaviruses.}, journal = {PLoS pathogens}, volume = {11}, number = {7}, pages = {e1005023}, doi = {10.1371/journal.ppat.1005023}, pmid = {26172373}, issn = {1553-7374}, support = {P01 AI060699/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; *Biomedical Research/history ; *Coronaviridae ; *Coronaviridae Infections ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; }, }
@article {pmid26170444, year = {2015}, author = {Peluffo, AE}, title = {The &quot;Genetic Program&quot;: Behind the Genesis of an Influential Metaphor.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {685-696}, pmid = {26170444}, issn = {1943-2631}, mesh = {Genetics/*history ; Genome ; History, 20th Century ; *Metaphor ; Phenotype ; *Terminology as Topic ; }, abstract = {The metaphor of the &quot;genetic program,&quot; indicating the genome as a set of instructions required to build a phenotype, has been very influential in biology despite various criticisms over the years. This metaphor, first published in 1961, is thought to have been invented independently in two different articles, one by Ernst Mayr and the other by François Jacob and Jacques Monod. Here, after a detailed analysis of what both parties meant by &quot;genetic program,&quot; I show, using unpublished archives, the strong resemblance between the ideas of Mayr and Monod and suggest that their idea of genetic program probably shares a common origin. I explore the possibility that the two men met before 1961 and also exchanged their ideas through common friends and colleagues in the field of molecular biology. Based on unpublished correspondence of Jacob and Monod, I highlight the important events that influenced the preparation of their influential paper, which introduced the concept of the genetic program. Finally, I suggest that the genetic program metaphor may have preceded both papers and that it was probably used informally before 1961.}, }
@article {pmid26170442, year = {2015}, author = {Biggins, S}, title = {Under Tension: Kinetochores and Basic Research.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {681-682}, pmid = {26170442}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Kinetochores ; Societies, Scientific ; Spindle Apparatus ; United States ; }, abstract = {The Genetics Society of America's Edward Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in the solution of significant problems in genetics research. The 2015 winner, Sue Biggins, has made significant contributions to our understanding of how chromosomes attach to the mitotic spindle, a process essential for cell division and frequently impaired in cancer. Among other achievements, Biggins was the first to demonstrate that the Aurora B protein kinase is a key regulator of kinetochore function and that chromatin composition and centromere identity can be regulated by histone proteolysis. In 2010, Biggins and her colleagues were the first to purify kinetochores and, using this system, have already made several groundbreaking discoveries about the function and structure of these crucial components of the segregation machinery.}, }
@article {pmid26170441, year = {2015}, author = {Stark, LA}, title = {Science Translator: An Interview with Louisa Stark.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {679-680}, doi = {10.1534/genetics.115.178459}, pmid = {26170441}, issn = {1943-2631}, support = {//Howard Hughes Medical Institute/United States ; }, mesh = {*Awards and Prizes ; Education, Professional ; Genetics/education/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America's Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. The 2015 awardee, Louisa Stark, has made a major impact on global access to genetics education through her work as director of the University of Utah Genetic Science Learning Center. The Center's Learn.Genetics and Teach.Genetics websites are the most widely used online genetic education resources in the world. In 2014, they were visited by 18 million students, educators, scientists, and members of the public. With over 60 million page views annually, Learn.Genetics is among the most used sites on the Web.}, }
@article {pmid26170440, year = {2015}, author = {Postlethwait, JH}, title = {&quot;Wrecks of Ancient Life&quot;: Genetic Variants Vetted by Natural Selection.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {675-678}, pmid = {26170440}, issn = {1943-2631}, mesh = {Animals ; *Awards and Prizes ; Genetic Variation ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Physical Chromosome Mapping/history ; Selection, Genetic ; Sequence Analysis, DNA/history ; Societies, Scientific ; United States ; Zebrafish/genetics ; }, abstract = {The Genetics Society of America's George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake as a respected academic, administrator, and public servant. The 2015 recipient is John Postlethwait. He has made groundbreaking contributions in developing the zebrafish as a molecular genetic model and in understanding the evolution of new gene functions in vertebrates. He built the first zebrafish genetic map and showed that its genome, along with that of distantly related teleost fish, had been duplicated. Postlethwait played an integral role in the zebrafish genome-sequencing project and elucidated the genomic organization of several fish species. Postlethwait is also honored for his active involvement with the zebrafish community, advocacy for zebrafish as a model system, and commitment to driving the field forward.}, }
@article {pmid26170439, year = {2015}, author = {Henikoff, S}, title = {The Genetic Map Enters Its Second Century.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {671-674}, pmid = {26170439}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Centromere ; Epigenesis, Genetic ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America (GSA) Medal is awarded to an individual for outstanding contributions to the field of genetics in the past 15 years. Recipients of the GSA Medal are recognized for elegant and highly meaningful contributions to modern genetics and exemplify the ingenuity of GSA members. The 2015 recipient is Steven Henikoff, whose achievements include major contributions to Drosophila genetics and epigenetics, Arabidopsis genetics and epigenetics, population and evolutionary genetics, genomic technologies, computational biology, and transcription and chromatin biology. Among these achievements, Henikoff elucidated the mechanism for position-effect variegation, revealed a central role for variant histones in nucleosome assembly at active genes, and provided new insights into genome evolution. He has also developed widely used computational tools for genome and protein analysis and new strategies for mapping chromatin-binding sites.}, }
@article {pmid26170438, year = {2015}, author = {Charlesworth, B}, title = {What Use Is Population Genetics?.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {667-669}, pmid = {26170438}, issn = {1943-2631}, mesh = {Animals ; *Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation.}, }
@article {pmid26152175, year = {2015}, author = {Guénet, JL and Panthier, JJ and Avner, P and Heard, E and Montagutelli, X}, title = {[The legacy of Mary F. Lyon (1925-2014)].}, journal = {Medecine sciences : M/S}, volume = {31}, number = {6-7}, pages = {687-689}, doi = {10.1051/medsci/20153106024}, pmid = {26152175}, issn = {0767-0974}, mesh = {Animals ; England ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; X Chromosome/genetics ; X Chromosome Inactivation ; }, }
@article {pmid26148136, year = {2015}, author = {Kazazian, HH and Paalman, MH and Cutting, GR}, title = {In Memoriam: Richard G.H. Cotton (1940-2015).}, journal = {Human mutation}, volume = {36}, number = {8}, pages = {741-742}, doi = {10.1002/humu.22826}, pmid = {26148136}, issn = {1098-1004}, mesh = {Australia ; Genetics, Medical/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Periodicals as Topic ; }, }
@article {pmid26140447, year = {2015}, author = {Botkin, JR and Belmont, JW and Berg, JS and Berkman, BE and Bombard, Y and Holm, IA and Levy, HP and Ormond, KE and Saal, HM and Spinner, NB and Wilfond, BS and McInerney, JD}, title = {Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.}, journal = {American journal of human genetics}, volume = {97}, number = {1}, pages = {6-21}, pmid = {26140447}, issn = {1537-6605}, support = {P20 HG007249/HG/NHGRI NIH HHS/United States ; U01 HG006487/HG/NHGRI NIH HHS/United States ; UL1 TR001067/TR/NCATS NIH HHS/United States ; }, mesh = {Adolescent ; Child ; Genetic Carrier Screening ; Genetic Testing/*ethics/*legislation &amp; jurisprudence/*trends ; Genetics/*history ; Genomics/ethics/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Informed Consent By Minors/*psychology ; Microarray Analysis/methods/trends ; Pharmacogenetics/methods ; }, abstract = {In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children and adolescents. In the past 20 years, much has changed in the field of genetics, including the development of powerful new technologies, new data from genetic research on children and adolescents, and substantial clinical experience. This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children. These recommendations are relevant to families, clinicians, and investigators. After a brief review of the 1995 statement and major changes in genetic technologies in recent years, this statement offers points to consider on a broad range of test technologies and their applications in clinical medicine and research. Recommendations are also made for record and communication issues in this domain and for professional education.}, }
@article {pmid26138341, year = {2015}, author = {Nicholas, FW and Mäki-Tanila, A}, title = {An important anniversary: 150 years since Mendel's laws of inheritance made their first public appearance.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {4}, pages = {277-280}, doi = {10.1111/jbg.12175}, pmid = {26138341}, issn = {1439-0388}, mesh = {Anniversaries and Special Events ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26135438, year = {2015}, author = {Kutschera, U}, title = {August Weismann: A prescient view of women in evolution.}, journal = {Nature}, volume = {523}, number = {7558}, pages = {35}, doi = {10.1038/523035d}, pmid = {26135438}, issn = {1476-4687}, mesh = {*Biological Evolution ; Female ; Genetics, Medical/history ; History, 19th Century ; Humans ; Male ; }, }
@article {pmid26130551, year = {2015}, author = {Ørstavik, KH}, title = {[Mary Lyon and the hypothesis on X-chromosome inactivation].}, journal = {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke}, volume = {135}, number = {12-13}, pages = {1150-1151}, doi = {10.4045/tidsskr.15.0512}, pmid = {26130551}, issn = {0807-7096}, mesh = {England ; Female ; Genetics/*history ; History, 20th Century ; Humans ; Women ; *X Chromosome Inactivation ; }, }
@article {pmid26126273, year = {2015}, author = {Cobb, M}, title = {Who discovered messenger RNA?.}, journal = {Current biology : CB}, volume = {25}, number = {13}, pages = {R526-32}, doi = {10.1016/j.cub.2015.05.032}, pmid = {26126273}, issn = {1879-0445}, mesh = {*Cooperative Behavior ; Genetics/*history ; History, 20th Century ; Models, Genetic ; RNA, Messenger/*genetics/history ; }, abstract = {The announcement of the discovery of messenger RNA (mRNA) and the cracking of the genetic code took place within weeks of each other in a climax of scientific excitement during the summer of 1961. Although mRNA is of decisive importance to our understanding of gene function, no Nobel Prize was awarded for its discovery. The large number of people involved, the complex nature of the results, and the tortuous path that was taken over half a century ago, all show that simple claims of priority may not reflect how science works.}, }
@article {pmid26122062, year = {2015}, author = {Watts, G}, title = {Ciaran Bernard John Woodman.}, journal = {Lancet (London, England)}, volume = {385}, number = {9986}, pages = {2458}, doi = {10.1016/S0140-6736(15)61130-8}, pmid = {26122062}, issn = {1474-547X}, mesh = {Cancer Vaccines/history ; Epigenomics/history ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Papillomavirus Vaccines/*history ; United Kingdom ; Uterine Cervical Neoplasms/genetics/history/prevention &amp; control ; }, }
@article {pmid26117915, year = {2015}, author = {Kobylianskiĭ, VI}, title = {[ANALYSIS OF F.M.DOSTOEVSKIĬ'S HEALTH, PERSONALITY, AND WORKS FROM THE GENETIC STANDPOINT. PART 1].}, journal = {Klinicheskaia meditsina}, volume = {93}, number = {2}, pages = {24-33}, pmid = {26117915}, issn = {0023-2149}, mesh = {Epilepsy/genetics/*history ; *Famous Persons ; Genetic Predisposition to Disease/*history ; Genetics/*history ; History, 19th Century ; Humans ; *Medicine in Literature ; *Personality ; Russia (Pre-1917) ; }, abstract = {The data on Dostoevsky's epilepsy are ambiguous and often contradictory. It prompted consideration of certain genetic aspects of the writer's pedigree for the clarification of this issue. The phenomenon of Dostoevsky's genius was for the first time contemplated from the standpoint of the contribution of genetic factors to his creative work. It was shown that Dostoevsky's ancestry can not be a source of hereditary predisposition to epilepsy. The available data question the genuine nature of his disease. Characteristic of Dostoevsky's ancestry is the wide occurrence of &quot;creativeness&quot; genes. Their cumulation together with a number of other factors verified in the writer can account for the phenomenon of his genius.}, }
@article {pmid26111842, year = {2015}, author = {Germann, P}, title = {[Constant or break? On the relations between human genetics and eugenics in the Twentieth Century].}, journal = {Therapeutische Umschau. Revue therapeutique}, volume = {72}, number = {7}, pages = {457-462}, doi = {10.1024/0040-5930/a000700}, pmid = {26111842}, issn = {0040-5930}, mesh = {Eugenics/*history ; Genetics, Medical/*history ; Germany ; Goiter/*genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; National Socialism/*history ; Switzerland ; }, abstract = {The history of human genetics has been a neglected topic in history of science and medicine for a long time. Only recently, have medical historians begun to pay more attention to the history of human heredity. An important research question deals with the interconnections between human genetics and eugenics. This paper addresses this question: By focusing on a Swiss case study, the investigation of the heredity of goiter, I will argue that there existed close but also ambiguous relations between heredity research and eugenics in the twentieth century. Studies on human heredity often produced evidence that challenged eugenic aims and ideas. Concurrently, however, these studies fostered visions of genetic improvement of human populations.}, }
@article {pmid26104369, year = {2014}, author = {Kado, CI}, title = {Historical Events That Spawned the Field of Plasmid Biology.}, journal = {Microbiology spectrum}, volume = {2}, number = {5}, pages = {}, doi = {10.1128/microbiolspec.PLAS-0019-2013}, pmid = {26104369}, issn = {2165-0497}, mesh = {Adaptation, Biological ; Biology/*history ; Evolution, Molecular ; *Extrachromosomal Inheritance ; Gene Transfer, Horizontal ; Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Plasmids ; Selection, Genetic ; }, abstract = {This chapter revisits the historical development and outcome of studies focused on the transmissible, extrachromosomal genetic elements called plasmids. Early work on plasmids involved structural and genetic mapping of these molecules, followed by the development of an understanding of how plasmids replicate and segregate during cell division. The intriguing property of plasmid transmission between bacteria and between bacteria and higher cells has received considerable attention. The utilitarian aspects of plasmids are described, including examples of various plasmid vector systems. This chapter also discusses the functional attributes of plasmids needed for their persistence and survival in nature and in man-made environments. The term plasmid biology was first conceived at the Fallen Leaf Lake Conference on Promiscuous Plasmids, 1990, Lake Tahoe, California. The International Society for Plasmid Biology was established in 2004 (www.ISPB.org).}, }
@article {pmid26096544, year = {2016}, author = {Puchta, H}, title = {Breaking DNA in plants: how I almost missed my personal breakthrough.}, journal = {Plant biotechnology journal}, volume = {14}, number = {2}, pages = {437-440}, doi = {10.1111/pbi.12420}, pmid = {26096544}, issn = {1467-7652}, mesh = {Biotechnology ; *DNA Breaks, Double-Stranded ; DNA, Plant/*genetics ; Genome, Plant ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Viroids/genetics ; }, }
@article {pmid26094058, year = {2015}, author = {Tanghe, KB}, title = {Mendel at the sesquicentennial of 'Versuche über Pflanzen-Hybriden' (1865): The root of the biggest legend in the history of science.}, journal = {Endeavour}, volume = {39}, number = {2}, pages = {106-115}, doi = {10.1016/j.endeavour.2015.05.004}, pmid = {26094058}, issn = {1873-1929}, mesh = {Genetics/*history ; History, 19th Century ; Humans ; Male ; Mythology/*psychology ; }, abstract = {In 1965, Mendel was still celebrated as the undisputed founder of genetics. In the ensuing 50 years, scholars questioned and undermined this traditional interpretation of his experiments with hybrid plants, without, however, managing to replace it: at the sesquicentennial of the presentation of his 'Versuche' (1865), the Moravian friar remains, to a vast majority, the heroic Father of genetics or at least some kind of geneticist. This exceptionally inert myth is nourished by ontological intuitions but can only continue to flourish, thanks to a long-standing conceptual void in the historiography of biology. It is merely a symptom of this more fundamental problem.}, }
@article {pmid26090739, year = {2015}, author = {Nelson, NC}, title = {A Knockout Experiment: Disciplinary Divides and Experimental Skill in Animal Behaviour Genetics.}, journal = {Medical history}, volume = {59}, number = {3}, pages = {465-485}, pmid = {26090739}, issn = {2048-8343}, mesh = {Animals ; *Behavior, Animal ; Biomedical Research/*history/standards ; Genetics, Behavioral/*history ; History, 20th Century ; Mice ; Mice, Knockout ; Models, Animal ; Molecular Biology/*history ; Professional Competence ; }, abstract = {In the early 1990s, a set of new techniques for manipulating mouse DNA allowed researchers to 'knock out' specific genes and observe the effects of removing them on a live mouse. In animal behaviour genetics, questions about how to deploy these techniques to study the molecular basis of behaviour became quite controversial, with a number of key methodological issues dissecting the interdisciplinary research field along disciplinary lines. This paper examines debates that took place during the 1990s between a predominately North American group of molecular biologists and animal behaviourists around how to design, conduct, and interpret behavioural knockout experiments. Drawing from and extending Harry Collins's work on how research communities negotiate what counts as a 'well-done experiment,' I argue that the positions practitioners took on questions of experimental skill reflected not only the experimental traditions they were trained in but also their differing ontological and epistemological commitments. Different assumptions about the nature of gene action, eg., were tied to different positions in the knockout mouse debates on how to implement experimental controls. I conclude by showing that examining representations of skill in the context of a community's knowledge commitments sheds light on some of the contradictory ways in which contemporary animal behaviour geneticists talk about their own laboratory work as a highly skilled endeavour that also could be mechanised, as easy to perform and yet difficult to perform well.}, }
@article {pmid26089021, year = {2015}, author = {Self, A and Etienne-Manneville, S}, title = {Alan Hall (1952-2015), an Englishman in New York.}, journal = {The EMBO journal}, volume = {34}, number = {13}, pages = {1735-1736}, doi = {10.15252/embj.201570020}, pmid = {26089021}, issn = {1460-2075}, mesh = {*Biochemistry/history ; Biomedical Research/history ; Emigrants and Immigrants ; History, 20th Century ; History, 21st Century ; Humans ; Interferons/genetics ; *Laboratory Personnel ; *Medical Oncology/history ; Molecular Biology/history ; New York City ; United Kingdom ; }, }
@article {pmid26088923, year = {2015}, author = {Hackam, DJ}, title = {The dawn of the third renaissance in surgery.}, journal = {Surgery}, volume = {158}, number = {2}, pages = {317-322}, doi = {10.1016/j.surg.2015.05.001}, pmid = {26088923}, issn = {1532-7361}, mesh = {Computers/history ; Creativity ; Europe ; General Surgery/*history ; History, 17th Century ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Inventions/history ; Printing/history/instrumentation ; Textbooks as Topic/history ; United States ; }, abstract = {In this presidential address, I will share my belief that our proud and noble field stands at the dawn of a great renaissance. I further believe that this is the third such renaissance that has occurred in surgery. As described herein, the first renaissance in surgery occurred during the 1600s, which involved a transformation in operative care unlike anything that had been seen since Roman times. This first renaissance was triggered by tumultuous world events but was spurred on by the invention of the printing press. The second renaissance occurred during the 1980s and was triggered by the invention of the computer, which is of equal significance to the printing press 240 years earlier. I believe that this third renaissance shares with the earlier renaissances its transformative nature and its reaction to turmoil, both in the medical and nonmedical worlds. This is a renaissance driven by science, by creativity, and by innovation—resources that are never in short supply within our great profession.}, }
@article {pmid26088490, year = {2015}, author = {Snyder, A}, title = {Alexander Rich.}, journal = {Lancet (London, England)}, volume = {385}, number = {9984}, pages = {2248}, doi = {10.1016/S0140-6736(15)61056-X}, pmid = {26088490}, issn = {1474-547X}, mesh = {Biophysics/*history ; History, 20th Century ; History, 21st Century ; Massachusetts ; Molecular Biology/*history ; }, }
@article {pmid26087616, year = {2015}, author = {Shestakov, SV}, title = {[On the 50th Anniversary of the &quot;Genetika&quot;].}, journal = {Genetika}, volume = {51}, number = {4}, pages = {395-396}, pmid = {26087616}, issn = {0016-6758}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Periodicals as Topic/history ; }, }
@article {pmid26086052, year = {2015}, author = {MacIntyre, RJ and Gearhart, JD and Effron, JW and O' Brien, SJ and Fogleman, J}, title = {In Memory of Bruce Wallace: 1920–2015.}, journal = {The Journal of heredity}, volume = {106}, number = {3}, pages = {331-332}, doi = {10.1093/jhered/esv024}, pmid = {26086052}, issn = {1465-7333}, mesh = {Animals ; Drosophila melanogaster/genetics ; Genetics/*history ; Genetics, Population ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26073145, year = {2015}, author = {Gayon, J and Gros, F and Morange, M}, title = {Jacques Monod: fifty years after - foreword.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {369-371}, doi = {10.1016/j.crvi.2015.05.002}, pmid = {26073145}, issn = {1768-3238}, mesh = {Enzymes/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; }, }
@article {pmid26065680, year = {2015}, author = {Gryglewski, G}, title = {[Gregor Gryglewski is Researcher of the Month, June 2015].}, journal = {Wiener klinische Wochenschrift}, volume = {127}, number = {11-12}, pages = {499-500}, doi = {10.1007/s00508-015-0826-3}, pmid = {26065680}, issn = {1613-7671}, mesh = {Austria ; *Awards and Prizes ; Depression/*history ; History, 21st Century ; Molecular Biology/*history ; Molecular Imaging/*history ; Neurosciences/*history ; }, }
@article {pmid26065265, year = {2015}, author = {Broude, N and Frolova, LIu and Rubtsov, PM}, title = {[In memory of Tat'iana Valdimirovna Venkstern].}, journal = {Molekuliarnaia biologiia}, volume = {49}, number = {2}, pages = {366-367}, pmid = {26065265}, issn = {0026-8984}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; Russia ; }, }
@article {pmid26057974, year = {2015}, author = {Zhang, S and Wittig, B}, title = {Alexander Rich 1924-2015.}, journal = {Nature biotechnology}, volume = {33}, number = {6}, pages = {593-598}, pmid = {26057974}, issn = {1546-1696}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid26056161, year = {2015}, author = {Perbal, L}, title = {The case of the gene: Postgenomics between modernity and postmodernity.}, journal = {EMBO reports}, volume = {16}, number = {7}, pages = {777-781}, pmid = {26056161}, issn = {1469-3178}, mesh = {*Genes ; Genetic Research ; *Genetics/history/trends ; *Genomics/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Postmodernism ; }, }
@article {pmid26050426, year = {2015}, author = {Gilgenkrantz, S}, title = {[Jacques Monod: some unpublished pages of his life].}, journal = {Histoire des sciences medicales}, volume = {49}, number = {1}, pages = {41-51}, pmid = {26050426}, issn = {0440-8888}, mesh = {Correspondence as Topic/*history ; *Famous Persons ; France ; History, 20th Century ; Interpersonal Relations/history ; Literature, Modern/*history ; Molecular Biology/*history ; World War II ; }, abstract = {The friendship and affinity of thought between Albert Camus and Jacques Monod were little highlighted in France. A book published in the U.S. in 2013 over the period of the Second World War in France shows their importance. It seemed useful to collect the elements of correspondence and writings reflecting their common concerns,frequent meetings and friendship.}, }
@article {pmid26046976, year = {2015}, author = {Matijašević, Z and Zeiger, E}, title = {Marija Alačević (April 19, 1929-February 25, 2015).}, journal = {Mutation research. Genetic toxicology and environmental mutagenesis}, volume = {784-785}, number = {}, pages = {45-46}, doi = {10.1016/j.mrgentox.2015.03.014}, pmid = {26046976}, issn = {1879-3592}, mesh = {Biotechnology/*history ; Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Humans ; Streptomyces ; Yugoslavia ; }, }
@article {pmid26042238, year = {2015}, author = {Rosbash, M}, title = {Ronald J. Konopka (1947–2015).}, journal = {Cell}, volume = {161}, number = {2}, pages = {187-188}, doi = {10.1016/j.cell.2015.03.038}, pmid = {26042238}, issn = {1097-4172}, mesh = {Animals ; Biology/*history ; *Circadian Rhythm ; Genetics/history ; History, 20th Century ; History, 21st Century ; Huntington Disease/genetics/history ; United States ; }, }
@article {pmid26035858, year = {2015}, author = {Boycott, K and Cifra, A}, title = {Looking for a needle in a haystack--tackling rare diseases: an interview with Kym Boycott.}, journal = {Disease models &amp; mechanisms}, volume = {8}, number = {5}, pages = {417-419}, doi = {10.1242/dmm.020925}, pmid = {26035858}, issn = {1754-8411}, mesh = {Animals ; Canada ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Rare Diseases/*genetics ; }, }
@article {pmid26035802, year = {2015}, author = {Simpson, JL}, title = {Reproducing genetics.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {17}, number = {6}, pages = {512-514}, pmid = {26035802}, issn = {1530-0366}, mesh = {*Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; Obstetrics and Gynecology Department, Hospital ; Prenatal Diagnosis ; *Reproduction/genetics ; }, }
@article {pmid26031601, year = {2016}, author = {Widdig, A and Kessler, MJ and Bercovitch, FB and Berard, JD and Duggleby, C and Nürnberg, P and Rawlins, RG and Sauermann, U and Wang, Q and Krawczak, M and Schmidtke, J}, title = {Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research.}, journal = {American journal of primatology}, volume = {78}, number = {1}, pages = {44-62}, doi = {10.1002/ajp.22424}, pmid = {26031601}, issn = {1098-2345}, support = {P40-RR-01293/RR/NCRR NIH HHS/United States ; P40-RR-03640/RR/NCRR NIH HHS/United States ; RR-712003/RR/NCRR NIH HHS/United States ; RR-72115/RR/NCRR NIH HHS/United States ; }, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Macaca mulatta/*genetics ; Puerto Rico ; }, abstract = {Genetic studies not only contribute substantially to our current understanding of the natural variation in behavior and health in many species, they also provide the basis of numerous in vivo models of human traits. Despite the many challenges posed by the high level of biological and social complexity, a long lifespan and difficult access in the field, genetic studies of primates are particularly rewarding because of the close evolutionary relatedness of these species to humans. The free-ranging rhesus macaque (Macaca mulatta) population on Cayo Santiago (CS), Puerto Rico, provides a unique resource in this respect because several of the abovementioned caveats are of either minor importance there, or lacking altogether, thereby allowing long-term genetic research in a primate population under constant surveillance since 1956. This review summarizes more than 40 years of genetic research carried out on CS, from early blood group typing and the genetic characterization of skeletal material via population-wide paternity testing with DNA fingerprints and short tandem repeats (STRs) to the analysis of the highly polymorphic DQB1 locus within the major histocompatibility complex (MHC). The results of the paternity studies also facilitated subsequent studies of male dominance and other factors influencing male reproductive success, of male reproductive skew, paternal kin bias, and mechanisms of paternal kin recognition. More recently, the CS macaques have been the subjects of functional genetic and gene expression analyses and have played an important role in behavioral and quantitative genetic studies. In addition, the CS colony has been used as a natural model for human adult-onset macular degeneration, glaucoma, and circadian rhythm disorder. Our review finishes off with a discussion of potential future directions of research on CS, including the transition from STRs to single nucleotide polymorphism (SNP) typing and whole genome sequencing.}, }
@article {pmid26031181, year = {2014}, author = {Barahona, A}, title = {[The program of Genetics and radiobiology of the National Commission of Nuclear Energy in Mexico, and the work of Alfonso Leon de Garay].}, journal = {Archives internationales d'histoire des sciences}, volume = {64}, number = {172-173}, pages = {481-495}, pmid = {26031181}, issn = {0003-9810}, mesh = {Advisory Committees/history/organization &amp; administration ; Animals ; Drosophila ; *Genetics/history/organization &amp; administration ; History, 19th Century ; History, 20th Century ; Humans ; Mexico ; *Nuclear Energy ; Radiation Genetics/history/organization &amp; administration ; *Radiobiology/history/organization &amp; administration ; }, }
@article {pmid26013437, year = {2015}, author = {Bock von Wülfingen, B}, title = {Observing temporal order in living processes: on the role of time in embryology on the cell level in the 1870s and post-2000.}, journal = {History and philosophy of the life sciences}, volume = {37}, number = {1}, pages = {87-104}, doi = {10.1007/s40656-014-0054-6}, pmid = {26013437}, issn = {0391-9714}, mesh = {Embryology/*history ; Europe ; Fertilization ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; *Reproduction ; Time Factors ; United States ; }, abstract = {The article analyses the role of time in the visual culture of two phases in embryological research: at the end of the nineteenth century, and in the years around 2000. The first case study involves microscopical cytology, the second reproductive genetics. In the 1870s we observe the first of a series of abstractions in research methodology on conception and development, moving from a method propagated as the observation of the &quot;real&quot; living object to the production of stained and fixated objects that are then aligned in temporal order. This process of abstraction ultimately fosters a dissociation between space and time in the research phenomenon, which after 2000 is problematized and explicitly tackled in embryology. Mass data computing made it possible partially to re-include temporal complexity in reproductive genetics in certain, though not all, fields of reproductive genetics. Here research question, instrument and modelling interact in ways that produce very different temporal relationships. Specifically, this article suggests that the different techniques in the late nineteenth century and around 2000 were employed in order to align the time of the researcher with that of the phenomenon and to economize the researcher's work in interaction with the research material's own temporal challenges.}, }
@article {pmid26013436, year = {2015}, author = {Kampf, A}, title = {Times of danger: embryos, sperm and precarious reproduction ca. 1870s-1910s.}, journal = {History and philosophy of the life sciences}, volume = {37}, number = {1}, pages = {68-86}, doi = {10.1007/s40656-014-0055-5}, pmid = {26013436}, issn = {0391-9714}, mesh = {Embryology/*history ; Eugenics/*history ; Europe ; Female ; Genetics/history ; History, 19th Century ; History, 20th Century ; Humans ; Knowledge ; Male ; *Politics ; *Reproduction ; Spermatozoa/physiology ; }, abstract = {This paper discusses the rise and fall of the theory of paternal transmission, drawing attention to the hitherto underresearched debates about the importance and impact of male-mediated harm to the embryo in reproduction that peaked around the turn of the twentieth century. The focus is on the implications of the twin &quot;great social evils,&quot; syphilis and alcohol, which converged at the time of a general transformation of medicine into experimental science and a concomitant rise in new concepts of heredity. Looking at the way in which the issue of time added to profound changes which were linked to particular visions of society and changes in the politics of gender at the turn of the century, I examine the asymmetrical relationship of sociopolitical and epistemological dimensions of time and reproduction. The paper shows how these debates were positioned within the wider context of eugenics and in relation to concepts of male reproduction that involved fundamental political, social and moral dimensions.}, }
@article {pmid26013314, year = {2015}, author = {Suárez-Díaz Edna,  and García-Deister Vivette, }, title = {That 70s show: regulation, evolution and development beyond molecular genetics.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {4}, pages = {503-524}, doi = {10.1007/s40656-014-0051-9}, pmid = {26013314}, issn = {0391-9714}, mesh = {DNA, Recombinant/history ; Eukaryota/genetics ; *Evolution, Molecular ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {This paper argues that the &quot;long 1970s&quot; (1969-1983) is an important though often overlooked period in the development of a rich landscape in the research of metabolism, development, and evolution. The period is marked by: shrinking public funding of basic science, shifting research agendas in molecular biology, the incorporation of new phenomena and experimental tools from previous biological research at the molecular level, and the development of recombinant DNA techniques. Research was reoriented towards eukaryotic cells and development, and in particular towards &quot;giant&quot; RNA processing and transcription. We will here focus on three different models of developmental regulation published in that period: the two models of eukaryotic genetic regulation at the transcriptional level that were developed by Georgii P. Georgiev on the one hand, and by Roy Britten and Eric Davidson on the other; and the model of genetic sufficiency and evolution of regulatory genes proposed by Emile Zuckerkandl. These three bases illustrate the range of exploratory hypotheses that characterised the challenging landscape of gene regulation in the 1970s, a period that in hindsight can be labelled as transitional, between the biology at the laboratory bench of the preceding period, and the biology of genetic engineering and intensive data-driven research that followed.}, }
@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 {pmid26013197, year = {2015}, author = {Volpone, A}, title = {Chromosomenindividualität or Entmischung? The debate between Paolo Della Valle and Edmund B. Wilson.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {3}, pages = {404-414}, doi = {10.1007/s40656-014-0042-x}, pmid = {26013197}, issn = {0391-9714}, mesh = {Cell Biology/*history ; Chromosomes/*genetics ; Genetics/*history ; History, 20th Century ; Italy ; United States ; }, abstract = {At the beginning of the twentieth century, the Italian cytologist Paolo Della Valle developed a theory of instable chromosomes (teoria dei cromosomi labili). He radically criticized the so-called Sutton-Boveri hypothesis (Martins and Martins, Genetics and Molecular Biology, 22:261-271, 1999), focusing on numerical constancy in the species and individuality. On the basis of bibliographical review and personal observations, he maintained that the chromosomes were neither stable bodies, nor permanent structures, but transitory cellular materials, resulting from the periodical rearrangement of the chromatin during the cell division. German and English-speaking biologists reacted. The paper shows some content of the argumentations used by Thomas H. Montgomery and especially Edmund B. Wilson. The discussion was characterized by the same data which is interpretedby different scholars in different ways. And the point is that no one of them had the decisive test to demonstrate his own point of view. Wilson simply invoked on his behalf a certain 'common sense', defending at least a 'high degree of constancy'. The debate waned along with the reception of Morgan's chromosome theory of heredity, but only the advent of molecular biology definitively stated the nature of chromosomes as permanent structures of the cell.}, }
@article {pmid26013196, year = {2015}, author = {Dröscher, A}, title = {Of germ-plasm and zymoplasm: August Weismann, Carlo Emery and the debate about the transmission of acquired characteristics.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {3}, pages = {394-403}, doi = {10.1007/s40656-014-0046-6}, pmid = {26013196}, issn = {0391-9714}, mesh = {Biological Evolution ; Developmental Biology/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Italy ; }, abstract = {In this essay I discuss the contents and the context of Italian zoologist and entomologist Carlo Emery's discussion of the germ-plasm theory. August Weismann considered him one of his very few creditable supporters, and encouraged him to publish his theoretical reflections. In his Gedanken zur Descendenz- und Vererbungstheorie, which appeared between 1893 and 1903 as a series of five essays in the journal Biologisches Zentralblatt, Emery developed a very personal account, applying the concept of determinants to problems like atavism, sexual dimorphism, speciation, geographical isolation, transmission of characters, and putting forward, as early as 1903, the idea of a genetic program.}, }
@article {pmid26003505, year = {2015}, author = {Gayon, J}, title = {Enzymatic cybernetics: an unpublished work by Jacques Monod.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {398-405}, doi = {10.1016/j.crvi.2015.04.007}, pmid = {26003505}, issn = {1768-3238}, mesh = {Cybernetics/*history ; Enzymes/*physiology ; History, 20th Century ; Humans ; Molecular Biology/*history ; }, abstract = {In 1959, Jacques Monod wrote a manuscript entitled Cybernétique enzymatique [Enzymatic cybernetics]. Never published, this unpublished manuscript presents a synthesis of how Monod interpreted enzymatic adaptation just before the publication of the famous papers of the 1960s on the operon. In addition, Monod offers an example of a philosophy of biology immersed in scientific investigation. Monod's philosophical thoughts are classified into two categories, methodological and ontological. On the methodological side, Monod explicitly hints at his preferences regarding the scientific method in general: hypothetical-deductive method, and use of theoretical models. He also makes heuristic proposals regarding molecular biology: the need to analyse the phenomena in question at the level of individual cells, and the dual aspect of all biological explanation, functional and evolutionary. Ontological issues deal with the notions of information and genetic determinism, &quot;cellular memory&quot;, the irrelevance of the notion of &quot;living matter&quot;, and the usefulness of a cybernetic comprehension of molecular biology.}, }
@article {pmid26002905, year = {2015}, author = {Fogg, CN and Kovats, DE}, title = {Message from the ISCB: 2015 ISCB Accomplishment by a Senior Scientist Award: Cyrus Chothia.}, journal = {Bioinformatics (Oxford, England)}, volume = {31}, number = {13}, pages = {2238-2239}, doi = {10.1093/bioinformatics/btv218}, pmid = {26002905}, issn = {1367-4811}, mesh = {*Awards and Prizes ; *Biomedical Research ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Societies, Scientific ; }, abstract = {UNLABELLED: The International Society for Computational Biology (ISCB; http://www.iscb.org) honors a senior scientist annually for his or her outstanding achievements with the ISCB Accomplishment by a Senior Scientist Award. This award recognizes a leader in the field of computational biology for his or her significant contributions to the community through research, service and education. Cyrus Chothia, an emeritus scientist at the Medical Research Council Laboratory of Molecular Biology and emeritus fellow of Wolfson College at Cambridge University, England, is the 2015 ISCB Accomplishment by a Senior Scientist Award winner.Chothia was selected by the Awards Committee, which is chaired by Dr Bonnie Berger of the Massachusetts Institute of Technology. He will receive his award and deliver a keynote presentation at 2015 Intelligent Systems for Molecular Biology/European Conference on Computational Biology in Dublin, Ireland, in July 2015.<br><br>CONTACT: dkovats@iscb.org.}, }
@article {pmid25993552, year = {2015}, author = {Licinio, J and Wong, ML}, title = {Molecular Psychiatry: Twenty years of progress from bench to clinic.}, journal = {Molecular psychiatry}, volume = {20}, number = {6}, pages = {657}, doi = {10.1038/mp.2015.60}, pmid = {25993552}, issn = {1476-5578}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Mental Disorders/genetics/history/therapy ; *Molecular Biology/history/methods/trends ; Psychiatry/*history/trends ; }, }
@article {pmid25988897, year = {2015}, author = {Fitzgerald, KA}, title = {Paula Pitha-Rowe 1937-2015.}, journal = {Nature immunology}, volume = {16}, number = {6}, pages = {591}, doi = {10.1038/ni.3173}, pmid = {25988897}, issn = {1529-2916}, mesh = {Allergy and Immunology/*history ; Czechoslovakia ; History, 20th Century ; History, 21st Century ; Interferons/genetics/*history/immunology ; Molecular Biology/*history ; United States ; }, }
@article {pmid25972202, year = {2015}, author = {Spang, A}, title = {Anniversary of the discovery of sec mutants by Novick and Schekman.}, journal = {Molecular biology of the cell}, volume = {26}, number = {10}, pages = {1783-1785}, pmid = {25972202}, issn = {1939-4586}, mesh = {History, 20th Century ; Molecular Biology/*history ; Mutation ; Saccharomyces cerevisiae/genetics/metabolism ; Secretory Pathway/*genetics ; }, abstract = {This year marks the 35th anniversary of the isolation of 23 SEC genes. These genes all encode key regulators of the secretory pathway, and much of our knowledge of the secretory pathway is based on this initial discovery. The identification of the SEC genes is a result of combining genetics, biochemistry, and electron microscopy in a very clever way. Scientists have been busy ever since seeking to understand the function and regulation of these genes and to identify further key players in the process. Although most of the machinery acting along the secretory pathway is known and its function generally understood, knowledge of regulation of the pathway under various conditions is still scarce and will keep researchers busy for years to come.}, }
@article {pmid25970935, year = {2015}, author = {Grigoriu, BD}, title = {Theragnostics--a silent revolution.}, journal = {Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi}, volume = {119}, number = {1}, pages = {7-8}, pmid = {25970935}, issn = {0048-7848}, mesh = {Data Collection/history ; Disease/etiology/*history ; *Drug Design ; Europe ; Greece ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Humans ; Italy ; Pathology/history ; *Pharmacogenetics/history ; Philosophy, Medical/*history ; *Precision Medicine/history ; United States ; }, }
@article {pmid25970269, year = {2015}, author = {Sithaldeen, R and Ackermann, RR and Bishop, JM}, title = {Pleistocene aridification cycles shaped the contemporary genetic architecture of Southern African baboons.}, journal = {PloS one}, volume = {10}, number = {5}, pages = {e0123207}, pmid = {25970269}, issn = {1932-6203}, mesh = {Africa, Southern ; Animals ; Biodiversity ; Climate ; DNA, Mitochondrial/*genetics/history ; Female ; *Genetic Speciation ; History, Ancient ; Male ; Papio/classification/*genetics ; Papio ursinus/classification/*genetics ; Phylogeny ; Phylogeography/history ; Temperature ; }, abstract = {Plio-Pleistocene environmental change influenced the evolutionary history of many animal lineages in Africa, highlighting key roles for both climate and tectonics in the evolution of Africa's faunal diversity. Here, we explore diversification in the southern African chacma baboon Papio ursinus sensu lato and reveal a dominant role for increasingly arid landscapes during past glacial cycles in shaping contemporary genetic structure. Recent work on baboons (Papio spp.) supports complex lineage structuring with a dominant pulse of diversification occurring 1-2Ma, and yet the link to palaeoenvironmental change remains largely untested. Phylogeographic reconstruction based on mitochondrial DNA sequence data supports a scenario where chacma baboon populations were likely restricted to refugia during periods of regional cooling and drying through the Late Pleistocene. The two lineages of chacma baboon, ursinus and griseipes, are strongly geographically structured, and demographic reconstruction together with spatial analysis of genetic variation point to possible climate-driven isolating events where baboons may have retreated to more optimum conditions during cooler, drier periods. Our analysis highlights a period of continuous population growth beginning in the Middle to Late Pleistocene in both the ursinus and the PG2 griseipes lineages. All three clades identified in the study then enter a state of declining population size (Nef) through to the Holocene; this is particularly marked in the last 20,000 years, most likely coincident with the Last Glacial Maximum. The pattern recovered here conforms to expectations based on the dynamic regional climate trends in southern Africa through the Pleistocene and provides further support for complex patterns of diversification in the region's biodiversity.}, }
@article {pmid25961092, year = {2015}, author = {Brockman, HE}, title = {Frederick J. de Serres Jr. (1929–2014).}, journal = {Mutation research. Reviews in mutation research}, volume = {763}, number = {}, pages = {321-322}, doi = {10.1016/j.mrrev.2015.01.003}, pmid = {25961092}, issn = {1388-2139}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Mutagenesis ; United States ; }, }
@article {pmid25955337, year = {2014}, author = {Brent, L}, title = {Ray David Owen (1915-2014): geneticist and immunologist. A tribute to a true pioneer.}, journal = {Transplantation}, volume = {98}, number = {12}, pages = {1246-1247}, doi = {10.1097/TP.0000000000000538}, pmid = {25955337}, issn = {1534-6080}, mesh = {Allergy and Immunology/*history ; Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid25953338, year = {2015}, author = {Baldwin, RL and von Hippel, PH}, title = {John Schellman and the birth of protein folding.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {22}, pages = {6776-6777}, pmid = {25953338}, issn = {1091-6490}, support = {R01 GM015792/GM/NIGMS NIH HHS/United States ; }, mesh = {History, 20th Century ; History, 21st Century ; *Protein Folding ; Proteomics/*history ; }, }
@article {pmid25943115, year = {2015}, author = {Brown, JH and Catterall, WA and Conn, PJ and Cull-Candy, SG and Dingledine, R and Harden, TK and Insel, PA and Milligan, G and Traynelis, SF}, title = {The First 50 Years of Molecular Pharmacology.}, journal = {Molecular pharmacology}, volume = {88}, number = {1}, pages = {139-140}, doi = {10.1124/mol.115.099564}, pmid = {25943115}, issn = {1521-0111}, mesh = {Animals ; Drug Delivery Systems ; History, 20th Century ; Humans ; Periodicals as Topic/*trends ; Pharmaceutical Preparations/chemistry ; Pharmacogenetics/*history ; }, abstract = {In this Perspective, former and current editors of Molecular Pharmacology, together with the guest editors for this 50th Anniversary Issue, provide a historical overview of the journal since its founding in 1965. The substantial impact that Molecular Pharmacology has had on the field of pharmacology as well as on biomedical science is discussed, as is the broad scope of the journal. The authors conclude that, true to the original goals for the journal, Molecular Pharmacology today remains an outstanding venue for work that provides a mechanistic understanding of drugs, molecular probes, and their biologic targets.}, }
@article {pmid25939053, year = {2015}, author = {Bodmer, W}, title = {A Mathematician's Odyssey.}, journal = {Annual review of genomics and human genetics}, volume = {16}, number = {}, pages = {1-29}, doi = {10.1146/annurev-genom-090314-045856}, pmid = {25939053}, issn = {1545-293X}, mesh = {Autoimmune Diseases/genetics ; Biostatistics/*history/methods ; Chromosome Mapping ; Genetics, Population/*history/methods ; HLA Antigens/genetics ; History, 20th Century ; History, 21st Century ; Human Genome Project ; Humans ; Mathematics ; Models, Theoretical ; Molecular Biology/history ; Neoplasms/genetics ; Primula/genetics ; United Kingdom ; }, abstract = {In this overview of my research, I have aimed to give the background as to how I came to be involved in my various areas of interest, with an emphasis on the early phases of my career, which largely determined my future directions. I had the enormous good fortune to have worked under two of the most outstanding scientists of the twentieth century, R.A. Fisher and Joshua Lederberg. From mathematics and statistics, I went to population genetics and the early use of computers for modeling and simulation. Molecular biology took me into the laboratory and eventually to somatic cell genetics and human gene mapping. One chance encounter led me into the HLA field and another led me into research on cancer, especially colorectal cancer. On the way, I became a champion of the Human Genome Project and of the need for scientists to help promote the public understanding of science.}, }
@article {pmid25937445, year = {2015}, author = {Ayub, Q and Mezzavilla, M and Pagani, L and Haber, M and Mohyuddin, A and Khaliq, S and Mehdi, SQ and Tyler-Smith, C}, title = {The Kalash genetic isolate: ancient divergence, drift, and selection.}, journal = {American journal of human genetics}, volume = {96}, number = {5}, pages = {775-783}, pmid = {25937445}, issn = {1537-6605}, support = {098051//Wellcome Trust/United Kingdom ; }, mesh = {Asia ; Asian Continental Ancestry Group/genetics ; Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; Demography ; European Continental Ancestry Group/genetics ; *Genetic Drift ; Genetics, Population/*history ; Haplotypes ; History, Ancient ; Humans ; Male ; Pakistan ; Phylogeny ; }, abstract = {The Kalash represent an enigmatic isolated population of Indo-European speakers who have been living for centuries in the Hindu Kush mountain ranges of present-day Pakistan. Previous Y chromosome and mitochondrial DNA markers provided no support for their claimed Greek descent following Alexander III of Macedon's invasion of this region, and analysis of autosomal loci provided evidence of a strong genetic bottleneck. To understand their origins and demography further, we genotyped 23 unrelated Kalash samples on the Illumina HumanOmni2.5M-8 BeadChip and sequenced one male individual at high coverage on an Illumina HiSeq 2000. Comparison with published data from ancient hunter-gatherers and European farmers showed that the Kalash share genetic drift with the Paleolithic Siberian hunter-gatherers and might represent an extremely drifted ancient northern Eurasian population that also contributed to European and Near Eastern ancestry. Since the split from other South Asian populations, the Kalash have maintained a low long-term effective population size (2,319-2,603) and experienced no detectable gene flow from their geographic neighbors in Pakistan or from other extant Eurasian populations. The mean time of divergence between the Kalash and other populations currently residing in this region was estimated to be 11,800 (95% confidence interval = 10,600-12,600) years ago, and thus they represent present-day descendants of some of the earliest migrants into the Indian sub-continent from West Asia.}, }
@article {pmid25931208, year = {2015}, author = {Cassata, F}, title = {&quot;A Cold Spring Harbor in Europe.&quot; EURATOM, UNESCO and the Foundation of EMBO.}, journal = {Journal of the history of biology}, volume = {48}, number = {4}, pages = {539-573}, pmid = {25931208}, issn = {1573-0387}, mesh = {Biological Science Disciplines/*history/organization &amp; administration ; Europe ; History, 20th Century ; Molecular Biology/*history ; Societies, Scientific/*history/organization &amp; administration ; United Nations/history ; }, abstract = {This article explores the problem of the foundation of the European Molecular Biology Organization (EMBO), by reconstructing a broader institutional framework, which includes other international actors--EURATOM, UNESCO and the International Laboratory of Genetics and Biophysics (ILGB) in Naples--and a relevant, but still neglected figure, the Italian geneticist Adriano Buzzati-Traverso (1913-1983). The article considers the tension between centralized and federal models of organization in the field of life sciences not just as an EMBO internal controversy, but rather as a structural issue of European scientific cooperation in fundamental biology in the early 1960s. Along with EMBO, the article analyzes in particular the EURATOM Biology Division Program and the constitution of UNESCO International Cell Research Organization (ICRO). Adriano Buzzati-Traverso, as founder of ILGB and scientific consultant of EURATOM and UNESCO, played a crucial role in the complex negotiation which ultimately led to the foundation of EMBO. A synchronic treatment of ILGB, EURATOM, UNESCO-ICRO and EMBO opens a window on the early 1960s institutional configuration of molecular biology in Europe, showing how it basically incorporated the &quot;Cold Spring Harbor&quot; decentralized model rather than reproducing the &quot;CERN&quot; centralized model.}, }
@article {pmid25926702, year = {2015}, author = {Bloom, K}, title = {Anniversary of the discovery/isolation of the yeast centromere by Clarke and Carbon.}, journal = {Molecular biology of the cell}, volume = {26}, number = {9}, pages = {1575-1577}, pmid = {25926702}, issn = {1939-4586}, support = {R37 GM032238/GM/NIGMS NIH HHS/United States ; }, mesh = {Anniversaries and Special Events ; Centromere/*genetics ; Chromosomes, Fungal/genetics ; DNA, Fungal/genetics/ultrastructure ; Fungal Proteins/physiology ; Genetic Research/history ; History, 20th Century ; Laboratory Personnel ; Saccharomycetales/*genetics ; }, abstract = {The first centromere was isolated 35 years ago by Louise Clarke and John Carbon from budding yeast. They embarked on their journey with rudimentary molecular tools (by today's standards) and little knowledge of the structure of a chromosome, much less the nature of a centromere. Their discovery opened up a new field, as centromeres have now been isolated from fungi and numerous plants and animals, including mammals. Budding yeast and several other fungi have small centromeres with short, well-defined sequences, known as point centromeres, whereas regional centromeres span several kilobases up to megabases and do not seem to have DNA sequence specificity. Centromeres are at the heart of artificial chromosomes, and we have seen the birth of synthetic centromeres in budding and fission yeast and mammals. The diversity in centromeres throughout phylogeny belie conserved functions that are only beginning to be understood.}, }
@article {pmid25912960, year = {2015}, author = {Loison, L}, title = {Why did Jacques Monod make the choice of mechanistic determinism?.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {391-397}, doi = {10.1016/j.crvi.2015.03.008}, pmid = {25912960}, issn = {1768-3238}, mesh = {DNA/*chemistry ; History, 20th Century ; Humans ; Molecular Biology/*history ; Proteins/*chemistry ; }, abstract = {The development of molecular biology placed in the foreground a mechanistic and deterministic conception of the functioning of macromolecules. In this article, I show that this conception was neither obvious, nor necessary. Taking Jacques Monod as a case study, I detail the way he gradually came loose from a statistical understanding of determinism to finally support a mechanistic understanding. The reasons of the choice made by Monod at the beginning of the 1950s can be understood only in the light of the general theoretical schema supported by the concept of mechanistic determinism. This schema articulates three fundamental notions for Monod, namely that of the rigidity of the sequence of the genetic program, that of the intrinsic stability of macromolecules (DNA and proteins), and that of the specificity of molecular interactions.}, }
@article {pmid25908117, year = {2015}, author = {Keller, EF}, title = {Doing justice to allosteric regulation.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {385-390}, doi = {10.1016/j.crvi.2015.03.009}, pmid = {25908117}, issn = {1768-3238}, mesh = {Allosteric Regulation ; DNA/*physiology ; History, 20th Century ; Humans ; Molecular Biology/*history ; Proteins/*chemistry/metabolism ; }, abstract = {Jacques Monod gave us not only our first regulatory system, but also our first smart molecules - i.e., he gave us allosteric proteins. But both of these contributions hung in a certain tension with his primary commitments. In particular, I focus here on the ways in which his ontological commitments constrained his thinking about the power of allostery. Although he wrote that &quot;so far as regulation through allosteric interaction is concerned, everything is possible&quot;, for him, not everything was conceivable. In particular, what was not conceivable was a challenge to the primacy of DNA.}, }
@article {pmid25903461, year = {2015}, author = {Travers, A and Muskhelishvili, G}, title = {DNA structure and function.}, journal = {The FEBS journal}, volume = {282}, number = {12}, pages = {2279-2295}, doi = {10.1111/febs.13307}, pmid = {25903461}, issn = {1742-4658}, support = {MC_U105178783//Medical Research Council/United Kingdom ; }, mesh = {Animals ; Chromatin Assembly and Disassembly ; DNA/*chemistry/metabolism ; DNA, Superhelical/chemistry/metabolism ; Energy Metabolism ; *Genetic Phenomena ; Genetics/*history ; Genome ; History, 20th Century ; History, 21st Century ; Humans ; Nucleic Acid Conformation ; }, abstract = {The proposal of a double-helical structure for DNA over 60 years ago provided an eminently satisfying explanation for the heritability of genetic information. But why is DNA, and not RNA, now the dominant biological information store? We argue that, in addition to its coding function, the ability of DNA, unlike RNA, to adopt a B-DNA structure confers advantages both for information accessibility and for packaging. The information encoded by DNA is both digital - the precise base specifying, for example, amino acid sequences - and analogue. The latter determines the sequence-dependent physicochemical properties of DNA, for example, its stiffness and susceptibility to strand separation. Most importantly, DNA chirality enables the formation of supercoiling under torsional stress. We review recent evidence suggesting that DNA supercoiling, particularly that generated by DNA translocases, is a major driver of gene regulation and patterns of chromosomal gene organization, and in its guise as a promoter of DNA packaging enables DNA to act as an energy store to facilitate the passage of translocating enzymes such as RNA polymerase.}, }
@article {pmid25900809, year = {2015}, author = {Opitz, JM}, title = {Remembered: F. Clarke Fraser.}, journal = {American journal of medical genetics. Part A}, volume = {167A}, number = {10}, pages = {2229-2230}, doi = {10.1002/ajmg.a.37091}, pmid = {25900809}, issn = {1552-4833}, mesh = {Genetic Testing/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid25900095, year = {2015}, author = {Wyatt, C and Bartoszek, EM and Yaksi, E}, title = {Methods for studying the zebrafish brain: past, present and future.}, journal = {The European journal of neuroscience}, volume = {42}, number = {2}, pages = {1746-1763}, doi = {10.1111/ejn.12932}, pmid = {25900095}, issn = {1460-9568}, mesh = {Animals ; Brain/*physiology ; DNA/genetics/metabolism ; Gene Expression Regulation/genetics ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history/methods/trends ; Morpholinos/pharmacology ; Mutagenesis ; *Neurosciences/history/methods/trends ; RNA, Messenger/genetics/metabolism ; Zebrafish/*anatomy &amp; histology ; }, abstract = {The zebrafish (Danio rerio) is one of the most promising new model organisms. The increasing popularity of this amazing small vertebrate is evident from the exponentially growing numbers of research articles, funded projects and new discoveries associated with the use of zebrafish for studying development, brain function, human diseases and screening for new drugs. Thanks to the development of novel technologies, the range of zebrafish research is constantly expanding with new tools synergistically enhancing traditional techniques. In this review we will highlight the past and present techniques which have made, and continue to make, zebrafish an attractive model organism for various fields of biology, with a specific focus on neuroscience.}, }
@article {pmid25898922, year = {2016}, author = {Martinez-Cadenas, C and Blanco-Verea, A and Hernando, B and Busby, GB and Brion, M and Carracedo, A and Salas, A and Capelli, C}, title = {The relationship between surname frequency and Y chromosome variation in Spain.}, journal = {European journal of human genetics : EJHG}, volume = {24}, number = {1}, pages = {120-128}, pmid = {25898922}, issn = {1476-5438}, support = {//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {*Chromosomes, Human, Y ; European Continental Ancestry Group ; Fathers/history ; Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, Medieval ; Humans ; *Inheritance Patterns ; Ireland ; Male ; *Names ; Spain ; United Kingdom ; }, abstract = {In most societies, surnames are passed down from fathers to sons, just like the Y chromosome. It follows that, theoretically, men sharing the same surnames would also be expected to share related Y chromosomes. Previous investigations have explored such relationships, but so far, the only detailed studies that have been conducted are on samples from the British Isles. In order to provide additional insights into the correlation between surnames and Y chromosomes, we focused on the Spanish population by analysing Y chromosomes from 2121 male volunteers representing 37 surnames. The results suggest that the degree of coancestry within Spanish surnames is highly dependent on surname frequency, in overall agreement with British but not Irish surname studies. Furthermore, a reanalysis of comparative data for all three populations showed that Irish surnames have much greater and older surname descent clusters than Spanish and British ones, suggesting that Irish surnames may have considerably earlier origins than Spanish or British ones. Overall, despite closer geographical ties between Ireland and Britain, our analysis points to substantial similarities in surname origin and development between Britain and Spain, while possibly hinting at unique demographic or social events shaping Irish surname foundation and development.}, }
@article {pmid25898280, year = {2015}, author = {Gonsalves, D}, title = {The wayward Hawaiian boy returns home.}, journal = {Annual review of phytopathology}, volume = {53}, number = {}, pages = {1-17}, doi = {10.1146/annurev-phyto-080614-120314}, pmid = {25898280}, issn = {1545-2107}, mesh = {Carica/*genetics/*virology ; Hawaii ; History, 20th Century ; History, 21st Century ; Molecular Biology/history ; Plant Diseases/prevention &amp; control/*virology ; Plant Pathology/*history ; Plants, Genetically Modified/genetics/virology ; United States ; }, abstract = {This chapter represents a travelog of my life and career and the philosophical points I acquired along the way. I was born on a sugar plantation on the island of Hawaii and early on had a stuttering problem. I attended the Kamehameha Schools and received my BS and MS degrees from the University of Hawaii and my Ph.D. from the University of California at Davis. I link my life and career to various principles and events, some of which are: the importance of positioning oneself; going for the big enchilada; music, the international language; the red zone of biotechnology; the human side of biotechnology; the transgenic papaya story; and my leadership time at USDA in Hawaii. The guiding light throughout my career were the words from Drs. Eduardo Trujillo and Robert Shepherd, respectively, &quot;Dennis, don't just be a test tube scientist, do something to help people&quot; and &quot;Now tell me, what have you really accomplished?&quot;}, }
@article {pmid25890787, year = {2015}, author = {Morange, M}, title = {Monod and the spirit of molecular biology.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {380-384}, doi = {10.1016/j.crvi.2015.03.005}, pmid = {25890787}, issn = {1768-3238}, mesh = {Allosteric Regulation ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, abstract = {The founders of molecular biology shared views on the place of biology within science, as well as on the relations of molecular biology to Darwinism. Jacques Monod was no exception, but the study of his writings is particularly interesting because he expressed his point of view very clearly and pushed the implications of some of his choices further than most of his contemporaries. The spirit of molecular biology is no longer the same as in the 1960s but, interestingly, Monod anticipated some recent evolutions of this discipline.}, }
@article {pmid25877305, year = {2015}, author = {Escaramís, G and Docampo, E and Rabionet, R}, title = {A decade of structural variants: description, history and methods to detect structural variation.}, journal = {Briefings in functional genomics}, volume = {14}, number = {5}, pages = {305-314}, doi = {10.1093/bfgp/elv014}, pmid = {25877305}, issn = {2041-2657}, mesh = {*Genome, Human ; Genomic Structural Variation/*genetics ; Genomics/*history/*methods ; High-Throughput Nucleotide Sequencing/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Sequence Analysis, DNA/*methods ; }, abstract = {In the past decade, the view on genomic structural variation (SV) has been changed completely. SVs, previously considered rare events, are now recognized as the largest source of interindividual genetic variation affecting more bases than single nucleotide polymorphisms, variable number of tandem repeats and other small genetic variants. They have also been shown to play a role in phenotypic variation and in disease. In this review, the authors will provide an introduction to SV; a short historical perspective on the research of this source of genomic variation; a description of the types of structural variants, and on how they may have arisen; and an overview on methods of detecting structural variants, focusing on the analysis of high-throughput sequencing data.}, }
@article {pmid25874212, year = {2015}, author = {Durmaz, AA and Karaca, E and Demkow, U and Toruner, G and Schoumans, J and Cogulu, O}, title = {Evolution of genetic techniques: past, present, and beyond.}, journal = {BioMed research international}, volume = {2015}, number = {}, pages = {461524}, pmid = {25874212}, issn = {2314-6141}, mesh = {Genetic Techniques/history/*trends ; Genetics/history/*trends ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given.}, }
@article {pmid25873146, year = {2015}, author = {Larmuseau, MH and Boon, N and Vanderheyden, N and Van Geystelen, A and Larmuseau, HF and Matthys, K and De Clercq, W and Decorte, R}, title = {High Y-chromosomal diversity and low relatedness between paternal lineages on a communal scale in the Western European Low Countries during the surname establishment.}, journal = {Heredity}, volume = {115}, number = {1}, pages = {3-12}, pmid = {25873146}, issn = {1365-2540}, mesh = {Belgium ; Chromosomes, Human, Y/*genetics ; Europe ; *Genetic Variation ; Genetics, Population/*history ; Genotype ; History, 15th Century ; History, Medieval ; Humans ; *Names ; Pedigree ; Sequence Analysis, DNA ; }, abstract = {There is limited knowledge on the biological relatedness between citizens and on the demographical dynamics within villages, towns and cities in pre-17th century Western Europe. By combining Y-chromosomal genotypes, in-depth genealogies and surname data in a strict genetic genealogical approach, it is possible to provide insights into the genetic diversity and the relatedness between indigenous paternal lineages within a particular community at the time of the surname adoption. To obtain these insights, six Flemish communities were selected in this study based on the differences in geography and historical development. After rigorous selection of appropriate DNA donors, low relatedness between Y chromosomes of different surnames was found within each community, although there is co-occurrence of these surnames in each community since the start of the surname adoption between the 14th and 15th century. Next, the high communal diversity in Y-chromosomal lineages was comparable with the regional diversity across Flanders at that time. Moreover, clinal distributions of particular Y-chromosomal lineages between the communities were observed according to the clinal distributions earlier observed across the Flemish regions and Western Europe. No significant indication for genetic differences between communities with distinct historical development was found in the analysis. These genetic results provide relevant information for studies in historical sciences, archaeology, forensic genetics and genealogy.}, }
@article {pmid25869676, year = {2015}, author = {Buc, H}, title = {A faith in the coherence of the living world.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {372-379}, doi = {10.1016/j.crvi.2015.03.007}, pmid = {25869676}, issn = {1768-3238}, mesh = {Allosteric Regulation ; Enzymes/*biosynthesis ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, abstract = {In this review, I compare the development of Monod's intellectual leadership in two fields, the regulation of enzyme biosynthesis and the control of enzymatic activity. I characterize the comings and goings between his scrupulous analysis of a given model system, his ability to compare the outcome with very distant experimental results, his audacity in formulating, then a physical interpretation of this convergence through a unifying mechanism. Finally, I briefly discuss how his attitude has durably impacted the whole field of molecular biology.}, }
@article {pmid25866144, year = {2015}, author = {Scrutton, NS}, title = {Professor Richard Nelson Perham.}, journal = {The FEBS journal}, volume = {282}, number = {8}, pages = {1349-1351}, doi = {10.1111/febs.13273}, pmid = {25866144}, issn = {1742-4658}, mesh = {*Editorial Policies ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Periodicals as Topic/*history ; United Kingdom ; }, abstract = {A British molecular biologist who made groundbreaking contributions to the molecular structure, assembly and function of proteins and was Editor-in-Chief of The FEBS Journal (1998-2013).}, }
@article {pmid25857816, year = {2015}, author = {Schwartz, M}, title = {Science and the applications of science from Louis Pasteur to Jacques Monod.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {413-418}, doi = {10.1016/j.crvi.2015.03.006}, pmid = {25857816}, issn = {1768-3238}, mesh = {Academies and Institutes/economics/*history ; Biomedical Research/economics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/*history ; Research Support as Topic/history ; }, abstract = {Jacques Monod's ideas on the applications of science came within the scope of a long tradition at the Institut Pasteur. Louis Pasteur, whose scientific career was characterized by a permanent come and go between science and its applications, long opposed the idea of getting any income from his research, until the financial needs of the Institut Pasteur made him change his mind. As for Jacques Monod, he remained a fervent supporter of basic science during his whole scientific career. However, once he became director of the Institut Pasteur, he realized that the applications of research had to be developed to support the institute from a financial point of view. Thus, he reorganized the valorization of research in the institute, through an incitation of scientists to develop projects with possible applications, and by creating a company, Institut Pasteur Production, for which he had a factory built, and which was in charge of producing and commercializing the vaccines and reagents stemming from the research at the Institut Pasteur.}, }
@article {pmid25857815, year = {2015}, author = {de Chadarevian, S}, title = {Monod as the founder of a new discipline: local and international contexts.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {419-423}, doi = {10.1016/j.crvi.2015.03.003}, pmid = {25857815}, issn = {1768-3238}, mesh = {Academies and Institutes/*history ; Europe ; History, 20th Century ; Humans ; Molecular Biology/*history/organization &amp; administration ; }, abstract = {Monod gained stature as an experimentalist and theorist as well as a discipline builder. The essay reviews the intimate connection of the intellectual and institutional projects in his career. A brief comparison with the development of the new science of molecular biology across the English Channel highlights the commonalities and specificities of the disciplinary projects in France and Britain and the role that individuals like Monod played in their formation. The article argues that there was not a single path that led to the rise of molecular biology. Rather individual initiatives and historical contingencies very much shaped local outcomes.}, }
@article {pmid25857814, year = {2015}, author = {Merlin, F}, title = {Monod's conception of chance: its diversity and relevance today.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {406-412}, doi = {10.1016/j.crvi.2015.03.004}, pmid = {25857814}, issn = {1768-3238}, mesh = {*Biological Evolution ; History, 20th Century ; Humans ; Molecular Biology/*history ; }, abstract = {In his famous book Le hasard et la nécessité (1970), Monod claims that natural evolution is based on the interplay between chance and necessity bringing about adaptive evolutionary change. This article addresses a set of related questions about Monod's conception of chance: what does he mean when he uses the term &quot;chance&quot;? Does he invoke one or many different concepts of chance? What are the implications of his conception about the issue of the deterministic or indeterministic nature of the biological world? Is Monod's view of what chance is relevant in contemporary biology? This paper, structured by these four questions, aims at providing a synthetic study of the way Monod conceptualizes chance, particularly highlighting the metaphysical and epistemological implications of his conception and its value in biology today.}, }
@article {pmid25840726, year = {2015}, author = {Richmond, ML}, title = {A scientist during wartime: Richard Goldschmidt's internment in the U.S.A. during the First World War.}, journal = {Endeavour}, volume = {39}, number = {1}, pages = {52-62}, doi = {10.1016/j.endeavour.2015.02.003}, pmid = {25840726}, issn = {1873-1929}, mesh = {Animals ; Concentration Camps/*history ; Genetics/*history ; History, 20th Century ; Humans ; Male ; Moths ; United States ; World War I ; }, }
@article {pmid25831440, year = {2015}, author = {Ptáček, L and Jackson, S}, title = {Louis Ptáček receives the 2015 ASCI/Stanley J. Korsmeyer Award. Interview by Sarah Jackson.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {4}, pages = {1369-1370}, pmid = {25831440}, issn = {1558-8238}, mesh = {*Awards and Prizes ; Biomedical Research/organization &amp; administration ; Channelopathies/*history ; Chronobiology Disorders/*history ; Epilepsy/genetics/history/physiopathology ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; NAV1.4 Voltage-Gated Sodium Channel/deficiency/history ; Neurology/*history ; Paralysis, Hyperkalemic Periodic/genetics/history/physiopathology ; Societies, Scientific ; United States ; }, }
@article {pmid25828902, year = {2015}, author = {Key, JL and Legocki, AB and Weil, JH}, title = {Dr. Leon S. Dure, III (1931-2014).}, journal = {Plant molecular biology}, volume = {88}, number = {1-2}, pages = {1-2}, doi = {10.1007/s11103-015-0306-1}, pmid = {25828902}, issn = {1573-5028}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Plants/genetics ; }, }
@article {pmid25823843, year = {2015}, author = {Wray, NR and Visscher, PM}, title = {Quantitative genetics of disease traits.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {2}, pages = {198-203}, doi = {10.1111/jbg.12153}, pmid = {25823843}, issn = {1439-0388}, mesh = {Animals ; Disease/*genetics ; Genetics/history ; Genomics ; History, 20th Century ; Humans ; *Quantitative Trait Loci ; }, abstract = {John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics.}, }
@article {pmid25823834, year = {2015}, author = {Nicholas, FW and Wade, CM and Ollivier, L and Sölkner, J}, title = {Quantitative genetics, spread of genes and genetic improvement: papers in honour of John James. Introduction.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {2}, pages = {85-88}, doi = {10.1111/jbg.12158}, pmid = {25823834}, issn = {1439-0388}, mesh = {Animal Husbandry ; Animals ; Australia ; *Genetics/history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid25823359, year = {2015}, author = {Fisher, EM and Peters, J}, title = {Mary Frances Lyon (1925–2014).}, journal = {Cell}, volume = {160}, number = {4}, pages = {577-578}, doi = {10.1016/j.cell.2015.01.039}, pmid = {25823359}, issn = {1097-4172}, support = {MC_U142636336//Medical Research Council/United Kingdom ; }, mesh = {Animals ; Epigenomics ; Genetics/*history ; History, 20th Century ; Human Genome Project ; United Kingdom ; *X Chromosome Inactivation ; }, }
@article {pmid25795111, year = {2015}, author = {DeMarini, DM and Waters, MD}, title = {The passing of Frederick J. de Serres Jr.}, journal = {Mutation research. Reviews in mutation research}, volume = {763}, number = {}, pages = {1}, doi = {10.1016/j.mrrev.2015.01.004}, pmid = {25795111}, issn = {1388-2139}, mesh = {Genetics/*history ; Humans ; *Mutagenesis ; }, }
@article {pmid25791585, year = {2015}, author = {Clerget, G and Abel, Y and Rederstorff, M}, title = {Small non-coding RNAs: a quick look in the rearview mirror.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1296}, number = {}, pages = {3-9}, doi = {10.1007/978-1-4939-2547-6_1}, pmid = {25791585}, issn = {1940-6029}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; *Models, Genetic ; RNA, Small Untranslated/*genetics/history ; }, abstract = {The revolution of miRNA discovery, in the early 2000s, shed a new light in the exciting field of small non-coding RNAs. Since then, and owing to outstanding breakthroughs in RNomic techniques, novel small non-coding RNA families have been regularly discovered, e.g., piRNAs, tiRNAs, and many others.In this review, we provide a very succinct historical and functional overview on most prominent small non-coding RNA families.}, }
@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, &quot;The genetic assimilation of the bithorax phenotype&quot;, published in Evolution in 1956.}, }
@article {pmid25779649, year = {2015}, author = {Barlow, D}, title = {Denise Barlow: a career in epigenetics.}, journal = {RNA biology}, volume = {12}, number = {2}, pages = {105-108}, pmid = {25779649}, issn = {1555-8584}, mesh = {Career Choice ; Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Imprinting/*history ; Workforce ; }, }
@article {pmid25778943, year = {2015}, author = {Thiel, C}, title = {Christian Körner.}, journal = {Journal of inherited metabolic disease}, volume = {38}, number = {3}, pages = {589}, doi = {10.1007/s10545-015-9835-7}, pmid = {25778943}, issn = {1573-2665}, mesh = {Germany ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid25761703, year = {2015}, author = {Stenman, G}, title = {In memoriam - Joachim Mark, MD, PhD (1935-2014).}, journal = {Acta oncologica (Stockholm, Sweden)}, volume = {54}, number = {8}, pages = {1242-1243}, doi = {10.3109/0284186X.2015.1016628}, pmid = {25761703}, issn = {1651-226X}, mesh = {Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Medical Oncology/*history ; Pathology, Clinical/*history ; United States ; }, }
@article {pmid25756096, year = {2014}, author = {}, title = {Special issue dedicated to Prof. Michael J. Dunn.}, journal = {Proteomics. Clinical applications}, volume = {8}, number = {7-8}, pages = {473-635}, pmid = {25756096}, issn = {1862-8354}, mesh = {England ; History, 20th Century ; History, 21st Century ; Proteomics/*history ; }, }
@article {pmid25756095, year = {2014}, author = {}, title = {Memorial Issue Dedicated to François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {311-398}, pmid = {25756095}, issn = {1769-7123}, mesh = {France ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; }, }
@article {pmid25754664, year = {2015}, author = {Kaufmann, WK}, title = {A bright quantum of time in the Cleaver Laboratory; a tribute and retrospective.}, journal = {Photochemistry and photobiology}, volume = {91}, number = {2}, pages = {501-504}, doi = {10.1111/php.12384}, pmid = {25754664}, issn = {1751-1097}, mesh = {Cell Cycle/genetics/radiation effects ; Cell Cycle Proteins/genetics/*metabolism ; DNA/genetics/*metabolism ; DNA Damage ; *DNA Repair ; DNA Repair Enzymes/genetics/*metabolism ; Epithelial Cells/*metabolism/pathology/radiation effects ; Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history ; Signal Transduction ; Ultraviolet Rays ; }, }
@article {pmid25754663, year = {2015}, author = {Mitchell, D}, title = {A tribute to the extraordinary career (1964-present) of James Edward Cleaver.}, journal = {Photochemistry and photobiology}, volume = {91}, number = {2}, pages = {450-451}, doi = {10.1111/php.12376}, pmid = {25754663}, issn = {1751-1097}, mesh = {Carcinogenesis/*genetics ; *DNA Repair ; DNA, Neoplasm/*genetics ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Radiation, Ionizing ; United Kingdom ; }, }
@article {pmid25752167, year = {2015}, author = {Watts, G}, title = {Mary Frances Lyon.}, journal = {Lancet (London, England)}, volume = {385}, number = {9970}, pages = {768}, doi = {10.1016/S0140-6736(15)60427-5}, pmid = {25752167}, issn = {1474-547X}, mesh = {England ; Genetics/*history ; History, 20th Century ; History, 21st Century ; *X Chromosome Inactivation ; }, }
@article {pmid25748357, year = {2015}, author = {Valle, D}, title = {2014 Victor A. McKusick Leadership Award.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {374-376}, doi = {10.1016/j.ajhg.2015.02.001}, pmid = {25748357}, issn = {1537-6605}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Leadership ; Societies, Scientific ; }, }
@article {pmid25748356, year = {2015}, author = {McInnes, RR}, title = {2014 Victor A. McKusick Leadership Award introduction: David Valle.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {372-373}, doi = {10.1016/j.ajhg.2015.01.018}, pmid = {25748356}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Leadership ; Schizophrenia/genetics ; Societies, Scientific ; }, }
@article {pmid25748355, year = {2015}, author = {Daly, MJ}, title = {2014 Curt Stern Award: A tryst with genetics.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {369-371}, doi = {10.1016/j.ajhg.2014.12.028}, pmid = {25748355}, issn = {1537-6605}, mesh = {Awards and Prizes ; Genetics, Medical/history ; HapMap Project ; History, 20th Century ; History, 21st Century ; Inflammatory Bowel Diseases/*genetics ; Societies, Scientific ; }, }
@article {pmid25748354, year = {2015}, author = {Palotie, A}, title = {2014 Curt Stern Award introduction: Mark Daly.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {367-368}, doi = {10.1016/j.ajhg.2014.12.018}, pmid = {25748354}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Societies, Medical ; }, }
@article {pmid25748353, year = {2015}, author = {Abecasis, GR}, title = {2014 Curt Stern Award: Adventures in human genetics.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {363-366}, pmid = {25748353}, issn = {1537-6605}, mesh = {Awards and Prizes ; Cardiovascular Diseases/genetics ; Cholesterol, LDL/blood ; Genetic Loci ; Genetics, Medical/history ; *Genome, Human ; History, 21st Century ; Humans ; Societies, Scientific ; }, }
@article {pmid25748352, year = {2015}, author = {Boehnke, M}, title = {2014 Curt Stern Award introduction: Gonçalo Abecasis.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {361-362}, doi = {10.1016/j.ajhg.2014.11.016}, pmid = {25748352}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetic Loci ; Genetics, Medical/*history ; Genotyping Techniques ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; }, }
@article {pmid25748351, year = {2015}, author = {Orkin, SH}, title = {2014 William Allan Award: A hematologist's pursuit of hemoglobin genetics.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {354-360}, pmid = {25748351}, issn = {1537-6605}, mesh = {Anemia, Sickle Cell/genetics ; Awards and Prizes ; Genetic Therapy/methods ; Genetics, Medical/history ; Genome, Human ; Hemoglobins/*genetics ; History, 20th Century ; History, 21st Century ; Humans ; Societies, Scientific ; Thalassemia/genetics ; Transcription Factors/genetics/metabolism ; }, }
@article {pmid25748350, year = {2015}, author = {Kazazian, HH}, title = {2014 William Allan Award introduction: Stuart Orkin.}, journal = {American journal of human genetics}, volume = {96}, number = {3}, pages = {352-353}, doi = {10.1016/j.ajhg.2014.11.018}, pmid = {25748350}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; }, }
@article {pmid25742714, year = {2015}, author = {Casjens, SR and Hendrix, RW}, title = {Bacteriophage lambda: Early pioneer and still relevant.}, journal = {Virology}, volume = {479-480}, number = {}, pages = {310-330}, pmid = {25742714}, issn = {1096-0341}, support = {R01 GM047795/GM/NIGMS NIH HHS/United States ; R01 GM114817/GM/NIGMS NIH HHS/United States ; GM114817/GM/NIGMS NIH HHS/United States ; GM47795/GM/NIGMS NIH HHS/United States ; }, mesh = {Bacteriophage lambda/*genetics/*physiology ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/methods/*trends ; }, abstract = {Molecular genetic research on bacteriophage lambda carried out during its golden age from the mid-1950s to mid-1980s was critically important in the attainment of our current understanding of the sophisticated and complex mechanisms by which the expression of genes is controlled, of DNA virus assembly and of the molecular nature of lysogeny. The development of molecular cloning techniques, ironically instigated largely by phage lambda researchers, allowed many phage workers to switch their efforts to other biological systems. Nonetheless, since that time the ongoing study of lambda and its relatives has continued to give important new insights. In this review we give some relevant early history and describe recent developments in understanding the molecular biology of lambda's life cycle.}, }
@article {pmid25739302, year = {2014}, author = {Goncharova, IuK}, title = {[Method of fixing the heterotic effect--implementation on plants (on the hundredth anniversary of the birth of V.A. Strunnikov)].}, journal = {Ontogenez}, volume = {45}, number = {6}, pages = {442-446}, pmid = {25739302}, issn = {0475-1450}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Hybrid Vigor/*physiology ; Plant Physiological Phenomena/*physiology ; Plants/*genetics ; }, abstract = {The article is devoted to the 100th anniversary of the outstanding world-renown Russian scientist Vladimir Alexandrovich Strunnikov, Academician, Professor, Head of Group of Developmental Cytology and Sex Regulation at Koltzov Institute of Developmental Biology and Head of genetic studies on silkworms in a number ofsericulture institutes in CIS. Laureate of the State Prize of the USSR (1981), Hero of Socialist Labor (1990), awarded the I.I. Mechnikov Gold Medal, Academy of Sciences of the USSR (1981), founder of the theory explaining the origin of heterosis. One of his most significant achievements is the &quot;Methods of Fixing the Heterosis Effect,&quot; which makes it possible to abandon the production of hybrid seed and increase the yield of many crops by 20-50%. Fixing the gene complexes that determine the heterosis effect will become the &quot;springboard&quot; that will allow obtaining even more productive heterotic hybrids on the basis of new-generation varieties. The efficiency of this method in plant objects at the organismal and molecular levels was shown in the All-Russia Research Institute of Rice. A modification of this method reducing its laboriousness and increasing its efficiency was developed.}, }
@article {pmid25708087, year = {2015}, author = {Lamm, E}, title = {Systems Thinking Versus Population Thinking: Genotype Integration and Chromosomal Organization 1930s-1950s.}, journal = {Journal of the history of biology}, volume = {48}, number = {4}, pages = {641-677}, pmid = {25708087}, issn = {1573-0387}, mesh = {Animals ; *Biological Evolution ; *Chromosome Inversion ; Chromosome Structures ; Drosophila/genetics ; Genetics, Population/*history ; Genotype ; History, 20th Century ; Hybrid Vigor ; Mutation ; }, abstract = {This article describes how empirical discoveries in the 1930s-1950s regarding population variation for chromosomal inversions affected Theodosius Dobzhansky and Richard Goldschmidt. A significant fraction of the empirical work I discuss was done by Dobzhansky and his coworkers; Goldschmidt was an astute interpreter, with strong and unusual commitments. I argue that both belong to a mechanistic tradition in genetics, concerned with the effects of chromosomal organization and systems on the inheritance patterns of species. Their different trajectories illustrate how scientists' commitments affect how they interpret new evidence and adjust to it. Dobzhansky was moved to revised views about selection, while Goldschmidt moved his attention to different genetic phenomena. However different, there are significant connections between the two that enrich our understanding of their views. I focus on two: the role of developmental considerations in Dobzhansky's thought and the role of neutrality and drift in Goldschmidt's evolutionary account. Dobzhansky's struggle with chromosomal variation is not solely about competing schools of thought within the selectionist camp, as insightfully articulated by John Beatty, but also a story of competition between selectionist thinking and developmental perspectives. In contraposition, Goldschmidt emphasized the role of low penetrance mutations that spread neutrally and pointed out that drift could result from developmental canalization. This account adds to the dominant story about Goldschmidt's resistance to the splitting of development from genetics, as told by Garland Allen and Michael Dietrich. The story I tell illustrates how developmental thinking and genetic thinking conflicted and influenced researchers with different convictions about the significance of chromosomal organization.}, }
@article {pmid25693553, year = {2015}, author = {Matalová, A and Matalová, E}, title = {Plant genetics: Czech centre marks Mendel anniversary.}, journal = {Nature}, volume = {518}, number = {7539}, pages = {303}, doi = {10.1038/518303e}, pmid = {25693553}, issn = {1476-4687}, mesh = {Anniversaries and Special Events ; Czech Republic ; Genetics/*history ; History, 19th Century ; History, 21st Century ; *Museums ; Plants/*genetics ; }, }
@article {pmid25689367, year = {2015}, author = {Humphery-Smith, I}, title = {The 20th anniversary of proteomics and some of its origins.}, journal = {Proteomics}, volume = {15}, number = {11}, pages = {1773-1776}, doi = {10.1002/pmic.201400582}, pmid = {25689367}, issn = {1615-9861}, mesh = {Anniversaries and Special Events ; Australia ; Bacterial Proteins/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Human Genome Project ; *Mycoplasma/genetics/metabolism ; Mycoplasma capricolum/genetics ; Proteomics/*history/methods/*trends ; }, abstract = {The term &quot;proteome&quot; was first introduced into the scientific literature in July 1995. Almost 20 years ago attempts to characterize the &quot;total protein complement able to be encoded by a given genome&quot; only became possible due to privileged access to what were then the world's most complete sets of genomic data. Today, proteomics has become an important pillar in the fields of disease diagnosis and drug research and development, while also playing a critical role in the much larger field of Healthcare Analytics and Biomarker Discovery and Detection. It is important to note that this industry originated mostly from building blocks in analytical science that predated the term &quot;proteomics&quot; by many decades. However, proteomics, as a discipline, has allowed protein scientists to more favorably compete in the face of highly fashionable Big Science and, more specifically, genomics.}, }
@article {pmid25676246, year = {2015}, author = {Corrales, F and Gil, C and Paradela, A}, title = {Juan Pablo Albar (1953-2014).}, journal = {Proteomics}, volume = {15}, number = {4}, pages = {625-626}, doi = {10.1002/pmic.201570034}, pmid = {25676246}, issn = {1615-9861}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Male ; Proteomics/*history ; Spain ; }, }
@article {pmid25668016, year = {2015}, author = {Smithies, O and Coffman, T}, title = {A conversation with Oliver Smithies.}, journal = {Annual review of physiology}, volume = {77}, number = {}, pages = {1-11}, doi = {10.1146/annurev-physiol-021014-071806}, pmid = {25668016}, issn = {1545-1585}, support = {R01 HL049277/HL/NHLBI NIH HHS/United States ; }, mesh = {Biomedical Research ; Embryonic Stem Cells ; Gene Targeting/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Nobel Prize ; Recombination, Genetic/genetics ; }, abstract = {Professor Oliver Smithies is the Weatherspoon Eminent Distinguished Professor of Pathology and Laboratory Medicine at the University of North Carolina, Chapel Hill. Along with Mario Capecchi and Martin Evans, Oliver was awarded the Nobel Prize in Medicine in Physiology or Medicine in 2007 for his contributions to the development of gene targeting using homologous recombination in embryonic stem cells. This technique has had an immense impact on biomedical research over the past two decades. Professor Smithies has had a long and distinguished career as a researcher and mentor. Here, he provides an entertaining and enlightening discussion of his life in science.}, }
@article {pmid25667980, year = {2015}, author = {, }, title = {International Journal of Molecular Science 2015's Best Paper Award.}, journal = {International journal of molecular sciences}, volume = {16}, number = {2}, pages = {3700-3704}, pmid = {25667980}, issn = {1422-0067}, mesh = {*Awards and Prizes ; History, 21st Century ; Molecular Biology/*history ; Periodicals as Topic ; Publishing/*standards ; Research ; }, }
@article {pmid25652989, year = {2015}, author = {Rastan, S}, title = {Mary F. Lyon (1925-2014).}, journal = {Nature}, volume = {518}, number = {7537}, pages = {36}, doi = {10.1038/518036a}, pmid = {25652989}, issn = {1476-4687}, mesh = {Animals ; Chromosomes, Mammalian/genetics ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Mice ; RNA, Long Noncoding/genetics ; Terminology as Topic ; United Kingdom ; X Chromosome Inactivation/genetics ; }, }
@article {pmid25646295, year = {2015}, author = {Joe, B}, title = {Dr Lewis Kitchener Dahl, the Dahl rats, and the &quot;inconvenient truth&quot; about the genetics of hypertension.}, journal = {Hypertension (Dallas, Tex. : 1979)}, volume = {65}, number = {5}, pages = {963-969}, pmid = {25646295}, issn = {1524-4563}, support = {R01 HL076709/HL/NHLBI NIH HHS/United States ; R01 HL112641/HL/NHLBI NIH HHS/United States ; HL076709/HL/NHLBI NIH HHS/United States ; R01 HL020176/HL/NHLBI NIH HHS/United States ; HL112641/HL/NHLBI NIH HHS/United States ; R37 HL020176/HL/NHLBI NIH HHS/United States ; HL020176/HL/NHLBI NIH HHS/United States ; }, mesh = {Animals ; Biomedical Research/history ; *Disease Models, Animal ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Hypertension/genetics/*history ; Rats ; *Rats, Inbred Dahl ; United States ; }, }
@article {pmid25636689, year = {2015}, author = {Nicoglou, A}, title = {The evolution of phenotypic plasticity: genealogy of a debate in genetics.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {50}, number = {}, pages = {67-76}, doi = {10.1016/j.shpsc.2015.01.003}, pmid = {25636689}, issn = {1879-2499}, mesh = {Adaptation, Physiological ; Biological Evolution ; Genetics/*history ; History, 20th Century ; *Phenotype ; Plant Breeding/*history ; Selection, Genetic ; }, abstract = {The paper describes the context and the origin of a particular debate that concerns the evolution of phenotypic plasticity. In 1965, British biologist A. D. Bradshaw proposed a widely cited model intended to explain the evolution of norms of reaction, based on his studies of plant populations. Bradshaw's model went beyond the notion of the &quot;adaptive norm of reaction&quot; discussed before him by Dobzhansky and Schmalhausen by suggesting that &quot;plasticity&quot;--the ability of a phenotype to be modified by the environment--should be genetically determined. To prove Bradshaw's hypothesis, it became necessary for some authors to identify the pressures exerted by natural selection on phenotypic plasticity in particular traits, and thus to model its evolution. In this paper, I contrast two different views, based on quantitative genetic models, proposed in the mid-1980s: Russell Lande and Sara Via's conception of phenotypic plasticity, which assumes that the evolution of plasticity is linked to the evolution of the plastic trait itself, and Samuel Scheiner and Richard Lyman's view, which assumes that the evolution of plasticity is independent from the evolution of the trait. I show how the origin of this specific debate, and different assumptions about the evolution of phenotypic plasticity, depended on Bradshaw's definition of plasticity and the context of quantitative genetics.}, }
@article {pmid25636171, year = {2015}, author = {Koornneef, M}, title = {Interview with Maarten Koornneef.}, journal = {Trends in plant science}, volume = {20}, number = {3}, pages = {135-136}, doi = {10.1016/j.tplants.2015.01.002}, pmid = {25636171}, issn = {1878-4372}, mesh = {Arabidopsis/*genetics ; Germany ; History, 20th Century ; History, 21st Century ; Lycopersicon esculentum/*genetics ; Molecular Biology/*history ; Netherlands ; Switzerland ; }, }
@article {pmid25632639, year = {2014}, author = {Nau, JY}, title = {[The sad (but somewhat reassuring) excesses of James Watson, Nobel prize recipient 1962].}, journal = {Revue medicale suisse}, volume = {10}, number = {454}, pages = {2390-2391}, pmid = {25632639}, issn = {1660-9379}, mesh = {*Famous Persons ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Nobel Prize ; Personality ; Racism ; United States ; }, }
@article {pmid25630685, year = {2015}, author = {}, title = {Obituary.}, journal = {Birth defects research. Part A, Clinical and molecular teratology}, volume = {103}, number = {1}, pages = {64-65}, doi = {10.1002/bdra.23359}, pmid = {25630685}, issn = {1542-0760}, mesh = {Genetic Counseling/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Teratology/*history ; }, }
@article {pmid25626849, year = {2015}, author = {Hirabayashi, Y}, title = {Memorial address to Dr Tohru Inoue.}, journal = {Journal of applied toxicology : JAT}, volume = {35}, number = {3}, pages = {229}, doi = {10.1002/jat.3101}, pmid = {25626849}, issn = {1099-1263}, mesh = {History, 20th Century ; History, 21st Century ; Japan ; Molecular Biology/*history/organization &amp; administration ; Stem Cell Research/history ; Toxicology/*history/organization &amp; administration ; United States ; }, }
@article {pmid25621339, year = {2014}, author = {Kyriacou, CP}, title = {Alexandre Afranio Peixoto (1963-2013).}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {28}, number = {}, pages = {757-758}, doi = {10.1016/j.meegid.2014.07.019}, pmid = {25621339}, issn = {1567-7257}, mesh = {Brazil ; *Entomology/history ; *Famous Persons ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid25606720, year = {2014}, author = {Calvo-González, E}, title = {On slaves and genes: &quot;origins&quot; and &quot;processes&quot; in genetic studies of the Brazilian population.}, journal = {Historia, ciencias, saude--Manguinhos}, volume = {21}, number = {4}, pages = {1113-1129}, doi = {10.1590/S0104-59702014000400003}, pmid = {25606720}, issn = {1678-4758}, mesh = {Brazil ; *Enslavement/ethnology ; *Genetic Research ; Genetics/history ; *Genetics, Population ; Haplotypes ; Hemoglobin, Sickle/*genetics ; History, 19th Century ; History, 20th Century ; Humans ; Knowledge ; Social Sciences ; }, abstract = {In this article I examine how contemporary geneticists investigating the history and configuration of the Brazilian population engage with other academic disciplines. To do so I use as a case study some articles published by geneticists researching the presence of hemoglobin S variants in Brazil, in which there is a clear pretension to contribute to the analysis of issues such as slavery or Brazil's ethnic identity. By contrasting these studies with contemporary works from history and the social science, the explanatory centrality of &quot;origin&quot; in the genetic studies analyzed is problematized, as is the lack of interaction with the epistemological characteristics of other areas of knowledge.}, }
@article {pmid25599818, year = {2015}, author = {Ragsdale, CS and Edgar, HJ}, title = {Cultural interaction and biological distance in postclassic period Mexico.}, journal = {American journal of physical anthropology}, volume = {157}, number = {1}, pages = {121-133}, doi = {10.1002/ajpa.22701}, pmid = {25599818}, issn = {1096-8644}, mesh = {Anthropology ; Commerce/*history ; Culture ; Female ; Genetic Variation ; Genetics, Population/*history ; History, 15th Century ; History, 16th Century ; History, Medieval ; Human Migration/*history ; Humans ; Indians, Central American/*history ; Male ; Mexico/ethnology ; Population Dynamics ; }, abstract = {Economic, political, and cultural relationships connected virtually every population throughout Mexico during Postclassic period (AD 900-1520). Much of what is known about population interaction in prehistoric Mexico is based on archaeological or ethnohistoric data. What is unclear, especially for the Postclassic period, is how these data correlate with biological population structure. We address this by assessing biological (phenotypic) distances among 28 samples based upon a comparison of dental morphology trait frequencies, which serve as a proxy for genetic variation, from 810 individuals. These distances were compared with models representing geographic and cultural relationships among the same groups. Results of Mantel and partial Mantel matrix correlation tests show that shared migration and trade are correlated with biological distances, but geographic distance is not. Trade and political interaction are also correlated with biological distance when combined in a single matrix. These results indicate that trade and political relationships affected population structure among Postclassic Mexican populations. We suggest that trade likely played a major role in shaping patterns of interaction between populations. This study also shows that the biological distance data support the migration histories described in ethnohistoric sources.}, }
@article {pmid25588299, year = {2014}, author = {Saura, A}, title = {A tale of two papers.}, journal = {Hereditas}, volume = {151}, number = {6}, pages = {119-122}, doi = {10.1111/hrd2.00073}, pmid = {25588299}, issn = {1601-5223}, mesh = {Continental Population Groups/genetics/*history ; Eugenics ; Genetics, Population/history ; *Genome, Human ; History, 20th Century ; Humans ; Periodicals as Topic/*history ; }, abstract = {Two papers published in HEREDITAS between 1921 and 1939 show how the attitude towards race biology changed in the course of the interwar period in the Nordic countries. In the early 1920s race biology was seen to constitute a legitimate science. Ordinary human genetics prevailed, however, over race biology already in the very beginning on the pages of HEREDITAS. Population thinking was introduced into the study of human heredity around the year 1930. It effectively contradicted the concept of the race. Interestingly, HEREDITAS does not carry a single paper on eugenics and sterilization. In 1939 we see a final repudiation of the doctrines on race. Times had changed and the National Socialists had usurped the doctrines of race in Germany.}, }
@article {pmid25586838, year = {2015}, author = {Kirk, EP}, title = {An explosion, a tsunami, a runaway train: half a century of genetics.}, journal = {Journal of paediatrics and child health}, volume = {51}, number = {1}, pages = {3-7}, doi = {10.1111/jpc.12799}, pmid = {25586838}, issn = {1440-1754}, mesh = {Australia ; Europe ; Genetics/*history/trends ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Periodicals as Topic/history ; United States ; }, abstract = {Let's face it. There is no way of writing about the last half century of genetics without getting a little bit excitable. All of the terms in the title of this piece have been used by otherwise level-headed geneticists to describe the pace of change in genetics over the past few years. The thing is--they are right. Genetics is moving faster and faster. Five years ago, few people would have predicted that we would be where we are today. Five years from now, presumably, it will seem like 2015 was some kind of Dark Age when nothing much was happening. So it would be easy to lose perspective on the achievements of the past, or to assume that nothing much was happening in genetics until recently. However, everything that is happening in genetics now rests on the foundations built up over the past century, and particularly the past half century. And through that time, this journal has been a part of that story.}, }
@article {pmid25580492, year = {2014}, author = {Dessen, P and Larsen, CJ and Valent, A and Couturier, J}, title = {[Homage to Alain Bernheim].}, journal = {Bulletin du cancer}, volume = {101}, number = {10}, pages = {906-907}, pmid = {25580492}, issn = {1769-6917}, mesh = {Cytogenetics/*history ; France ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid25574534, year = {2014}, author = {Suárez-Díaz, E}, title = {The long and winding road of molecular data in phylogenetic analysis.}, journal = {Journal of the history of biology}, volume = {47}, number = {3}, pages = {443-478}, pmid = {25574534}, issn = {0022-5010}, mesh = {Classification/*methods ; *Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Phylogeny ; }, abstract = {The use of molecules and reactions as evidence, markers and/or traits for evolutionary processes has a history more than a century long. Molecules have been used in studies of intra-specific variation and studies of similarity among species that do not necessarily result in the analysis of phylogenetic relations. Promoters of the use of molecular data have sustained the need for quantification as the main argument to make use of them. Moreover, quantification has allowed intensive statistical analysis, as a condition and a product of increasing automation. All of these analyses are subject to the methodological anxiety characteristic of a community in search of objectivity (Suárez-Díaz and Anaya-Munoz, Stud Hist Philos Biol Biomed Sci 39:451–458, 2008). It is in this context that scientists compared and evaluated protein and nucleic acid sequence data with other types of molecular data – including immunological, electrophoretic and hybridization data. This paper argues that by looking at longterm historical processes, such as the use of molecular evidence in evolutionary biology, we gain valuable insights into the history of science. In that sense, it accompanies a growing concern among historians for big-pictures of science that incorporate the fruitful historical research on local cases of the last decades.}, }
@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 {pmid25564667, year = {2015}, author = {Viegas, J}, title = {Profile of Brian Charlesworth.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {6}, pages = {1652-1653}, pmid = {25564667}, issn = {1091-6490}, mesh = {*Biological Evolution ; Career Choice ; Genetics/*history ; History, 20th Century ; History, 21st Century ; *Sex ; }, }
@article {pmid25564560, year = {2015}, author = {Siminovitch, L and Worton, R}, title = {A tribute to Margaret W. Thompson.}, journal = {Journal of medical genetics}, volume = {52}, number = {5}, pages = {360}, doi = {10.1136/jmedgenet-2014-102941}, pmid = {25564560}, issn = {1468-6244}, mesh = {Canada ; *Famous Persons ; *Genetics, Medical/history ; History, 20th Century ; Humans ; }, }
@article {pmid25562986, year = {2014}, author = {Nau, JY}, title = {[Lomidine and trisomy 21: stunning awakening of two forgotten scandals].}, journal = {Revue medicale suisse}, volume = {10}, number = {452}, pages = {2294-2295}, pmid = {25562986}, issn = {1660-9379}, mesh = {Africa ; Antiprotozoal Agents/*adverse effects/history ; Colonialism/history ; Down Syndrome/genetics/*history ; Ethics, Medical ; Ethics, Research ; France ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; Internationality/history ; Pentamidine/*adverse effects/history ; }, }
@article {pmid25556180, year = {2015}, author = {Grunstein, M and Bird, A}, title = {Max Birnstiel 1933-2014: Gene pioneer.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {2}, pages = {302-303}, doi = {10.1073/pnas.1423755112}, pmid = {25556180}, issn = {1091-6490}, mesh = {Europe ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid25549891, year = {2015}, author = {Verdin, E and Ott, M}, title = {50 years of protein acetylation: from gene regulation to epigenetics, metabolism and beyond.}, journal = {Nature reviews. Molecular cell biology}, volume = {16}, number = {4}, pages = {258-264}, pmid = {25549891}, issn = {1471-0080}, support = {P30 AI027763/AI/NIAID NIH HHS/United States ; R24 DK085610/DK/NIDDK NIH HHS/United States ; }, mesh = {Acetylation ; *Epigenesis, Genetic ; *Gene Expression Regulation ; Genetics/history ; History, 20th Century ; History, 21st Century ; Models, Biological ; Proteins/*metabolism ; }, abstract = {In 1964, Vincent Allfrey and colleagues reported the identification of histone acetylation and with deep insight proposed a regulatory role for this protein modification in transcription regulation. Subsequently, histone acetyltransferases (HATs), histone deacetylases (HDACs) and acetyl-Lys-binding proteins were identified as transcription regulators, thereby providing compelling evidence for his daring hypothesis. During the past 15 years, reversible protein acetylation and its modifying enzymes have been implicated in many cellular functions beyond transcription regulation. Here, we review the progress accomplished during the past 50 years and discuss the future of protein acetylation.}, }
@article {pmid27348995, year = {2015}, author = {Giorgianni, F and Provenza, A}, title = {[AN ENTRY FOR A &quot;DICTIONARY OF GENETICS&quot; GENERATION AND ASPECTS OF HEREDITY FROM THE PRESOCRATICS TO GALEN: THE MAIN NOTIONS AND THE TECHNICAL TERMINOLOGY].}, journal = {Medicina nei secoli}, volume = {27}, number = {3}, pages = {1111-1157}, pmid = {27348995}, issn = {0394-9001}, mesh = {Female ; Genetics/*history ; Greek World ; *Heredity ; History, Ancient ; Humans ; Male ; *Reproduction ; }, abstract = {This article aims at dealing with the historical development and the terminology of the notion of generation in ancient Greece, taking as well into consideration several aspects of the notion of heredity, for, at present, research in this field lacks a consistent encyclopedic entry on such subjects. The Presocratic - mainly Empedoclean - notions of 'mixing' and 'separation' lurk behind the Hippocratic treatise De genitura/De natura pueri, in which the process of generation is explained through the 'mixing' mechanism of a female semen and a male one. Semen comes from each part of both parents, so it is sound from the sound parts, and unhealthy from the unhealthy parts. It is considered as the &quot;foam of blood&quot; (Diogenes, A 24 DK), gathering itself into a web of blood vessels that bring it to the genital organs. The mixed semen keeps on fixing itself in the womb thanks to pneuma ('breath'), until the embryo takes human shape. Generation is influenced by both the environment (Airs, Waters, Places) and dietetics (On Regimen, I). Male and female are on different levels in CH, since the former is characterized as hot and strong, and the latter is considered as cold and weak; as a consequence of this, the articulation takes longer in the case of a female embryo. On the other hand, the pangenesis and the preformism theory claim for a strong mutual relationship. Sex determination depends from the 'prevalence' of the male or female semen. The generation of twins of different sex depends from such 'prevalence', as well as from the conformation of the womb and its places (right/male, left/female). Both nature (physis) and use (nomos) have a role in the mechanism of inheritance, as the case of the Macrocephalians in Airs Waters Places shows. On the other hand, Plato's Timaeus exemplifies the theory according to which semen derives from the spinal marrow. The structures of the body - bones, flesh, nerves - aim at protecting marrow itself for the sake of maintaining the continuity of the process of generation. For Aristotle, the female provides a specific contribution to generation, that is menstrual blood, the 'material' that will be fashioned into shape by the 'principle of movement' provided in the male semen. Menstrual blood and semen share the same nature, for they are both the ultimate secretion of nutriment, that is the residue of concocted blood. Considering the female as colder that the male, Aristotle develops the concept of the female as privation in relation to the male. The notion of 'prevalence' in its turn provides explanation for similarities between parents and children. The theory of a double semen originating itself in blood comes back again in Galen's treatise On semen, which links together the Hippocratic notion of a bi-sexual semen and the Aristotelian one of a specific female contribution, the menstrual blood, that provides nutrition for the embryo. Furthermore, similarities between sons and mothers are considered in Definitiones medicae as the main proof of the existence of a female semen. Actually the Alexandrian physicians - Herophilus for instance - considered the female sexual organs anatomy as perfectly corresponding to the male one. As a consequence of the synthesis between the Hippocratic and the Aristotelian tradition, Galen's embryological doctrines were very long-lasting in medical thought.}, }
@article {pmid25548947, year = {2014}, author = {Weatherall, DJ}, title = {A journey in science: early lessons from the hemoglobin field.}, journal = {Molecular medicine (Cambridge, Mass.)}, volume = {20}, number = {}, pages = {478-485}, pmid = {25548947}, issn = {1528-3658}, support = {//Wellcome Trust/United Kingdom ; MC_UU_12009/13//Medical Research Council/United Kingdom ; }, mesh = {Hematologic Diseases/*genetics ; Hemoglobins/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Medicine/*history ; Translational Medical Research/trends ; }, abstract = {Real innovations in medicine and science are historic and singular; the stories behind each occurrence are precious. At Molecular Medicine we have established the Anthony Cerami Award in Translational Medicine to document and preserve these histories. The monographs recount the seminal events as told in the voice of the original investigators who provided the crucial early insight. These essays capture the essence of discovery, chronicling the birth of ideas that created new fields of research; and launched trajectories that persisted and ultimately influenced how disease is prevented, diagnosed, and treated. In this volume, the Cerami Award Monograph is by David J Weatherall, Founder, Weatherall Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital. A visionary in the field of hemoglobin, this is the story of Professor Weatherall's scientific journey.}, }
@article {pmid25547001, year = {2014}, author = {Zallen, DT}, title = {The power of partnerships: the Liverpool school of butterfly and medical genetics.}, journal = {British journal for the history of science}, volume = {47}, number = {175 Pt 4}, pages = {677-699}, doi = {10.1017/s0007087414000417}, pmid = {25547001}, issn = {0007-0874}, mesh = {Animals ; Butterflies/*genetics ; England ; Genetics/*history ; Genetics, Medical/history ; History, 20th Century ; Humans ; }, abstract = {From the 1950s to the 1970s, a group of physician-researchers forming the 'Liverpool school' made groundbreaking contributions in such diverse areas as the genetics of Lepidoptera and human medical genetics. The success of this group can be attributed to the several different, but interconnected, research partnerships that Liverpool physician Cyril Clarke established with Philip Sheppard, Victor McKusick at Johns Hopkins University, the Nuffield Foundation, and his wife FCo. Despite its notable successes, among them the discovery of the method to prevent Rhesus haemolytic disease of the newborn, the Liverpool School began to lose prominence in the mid-1970s, just as the field of medical genetics that it had helped pioneer began to grow. This paper explores the role of partnerships in making possible the Liverpool school's scientific and medical achievements, and also in contributing to its decline.}, }
@article {pmid25544980, year = {2014}, author = {Suzuki, A}, title = {Obituary: Dr. Yoshitaka Nagai (1931–2014).}, journal = {Glycoconjugate journal}, volume = {31}, number = {8}, pages = {547-548}, pmid = {25544980}, issn = {1573-4986}, mesh = {Animals ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Japan ; }, }
@article {pmid25544979, year = {2014}, author = {Kawasaki, T}, title = {Obituary: An appreciation of Gilbert G. Ashwell — A pioneer of glycobiology.}, journal = {Glycoconjugate journal}, volume = {31}, number = {8}, pages = {545-546}, pmid = {25544979}, issn = {1573-4986}, mesh = {Animals ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Rabbits ; United States ; }, }
@article {pmid25543071, year = {2015}, author = {Mason, PH and Domínguez D, JF and Winter, B and Grignolio, A}, title = {Hidden in plain view: degeneracy in complex systems.}, journal = {Bio Systems}, volume = {128}, number = {}, pages = {1-8}, doi = {10.1016/j.biosystems.2014.12.003}, pmid = {25543071}, issn = {1872-8324}, mesh = {Allergy and Immunology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; *Models, Theoretical ; *Physical Phenomena ; Terminology as Topic ; }, abstract = {Degeneracy is a word with two meanings. The popular usage of the word denotes deviance and decay. In scientific discourse, degeneracy refers to the idea that different pathways can lead to the same output. In the biological sciences, the concept of degeneracy has been ignored for a few key reasons. Firstly, the word &quot;degenerate&quot; in popular culture has negative, emotionally powerful associations that do not inspire scientists to consider its technical meaning. Secondly, the tendency of searching for single causes of natural and social phenomena means that scientists can overlook the multi-stranded relationships between cause and effect. Thirdly, degeneracy and redundancy are often confused with each other. Degeneracy refers to dissimilar structures that are functionally similar while redundancy refers to identical structures. Degeneracy can give rise to novelty in ways that redundancy cannot. From genetic codes to immunology, vaccinology and brain development, degeneracy is a crucial part of how complex systems maintain their functional integrity. This review article discusses how the scientific concept of degeneracy was imported into genetics from physics and was later introduced to immunology and neuroscience. Using examples of degeneracy in immunology, neuroscience and linguistics, we demonstrate that degeneracy is a useful way of understanding how complex systems function. Reviewing the history and theoretical scope of degeneracy allows its usefulness to be better appreciated, its coherency to be further developed, and its application to be more quickly realized.}, }
@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 {pmid25522149, year = {2014}, author = {Arber, W and Gitschier, J}, title = {The inventiveness of nature: an interview with Werner Arber.}, journal = {PLoS genetics}, volume = {10}, number = {12}, pages = {e1004879}, doi = {10.1371/journal.pgen.1004879}, pmid = {25522149}, issn = {1553-7404}, mesh = {Bacteriophage lambda/physiology ; Escherichia coli/genetics/virology ; Evolution, Molecular ; History, 20th Century ; Molecular Biology/*history ; Switzerland ; United States ; }, }
@article {pmid25521096, year = {2014}, author = {Chisholm, AD}, title = {Deep reads: strands in the history of molecular genetics.}, journal = {PLoS genetics}, volume = {10}, number = {12}, pages = {e1004887}, doi = {10.1371/journal.pgen.1004887}, pmid = {25521096}, issn = {1553-7404}, mesh = {Animals ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid25515361, year = {2014}, author = {Sarkar, S}, title = {Lederberg on bacterial recombination, Haldane, and cold war genetics: an interview.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {2}, pages = {280-288}, doi = {10.1007/s40656-014-0029-7}, pmid = {25515361}, issn = {0391-9714}, mesh = {Biology/*history ; Genome, Bacterial/*genetics ; History, 19th Century ; History, 20th Century ; India ; Molecular Biology/*history ; Recombination, Genetic/*genetics ; United States ; }, abstract = {Joshua Lederberg (1925-2008), was one of the pioneers of molecular genetics perhaps best known for his discovery of genetic recombination in bacteria which earned him a Nobel Prize in 1958 (shared with George Beadle and Edward Tatum). Lederberg's interests were broad including the origin of life, exobiology (a term that he coined) and emerging diseases and artificial intelligence in his, later years. This article contains the transcription of an interview in excerpts, docu- menting the interactions between Lederberg and fellow biologist J.B.S. Haldane wlich lasted from 1946 until Haldane's death in Kolkata (then Calcutta) in 1964.}, }
@article {pmid25515360, year = {2014}, author = {Talcott, S}, title = {Errant life, molecular biology, and biopower: Canguilhem, Jacob, and Foucault.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {2}, pages = {254-279}, doi = {10.1007/s40656-014-0023-0}, pmid = {25515360}, issn = {0391-9714}, mesh = {Biology/*history ; France ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Molecular Biology/*history ; Philosophy/*history ; *Power, Psychological ; Science/*history ; }, abstract = {This paper considers the theoretical circumstances that urged Michel Foucault to analyse modern societies in terms of biopower. Georges Canguilhem's account of the relations between science and the living forms an essential starting point for Foucault's own later explorations, though the challenges posed by the molecular revolution in biology and François Jacob's history of it allowed Foucault to extend and transform Canguilhem's philosophy of error. Using archival research into his 1955-1956 course on &quot;Science and Error,&quot; I show that, for Canguilhem, it is inauthentic to treat a living being as an error, even if living things are capable of making errors in the domain of knowledge. The emergent molecular biology in the 1960s posed a grave challenge, however, since it suggested that individuals could indeed be errors of genetic reproduction. The paper discusses how Canguilhem and Foucault each responded to this by examining, among other texts, their respective reviews of Jacob's The Logic of the Living. For Canguilhem this was an opportunity to reaffirm the creativity of life in the living individual, which is not a thing to be evaluated, but the source of values. For Foucault, drawing on Jacob's work, this was the opportunity to develop a transformed account of valuation by posing biopower as the DNA of society. Despite their disagreements, the paper examines these three authors as different iterations of a historical epistemology attuned to errancy, error, and experimentation.}, }
@article {pmid25515357, year = {2014}, author = {Teicher, A}, title = {Mendel's use of mathematical modelling: ratios, predictions and the appeal to tradition.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {2}, pages = {187-208}, doi = {10.1007/s40656-014-0019-9}, pmid = {25515357}, issn = {0391-9714}, mesh = {*Chimera ; Genetics/*history ; Germany ; History, 19th Century ; *Models, Theoretical ; }, abstract = {The seventh section of Gregor Mendel's famous 1866 paper contained a peculiar mathematical model, which predicted the expected ratios between the number of constant and hybrid types, assuming self-pollination continued throughout further generations. This model was significant for Mendel's argumentation and was perceived as inseparable from his entire theory at the time. A close examination of this model reveals that it has several perplexing aspects which have not yet been systematically scrutinized. The paper analyzes those aspects, dispels some common misconceptions regarding the interpretation of the model, and re-evaluates the role of this model for Mendel himself. In light of the resulting analysis, Mendel's position between nineteenth-century hybridist tradition and twentieth-century population genetics is reassessed, and his sophisticated use of mathematics to legitimize his innovative theory is uncovered.}, }
@article {pmid25494302, year = {2015}, author = {Harrison, SC}, title = {Veritas per structuram.}, journal = {Annual review of biochemistry}, volume = {84}, number = {}, pages = {37-60}, doi = {10.1146/annurev-biochem-060614-033857}, pmid = {25494302}, issn = {1545-4509}, mesh = {Biochemistry/*history ; Crystallography, X-Ray ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Tombusvirus/*chemistry ; United States ; }, abstract = {When I entered graduate school in 1963, the golden age of molecular biology had just begun, and myoglobin was the only protein with a known high-resolution structure. The romance of working out the structure of a virus by X-ray crystallography nonetheless captured both my imagination and the ensuing 15 years of my scientific life, during which &quot;protein crystallography&quot; began to morph into &quot;structural biology.&quot; The course of the research recounted here follows the broader, 50-year trajectory of structural biology, as I could rarely resist opportunities to capitalize on new technologies when they opened some interesting part of biology to three-dimensional rigor. That fascination shows no sign of subsiding.}, }
@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 {pmid25491643, year = {2014}, author = {Lundqvist, U}, title = {Scandinavian mutation research in barley - a historical review.}, journal = {Hereditas}, volume = {151}, number = {6}, pages = {123-131}, doi = {10.1111/hrd2.00077}, pmid = {25491643}, issn = {1601-5223}, mesh = {Breeding/history ; Chromosome Mapping ; DNA, Plant/genetics ; Genetic Variation ; Genetics/*history ; History, 20th Century ; Hordeum/*genetics ; Mutagenesis ; Mutation ; Sweden ; }, abstract = {In 1928, the Swedish geneticists Hermann Nilsson-Ehle and Åke Gustafsson started on their suggestion experiments with induced mutations using the barley crop. In 1953, at the instigation of the Swedish Government, the 'Group for Theoretical and Applied Mutation Research' was established. Its aim was to study basic research problems in order to influence and improve methods for breeding cultivated plants. The research was non-commercial, even if some mutants were of practical importance. The peaks of activities occurred during the 1950s, 1960s and 1970s. Applying X-rays and UV-irradiation very soon the first chlorophyll mutations were obtained followed by the first viable mutations 'Erectoides'. Soon the X-ray experiments expanded with other types of irradiation such as neutrons etc. and finally with chemical mutagens, starting with mustard gas and concluding with the sodium azide. The research brought a wealth of observations of general biological importance, high increased mutation frequencies, difference in the mutation spectrum and to direct mutagenesis for specific genes. A rather large collection of morphological and physiological mutations, about 12 000 different mutant alleles, with a very broad variation were collected and incorporated into the Nordic Genetic Resource Center (NordGen) Sweden. Barley, the main experimental crop has become one of the few higher plants in which biochemical genetics and molecular biological studies are now feasible. The collection is an outstanding material for mapping genes and investigating the barley genome. Several characters have been studied and analyzed in more detail and are presented in this historical review.}, }
@article {pmid25491531, year = {2014}, author = {Heneen, WK}, title = {Kinetochore structure and chromosome orientation: a tribute to Gunnar Östergren.}, journal = {Hereditas}, volume = {151}, number = {6}, pages = {115-118}, doi = {10.1111/hrd2.00076}, pmid = {25491531}, issn = {1601-5223}, mesh = {*Chromosome Segregation ; Chromosomes/*physiology ; Genetics/*history ; History, 20th Century ; Kinetochores/*physiology ; Meiosis ; Mitosis ; Sweden ; }, }
@article {pmid25483343, year = {2015}, author = {Hamilton, SP}, title = {The promise of psychiatric pharmacogenomics.}, journal = {Biological psychiatry}, volume = {77}, number = {1}, pages = {29-35}, doi = {10.1016/j.biopsych.2014.09.009}, pmid = {25483343}, issn = {1873-2402}, mesh = {Genetic Variation ; History, 20th Century ; History, 21st Century ; Humans ; Mental Disorders/*drug therapy/*genetics ; Pharmacogenetics/history/*trends ; Precision Medicine ; Psychotropic Drugs/adverse effects/*therapeutic use ; Treatment Outcome ; }, abstract = {Clinicians already face &quot;personalized&quot; medicine every day while experiencing the great variation in toxicities and drug efficacy among individual patients. Pharmacogenetics studies are the platform for discovering the DNA determinants of variability in drug response and tolerability. Research now focuses on the genome after its beginning with analyses of single genes. Therapeutic outcomes from several psychotropic drugs have been weakly linked to specific genetic variants without independent replication. Drug side effects show stronger associations to genetic variants, including human leukocyte antigen loci with carbamazepine-induced dermatologic outcome and MC4R with atypical antipsychotic weight gain. Clinical implementation has proven challenging, with barriers including a lack of replicable prospective evidence for clinical utility required for altering medical care. More recent studies show promising approaches for reducing these barriers to routine incorporation of pharmacogenetics data into clinical care.}, }
@article {pmid25480947, year = {2014}, author = {Grossbach, U}, title = {In memoriam Jan-Erik Edström (1931-2013).}, journal = {Genetics}, volume = {198}, number = {4}, pages = {1769-1770}, doi = {10.1534/genetics.114.171587}, pmid = {25480947}, issn = {1943-2631}, mesh = {*Famous Persons ; History, 20th Century ; *Molecular Biology/history ; }, }
@article {pmid25475529, year = {2015}, author = {Harris, JR}, title = {Transmission electron microscopy in molecular structural biology: A historical survey.}, journal = {Archives of biochemistry and biophysics}, volume = {581}, number = {}, pages = {3-18}, doi = {10.1016/j.abb.2014.11.011}, pmid = {25475529}, issn = {1096-0384}, mesh = {History, 20th Century ; History, 21st Century ; Microscopy, Electron, Transmission/*history/*methods ; Molecular Biology/*history/*methods ; }, abstract = {In this personal, historic account of macromolecular transmission electron microscopy (TEM), published data from the 1940s through to recent times is surveyed, within the context of the remarkable progress that has been achieved during this time period. The evolution of present day molecular structural biology is described in relation to the associated biological disciplines. The contribution of numerous electron microscope pioneers to the development of the subject is discussed. The principal techniques for TEM specimen preparation, thin sectioning, metal shadowing, negative staining and plunge-freezing (vitrification) of thin aqueous samples are described, with a selection of published images to emphasise the virtues of each method. The development of digital image analysis and 3D reconstruction is described in detail as applied to electron crystallography and reconstructions from helical structures, 2D membrane crystals as well as single particle 3D reconstruction of icosahedral viruses and macromolecules. The on-going development of new software, algorithms and approaches is highlighted before specific examples of the historical progress of the structural biology of proteins and viruses are presented.}, }
@article {pmid25466978, year = {2015}, author = {Dixon, RA}, title = {Interview with Richard A. Dixon.}, journal = {Trends in plant science}, volume = {20}, number = {1}, pages = {1-2}, doi = {10.1016/j.tplants.2014.10.009}, pmid = {25466978}, issn = {1878-4372}, mesh = {Biochemistry/*history ; Biofuels/analysis ; Crops, Agricultural/genetics ; England ; Genetic Engineering/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/history ; Oklahoma ; Plants/*chemistry/*genetics ; Texas ; }, }
@article {pmid25455542, year = {2014}, author = {Amundson, R}, title = {Charles Darwin's reputation: how it changed during the twentieth-century and how it may change again.}, journal = {Endeavour}, volume = {38}, number = {3-4}, pages = {257-267}, doi = {10.1016/j.endeavour.2014.10.009}, pmid = {25455542}, issn = {1873-1929}, mesh = {Animals ; *Biological Evolution ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Natural Science Disciplines/*history ; *Selection, Genetic ; United Kingdom ; }, abstract = {Charles Darwin died in 1882. During the twentieth century his reputation varied through time, as the scientific foundation of evolutionary theory changed. Beginning the century as an intellectual hero, he soon became a virtual footnote as experimental approaches to evolution began to develop. As the Modern Synthesis developed his reputation began to rise again until eventually he was identified as a founding father of the Modern Synthesis itself. In the meantime, developmental approaches to evolution began to challenge certain aspects of the Modern Synthesis. Synthesis authors attempted to refute the relevance of development by methodological arguments, some of them indirectly credited to Darwin. By the end of the century, molecular genetics had given new life to development approaches to evolution, now called evo devo. This must be seen as a refutation of the aforesaid methodological arguments of the Modern Synthesis advocates. By the way, we can also see now how the historiography that credited Darwin with the Synthesis was in error. In conclusion, one more historical revision is suggested.}, }
@article {pmid25448539, year = {2014}, author = {Scheffler, RW}, title = {Following cancer viruses through the laboratory, clinic, and society.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {48 Pt B}, number = {}, pages = {185-188}, doi = {10.1016/j.shpsc.2014.09.004}, pmid = {25448539}, issn = {1879-2499}, mesh = {Biomedical Research/*history ; History, 20th Century ; History, 21st Century ; Humans ; Laboratories/history ; Molecular Biology/history ; Neoplasms/*history/virology ; Science/*history ; Vaccines/history ; *Viruses ; }, abstract = {These essays in this special issue follow cancer viruses as a means of better understanding the history of biomedicine. Spanning the worlds of chronic and infectious disease research, the history of cancer viruses touches upon an enormous diversity of settings and scientific disciplines. Cancer viruses appeared during the twentieth century as vaccine targets, vaccine contaminants, laboratory anomalies, and tools for molecular biology. Rather than picking one discipline or setting to privilege above others, this issue suggests what can be learned, not only about cancer viruses but also about the character of modern biomedicine, from following these viruses through their different historical trajectories.}, }
@article {pmid25447920, year = {2015}, author = {Murgatroyd, C}, title = {Editorial to the Special Issue Historical Medical Genetics II.}, journal = {Gene}, volume = {555}, number = {1}, pages = {1}, doi = {10.1016/j.gene.2014.11.023}, pmid = {25447920}, issn = {1879-0038}, mesh = {Disease/*genetics/*history ; Genetics, Medical/*history ; *History of Medicine ; History, 19th Century ; History, 20th Century ; Medicine in the Arts ; }, }
@article {pmid25438476, year = {2014}, author = {Wennig R,  and Humbel R-L, }, title = {[Historic Development of Clinical Biology Laboratories in Luxembourg].}, journal = {Bulletin de la Societe des sciences medicales du Grand-Duche de Luxembourg}, volume = {}, number = {}, pages = {21-44}, pmid = {25438476}, issn = {0037-9247}, mesh = {Asia ; Biology/*history ; Clinical Laboratory Services/*history ; Europe ; Genetics/history ; Genome, Human ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; History, Medieval ; Humans ; Laboratories/*history ; Luxembourg ; Private Sector/history ; Public Sector/history ; United States ; }, abstract = {After a short overview on the development of diagnostic tools in clinical biology at an international level from Antiquity towards today, a history of the clinical biology including public and private institutions in Luxembourg will be outlined.}, }
@article {pmid25431403, year = {2014}, author = {Morange, M}, title = {What history tells us XXXV. Enhancers: their existence and characteristics have raised puzzling issues since their discovery.}, journal = {Journal of biosciences}, volume = {39}, number = {5}, pages = {741-745}, pmid = {25431403}, issn = {0973-7138}, mesh = {Binding Sites ; Enhancer Elements, Genetic/genetics/*physiology ; Gene Expression Regulation/*physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Models, Genetic ; Transcription Factors/genetics/metabolism/physiology ; }, }
@article {pmid25425662, year = {2014}, author = {Chakravarti, A}, title = {Profile of Mary-Claire King, 2014 Lasker-Koshland Special Achievement in Medical Science awardee.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {50}, pages = {17690-17692}, pmid = {25425662}, issn = {1091-6490}, mesh = {*Awards and Prizes ; *Evolution, Molecular ; *Genes, BRCA1 ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Human Rights Abuses/*prevention &amp; control ; Regulatory Sequences, Nucleic Acid/*genetics ; }, }
@article {pmid25425043, year = {2014}, author = {Krantz, ID and Opitz, JM}, title = {Introduction--a Pallister jubilee.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {166C}, number = {4}, pages = {367-369}, doi = {10.1002/ajmg.c.31422}, pmid = {25425043}, issn = {1552-4876}, mesh = {*Chromosome Disorders/history ; Chromosomes, Human, Pair 12 ; *Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid25424727, year = {2014}, author = {Hall, JG}, title = {Pallister-Hall syndrome has gone the way of modern medical genetics.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {166C}, number = {4}, pages = {414-418}, doi = {10.1002/ajmg.c.31419}, pmid = {25424727}, issn = {1552-4876}, mesh = {*Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; Pallister-Hall Syndrome/*diagnosis/*genetics/history ; }, abstract = {The Pallister-Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. Subsequently, many patients were reported expanding the phenotype. Familial cases demonstrated variability and lead to linkage and then gene identification. Mutations in the responsible gene, GLI3 are also known to be involved in several other disorders. Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene.}, }
@article {pmid25424535, year = {2014}, author = {Elias, AF}, title = {The Shodair Medical Genetics Department--recent past and future developments.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {166C}, number = {4}, pages = {381-386}, doi = {10.1002/ajmg.c.31417}, pmid = {25424535}, issn = {1552-4876}, mesh = {*Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; *Hospital Departments/history ; *Hospitals, Pediatric/history ; Humans ; Montana ; }, abstract = {Philip Pallister and John Opitz laid the ground work for a unique genetic service model in Montana that continues to flourish through ongoing support by the Montana Legislature, the Montana Department of Public Health and Human Services and the Shodair Foundation. At the heart of the model are clinical and laboratory genetic specialists based at Shodair Children's Hospital in Helena providing genetic care for patients through outreach clinics. Clinical services are supported by a state-of-the-art cytogenetics and molecular genetic laboratory as well a fetal genetic pathology program. Over the years, the reach of regular genetics clinics expanded to include large geographic areas including northwest (Kalispell), west central (Missoula), southwest (Bozeman, Butte), north central (Great Falls), and south central Montana (Billings). Building on the foundation of its world-renowned pioneers, the next generation of medical geneticists at Shodair carries the responsibility of integrating genomic medicine in the diagnosis and care of their patients, reducing inequality of services within Montana and partnering with colleagues across specialties to develop a more personalized practice of medicine.}, }
@article {pmid25416941, year = {2014}, author = {Shi, Y}, title = {A glimpse of structural biology through X-ray crystallography.}, journal = {Cell}, volume = {159}, number = {5}, pages = {995-1014}, doi = {10.1016/j.cell.2014.10.051}, pmid = {25416941}, issn = {1097-4172}, mesh = {Animals ; Antineoplastic Agents/chemistry ; Crystallography, X-Ray/*history/*methods ; Databases, Protein ; History, 20th Century ; Humans ; Membrane Proteins/chemistry/genetics/metabolism ; Models, Molecular ; Molecular Biology/*history ; Protein Kinases/chemistry/genetics/metabolism ; Proteins/*chemistry/genetics/metabolism ; }, abstract = {Since determination of the myoglobin structure in 1957, X-ray crystallography, as the anchoring tool of structural biology, has played an instrumental role in deciphering the secrets of life. Knowledge gained through X-ray crystallography has fundamentally advanced our views on cellular processes and greatly facilitated development of modern medicine. In this brief narrative, I describe my personal understanding of the evolution of structural biology through X-ray crystallography-using as examples mechanistic understanding of protein kinases and integral membrane proteins-and comment on the impact of technological development and outlook of X-ray crystallography.}, }
@article {pmid25393683, year = {2014}, author = {Sijmons, RH and te Meerman, GJ and Hofstra, RM}, title = {Charles Buys (1942-2014).}, journal = {European journal of human genetics : EJHG}, volume = {22}, number = {12}, pages = {1343-1344}, pmid = {25393683}, issn = {1476-5438}, mesh = {Carcinoma, Renal Cell/genetics/therapy ; Genes, Tumor Suppressor/physiology ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Netherlands ; Small Cell Lung Carcinoma/genetics/therapy ; Societies, Scientific ; }, }
@article {pmid25367673, year = {2014}, author = {McArdle, JJ}, title = {Loehlin's original models and model contributions.}, journal = {Behavior genetics}, volume = {44}, number = {6}, pages = {614-619}, pmid = {25367673}, issn = {1573-3297}, support = {R01 AG007137/AG/NIA NIH HHS/United States ; R37 AG007137/AG/NIA NIH HHS/United States ; AG07137-23/AG/NIA NIH HHS/United States ; }, mesh = {Computer Simulation/history ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Psychological ; Personality ; Probability ; }, abstract = {This is a short story about John C. Loehlin who is now at the University of Texas at Austin, dealing with his original simulation models and developments, which led to his current latent variable models. This talk was initially presented at a special meeting for John before the BGA in Rhode Island, and I was very pleased to contribute. It probably goes without saying, but John helped create this important society, has been a key contributor to this journal for several decades, and he deserves a lot for this leadership.}, }
@article {pmid25364807, year = {2014}, author = {Kriegstein, AR}, title = {Yoshiki Sasai (1962–2014).}, journal = {Neuron}, volume = {83}, number = {6}, pages = {1237-1238}, doi = {10.1016/j.neuron.2014.09.014}, pmid = {25364807}, issn = {1097-4199}, mesh = {Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Japan ; Molecular Biology/*history ; Pluripotent Stem Cells ; }, }
@article {pmid25356973, year = {2015}, author = {Howard-Peebles, PN}, title = {Peripatetic southern cytogenetics.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {17}, number = {5}, pages = {425-426}, doi = {10.1038/gim.2014.159}, pmid = {25356973}, issn = {1530-0366}, mesh = {*Cytogenetics/history/methods ; Fragile X Syndrome/diagnosis/genetics ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid25356751, year = {2014}, author = {Hansson, GK}, title = {A journey in science: medical scientist in translation.}, journal = {Molecular medicine (Cambridge, Mass.)}, volume = {20}, number = {}, pages = {381-389}, pmid = {25356751}, issn = {1528-3658}, mesh = {Awards and Prizes ; *Genetic Predisposition to Disease ; Genetics, Population/history ; Genomics ; Hematologic Diseases/*genetics/history ; History, 20th Century ; Humans ; Molecular Medicine/history ; Translational Medical Research/*history ; }, abstract = {Real innovations in medicine and science are historic and singular; the stories behind each occurrence are precious. At Molecular Medicine we have established the Anthony Cerami Award in Translational Medicine to document and preserve these histories. The monographs recount the seminal events as told in the voice of the original investigators who provided the crucial early insight. These essays capture the essence of discovery, chronicling the birth of ideas that created new fields of research; and launched trajectories that persisted and ultimately influenced how disease is prevented, diagnosed and treated. In this volume, the Cerami Award Monograph is by Göran K Hansson, MD, PhD, Karolinska Institute. A visionary in the field of cardiovascular research, this is the story of Dr. Hansson's scientific journey.}, }
@article {pmid25354686, year = {2014}, author = {Nissen, P and Heilesen, L}, title = {Brian Clark has died--marking the end of an era: Professor Brian Frederic Carl Clark, founder of Structural Biology Research at Aarhus University, died on Monday, October 6, 2014. Aged 78 years.}, journal = {IUBMB life}, volume = {66}, number = {10}, pages = {655-656}, doi = {10.1002/iub.1325}, pmid = {25354686}, issn = {1521-6551}, mesh = {Biomedical Research/history ; Denmark ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Multiprotein Complexes/*history ; }, }
@article {pmid25351621, year = {2014}, author = {Waldman, I and Turkheimer, E}, title = {Introduction to a Festschrift for John Loehlin.}, journal = {Behavior genetics}, volume = {44}, number = {6}, pages = {547-548}, doi = {10.1007/s10519-014-9687-1}, pmid = {25351621}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid25326323, year = {2015}, author = {Davis, AP and Grondin, CJ and Lennon-Hopkins, K and Saraceni-Richards, C and Sciaky, D and King, BL and Wiegers, TC and Mattingly, CJ}, title = {The Comparative Toxicogenomics Database's 10th year anniversary: update 2015.}, journal = {Nucleic acids research}, volume = {43}, number = {Database issue}, pages = {D914-20}, pmid = {25326323}, issn = {1362-4962}, support = {R01-ES019604/ES/NIEHS NIH HHS/United States ; R01 ES023788/ES/NIEHS NIH HHS/United States ; R01-ES014065/ES/NIEHS NIH HHS/United States ; P20 GM104318/GM/NIGMS NIH HHS/United States ; R01 ES019604/ES/NIEHS NIH HHS/United States ; P20 GM103423/GM/NIGMS NIH HHS/United States ; R01 ES014065/ES/NIEHS NIH HHS/United States ; }, mesh = {*Databases, Chemical/history ; Disease/etiology/genetics ; Genomics/history ; History, 21st Century ; Internet ; Phenotype ; *Toxicogenetics/history ; }, abstract = {Ten years ago, the Comparative Toxicogenomics Database (CTD; http://ctdbase.org/) was developed out of a need to formalize, harmonize and centralize the information on numerous genes and proteins responding to environmental toxic agents across diverse species. CTD's initial approach was to facilitate comparisons of nucleotide and protein sequences of toxicologically significant genes by curating these sequences and electronically annotating them with chemical terms from their associated references. Since then, however, CTD has vastly expanded its scope to robustly represent a triad of chemical-gene, chemical-disease and gene-disease interactions that are manually curated from the scientific literature by professional biocurators using controlled vocabularies, ontologies and structured notation. Today, CTD includes 24 million toxicogenomic connections relating chemicals/drugs, genes/proteins, diseases, taxa, phenotypes, Gene Ontology annotations, pathways and interaction modules. In this 10th year anniversary update, we outline the evolution of CTD, including our increased data content, new 'Pathway View' visualization tool, enhanced curation practices, pilot chemical-phenotype results and impending exposure data set. The prototype database originally described in our first report has transformed into a sophisticated resource used actively today to help scientists develop and test hypotheses about the etiologies of environmentally influenced diseases.}, }
@article {pmid25316786, year = {2014}, author = {Hahn, S}, title = {Ellis Englesberg and the discovery of positive control in gene regulation.}, journal = {Genetics}, volume = {198}, number = {2}, pages = {455-460}, pmid = {25316786}, issn = {1943-2631}, support = {R01 GM053451/GM/NIGMS NIH HHS/United States ; R01 GM075114/GM/NIGMS NIH HHS/United States ; GM053451/GM/NIGMS NIH HHS/United States ; GM075114/GM/NIGMS NIH HHS/United States ; }, mesh = {Escherichia coli/*genetics ; *Gene Expression Regulation, Bacterial ; Genetics/history ; History, 20th Century ; Operon ; Transcription, Genetic ; }, abstract = {Based on his work with the Escherichia coli l-arabinose operon, Ellis Englesberg proposed in 1965 that the regulatory gene araC was an &quot;activator gene&quot; required for positive control of the ara operon. This challenged the widely held belief in a universal mechanism of negative regulation proposed earlier by Jacob and Monod. For years, Englesberg's model was met with deep skepticism. Despite much frustration with complex ad hoc explanations used to challenge his model, Englesberg persisted until the evidence for positive control in ara and other systems became overwhelming. Englesberg's pioneering work enriched the original operon model and had a lasting impact in opening new and exciting ways of thinking about transcriptional regulation.}, }
@article {pmid25316778, year = {2014}, author = {Ausubel, FM}, title = {Twists and turns: my career path and concerns about the future.}, journal = {Genetics}, volume = {198}, number = {2}, pages = {431-434}, pmid = {25316778}, issn = {1943-2631}, support = {P30 DK040561/DK/NIDDK NIH HHS/United States ; }, mesh = {Animals ; *Awards and Prizes ; History, 20th Century ; History, 21st Century ; Host-Pathogen Interactions/*genetics ; Immunity, Innate/genetics ; Molecular Biology/history ; Plant Immunity/*genetics ; United States ; }, abstract = {THE Genetics Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. The 2014 recipient is Frederick Ausubel, whose 40-year career has centered on host-microbe interactions and host innate immunity. He is widely recognized as a key scientist responsible for establishing the modern postrecombinant DNA field of host-microbe interactions using simple nonvertebrate hosts. He has used genetic approaches to conduct pioneering work that spawned six related areas of research: the evolution and regulation of Rhizobium genes involved in symbiotic nitrogen fixation; the regulation of Rhizobium genes by two-component regulatory systems involving histidine kinases; the establishment of Arabidopsis thaliana as a worldwide model system; the identification of a large family of plant disease resistance genes; the identification of so-called multi-host bacterial pathogens; and the demonstration that Caenorhabditis elegans has an evolutionarily conserved innate immune system that shares features of both plant and mammalian immunity.}, }
@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 {pmid25295950, year = {2014}, author = {King, MC}, title = {Lasker Award winner Mary-Claire King.}, journal = {Nature medicine}, volume = {20}, number = {10}, pages = {1124-1125}, doi = {10.1038/nm.3696}, pmid = {25295950}, issn = {1546-170X}, support = {R01 CA157744/CA/NCI NIH HHS/United States ; R01 CA175716/CA/NCI NIH HHS/United States ; R35 CA197458/CA/NCI NIH HHS/United States ; }, mesh = {Animals ; Breast Neoplasms/*genetics ; Female ; *Genes, BRCA1 ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; Schizophrenia/genetics ; Social Justice/history ; }, }
@article {pmid25288111, year = {2014}, author = {Tilghman, SM}, title = {Twists and turns: a scientific journey.}, journal = {Annual review of cell and developmental biology}, volume = {30}, number = {}, pages = {1-21}, doi = {10.1146/annurev-cellbio-100913-013512}, pmid = {25288111}, issn = {1530-8995}, mesh = {Amino Acid Sequence ; Animals ; Canada ; Chromosome Walking ; Embryonic Development/genetics ; Eye Proteins/genetics/history ; Gene Expression Regulation, Developmental ; Genomic Imprinting ; History, 20th Century ; History, 21st Century ; Homeodomain Proteins/genetics/history ; Humans ; Mice ; Molecular Biology/*history ; Molecular Sequence Data ; National Institutes of Health (U.S.) ; New Jersey ; PAX6 Transcription Factor ; Paired Box Transcription Factors/genetics/history ; RNA Splicing ; RNA, Long Noncoding/genetics/history ; Repressor Proteins/genetics/history ; United States ; Universities/*history ; alpha-Fetoproteins/genetics/history ; beta-Globins/genetics/history ; }, abstract = {In this perspective I look back on the twists and turns that influenced the direction of my scientific career over the past 40 years. From my early ambition to be a chemist to my training in Philadelphia and Bethesda as a molecular biologist, I benefited enormously from generous and valuable mentoring. In my independent career in Philadelphia and Princeton, I was motivated by a keen interest in the changes in gene expression that direct the development of the mammalian embryo and inspired by the creativity and energy of my students, fellows, and research staff. After twelve years as President of Princeton University, I have happily returned to the faculty of the Department of Molecular Biology.}, }
@article {pmid25282391, year = {2014}, author = {Stark, L and Campbell, ND}, title = {Stowaways in the history of science: the case of simian virus 40 and clinical research on federal prisoners at the US National Institutes of Health, 1960.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {48 Pt B}, number = {}, pages = {218-230}, doi = {10.1016/j.shpsc.2014.07.011}, pmid = {25282391}, issn = {1879-2499}, mesh = {Animals ; Biomedical Research/ethics/*history ; Historiography ; History, 20th Century ; Humans ; Molecular Biology/history ; *Morals ; National Institutes of Health (U.S.)/history ; Nontherapeutic Human Experimentation/ethics/history ; Polyomavirus Infections/*history/virology ; Prisoners/history ; Prisons/*history ; Respiratory Syncytial Viruses ; Science/ethics/history ; *Simian virus 40 ; Tumor Virus Infections/*history/virology ; United States ; Virology/ethics/*history ; }, abstract = {In 1960, J. Anthony Morris, a molecular biologist at the US National Institutes of Health conducted one of the only non-therapeutic clinical studies of the cancer virus SV40. Morris and his research team aimed to determine whether SV40 was a serious harm to human health, since many scientists at the time suspected that SV40 caused cancer in humans based on evidence from in vivo animal studies and experiments with human tissue. Morris found that SV40 had no significant effect but his claim has remained controversial among scientists and policymakers through the present day--both on scientific and ethical grounds. Why did Morris only conduct one clinical study on the cancer-causing potential of SV40 in healthy humans? We use the case to explain how empirical evidence and ethical imperatives are, paradoxically, often dependent on each other and mutually exclusive in clinical research, which leaves answers to scientific and ethical questions unsettled. This paper serves two goals: first, it documents a unique--and uniquely important--study of clinical research on SV40. Second, it introduces the concept of &quot;the stowaway,&quot; which is a special type of contaminant that changes the past in the present moment. In the history of science, stowaways are misfortunes that nonetheless afford research that otherwise would have been impossible specifically by creating new pasts. This case (Morris' study) and concept (the stowaway) bring together history of science and philosophy of history for productive dialog.}, }
@article {pmid25276872, year = {2014}, author = {Nye, MJ}, title = {Mine, thine, and ours: collaboration and co-authorship in the material culture of the mid-twentieth century chemical laboratory.}, journal = {Ambix}, volume = {61}, number = {3}, pages = {211-235}, doi = {10.1179/0002698014Z.00000000055}, pmid = {25276872}, issn = {0002-6980}, mesh = {Authorship/*history ; California ; Chemistry/*history ; *Cooperative Behavior ; Crystallography, X-Ray/*history ; England ; Germany ; History, 20th Century ; Molecular Biology/*history ; Molecular Structure ; }, abstract = {Patterns of collaboration and co-authorship in chemical science from the 1920s to the 1960s are examined with an eye to frequency of co-authorship and differences in allocation of credit during a period of increasing team research and specialization within chemical research groups. Three research leaders in the cross-disciplinary and cutting edge field of X-ray crystallography and molecular structure are the focus of this historical study within a framework of sociological literature on different collaborative patterns followed by eminent scientists. The examples of Michael Polanyi in Berlin and Manchester, Linus Pauling in Pasadena, and Dorothy Crowfoot Hodgkin in Oxford demonstrate the need to de-centre historical narrative from the heroic 'he' or 'she' to the collaborative 'they.' These cases demonstrate, too, the roles of disciplinary apprenticeships, local conditions, and individual personalities for historical explanation that transcends universal generalizations about scientific practice, material culture, and sociological trends.}, }
@article {pmid25264775, year = {2014}, author = {McPherson, JD}, title = {A defining decade in DNA sequencing.}, journal = {Nature methods}, volume = {11}, number = {10}, pages = {1003-1005}, pmid = {25264775}, issn = {1548-7105}, mesh = {Animals ; Genome ; Genomics/history/trends ; History, 21st Century ; Humans ; PubMed ; Sequence Analysis, DNA/*methods/*trends ; Sequence Analysis, RNA/methods/trends ; }, }
@article {pmid25257081, year = {2014}, author = {Potter, H}, title = {David H. Dressler 1941-2014.}, journal = {Nature genetics}, volume = {46}, number = {10}, pages = {1044}, doi = {10.1038/ng.3099}, pmid = {25257081}, issn = {1546-1718}, support = {R01 AG037942/AG/NIA NIH HHS/United States ; R01 NS076291/NS/NINDS NIH HHS/United States ; }, mesh = {Bacteriophage phi X 174/*genetics ; *DNA Replication ; DNA, Viral/*genetics/ultrastructure ; History, 20th Century ; History, 21st Century ; Microscopy, Electron ; Molecular Biology/*history ; United States ; }, }
@article {pmid25246583, year = {2014}, author = {Davis, TH}, title = {Profile of Daniel E. Gottschling.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {39}, pages = {14007-14008}, pmid = {25246583}, issn = {1091-6490}, mesh = {Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Research/history ; Saccharomyces cerevisiae/genetics ; Telomere/genetics ; United States ; }, }
@article {pmid25237695, year = {2014}, author = {Blanchoin, L}, title = {Laurent Blanchoin.}, journal = {Current biology : CB}, volume = {24}, number = {15}, pages = {R674-5}, doi = {10.1016/j.cub.2014.06.007}, pmid = {25237695}, issn = {1879-0445}, mesh = {Actin Cytoskeleton/*physiology ; Cell Biology/*history ; France ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Morphogenesis ; United States ; }, }
@article {pmid25237690, year = {2014}, author = {Ferrie, JE}, title = {Arsenic, antibiotics and interventions.}, journal = {International journal of epidemiology}, volume = {43}, number = {4}, pages = {977-982}, pmid = {25237690}, issn = {1464-3685}, mesh = {Antitreponemal Agents/*history ; *Areca ; *Arsenic Poisoning ; Arsphenamine/*history ; Drinking Water/*chemistry ; *Drug Resistance, Microbial ; Genetics/*history ; *Health Status Disparities ; History, 19th Century ; History, 20th Century ; Humans ; Social Class ; }, }
@article {pmid25236456, year = {2014}, author = {Kirkwood, T}, title = {In memoriam Robin Holliday (November 6, 1932-April 9, 2014).}, journal = {Genetics}, volume = {198}, number = {1}, pages = {423-424}, pmid = {25236456}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; *Recombination, Genetic ; }, }
@article {pmid25220743, year = {2014}, author = {Van Soom, A and Peelman, L and Holt, WV and Fazeli, A}, title = {An introduction to epigenetics as the link between genotype and environment: a personal view.}, journal = {Reproduction in domestic animals = Zuchthygiene}, volume = {49 Suppl 3}, number = {}, pages = {2-10}, doi = {10.1111/rda.12341}, pmid = {25220743}, issn = {1439-0531}, mesh = {Animals ; Biological Evolution ; DNA Methylation/genetics ; *Environment ; *Epigenesis, Genetic/genetics ; Epigenomics/history ; Female ; Gene-Environment Interaction ; Genomic Imprinting ; *Genotype ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Malnutrition ; Pregnancy ; Prenatal Exposure Delayed Effects ; Selection, Genetic ; Twin Studies as Topic ; }, abstract = {Lamarck was one of the first scientists who attempted to explain evolution, and he is especially well known for formulating the concept that acquired characteristics can be transmitted to future generations and may therefore steer evolution. Although Lamarckism fell out of favour soon after the publication of Darwin's work on natural selection and evolution, the concept of transmission of acquired characteristics has recently gained renewed attention and has led to some rethinking of the standard evolutionary model. Epigenetics, or the study of heritable (mitotically and/or meiotically) changes in gene activity that are not brought about by changes in the DNA sequence, can explain some types of ill health in offspring, which have been exposed to stressors during early development, when DNA is most susceptible to such epigenetic influences. In this review, we explain briefly the history of epigenetics and we propose some examples of epigenetic and transgenerational effects demonstrated in humans and animals. Growing evidence is available that the health and phenotype of a given individual is already shaped shortly before and after the time of conception. Some evidence suggests that epigenetic markings, which have been established around conception, can also be transmitted to future generations. This knowledge can possibly be used to revolutionize animal breeding and to increase human and animal health worldwide.}, }
@article {pmid25215481, year = {2014}, author = {Botstein, D}, title = {Lasker∼Koshland to genetics pioneer.}, journal = {Cell}, volume = {158}, number = {6}, pages = {1230-1232}, doi = {10.1016/j.cell.2014.08.020}, pmid = {25215481}, issn = {1097-4172}, mesh = {Animals ; *Awards and Prizes ; Biological Evolution ; Disease/*genetics ; Female ; Genetics, Medical/*history ; History, 20th Century ; Human Rights ; Humans ; United States ; }, abstract = {The 2014 Lasker∼Koshland Special Achievement Award will be presented to Mary-Claire King, a pioneer and visionary who revolutionized the use of genetics to identify disease genes, provide insights into human evolution, and champion human rights causes.}, }
@article {pmid25215373, year = {2014}, author = {Affolte, M and Müller, M}, title = {Walter Jakob Gehring (1939–2014).}, journal = {Developmental cell}, volume = {30}, number = {2}, pages = {120-122}, doi = {10.1016/j.devcel.2014.07.011}, pmid = {25215373}, issn = {1878-1551}, mesh = {Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Switzerland ; }, }
@article {pmid25196046, year = {2014}, author = {Hurst, JH}, title = {Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science.}, journal = {The Journal of clinical investigation}, volume = {124}, number = {10}, pages = {4148-4151}, pmid = {25196046}, issn = {1558-8238}, mesh = {*Awards and Prizes ; BRCA1 Protein/genetics ; Biomedical Research/*history ; Breast Neoplasms/*genetics ; Female ; Genetic Predisposition to Disease ; Genetics/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid25195318, year = {2014}, author = {McCandlish, DM and Stoltzfus, A}, title = {Modeling evolution using the probability of fixation: history and implications.}, journal = {The Quarterly review of biology}, volume = {89}, number = {3}, pages = {225-252}, doi = {10.1086/677571}, pmid = {25195318}, issn = {0033-5770}, mesh = {Adaptation, Biological ; *Biological Evolution ; Genetics/*history ; History, 20th Century ; *Models, Genetic ; }, abstract = {Many models of evolution calculate the rate of evolution by multiplying the rate at which new mutations originate within a population by a probability of fixation. Here we review the historical origins, contemporary applications, and evolutionary implications of these &quot;origin-fixation&quot; models, which are widely used in evolutionary genetics, molecular evolution, and phylogenetics. Origin-fixation models were first introduced in 1969, in association with an emerging view of &quot;molecular&quot; evolution. Early origin-fixation models were used to calculate an instantaneous rate of evolution across a large number of independently evolving loci; in the 1980s and 1990s, a second wave of origin-fixation models emerged to address a sequence of fixation events at a single locus. Although origin fixation models have been applied to a broad array of problems in contemporary evolutionary research, their rise in popularity has not been accompanied by an increased appreciation of their restrictive assumptions or their distinctive implications. We argue that origin-fixation models constitute a coherent theory of mutation-limited evolution that contrasts sharply with theories of evolution that rely on the presence of standing genetic variation. A major unsolved question in evolutionary biology is the degree to which these models provide an accurate approximation of evolution in natural populations.}, }
@article {pmid25194808, year = {2014}, author = {Hattori, N and Ushijima, T}, title = {Compendium of aberrant DNA methylation and histone modifications in cancer.}, journal = {Biochemical and biophysical research communications}, volume = {455}, number = {1-2}, pages = {3-9}, doi = {10.1016/j.bbrc.2014.08.140}, pmid = {25194808}, issn = {1090-2104}, mesh = {Antineoplastic Agents/history/therapeutic use ; CpG Islands ; *DNA Methylation ; Epigenesis, Genetic/drug effects ; Epigenomics/*history ; Glioma/genetics/history ; Histones/genetics/*history/metabolism ; History, 20th Century ; History, 21st Century ; Mutation ; Neoplasms/diagnosis/drug therapy/genetics/*history ; }, abstract = {Epigenetics now refers to the study or research field related to DNA methylation and histone modifications. Historically, global DNA hypomethylation was first revealed in 1983, and, after a decade, silencing of a tumor suppressor gene by regional DNA hypermethylation was reported. After the proposal of the histone code in the 2000s, alterations of histone methylation were also identified in cancers. Now, it is established that aberrant epigenetic alterations are involved in cancer development and progression, along with mutations and chromosomal losses. Recent cancer genome analyses have revealed a large number of mutations of epigenetic modifiers, supporting their important roles in cancer pathogenesis. Taking advantage of the reversibility of epigenetic alterations, drugs targeting epigenetic regulators and readers have been developed for restoration of normal pattern of the epigenome, and some have already demonstrated clinical benefits. In addition, DNA methylation of specific marker genes can be used as a biomarker for cancer diagnosis, including risk diagnosis, detection of cancers, and pathophysiological diagnosis. In this paper, we will summarize the major concepts of cancer epigenetics, placing emphasis on history.}, }
@article {pmid25191153, year = {2014}, author = {Rosenberg, LE}, title = {Four children and Yale: the making of a human geneticist: the Grover Powers lecture 2014.}, journal = {The Yale journal of biology and medicine}, volume = {87}, number = {3}, pages = {379-387}, pmid = {25191153}, issn = {1551-4056}, mesh = {Child ; Connecticut ; Female ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Male ; Metabolism, Inborn Errors/genetics/pathology ; Pediatrics/*history ; Universities/*history ; }, abstract = {Dr. Leon E. Rosenberg delivered the following presentation as the Grover Powers Lecturer on May 14, 2014, which served as the focal point of his return to his &quot;adult home&quot; as a Visiting Professor in the Department of Pediatrics. Grover F. Powers, MD, was one of the most influential figures in American Pediatrics and certainly the leader who created the modern Department of Pediatrics at Yale when he was recruited in 1921 from Johns Hopkins and then served as its second chairman from 1927 to 1951. Dr. Powers was an astute clinician and compassionate physician and fostered and shaped the careers of countless professors, chairs, and outstanding pediatricians throughout the country. This lectureship has continued yearly since it first honored Dr. Powers in 1956. The selection of Dr. Rosenberg for this honor recognizes his seminal role at Yale and throughout the world in the fostering and cultivating of the field of human genetics. Dr. Rosenberg served as the inaugural Chief of a joint Division of Medical Genetics in the Departments of Pediatrics and Internal Medicine; he became Chair when this attained Departmental status. Then he served as Dean of the Medical School from 1984 to 1991, before he became President of the Pharmaceutical Research Institute at Bristol-Myers Squibb and later Senior Molecular Biologist and Professor at Princeton University, until his recent retirement. Dr. Rosenberg has received numerous honors that include the Borden Award from the American Academy of Pediatrics, the McKusick Leadership Award from the American Society for Human Genetics, and election to the Institute of Medicine and the National Academy of Sciences.}, }
@article {pmid25189267, year = {2014}, author = {Focher, F}, title = {Maupertuis: the 'old synthesis'.}, journal = {Journal of genetics}, volume = {93}, number = {2}, pages = {607-608}, doi = {10.1007/s12041-014-0376-x}, pmid = {25189267}, issn = {0973-7731}, mesh = {Animals ; Biological Evolution ; Genetics, Medical/*history ; History, 18th Century ; Humans ; Selection, Genetic ; }, }
@article {pmid25187503, year = {2014}, author = {Taniguchi, N}, title = {Obituary: Dr. Yoshitaka Nagai (1935-2014).}, journal = {Glycobiology}, volume = {24}, number = {10}, pages = {883-884}, doi = {10.1093/glycob/cwu076}, pmid = {25187503}, issn = {1460-2423}, mesh = {Glycomics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid25185109, year = {2014}, author = {Lander, AD}, title = {Making sense in biology: an appreciation of Julian Lewis.}, journal = {BMC biology}, volume = {12}, number = {}, pages = {57}, pmid = {25185109}, issn = {1741-7007}, support = {P50 GM076516/GM/NIGMS NIH HHS/United States ; }, mesh = {Developmental Biology/methods ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid25184528, year = {2014}, author = {Jacobs, PA}, title = {An opportune life: 50 years in human cytogenetics.}, journal = {Annual review of genomics and human genetics}, volume = {15}, number = {}, pages = {29-46}, doi = {10.1146/annurev-genom-090413-025457}, pmid = {25184528}, issn = {1545-293X}, mesh = {Chromosome Aberrations ; *Cytodiagnosis ; Cytogenetics/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Karyotyping ; *Microscopy ; }, abstract = {This article is one person's view of human cytogenetics over the past 50 years. The flowering of human cytogenetics led the way to the establishment of clinical genetics as one of the most important developments in medicine in the twentieth century. The article is written from the viewpoint of a scientist who never tired of analyzing the images of dividing cells on the light microscope and interpreting the wealth of information contained in them.}, }
@article {pmid25163212, year = {2014}, author = {Blankstein, S}, title = {Pharmacogenomics: history, barriers, and regulatory solutions.}, journal = {Food and drug law journal}, volume = {69}, number = {2}, pages = {273-314, ii}, pmid = {25163212}, issn = {1064-590X}, mesh = {Drug Labeling/legislation &amp; jurisprudence ; Drug Therapy/methods ; Drug-Related Side Effects and Adverse Reactions/genetics ; Equipment Safety ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Humans ; Medical Device Legislation ; Pharmacogenetics/*history/*legislation &amp; jurisprudence ; Product Labeling/legislation &amp; jurisprudence ; United States ; United States Food and Drug Administration ; }, abstract = {Pharmacogenomics is the branch of pharmacology which looks at the influence of genetic variation on drug response, connecting particular genetic markers with the effectiveness or safety of a drug. Pharmacogenomic products promise to improve medical treatment, lower health care costs, and make the new drug pipeline for FDA approval more efficient. In the last fifteen years, the FDA has approved pharmacogenomic drugs to treat a variety of cancers, HIV-AIDS, and coronary artery disease. Yet, progress in the field of pharmacogenomics has lagged behind the optimistic predictions of many researchers and policymakers. A lack of clear regulatory guidance dealing with pharmacogenomic products has been a major barrier to progress in the field. The FDA has, however, made some headway. In a series of guidance documents released between 2005 and 2011, the FDA has clarified much of its policy with respect to the development, approval, and labeling of pharmacogenomic products. Despite these efforts, many regulatory questions remain unanswered. This paper highlights a number of these regulatory gaps and provides recommendations to address them in a way which encourages increased development and clinical uptake of pharmacogenomic products.}, }
@article {pmid25160630, year = {2014}, author = {Goodman, MF}, title = {The discovery of error-prone DNA polymerase V and its unique regulation by RecA and ATP.}, journal = {The Journal of biological chemistry}, volume = {289}, number = {39}, pages = {26772-26782}, pmid = {25160630}, issn = {1083-351X}, support = {R01 ES012259/ES/NIEHS NIH HHS/United States ; }, mesh = {DNA-Directed DNA Polymerase/*history/metabolism ; Escherichia coli/*enzymology ; Escherichia coli Proteins/*history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Rec A Recombinases/*history/metabolism ; }, abstract = {My career pathway has taken a circuitous route, beginning with a Ph.D. degree in electrical engineering from The Johns Hopkins University, followed by five postdoctoral years in biology at Hopkins and culminating in a faculty position in biological sciences at the University of Southern California. My startup package in 1973 consisted of $2,500, not to be spent all at once, plus an ancient Packard scintillation counter that had a series of rapidly flashing light bulbs to indicate a radioactive readout in counts/minute. My research pathway has been similarly circuitous. The discovery of Escherichia coli DNA polymerase V (pol V) began with an attempt to identify the mutagenic DNA polymerase responsible for copying damaged DNA as part of the well known SOS regulon. Although we succeeded in identifying a DNA polymerase, one that was induced as part of the SOS response, we actually rediscovered DNA polymerase II, albeit in a new role. A decade later, we discovered a new polymerase, pol V, whose activity turned out to be regulated by bound molecules of RecA protein and ATP. This Reflections article describes our research trajectory, includes a review of key features of DNA damage-induced SOS mutagenesis leading us to pol V, and reflects on some of the principal researchers who have made indispensable contributions to our efforts.}, }
@article {pmid25153039, year = {2014}, author = {Shinozaki, K}, title = {Interview with Kazuo Shinozaki.}, journal = {Trends in plant science}, volume = {19}, number = {11}, pages = {681-682}, doi = {10.1016/j.tplants.2014.07.008}, pmid = {25153039}, issn = {1878-4372}, mesh = {Botany/*history/trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/trends ; }, }
@article {pmid25152303, year = {2014}, author = {Zhang, F}, title = {Chih Tu: a pioneer of Xinjiang's agricultural science.}, journal = {Protein &amp; cell}, volume = {5}, number = {10}, pages = {725-727}, doi = {10.1007/s13238-014-0096-2}, pmid = {25152303}, issn = {1674-8018}, mesh = {Academies and Institutes ; Agriculture/education/*history ; Genetics/history ; History, 20th Century ; Humans ; Plants, Genetically Modified/growth &amp; development ; }, }
@article {pmid25142515, year = {2014}, author = {Capocci, M and Santoro, MG and Hightower, LE}, title = {The life and times of Ferruccio Ritossa.}, journal = {Cell stress &amp; chaperones}, volume = {19}, number = {5}, pages = {599-604}, pmid = {25142515}, issn = {1466-1268}, mesh = {DNA/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Italy ; Male ; Molecular Biology/*history ; }, abstract = {Ferruccio Ritossa wrote these lines only a few months before he died, as a preface to a book he wanted to write and that, unfortunately, we will never be able to read. It was to be the story of his life, an amazing story indeed. With this article, we want to take a picture of Ferruccio's life, a mosaic of events, facts, ideas, hopes, and memories linked in a way that they will not go away, even after &quot;a stroll in our brain.&quot;}, }
@article {pmid25131814, year = {2014}, author = {Foster, DA}, title = {In memoriam: Geoffrey Louis Zubay, 1931-2014. Pioneer in cell-free gene expression studies and molecular genetics.}, journal = {Trends in biochemical sciences}, volume = {39}, number = {11}, pages = {505-506}, doi = {10.1016/j.tibs.2014.07.007}, pmid = {25131814}, issn = {0968-0004}, mesh = {*Cell-Free System ; Gene Expression/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid25123749, year = {2014}, author = {Van Eyk, J}, title = {Prof. Michael (Mike) J. Dunn--paying forward.}, journal = {Proteomics. Clinical applications}, volume = {8}, number = {7-8}, pages = {476}, doi = {10.1002/prca.201470045}, pmid = {25123749}, issn = {1862-8354}, mesh = {England ; History, 20th Century ; History, 21st Century ; Proteomics/*history ; }, }
@article {pmid25123476, year = {2014}, author = {Brandhorst, BP and Emerson, CP}, title = {Tom D. Humphreys II: a pioneer of molecular embryology.}, journal = {Molecular reproduction and development}, volume = {81}, number = {8}, pages = {Fmi}, doi = {10.1002/mrd.22248}, pmid = {25123476}, issn = {1098-2795}, mesh = {Embryology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid25117220, year = {2014}, author = {Van Damme, EJ}, title = {History of plant lectin research.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1200}, number = {}, pages = {3-13}, doi = {10.1007/978-1-4939-1292-6_1}, pmid = {25117220}, issn = {1940-6029}, mesh = {Carbohydrate Metabolism ; Glycomics/history ; History, 20th Century ; History, 21st Century ; *Plant Lectins/chemistry/isolation &amp; purification/metabolism ; Research/*history ; }, abstract = {Numerous plant species are known to express one or more lectins or proteins containing a lectin domain, enabling these proteins to select and bind specific carbohydrate structures. The group of plant lectins is quite heterogeneous since lectins differ in their molecular structure, specificity for certain carbohydrate structures, and biological activities resulting therefrom. This chapter presents a short historical overview on how plant lectin research has evolved over the years from a discipline aiming merely at the purification and characterization of plant lectins towards the application of plant lectins as tools in glycobiology.}, }
@article {pmid25116609, year = {2014}, author = {Ganetzky, B and Wu, CF}, title = {Remembering Obaid Siddiqi, a pioneer in the study of temperature-sensitive paralytic mutants in Drosophila.}, journal = {Journal of biosciences}, volume = {39}, number = {4}, pages = {547-553}, pmid = {25116609}, issn = {0973-7138}, mesh = {Action Potentials/*genetics/physiology ; Animals ; Drosophila Proteins/metabolism ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; India ; Nervous System Physiological Phenomena/*genetics ; Neurosciences/*history ; Paralysis/*genetics ; *Temperature ; }, abstract = {Although Obaid Siddiqi's major research focus in neurogenetics was on chemosensation and olfaction in Drosophila, he made seminal contributions to the study of temperature-sensitive paralytic mutants that paved the way for research that we and many other investigators have continued to pursue. Here we recount Siddiqi's investigation and the impact it had on our own studies especially at a formative stage of our careers. We acknowledge our debt to Obaid Siddiqi and remember him fondly as an inspired and inspiring scientist, mentor, role model and human being.}, }
@article {pmid25116608, year = {2014}, author = {Fox, MS}, title = {Recalling Obaid.}, journal = {Journal of biosciences}, volume = {39}, number = {4}, pages = {545}, doi = {10.1007/s12038-014-9445-9}, pmid = {25116608}, issn = {0973-7138}, mesh = {Career Choice ; Genetics/*history ; History, 20th Century ; History, 21st Century ; India ; Neurosciences/*history ; Research/*history ; }, }
@article {pmid25116607, year = {2014}, author = {Jameel, S and Banerjee, U and VijayRaghavan, K}, title = {Remembering Obaid - one year later.}, journal = {Journal of biosciences}, volume = {39}, number = {4}, pages = {543-544}, doi = {10.1007/s12038-014-9463-7}, pmid = {25116607}, issn = {0973-7138}, mesh = {Animals ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; India ; Nervous System Physiological Phenomena/*genetics ; Neurosciences/*history ; }, }
@article {pmid25105190, year = {2014}, author = {Clausen, H and Nudelman, E and Hakomori, SI}, title = {Obituary: Steven Bruce Levery (1949–2014).}, journal = {Glycoconjugate journal}, volume = {31}, number = {5}, pages = {339-340}, doi = {10.1007/s10719-014-9531-0}, pmid = {25105190}, issn = {1573-4986}, mesh = {ABO Blood-Group System/chemistry/history/metabolism ; Chemistry/*history/methods ; Glycoconjugates/*chemistry/history/metabolism ; Glycolipids/chemistry/history/metabolism ; Glycomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Structure ; Neoplasms/metabolism ; Poetry as Topic ; Proteomics/history/methods ; United States ; }, }
@article {pmid25104804, year = {2014}, author = {Sikela, JM}, title = {Finding and mapping new genes faster than ever: revisited.}, journal = {Genetics}, volume = {197}, number = {4}, pages = {1063-1067}, pmid = {25104804}, issn = {1943-2631}, mesh = {3' Untranslated Regions/genetics ; *Chromosome Mapping ; Cloning, Molecular ; DNA, Complementary/*genetics ; Genome, Human ; History, 20th Century ; Human Genome Project/*history ; Humans ; Presenilin-2/genetics/isolation &amp; purification ; Sequence Analysis, DNA ; }, abstract = {This article recounts some of the early days of the Human Genome Project, covering the important and sometimes controversial role that complementary DNA-based approaches played in the discovery and mapping of the majority of human genes. It also describes my involvement in this effort and my lab's development of methods for rapid sequence identification and mapping of human genes.}, }
@article {pmid25098222, year = {2014}, author = {Villanueva Lozano, M}, title = {[Salvador Armendares: second generation Spanish refugee and pioneer of human genetics in Mexico].}, journal = {Gaceta medica de Mexico}, volume = {150}, number = {4}, pages = {352-361}, pmid = {25098222}, issn = {0016-3813}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Mexico ; Refugees ; Spain ; }, abstract = {This paper gives an analysis of Dr. Salvador Armendares' exile and professional career, with the aim of exploring the relation between the intellectual contributions of the second generation of Spanish refugees in Mexico and the origins of medical genetics in that country. The thesis is that the emigration of European refugees due to political issues, where eugenic values were exalted, paradoxically facilitated the establishment of medical genetics in Mexico. Interpretation of cultural, political, and social factors contributes to the analysis, avoiding Eurocentric and expansionist narratives.}, }
@article {pmid25097260, year = {2014}, author = {Affolter, M and Wüthrich, K}, title = {Walter Jakob Gehring: A master of developmental biology.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {35}, pages = {12574-12575}, pmid = {25097260}, issn = {1091-6490}, mesh = {Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Switzerland ; }, }
@article {pmid25079126, year = {2013}, author = {Brody, AJ and King, RJ}, title = {Letter to the editor: Genetics and the archaeology of ancient Israel.}, journal = {Human biology}, volume = {85}, number = {6}, pages = {925-940}, doi = {10.3378/027.085.0606}, pmid = {25079126}, issn = {1534-6617}, mesh = {Chromosomes, Human, Y/genetics ; Emigration and Immigration/history ; Ethnic Groups/*genetics/history ; Genetics, Population/history ; Haplotypes ; History, Ancient ; Humans ; Israel/ethnology ; Middle East/ethnology ; }, abstract = {This letter is a call for DNA testing on ancient skeletal materials from the southern Levant to begin a database of genetic information of the inhabitants of this crossroads region. In this region, during the Iron I period traditionally dated to circa 1200-1000 BCE, archaeologists and biblical historians view the earliest presence of a group that called itself Israel. They lived in villages in the varied hill countries of the region, contemporary with urban settlements in the coastal plains, inland valleys, and central hill country attributed to varied indigenous groups collectively called Canaanite. The remnants of Egyptian imperial presence in the region lasted until around 1150 BCE, postdating the arrival of an immigrant group from the Aegean called the Philistines circa 1175 BCE. The period that follows in the southern Levant is marked by the development of territorial states throughout the region, circa 1000-800 BCE. These patrimonial kingdoms, including the United Kingdom of Israel and the divided kingdoms of northern Israel and Judah, coalesced varied peoples under central leadership and newly founded administrative and religious bureaucracies. Ancient DNA testing will give us a further refined understanding of the individuals who peopled the region of the southern Levant throughout its varied archaeological and historic periods and provide scientific data that will support, refute, or nuance our sociohistoric reconstruction of ancient group identities. These social identities may or may not map onto genetic data, but without sampling of ancient DNA we may never know. A database of ancient DNA will also allow for comparisons with modern DNA samples collected throughout the greater region and the Mediterranean littoral, giving a more robust understanding of the long historical trajectories of regional human genetics and the genetics of varied ancestral groups of today's Jewish populations and other cultural groups in the modern Middle East and Mediterranean.}, }
@article {pmid25079124, year = {2013}, author = {Efron, JM}, title = {Commentary: Jewish genetic origins in the context of past historical and anthropological inquiries.}, journal = {Human biology}, volume = {85}, number = {6}, pages = {901-918}, doi = {10.3378/027.085.0602}, pmid = {25079124}, issn = {1534-6617}, mesh = {Anthropology/history/methods ; Anthropometry/history/methods ; Continental Population Groups/ethnology/genetics ; Genetics, Population/history/methods ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Jews/ethnology/*genetics/history ; Racism/ethnology ; Skull/anatomy &amp; histology ; }, abstract = {The contemporary study of Jewish genetics has a long prehistory dating to the eighteenth century. Prior to the era of genetics, studies of the physical makeup of Jews were undertaken by comparative anatomists and physical anthropologists. In the nineteenth century the field was referred to as &quot;race science.&quot; Believed by many race scientists to be a homogeneous and pure race, Jews occupied a central position in the discourse of race science because they were seen as the control group par excellence to determine the relative primacy of nature or nurture in the development of racial characteristics. In the nineteenth century, claims of Jewish homogeneity prompted research that sought to explain morphological differences among Jews, chief among them the difference between Sephardim and Ashkenazim. I examine some of these original debates here with a view to placing them in their historical and cultural contexts.}, }
@article {pmid25077349, year = {2013}, author = {}, title = {Festschrift in honor of Giovanni Neri--polyhedral and down-to-earth mentor.}, journal = {American journal of medical genetics. Part A}, volume = {161A}, number = {11}, pages = {2687-2920}, pmid = {25077349}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 20th Century ; Italy ; }, }
@article {pmid25066898, year = {2014}, author = {Bangham, J}, title = {Blood groups and human groups: collecting and calibrating genetic data after World War Two.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {74-86}, pmid = {25066898}, issn = {1879-2499}, support = {WT089652MA//Wellcome Trust/United Kingdom ; }, mesh = {*Blood ; Blood Group Antigens/*history ; Colonialism/history ; Continental Population Groups/genetics/history ; Data Collection/*history ; Genetics, Population/*history ; Health Resources ; History, 20th Century ; Humans ; Laboratories/history ; Literature, Modern ; Population Groups/*genetics ; Public Health/history ; World War II ; }, abstract = {Arthur Mourant's The Distribution of the Human Blood Groups (1954) was an &quot;indispensable&quot; reference book on the &quot;anthropology of blood groups&quot; containing a vast collection of human genetic data. It was based on the results of blood-grouping tests carried out on half-a-million people and drew together studies on diverse populations around the world: from rural communities, to religious exiles, to volunteer transfusion donors. This paper pieces together sequential stages in the production of a small fraction of the blood-group data in Mourant's book, to examine how he and his colleagues made genetic data from people. Using sources from several collecting projects, I follow how blood was encountered, how it was inscribed, and how it was turned into a laboratory resource. I trace Mourant's analytical and representational strategies to make blood groups both credibly 'genetic' and understood as relevant to human ancestry, race and history. In this story, 'populations' were not simply given, but were produced through public health, colonial and post-colonial institutions, and by the labour and expertise of subjects, assistants and mediators. Genetic data were not self-evidently 'biological', but were shaped by existing historical and geographical identities, by political relationships, and by notions of kinship and belonging.}, }
@article {pmid25053180, year = {2014}, author = {Garagna, S and Page, J and Fernandez-Donoso, R and Zuccotti, M and Searle, JB}, title = {The Robertsonian phenomenon in the house mouse: mutation, meiosis and speciation.}, journal = {Chromosoma}, volume = {123}, number = {6}, pages = {529-544}, pmid = {25053180}, issn = {1432-0886}, mesh = {Animals ; Centromere/*chemistry/ultrastructure ; Chromosome Aberrations ; Chromosome Segregation ; Chromosomes, Mammalian/chemistry/ultrastructure ; Female ; Fertility/genetics ; *Genetic Speciation ; History, 20th Century ; Karyotype ; Male ; Meiosis/*genetics ; Mice/*genetics ; Molecular Biology/history ; *Translocation, Genetic ; }, abstract = {Many different chromosomal races with reduced chromosome number due to the presence of Robertsonian fusion metacentrics have been described in western Europe and northern Africa, within the distribution area of the western house mouse Mus musculus domesticus. This subspecies of house mouse has become the ideal model for studies to elucidate the processes of chromosome mutation and fixation that lead to the formation of chromosomal races and for studies on the impact of chromosome heterozygosities on reproductive isolation and speciation. In this review, we briefly describe the history of the discovery of the first and subsequent metacentric races in house mice; then, we focus on the molecular composition of the centromeric regions involved in chromosome fusion to examine the molecular characteristics that may explain the great variability of the karyotype that house mice show. The influence that metacentrics exert on the nuclear architecture of the male meiocytes and the consequences on meiotic progression are described to illustrate the impact that chromosomal heterozygosities exert on fertility of house mice-of relevance to reproductive isolation and speciation. The evolutionary significance of the Robertsonian phenomenon in the house mouse is discussed in the final section of this review.}, }
@article {pmid25049107, year = {2014}, author = {Lipphardt, V}, title = {&quot;Geographical Distribution Patterns of Various Genes&quot;: genetic studies of human variation after 1945.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {50-61}, doi = {10.1016/j.shpsc.2014.05.006}, pmid = {25049107}, issn = {1879-2499}, mesh = {Anthropology, Physical/*history ; Anthropometry ; Blood Group Antigens ; Colonialism/history ; Continental Population Groups/genetics/*history ; Eugenics/*history ; *Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Humans ; Science/history ; World War II ; }, abstract = {After WWII, physical anthropologists and human geneticists struggled hard to demonstrate distance from 'racial science' and 'eugenics'. This was a crucial factor in the 'revolution' of physical anthropology in the 1950s, as contemporary accounts referred to it. My paper examines the apparent turn during this period from anthropometric measurements to blood-group analysis, and from 'races' to 'small endogamous populations', or 'isolates', as the unit of study. I demonstrate that anthropometry and blood-group analysis were used simultaneously and in the same research projects until the 1960s. Isolated populations were the new target groups of human population geneticists, from large continental groups to small village populations. Colonial infrastructures provided suitable conditions for these kinds of transnational research projects. I argue that this new framework helped to translate much of the content of earlier racial studies into a less attackable approach to human variation.}, }
@article {pmid25045177, year = {2014}, author = {Hogan, AJ}, title = {The 'morbid anatomy' of the human genome: tracing the observational and representational approaches of postwar genetics and biomedicine the William Bynum Prize Essay.}, journal = {Medical history}, volume = {58}, number = {3}, pages = {315-336}, pmid = {25045177}, issn = {2048-8343}, mesh = {*Awards and Prizes ; Biomedical Research/*history ; Chromosomes/genetics ; Genetics, Medical/*history ; *Genome, Human ; History, 20th Century ; Humans ; }, abstract = {This paper explores evolving conceptions and depictions of the human genome among human and medical geneticists during the postwar period. Historians of science and medicine have shown significant interest in the use of informational approaches in postwar genetics, which treat the genome as an expansive digital data set composed of three billion DNA nucleotides. Since the 1950s, however, geneticists have largely interacted with the human genome at the microscopically visible level of chromosomes. Mindful of this, I examine the observational and representational approaches of postwar human and medical genetics. During the 1970s and 1980s, the genome increasingly came to be understood as, at once, a discrete part of the human anatomy and a standardised scientific object. This paper explores the role of influential medical geneticists in recasting the human genome as being a visible, tangible, and legible entity, which was highly relevant to traditional medical thinking and practice. I demonstrate how the human genome was established as an object amenable to laboratory and clinical research, and argue that the observational and representational approaches of postwar medical genetics reflect, more broadly, the interdisciplinary efforts underlying the development of contemporary biomedicine.}, }
@article {pmid25043504, year = {2014}, author = {Heim, S}, title = {Boveri at 100: Boveri, chromosomes and cancer.}, journal = {The Journal of pathology}, volume = {234}, number = {2}, pages = {138-141}, doi = {10.1002/path.4406}, pmid = {25043504}, issn = {1096-9896}, mesh = {Chromosomes, Human/*genetics ; Cytogenetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; Medical Oncology/*history ; *Neoplasms/genetics ; }, abstract = {Microscopic studies of chromosomes in cells cultured from leukaemias and solid tumours have helped confirm the central tenet of Boveri's somatic mutation theory of cancer, namely that acquired chromosomal aberrations of susceptible target cells may cause their neoplastic transformation. Cancer cytogenetics - especially when used together with appropriate molecular genetic investigations of tumour parenchyma cells - offers diagnostic and prognostic information, insights into the clonal composition and evolution of neoplasms, and information about how the observed gains, losses and balanced relocations work pathogenetically. In the future, one may expect cancer cytogenetics to focus not only on how the various aberrations contribute to tumourigenesis, but also on why and how they occur, as well as on the biological meaning behind the polyclonality detected in several epithelial neoplasms. Finally, the study of different nuclear compartments during interphase may add to our understanding of how large-scale numerical and structural karyotypic aberrations may disturb normal controls of cell division and death to induce neoplastic transformation.}, }
@article {pmid25042975, year = {2014}, author = {Widmer, A}, title = {Making blood 'Melanesian': fieldwork and isolating techniques in genetic epidemiology (1963-1976).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {118-129}, doi = {10.1016/j.shpsc.2014.05.012}, pmid = {25042975}, issn = {1879-2499}, mesh = {Continental Population Groups/*genetics ; Culture ; Ethnic Groups/*genetics ; Genetics, Population/*history ; Hemoglobins/genetics ; History, 20th Century ; Humans ; Malaria/genetics ; Melanesia ; Molecular Epidemiology/*history ; United States ; }, abstract = {'Isolated' populations did not exist unproblematically for life scientists to study. This article examines the practical and conceptual labour, and the historical contingencies that rendered populations legible as 'isolates' for population geneticists. Though a standard historiographical narrative tells us that population geneticists were moving from typological understandings of biological variation to processual ones, cultural variation was understood as vulnerable to homogenisation. I chart the importance that D. Carleton Gajdusek placed on isolates from his promotion of genetic epidemiology in WHO technical reports and at a Cold Spring Harbour symposium to his fieldwork routines and collection practices in a group of South Pacific islands. His fieldwork techniques combined social, cultural and historical knowledge of the research subjects in order to isolate biological descent using genealogies. Having isolated a population, Gajdusek incorporated biological materials derived from that population into broad categories of 'Melanesian' and 'race' to generate statements about the genetics of abnormal haemoglobins and malaria. Alongside an analysis of Gajdusek's practices, I present different narratives of descent, kinship and identities learned during my ethnographic work in Vanuatu. These alternatives show tacit decisions made pertaining to scale in the production of 'isolates'.}, }
@article {pmid25032986, year = {2015}, author = {Toriello, HV}, title = {The genetics of luck.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {17}, number = {2}, pages = {164-165}, doi = {10.1038/gim.2014.87}, pmid = {25032986}, issn = {1530-0366}, mesh = {*Famous Persons ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid25030511, year = {2014}, author = {Thorn, SM}, title = {David Gutmann: making science work for patients.}, journal = {The Lancet. Neurology}, volume = {13}, number = {8}, pages = {762}, doi = {10.1016/S1474-4422(14)70163-2}, pmid = {25030511}, issn = {1474-4465}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Laboratory Personnel/*history ; Neurology/*history/trends ; }, }
@article {pmid25022488, year = {2014}, author = {Suárez-Díaz, E}, title = {Indigenous populations in Mexico: medical anthropology in the work of Ruben Lisker in the 1960s.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {108-117}, doi = {10.1016/j.shpsc.2014.05.011}, pmid = {25022488}, issn = {1879-2499}, mesh = {American Native Continental Ancestry Group/*history ; Anthropology, Medical/*history ; Genetic Variation ; Genetics, Population/*history ; Hematology/*history ; History, 20th Century ; Humans ; Mexico ; Population Groups ; World War II ; }, abstract = {Ruben Lisker's research on the genetic hematological traits of Mexican indigenous populations illustrates the intersection of international health policies and the local modernizing nationalism of the Mexican post-revolution period. Lisker's surveys of blood group types, and of G6PD (glucose-6-phosphodehydrogenase) and hemoglobin variants in indigenous populations, incorporated linguistic criteria in the sampling methods, and historical and cultural anthropological accounts in the interpretation of results. In doing so, Lisker heavily relied on the discourse and the infrastructure created by the indigenista program and its institutions. Simultaneously, Lisker's research was thoroughly supported by international and bilateral agencies and programs, including the malaria eradication campaign of the 1950s and 1960s. As a member of the scientific elite he was able to make original contributions to the postwar field of human population genetics. His systematic research illustrates the complex entanglement of local and international contexts that explains the co-construction of global knowledge on human variation after WWII.(1.)}, }
@article {pmid25018012, year = {2015}, author = {Rikhy, R and Kumar, V and Basole, A and Sanyal, S}, title = {Remembering K. S. Krishnan (1946-2014).}, journal = {Journal of neurogenetics}, volume = {29}, number = {1}, pages = {1-3}, doi = {10.3109/01677063.2014.943890}, pmid = {25018012}, issn = {1563-5260}, mesh = {Academies and Institutes/history ; Aged ; Electrophysiology/*history ; History, 20th Century ; History, 21st Century ; Humans ; India ; Male ; Molecular Biology/*history ; Research/*history ; }, abstract = {Dr. K. S. Krishnan was on the faculty of the Division of Biological Sciences at the Tata Institute of Fundamental Research (TIFR) in Mumbai, India, and later emeritus professor at the National Center for Biological Sciences (NCBS) in Bangalore, India. His research using fruit flies has contributed richly to our understanding of synaptic function and mechanisms of anesthetic action. Dr. Krishnan passed away suddenly of a heart attack on the 24th of May, 2014. Below a few of his students fondly recall how it was to work in his group.}, }
@article {pmid25015798, year = {2014}, author = {Alonso, JG}, title = {Lawrence D. Longo: from chronic fetal hypoxia to proteomic predictors of fetal distress syndrome - a life devoted to research and mentoring based on virtue-ethics.}, journal = {Advances in experimental medicine and biology}, volume = {814}, number = {}, pages = {15-26}, doi = {10.1007/978-1-4939-1031-1_3}, pmid = {25015798}, issn = {0065-2598}, mesh = {Cardiovascular Physiological Phenomena ; Chronic Disease ; Developmental Biology/ethics/*history ; Fetal Distress/*history/physiopathology ; Fetal Hypoxia/*history/physiopathology ; History, 20th Century ; *Mentors ; Proteomics/*history ; }, abstract = {The present chapter presents the experience of the author during his fellowship granted by the Fogarty Foundation of the NIH in the Division of Perinatal Biology, Loma Linda University, from 1989 to 1991. Experiments on maternal and fetal responses to long-term hypoxemia (including high-altitude) were performed successfully in pregnant sheep and their fetuses.Cardiovascular, hormonal and blood flow distribution responses were studied under a strict experimental protocol. As result of this research, four papers were accepted for publication in major scientific journals, and have served as basis for further research.Most of all, the leadership, virtue-based ethics, perseverance and continuous stimulus of Lawrence D. Longo is presented as an example to follow for future generations.}, }
@article {pmid25002089, year = {2014}, author = {Feklístov, A and Sharon, BD and Darst, SA and Gross, CA}, title = {Bacterial sigma factors: a historical, structural, and genomic perspective.}, journal = {Annual review of microbiology}, volume = {68}, number = {}, pages = {357-376}, doi = {10.1146/annurev-micro-092412-155737}, pmid = {25002089}, issn = {1545-3251}, support = {T32 EB009383/EB/NIBIB NIH HHS/United States ; T32 GM008284/GM/NIGMS NIH HHS/United States ; T32GM008284/GM/NIGMS NIH HHS/United States ; }, mesh = {Bacteria/chemistry/genetics/*metabolism ; Bacterial Proteins/*chemistry/*genetics/metabolism ; Gene Expression Regulation, Bacterial ; Genomics/history ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Sigma Factor/*chemistry/*genetics/metabolism ; }, abstract = {Transcription initiation is the crucial focal point of gene expression in prokaryotes. The key players in this process, sigma factors (σs), associate with the catalytic core RNA polymerase to guide it through the essential steps of initiation: promoter recognition and opening, and synthesis of the first few nucleotides of the transcript. Here we recount the key advances in σ biology, from their discovery 45 years ago to the most recent progress in understanding their structure and function at the atomic level. Recent data provide important structural insights into the mechanisms whereby σs initiate promoter opening. We discuss both the housekeeping σs, which govern transcription of the majority of cellular genes, and the alternative σs, which direct RNA polymerase to specialized operons in response to environmental and physiological cues. The review concludes with a genome-scale view of the extracytoplasmic function σs, the most abundant group of alternative σs.}, }
@article {pmid25002070, year = {2014}, author = {Bangham, J and de Chadarevian, S}, title = {Human heredity after 1945: moving populations centre stage.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {45-49}, doi = {10.1016/j.shpsc.2014.05.005}, pmid = {25002070}, issn = {1879-2499}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {Anthropology/history ; Colonialism ; Demography/history ; Epidemiology/history ; *Genetics, Population/history ; *Heredity ; History, 20th Century ; History, 21st Century ; Humans ; *Politics ; Public Health/history ; *Research/history ; Warfare ; }, abstract = {The essays in this issue look at the contested history of human heredity after 1945 from a new analytical angle, that of populations and the ways in which they were constructed and studied. One consequence of this approach is that we do not limit our attention to the disciplinary study of genetics. After the Second World War, populations became a central topic for an array of fields, including demography, anthropology, epidemiology, and public health. Human heredity had a role in all of these: demographers carried out mental surveys in efforts to distinguish hereditary from environmental factors, doctors screened newborns and tested pregnant women for chromosome disorders; anthropologists collected blood from remote locations to gain insights into the evolutionary history of human populations; geneticists monitored people exposed to radiation. Through this work, populations were labelled as clinical, normal, primitive, pure, vulnerable or exotic. We ask: how were populations chosen, who qualified as members, and how was the study of human heredity shaped by technical, institutional and geopolitical conditions? By following the practical and conceptual work to define populations as objects of research, the essays trace the circulation of practices across different fields and contexts, bringing into view new actors, institutions, and geographies. By doing so the collection shows how human heredity research was linked to the broader politics of the postwar world, one profoundly conditioned by Cold War tensions, by nationalist concerns, by colonial and post-colonial struggles, by modernisation projects and by a new internationalism.}, }
@article {pmid25001362, year = {2015}, author = {Goldstein, DM and Stawkowski, ME}, title = {James V. Neel and Yuri E. Dubrova: Cold War debates and the genetic effects of low-dose radiation.}, journal = {Journal of the history of biology}, volume = {48}, number = {1}, pages = {67-98}, doi = {10.1007/s10739-014-9385-0}, pmid = {25001362}, issn = {0022-5010}, mesh = {*Chernobyl Nuclear Accident ; DNA, Satellite/*radiation effects ; Dose-Response Relationship, Radiation ; History, 20th Century ; Humans ; Japan ; Minisatellite Repeats/radiation effects ; Mutation/radiation effects ; Radiation Genetics/*history ; USSR ; Ukraine ; United States ; World War II ; }, abstract = {This article traces disagreements about the genetic effects of low-dose radiation exposure as waged by James Neel (1915-2000), a central figure in radiation studies of Japanese populations after World War II, and Yuri Dubrova (1955-), who analyzed the 1986 Chernobyl nuclear power plant accident. In a 1996 article in Nature, Dubrova reported a statistically significant increase in the minisatellite (junk) DNA mutation rate in the children of parents who received a high dose of radiation from the Chernobyl accident, contradicting studies that found no significant inherited genetic effects among offspring of Japanese A-bomb survivors. Neel's subsequent defense of his large-scale longitudinal studies of the genetic effects of ionizing radiation consolidated current scientific understandings of low-dose ionizing radiation. The article seeks to explain how the Hiroshima/Nagasaki data remain hegemonic in radiation studies, contextualizing the debate with attention to the perceived inferiority of Soviet genetic science during the Cold War.}, }
@article {pmid24998339, year = {2014}, author = {Santesmases, MJ}, title = {The human autonomous karyotype and the origins of prenatal testing: children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {142-153}, doi = {10.1016/j.shpsc.2014.05.014}, pmid = {24998339}, issn = {1879-2499}, mesh = {Amniocentesis/*history ; Child ; *Chromosome Aberrations ; Cytogenetics/*history ; Down Syndrome/*history ; Female ; Genetic Testing/*history ; Genetics, Population/history ; History, 20th Century ; Humans ; *Karyotype ; Karyotyping/*history ; Pregnancy ; Pregnant Women ; Spain ; }, abstract = {Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentally altered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics was constructed. The techniques involved became the visual evidence that confirmed a medical examination and were configured as a material culture for redefining health and disease, or the normal and the abnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led to the stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilant medical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping became autonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis, data collected about patients over time contributed to the construction of population figures regarding birth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 at the Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who created the unit, and worked there as well as at other units in the large new hospitals of the national health care system built in Madrid during the mid-1960s and early 1970s.}, }
@article {pmid24983119, year = {2014}, author = {Holloman, B}, title = {Robin Holliday 1932-2014.}, journal = {Molecular cell}, volume = {54}, number = {4}, pages = {539-541}, doi = {10.1016/j.molcel.2014.05.010}, pmid = {24983119}, issn = {1097-4164}, mesh = {Aging ; *DNA, Cruciform ; Genetics/history ; History, 20th Century ; History, 21st Century ; *Homologous Recombination ; United Kingdom ; }, }
@article {pmid24983099, year = {2014}, author = {Holloman, B}, title = {Robin Holliday: 1932–2014.}, journal = {Cell}, volume = {157}, number = {5}, pages = {1001-1003}, doi = {10.1016/j.cell.2014.05.005}, pmid = {24983099}, issn = {1097-4172}, mesh = {*Aging ; Australia ; DNA, Cruciform/history ; England ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Recombination, Genetic ; }, }
@article {pmid24982176, year = {2014}, author = {Viegas, J}, title = {Profile of Jorge Dubcovsky.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {28}, pages = {10027-10028}, pmid = {24982176}, issn = {1091-6490}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Portraits as Topic ; Triticum/*genetics ; }, }
@article {pmid24968964, year = {2014}, author = {Löwy, I}, title = {How genetics came to the unborn: 1960-2000.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {154-162}, doi = {10.1016/j.shpsc.2014.05.015}, pmid = {24968964}, issn = {1879-2499}, mesh = {Congenital Abnormalities/genetics/*history ; Cytogenetics/history ; Down Syndrome/history ; Female ; Genetic Testing/*history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Pregnancy ; Prenatal Diagnosis/*history ; }, abstract = {Prenatal diagnosis (PND) is frequently identified with genetic testing. The termination of pregnancy for foetal malformation was called 'genetic abortion', in spite of the fact that in many cases the malformation does not result from changes in the genetic material of the cell. This study argues that the 'geneticization' of PND reflected the transformation of the meaning of the term 'genetics' in the 1960s and 70s. Such transformation was linked with the definition of Down syndrome as a genetic condition, and to the key role of search for this condition in the transformation of PND into a routine approach. The identification of PND with the polysemic term 'genetics' was also favoured by hopes that cytogenetic studies will lead to cures or prevention of common birth defects, the association of genetic counsellors with prenatal diagnosis, and the raising prestige of clinical genetics. In spite of the impressive achievements of the latter specialty, more than fifty years after the first prenatal diagnoses, the main 'cure' of a severe foetal malformation remains the same as it was in the 1960s: the termination of a pregnancy. The identification of PND with genetics deflects attention from the gap between scientists' capacity to elucidate the causes of numerous birth defects and their ability (as for now) to prevent or treat these defects, and favours the maintenance of a powerful regimen of hope.}, }
@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 {pmid24958859, year = {2014}, author = {Novick, PJ}, title = {A pathway of a hundred genes starts with a single mutant: isolation of sec1-1.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {25}, pages = {9019-9020}, pmid = {24958859}, issn = {1091-6490}, support = {R01 GM035370/GM/NIGMS NIH HHS/United States ; R01 GM082861/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history ; Munc18 Proteins/*genetics/history/ultrastructure ; Saccharomyces cerevisiae/*genetics ; Saccharomyces cerevisiae Proteins/*genetics/history/ultrastructure ; }, }
@article {pmid24954363, year = {2014}, author = {de Chadarevian, S}, title = {Chromosome surveys of human populations: between epidemiology and anthropology.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {87-96}, doi = {10.1016/j.shpsc.2014.05.009}, pmid = {24954363}, issn = {1879-2499}, support = {099392/Z/12/Z//Wellcome Trust/United Kingdom ; }, mesh = {Anthropology/history ; *Chromosomes ; Data Collection/history ; Genetics, Population/*history ; Heredity ; History, 20th Century ; Humans ; Population Groups/*genetics ; Research/*history ; }, abstract = {It is commonly held that after 1945 human genetics turned medical and focussed on the individual rather than on the study of human populations that had become discredited. However, a closer look at the research practices at the time quickly reveals that human population studies, using old and new tools, prospered in this period. The essay focuses on the rise of chromosome analysis as a new tool for the study of human populations. It reviews a broad array of population studies ranging from newborn screening programmes to studies of isolated or 'primitive' people. Throughout, it highlights the continuing role of concerns and opportunities raised by the propagation of atomic energy for civilian and military uses, the collection of large data bases and computers, and the role of international organisations like the World Health Organisation and the International Biological Programme in shaping research agendas and carving out a space for human heredity in the postwar era.}, }
@article {pmid24954362, year = {2014}, author = {Lindee, S}, title = {Scaling up: human genetics as a Cold War network.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {185-190}, doi = {10.1016/j.shpsc.2014.05.018}, pmid = {24954362}, issn = {1879-2499}, mesh = {*Continental Population Groups ; *Data Collection ; *Genetics, Medical/history ; *Genetics, Population/history ; History, 20th Century ; Humans ; Public Health ; *Research ; Warfare ; }, abstract = {In this commentary I explore how the papers here illuminate the processes of collection that have been so central to the history of human genetics since 1945. The development of human population genetics in the Cold War period produced databases and biobanks that have endured into the present, and that continue to be used and debated. In the decades after the bomb, scientists collected and transferred human biological materials and information from populations of interest, and as they moved these biological resources or biosocial resources acquired new meanings and uses. The papers here collate these practices and map their desires and ironies. They explore how a large international network of geneticists, biological anthropologists, virologists and other physicians and scientists interacted with local informants, research subjects and public officials. They also track the networks and standards that mobilized the transfer of information, genealogies, tissue and blood samples. As Joanna Radin suggests here, the massive collections of human biological materials and data were often understood to be resources for an &quot;as-yet-unknown&quot; future. The stories told here contain elements of surveillance, extraction, salvage and eschatology.}, }
@article {pmid24954151, year = {2014}, author = {de Souza, VS and Santos, RV}, title = {The emergence of human population genetics and narratives about the formation of the Brazilian nation (1950-1960).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {97-107}, doi = {10.1016/j.shpsc.2014.05.010}, pmid = {24954151}, issn = {1879-2499}, mesh = {Brazil ; Continental Population Groups/*history ; *Genetic Variation ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; Humans ; Research/*history ; Science/history ; Social Change/history ; World War II ; }, abstract = {This paper discusses the emergence of human population genetics in Brazil in the decades following World War II, and pays particular attention to narratives about the formation of the Brazilian nation. We analyze the institutionalization of this branch of genetics in the 1950s and 1960s, and look at research on the characteristics of the population of Brazil, which made use of new explanatory models of evolutionary dynamics. These developments were greatly influenced by the activities of the Rockefeller Foundation and by the presence of North American geneticists in Brazil, especially Theodosius Dobzhansky. One of the main points of this paper is to show that explanations of Brazilian human genetic diversity constructed in the mid-twentieth century closely followed interpretations that had been produced since the end of the nineteenth century, in which notions of 'racial mixing' played a central role. Even as population genetics was conditioned by nationalist concerns that had long marked Brazilian history, we argue that its emergence and institutionalization was closely associated with global, post-World War II socio-political contexts, especially with regards to modernization projects and growing scientific internationalization.}, }
@article {pmid24947269, year = {2014}, author = {Bauer, S}, title = {Mutations in Soviet public health science: post-Lysenko medical genetics, 1969-1991.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {47 Pt A}, number = {}, pages = {163-172}, doi = {10.1016/j.shpsc.2014.05.016}, pmid = {24947269}, issn = {1879-2499}, mesh = {Academies and Institutes/*history ; Environmental Monitoring ; Genetics, Medical/*history ; Genetics, Population/history ; History, 20th Century ; Humans ; Mutagens ; *Mutation ; Public Health/*history ; Research/*history ; USSR ; Warfare ; }, abstract = {This paper traces the integration of human genetics with Soviet public health science after the Lysenko era. For nearly three decades, USSR biology pursued its own version of anti-bourgeois, Soviet 'creative Darwinism', departing from western, post-WWII scientific developments. After Lysenko was suspended, research niches of immunology, biophysics and mutation research formed the basis of new departments at the Institute of Medical Genetics, which was founded in 1969 as part of the Soviet Academy of Medical Sciences. Focussing on early research activities and collaborations at the institute, I show how the concept of mutagenesis, a pivotal issue during the Cold War, became mobilized from Drosophila genetics to human heredity and to society as a whole. This mode of scaling up and down through population studies shaped not only Soviet human biology and genetics; it also brought about changes in clinical practice and public health as well as in the monitoring and regulation of mutagenic agents in the environment.}, }
@article {pmid24941737, year = {2014}, author = {Bangham, J}, title = {Writing, printing, speaking: Rhesus blood-group genetics and nomenclatures in the mid-twentieth century.}, journal = {British journal for the history of science}, volume = {47}, number = {173 Pt 2}, pages = {335-361}, doi = {10.1017/s0007087413000332}, pmid = {24941737}, issn = {0007-0874}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; Rh-Hr Blood-Group System/classification/*genetics/*history ; *Terminology as Topic ; United Kingdom ; United States ; }, abstract = {In the 1940s and 1950s, British and American journals published a flood of papers by doctors, pathologists, geneticists and anthropologists debating the virtues of two competing nomenclatures used to denote the Rhesus blood groups. Accounts of this prolonged and often bitter episode have tended to focus on the main protagonists' personalities and theoretical commitments. Here I take a different approach and use the literature generated by the dispute to recover the practical and epistemic functions of nomenclatures in genetics. Drawing on recent work that views inscriptions as part of the material culture of science, I use the Rhesus controversy to think about the ways in which geneticists visualized and negotiated their objects of research, and how they communicated and collaborated with workers in other settings. Extending recent studies of relations between different media, I consider the material forms of nomenclatures, as they were jotted in notebooks, printed in journals, scribbled on blackboards and spoken out loud. The competing Rhesus nomenclatures had different virtues as they were expressed in different media and made to embody commitments to laboratory practices. In exploring the varied practical and epistemic qualities of nomenclatures I also suggest a new understanding of the Rhesus controversy itself.}, }
@article {pmid24941735, year = {2014}, author = {Peterson, E}, title = {The conquest of vitalism or the eclipse of organicism? The 1930s Cambridge organizer project and the social network of mid-twentieth-century biology.}, journal = {British journal for the history of science}, volume = {47}, number = {173 Pt 2}, pages = {281-304}, doi = {10.1017/s0007087413000435}, pmid = {24941735}, issn = {0007-0874}, mesh = {Biology/*history ; England ; Genetics/history ; History, 20th Century ; *Social Support ; Vitalism/*history ; }, abstract = {In the 1930s, two concepts excited the European biological community: the organizer phenomenon and organicism. This essay examines the history of and connection between these two phenomena in order to address the conventional 'rise-and-fall' narrative that historians have assigned to each. Scholars promoted the 'rise-and-fall' narrative in connection with a broader account of the devitalizing of biology through the twentieth century. I argue that while limited evidence exists for the 'fall of the organizer concept' by the 1950s, the organicism that often motivated the organizer work had no concomitant fall--even during the mid-century heyday of molecular biology. My argument is based on an examination of shifting social networks of life scientists from the 1920s to the 1970s, many of whom attended or corresponded with members of the Cambridge Theoretical Biology Club (1932-1938). I conclude that the status and cohesion of these social networks at the micro scale was at least as important as macro-scale conceptual factors in determining the relative persuasiveness of organicist philosophy.}, }
@article {pmid24940588, year = {2014}, author = {Hayflick, L}, title = {Robin Holliday (1932–2014).}, journal = {Biogerontology}, volume = {15}, number = {3}, pages = {213-215}, doi = {10.1007/s10522-014-9502-7}, pmid = {24940588}, issn = {1573-6768}, mesh = {*Aging ; Australia ; Cell Biology/*history ; Geriatrics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid24932353, year = {2014}, author = {Roberts, R}, title = {Dr. Robert Roberts oversees special issue on genomic medicine for the Methodist DeBakey Cardiovascular Journal.}, journal = {Methodist DeBakey cardiovascular journal}, volume = {10}, number = {1}, pages = {1}, pmid = {24932353}, issn = {1947-6108}, mesh = {Biomedical Research/*history ; Cardiovascular Diseases/genetics/*history ; Genetic Predisposition to Disease ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Risk Factors ; }, }
@article {pmid24915693, year = {2014}, author = {Romeo Casabona, CM}, title = {[The construction of the law applicable to human genetics and biotechnology over the past two decades].}, journal = {Revista de derecho y genoma humano = Law and the human genome review}, volume = {Spec No}, number = {}, pages = {27-52}, pmid = {24915693}, issn = {1134-7198}, mesh = {Biotechnology/*history/*legislation &amp; jurisprudence ; Genetics, Medical/*history/*legislation &amp; jurisprudence ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid24912161, year = {2014}, author = {Azar, B}, title = {Profile of Bruce Levin.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {23}, pages = {8316-8318}, pmid = {24912161}, issn = {1091-6490}, mesh = {Anti-Bacterial Agents/pharmacology ; Computer Simulation ; Directed Molecular Evolution/methods ; Drug Resistance, Bacterial ; Escherichia coli/drug effects/*genetics ; *Evolution, Molecular ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Models, Theoretical ; United States ; }, }
@article {pmid24905591, year = {2014}, author = {Nicolas, JF}, title = {François Jacob, or the thirst for novelty.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {370-374}, doi = {10.1016/j.resmic.2014.05.014}, pmid = {24905591}, issn = {1769-7123}, mesh = {Animals ; Cell Biology/*history/trends ; Cytogenetics/*history/trends ; Drosophila ; Embryonic Stem Cells/physiology ; History, 20th Century ; Mice ; Molecular Biology/*history/trends ; }, abstract = {François Jacob tackled embryonic development from 1972 onwards, in the &quot;Génétique cellulaire&quot; Unit of the Molecular Biology Department at the Pasteur Institute, taking as models teratocarcinoma and the early stages of mouse embryo development. Studies on teratocarcinoma provided no major information about developmental processes, but they were the essential step without which embryonic stem cells (ES, iPS) would probably not have been discovered. The mechanisms of development were revealed by genetic approaches coupled to molecular biology, but with the Drosophila model rather than the mouse embryo. Since these studies, it has been revealed that developmental mechanisms among animals have proven to be universal. None of these results were predicted in 1972.}, }
@article {pmid24896809, year = {2014}, author = {Jeggo, P and Gounari, F}, title = {Robin Holliday 1932-2014.}, journal = {Nature structural &amp; molecular biology}, volume = {21}, number = {6}, pages = {501-502}, doi = {10.1038/nsmb.2835}, pmid = {24896809}, issn = {1545-9985}, mesh = {Genetics/*history ; History, 20th Century ; Homologous Recombination ; United Kingdom ; }, }
@article {pmid24882823, year = {2014}, author = {Roll-Hansen, N}, title = {The holist tradition in twentieth century genetics. Wilhelm Johannsen's genotype concept.}, journal = {The Journal of physiology}, volume = {592}, number = {11}, pages = {2431-2438}, pmid = {24882823}, issn = {1469-7793}, mesh = {Animals ; *Biological Evolution ; Chromosomes/*genetics ; Genes, Plant ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {The terms 'genotype', 'phenotype' and 'gene' originally had a different meaning from that in the Modern Synthesis. These terms were coined in the first decade of the twentieth century by the Danish plant physiologist Wilhelm Johannsen. His bean selection experiment and his theoretical analysis of the difference between genotype and phenotype were important inputs to the formation of genetics as a well-defined special discipline. This paper shows how Johannsen's holistic genotype theory provided a platform for criticism of narrowly genocentric versions of the chromosome theory of heredity that came to dominate genetics in the middle decades of the twentieth century. Johannsen came to recognize the epoch-making importance of the work done by the Drosophila group, but he continued to insist on the incompleteness of the chromosome theory. Genes of the kind that they mapped on the chromosomes could only give a partial explanation of biological heredity and evolution.}, }
@article {pmid24878280, year = {2014}, author = {Miller, JH}, title = {&quot;There were giants in the earth in those days.&quot; Genesis 6:4.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {359-361}, doi = {10.1016/j.resmic.2014.05.016}, pmid = {24878280}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24873987, year = {2014}, author = {Davies, J}, title = {&quot;A ce moment-là&quot;.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {351-352}, doi = {10.1016/j.resmic.2014.05.006}, pmid = {24873987}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24870391, year = {2014}, author = {Fellous, M}, title = {Boy or girl's mendelian genetics with &quot;precious&quot; 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 {pmid24864334, year = {2014}, author = {}, title = {Special issue dedicated to Sir David Alan Hopwood.}, journal = {Journal of industrial microbiology &amp; biotechnology}, volume = {41}, number = {2}, pages = {173-477}, pmid = {24864334}, issn = {1476-5535}, mesh = {Biological Products/history ; Genomics/*history ; History, 20th Century ; Streptomyces/genetics ; United Kingdom ; }, }
@article {pmid24861002, year = {2014}, author = {Kaiser, AD}, title = {Learning about prophages from François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {335-337}, doi = {10.1016/j.resmic.2014.05.010}, pmid = {24861002}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Gene Expression Regulation, Viral ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; Prophages/genetics ; }, }
@article {pmid24859464, year = {2014}, author = {Fellous, M and Fellous, A}, title = {François le &quot;commandeur&quot;.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {388-390}, doi = {10.1016/j.resmic.2014.05.008}, pmid = {24859464}, issn = {1769-7123}, mesh = {Cell Biology/*history/trends ; Cytogenetics/*history/trends ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid24859146, year = {2014}, author = {Cohen, GN}, title = {Souvenirs.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {325-326}, doi = {10.1016/j.resmic.2014.05.018}, pmid = {24859146}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859143, year = {2014}, author = {Ullmann, A}, title = {Le &quot;grand&quot; François.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {327-330}, doi = {10.1016/j.resmic.2014.05.017}, pmid = {24859143}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859142, year = {2014}, author = {Signer, E}, title = {Through postdoc eyes.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {346-347}, doi = {10.1016/j.resmic.2014.05.029}, pmid = {24859142}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859141, year = {2014}, author = {Yaniv, M}, title = {With François Jacob, from temperature sensitive mutants of Escherichia coli to mouse development and diseases.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {367-369}, doi = {10.1016/j.resmic.2014.05.026}, pmid = {24859141}, issn = {1769-7123}, mesh = {Animals ; Cell Biology/*history/trends ; Escherichia coli/genetics ; Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Mice ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859140, year = {2014}, author = {Cohn, M}, title = {The Institut Pasteur attic dwellers: their origins, their paths to discovery.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {318-324}, doi = {10.1016/j.resmic.2014.05.027}, pmid = {24859140}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, abstract = {Although this volume is dedicated to honoring François Jacob, I would like my contribution to broaden the context by recalling the background within which the scientists of those times operated. The specific scientific accomplishments of Jacob will certainly be covered by the other contributors who collaborated with him. My handful of recollections presented here largely as vignettes is intended to give the reader a feeling for the elements, many social, that shaped the generation of scientists that included such central figures, Jacob, Lwoff, Monod. It is the tale of a generation trying to express its creativity in a world caught up in war, irrational values and unforgivable inhumanity. Even this limited account is a great story bringing us important lessons for thought.}, }
@article {pmid24859139, year = {2014}, author = {Gros, F}, title = {Memories of François Jacob: the inspirer and the friend.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {331-332}, doi = {10.1016/j.resmic.2014.05.022}, pmid = {24859139}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859138, year = {2014}, author = {Pereira da Silva, LH}, title = {One day in François Jacob's laboratory.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {343-345}, doi = {10.1016/j.resmic.2014.05.025}, pmid = {24859138}, issn = {1769-7123}, mesh = {Bacteriophage lambda ; Gene Expression Regulation, Bacterial ; Gene Expression Regulation, Viral ; Genetics, Microbial/*history/trends ; History, 20th Century ; Lysogeny ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859136, year = {2014}, author = {Campbell, A}, title = {Recollections of François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {338-339}, doi = {10.1016/j.resmic.2014.05.028}, pmid = {24859136}, issn = {1769-7123}, mesh = {Bacteriophages/genetics ; Gene Expression Regulation, Bacterial ; Gene Expression Regulation, Viral ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859135, year = {2014}, author = {Reznikoff, WS}, title = {Viewing Francois Jacob (and Jacques Monod) through AGC &amp; T.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {357-358}, doi = {10.1016/j.resmic.2014.05.024}, pmid = {24859135}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Sequence Analysis, DNA ; }, }
@article {pmid24859134, year = {2014}, author = {Beckwith, J}, title = {Mission possible: getting to yes with François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {348-350}, pmid = {24859134}, issn = {1769-7123}, support = {R01 GM041883/GM/NIGMS NIH HHS/United States ; }, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24859133, year = {2014}, author = {Schwartz, M}, title = {A geneticist in the attic.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {353-356}, doi = {10.1016/j.resmic.2014.05.021}, pmid = {24859133}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24858939, year = {2014}, author = {Fsihi, H}, title = {François Jacob: the Mensch behind the scientist.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {311-312}, doi = {10.1016/j.resmic.2014.05.005}, pmid = {24858939}, issn = {1769-7123}, mesh = {France ; Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24853972, year = {2014}, author = {Siminovitch, L}, title = {My friend, François Jacob, an icon among icons.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {316-317}, doi = {10.1016/j.resmic.2014.05.023}, pmid = {24853972}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24853971, year = {2014}, author = {Dove, W and Shedlovsky, A}, title = {François Jacob--the rest of the story.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {362-364}, doi = {10.1016/j.resmic.2014.05.013}, pmid = {24853971}, issn = {1769-7123}, mesh = {Cell Biology/*history/trends ; Genetics, Microbial/*history/trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/trends ; }, }
@article {pmid24853970, year = {2014}, author = {Meselson, M}, title = {François and &quot;X&quot;.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {313-315}, doi = {10.1016/j.resmic.2014.05.004}, pmid = {24853970}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24853969, year = {2014}, author = {Guénet, JL}, title = {François Jacob, …. an outstanding mentor!.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {377-379}, doi = {10.1016/j.resmic.2014.05.002}, pmid = {24853969}, issn = {1769-7123}, mesh = {Animals ; Cell Biology/*history/trends ; Cytogenetics/*history/trends ; Embryology/*history/trends ; History, 20th Century ; History, 21st Century ; Mice ; Molecular Biology/*history/trends ; }, }
@article {pmid24853968, year = {2014}, author = {Louvard, D}, title = {My move from EMBL to Institut Pasteur, a tribute to François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {383-385}, doi = {10.1016/j.resmic.2014.05.020}, pmid = {24853968}, issn = {1769-7123}, mesh = {Cell Biology/*history/trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/trends ; }, }
@article {pmid24853967, year = {2014}, author = {Eisen, H}, title = {LE PATRON: reminiscences of life with François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {340-342}, doi = {10.1016/j.resmic.2014.05.011}, pmid = {24853967}, issn = {1769-7123}, mesh = {Cell Biology/*history/trends ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; }, }
@article {pmid24853966, year = {2014}, author = {Kellermann, O}, title = {Lineage stem cell lines: test tubes to build pathophysiological scenarios and discover therapeutic targets.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {380-382}, doi = {10.1016/j.resmic.2014.05.003}, pmid = {24853966}, issn = {1769-7123}, mesh = {Cell Differentiation ; Cytogenetics/*history/*methods/trends ; Embryonic Stem Cells/*drug effects/*physiology ; History, 20th Century ; History, 21st Century ; Stem Cell Research/*history ; Therapeutics ; }, }
@article {pmid24853965, year = {2014}, author = {Cuzin, F}, title = {François Jacob at the cutting edge.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {365-366}, doi = {10.1016/j.resmic.2014.05.009}, pmid = {24853965}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24853964, year = {2014}, author = {Thomas, R}, title = {Merci François Jacob.}, journal = {Research in microbiology}, volume = {165}, number = {5}, pages = {333-334}, doi = {10.1016/j.resmic.2014.05.012}, pmid = {24853964}, issn = {1769-7123}, mesh = {Gene Expression Regulation, Bacterial ; Genetics, Microbial/*history/trends ; History, 20th Century ; Molecular Biology/*history/trends ; Operon ; }, }
@article {pmid24853264, year = {2014}, author = {Fogg, CN and Kovats, DE}, title = {2014 ISCB Accomplishment by a Senior Scientist Award: Gene Myers.}, journal = {PLoS computational biology}, volume = {10}, number = {5}, pages = {e1003621}, doi = {10.1371/journal.pcbi.1003621}, pmid = {24853264}, issn = {1553-7358}, mesh = {*Awards and Prizes ; Germany ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Societies/*history ; Systems Biology/*history ; United States ; }, }
@article {pmid24850150, year = {2014}, author = {Arthur, W}, title = {Obituary: Bryan Clarke.}, journal = {Evolution &amp; development}, volume = {16}, number = {3}, pages = {181}, doi = {10.1111/ede.12079}, pmid = {24850150}, issn = {1525-142X}, mesh = {Animals ; Biological Evolution ; England ; Gastropoda/classification/genetics ; Genetics, Population/*history ; History, 20th Century ; *Periodicals as Topic ; }, }
@article {pmid24840850, year = {2014}, author = {Portin, P}, title = {The birth and development of the DNA theory of inheritance: sixty years since the discovery of the structure of DNA.}, journal = {Journal of genetics}, volume = {93}, number = {1}, pages = {293-302}, pmid = {24840850}, issn = {0973-7731}, mesh = {DNA/chemistry/*genetics/history ; Heredity/*genetics ; History, 20th Century ; Molecular Biology/history ; Nucleic Acid Conformation ; Research/history ; }, abstract = {The development of the DNA theory of inheritance culminated in the publication of the molecular structure of DNA 60 years ago. This paper describes this development, beginning with the discovery of DNA as a chemical substance by Friedrich Miescher in 1869, followed by its basic chemical analysis and demonstration of its participation in the structure of chromosomes. Subsequently it was discovered by Oswald Avery in 1944 that DNA was the genetic material, and then Erwin Chargaff showed that the proportions of the bases included in the structure of DNA followed a certain law. These findings, in association with the biophysical studies of Maurice Wilkins and Rosalind Franklin with Raymond Gosling, led James Watson and Francis Crick to the discovery of the double-helical structure of DNA in 1953. The paper ends with a short description of the development of the DNA theory of inheritance after the discovery of the double helix.}, }
@article {pmid24835449, year = {2014}, author = {Farnetani, F and Farnetani, I}, title = {[Giuseppe Roberto Burgio (1919-2014)].}, journal = {Minerva pediatrica}, volume = {66}, number = {2}, pages = {151-160}, pmid = {24835449}, issn = {0026-4946}, mesh = {Anemia/history ; Bone Marrow Transplantation/history ; Faculty, Medical/*history ; Famous Persons ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/history ; Italy ; *Leadership ; Manuals as Topic ; Pediatrics/education/*history ; Schools, Medical/*history ; Sicily ; Universities/*history ; }, }
@article {pmid24827033, year = {2014}, author = {Jou, C}, title = {The biology and genetics of obesity--a century of inquiries.}, journal = {The New England journal of medicine}, volume = {370}, number = {20}, pages = {1874-1877}, doi = {10.1056/NEJMp1400613}, pmid = {24827033}, issn = {1533-4406}, mesh = {Biomedical Research/history ; Energy Intake/physiology ; Genetic Predisposition to Disease/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Obesity/genetics/*history/metabolism ; Twin Studies as Topic/history ; }, }
@article {pmid24824401, year = {2014}, author = {Jones, S}, title = {Bryan Clarke.}, journal = {Heredity}, volume = {112}, number = {6}, pages = {569-570}, pmid = {24824401}, issn = {1365-2540}, mesh = {England ; *Genetics/history ; History, 19th Century ; }, }
@article {pmid24816433, year = {2014}, author = {Maes, HH and Hatemi, PK and Neale, MC}, title = {Lindon J. Eaves, Ph.D., M.A. (Oxon), D.Sc. Theory-model-data.}, journal = {Behavior genetics}, volume = {44}, number = {3}, pages = {183-192}, pmid = {24816433}, issn = {1573-3297}, support = {R01 DA024413/DA/NIDA NIH HHS/United States ; R25 MH019918/MH/NIMH NIH HHS/United States ; U01 DA024413/DA/NIDA NIH HHS/United States ; DA025109/DA/NIDA NIH HHS/United States ; R37 DA018673/DA/NIDA NIH HHS/United States ; R01 DA025109/DA/NIDA NIH HHS/United States ; R01 DA018673/DA/NIDA NIH HHS/United States ; MH019918/MH/NIMH NIH HHS/United States ; }, mesh = {Adolescent ; Adolescent Behavior/history ; Genetic Association Studies/*history ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; Twin Studies as Topic/*history ; United States ; }, abstract = {We begin this special issue by providing a glimpse into the career of Dr. Lindon J. Eaves, from the perspectives of a student, postdoc, instructor, assistant to associate and full professor over the last 20 odd years. We focus primarily on Lindon's contributions to methodological issues and research designs to address them, in particular those related to models for extended twin-family designs, for the development of adolescent behavior, for genotype-environment covariation and interaction, and their application to the Virginia 30,000 and the Virginia Twin Study of Adolescent Behavioral Development. We then introduce the collection of papers in this special festschrift issue of Behavior Genetics, celebrating Dr. Eaves achievements over the last 40 years.}, }
@article {pmid24812699, year = {2014}, author = {Roe, BA}, title = {Frederick Sanger (1918–2013).}, journal = {Genome research}, volume = {24}, number = {4}, pages = {xi-xii}, pmid = {24812699}, issn = {1549-5469}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@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 &quot;natural selection&quot; 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, &quot;blending,&quot; 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 {pmid24801698, year = {2014}, author = {Grütter, MG}, title = {Biocrystallography in Switzerland: achievements and future perspectives.}, journal = {Chimia}, volume = {68}, number = {1-2}, pages = {54-59}, doi = {10.2533/chimia.2014.54}, pmid = {24801698}, issn = {0009-4293}, mesh = {Biochemistry/history/*methods ; Crystallography/history/*methods ; History, 20th Century ; History, 21st Century ; Models, Molecular ; Molecular Biology/history/methods ; Protein Conformation ; Proteins/*chemistry ; Switzerland ; }, abstract = {The first protein crystallography group in Switzerland was installed at the Biozentrum of the University of Basel approximately 40 years ago. Since then protein crystallography has grown and matured remarkably and is now established in the molecular biology, biochemistry or biological medicine departments of most major Swiss Universities as well as in the pharmaceutical industry and in biotech startup companies. Swiss X-ray biocrystallography groups have made remarkable contributions from the beginning and have brought Switzerland to the forefront in biostructural research during the last 5 to 10 years. Switzerland has now a leading position in the areas of supramolecular complexes, membrane proteins and structure-based drug design in pharmaceutical and biotech industries. Protein crystallography on the outer membrane protein ompF as well as the development of the lipidic cubic phase crystallization methodology has been pioneered at the Biozentrum. The latter found its somewhat late recognition through the recent explosion in structure determinations of the seven transmembrane helix G-coupled receptors. Highlights from Swiss structural biology groups in the field of supramolecular complexes include the structures of ribosomal particles, of the nucleosome and the pilus assembly complex of uropathogenic E. coli. On the membrane protein side advances in the field of ABC transporters and ion channels are world-recognized achievements of Swiss structural biology. Dedicated laboratories at many academic and industrial institutions, their current research programs, the availability of excellent infrastructure and the continuing efforts to build new facilities such as the SwissFEL indicate an even brighter future for structural biology in Switzerland.}, }
@article {pmid24795993, year = {2014}, author = {Zeleznik-Le, NJ and Testa, JR}, title = {In memoriam: Janet D. Rowley, MD (April 5, 1925-December 17, 2013).}, journal = {Cancer genetics}, volume = {207}, number = {1-2}, pages = {46-47}, doi = {10.1016/j.cancergen.2014.01.005}, pmid = {24795993}, issn = {2210-7762}, mesh = {Chicago ; Chromosome Aberrations ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; Leukemia/*genetics ; Oncogenes ; }, }
@article {pmid24794131, year = {2014}, author = {Mosher, RA}, title = {Interview with Rebecca A. Mosher.}, journal = {Trends in plant science}, volume = {19}, number = {7}, pages = {409-410}, doi = {10.1016/j.tplants.2014.04.002}, pmid = {24794131}, issn = {1878-4372}, mesh = {Animals ; Botany/*history ; Epigenesis, Genetic ; History, 20th Century ; History, 21st Century ; Humans ; Hunger ; Malnutrition/prevention &amp; control ; Molecular Biology/history ; Plants/*genetics ; }, }
@article {pmid24794128, year = {2014}, author = {Dangl, JL}, title = {Interview with Jeffrey L. Dangl.}, journal = {Trends in plant science}, volume = {19}, number = {6}, pages = {342-343}, doi = {10.1016/j.tplants.2014.04.003}, pmid = {24794128}, issn = {1878-4372}, mesh = {Botany/*history ; California ; Germany ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; North Carolina ; }, }
@article {pmid24787998, year = {2014}, author = {Zehender, G and Ebranati, E and Lai, A and Luzzago, C and Paladini, S and Tagliacarne, C and Galli, C and Galli, M and Ciccozzi, M and Zanetti, AR and Romanò, L}, title = {Phylogeography and phylodynamics of European genotype 3 hepatitis E virus.}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {25}, number = {}, pages = {138-143}, doi = {10.1016/j.meegid.2014.04.016}, pmid = {24787998}, issn = {1567-7257}, mesh = {Animals ; Bayes Theorem ; Europe ; Evolution, Molecular ; Genes, Viral ; Genotype ; Hepatitis E/transmission/veterinary/*virology ; Hepatitis E virus/*classification/*genetics ; History, 19th Century ; History, 20th Century ; Phylogeography/history ; Sequence Analysis, RNA ; Swine ; Swine Diseases/epidemiology/*virology ; }, abstract = {Hepatitis E virus is classified into four genotypes that have different geographical and host distributions. The main cause of sporadic autochthonous type E acute hepatitis in developed countries is genotype 3, which has a worldwide distribution and widely infects pigs. The aim of this study was to make hypotheses concerning the origin and global dispersion routes of this genotype by reconstructing the spatial and temporal dynamics of 208 HEV genotype 3 ORF-2 sequences (retrieved from public databases) isolated in different geographical areas. The evolutionary rates, time of the most recent common ancestors (tMRCAs), epidemic growth and phylogeography of HEV-3 were co-estimated using a MCMC Bayesian method. The maximum clade credibility tree showed the existence of two distinct main clades: clade A, which consists of only European subtypes (HEV-3e and 3f), and clade B, which consists of European subtype 3c and all of the Asian subtypes (3a, 3b and 3d) sharing a common ancestor, which most probably existed in Asia in 1920s. All of the North American isolates belonged to Asian subtype 3a. On the basis of our time-scaled phylogeographical reconstruction, we hypothesise that after originating in the early 1800s in Europe, HEV reached Asia in the first decades of 1900, and then moved to America probably in the 1970s-1980s. Analysis of the skyline plot showed a sharp increase of the number of infections between the 1980s and 2005, thus suggesting the intervention of new and highly efficient routes of transmission possibly related to changes in the pig industry.}, }
@article {pmid24784159, year = {2014}, author = {Kaback, MM}, title = {Michael Kaback: people and places.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {16}, number = {12}, pages = {981-983}, doi = {10.1038/gim.2014.44}, pmid = {24784159}, issn = {1530-0366}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Tay-Sachs Disease/*genetics ; United States ; }, }
@article {pmid24784158, year = {2015}, author = {Hall, JG}, title = {Judith G. Hall: a genetic journey.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {17}, number = {1}, pages = {91-92}, doi = {10.1038/gim.2014.43}, pmid = {24784158}, issn = {1530-0366}, mesh = {British Columbia ; England ; *Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid24779058, year = {2014}, author = {Lander, E and Nybo, K}, title = {Scientists. Excitement for a new era.}, journal = {BioTechniques}, volume = {56}, number = {3}, pages = {107}, doi = {10.2144/000114142}, pmid = {24779058}, issn = {1940-9818}, mesh = {History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; United States ; }, }
@article {pmid24778217, year = {2014}, author = {Ravindran, S}, title = {Profile of Norbert Perrimon.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {21}, pages = {7501-7502}, pmid = {24778217}, issn = {1091-6490}, mesh = {Animals ; Developmental Biology/*history ; Drosophila/*physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Signal Transduction/*physiology ; }, }
@article {pmid24777854, year = {2014}, author = {Jiang, L}, title = {Causes of aging are likely to be many: robin holliday and changing molecular approaches to cell aging, 1963-1988.}, journal = {Journal of the history of biology}, volume = {47}, number = {4}, pages = {547-584}, pmid = {24777854}, issn = {0022-5010}, mesh = {Animals ; *Cellular Senescence ; Cytoplasm/metabolism ; Drosophila melanogaster/physiology ; Epigenesis, Genetic ; *Evolution, Molecular ; Fibroblasts/physiology ; Fungi/physiology ; History, 20th Century ; Humans ; Molecular Biology/*history ; Physiology/*history ; Proteins/metabolism ; United Kingdom ; }, abstract = {Causal complexities involved in biological phenomena often generate ambiguous experimental results that may create epistemic niches for new approaches and interpretations. The exploration for new approaches may foment momentum of larger epistemological shifts, and thereby introduce the possibilities of adopting new technologies. This paper describes British molecular biologist Robin Holliday's cell aging research from 1963 to the 1980s that transformed from simple hypothesis testing to working on various alternative and integrative approaches designed to deal with complex data. In the 1960s, hoping to use biochemical investigations of cells to settle a debate about whether DNA mutations or protein errors caused aging, Holliday carried out a series of experiments with fruit flies, fungi, and human fibroblast cells. The results seemed to demonstrate that cytoplasmic protein errors caused cell aging. However, other scientists obtained contradictory results and raised issues about potential flaws in Holliday's experiments. In the 1970s, working as the director of the Genetics Division of the National Institute for Medical Research in Mill Hill, United Kingdom, Holliday relied on available talents of his associates, including computational expertise, to explore alternative hypotheses and approaches. By the early 1980s, they had worked out an epigenetic explanation and had established integrative, evolutionary models of cell aging that incorporated both DNA mutations and protein errors as critical factors. By delineating Holliday's research path from simply testing hypotheses to integrating multiple factors involved in aging, this paper offers an account of the difficulties in targeting molecular cause in cell aging around the 1970s, whose failures nevertheless opened up an epistemic niche for integration.}, }
@article {pmid24772659, year = {2014}, author = {Fando, RA}, title = {[S.G. Levit Moscow School of Medical Genetics].}, journal = {Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny}, volume = {}, number = {1}, pages = {44-47}, pmid = {24772659}, issn = {0869-866X}, mesh = {Academies and Institutes/*history ; Biomedical Research/*history ; Genetics, Medical/education/*history ; History, 19th Century ; History, 20th Century ; Humans ; Interdisciplinary Communication ; Moscow ; Specialization ; }, abstract = {The article considers medical genetic studies carried out by S.G. Levit scientific School. The workers of the Medical biologic institute studied geographical prevalence of different forms of colorblindness, early canities and surdomutism. The hospital examination of twins was another direction of research studies of Levit School. The organization of the mentioned research was clear-cut planned. The groups of researchers were organized to study normal and pathologic characteristics. The special research program was developed. The institute permanently carried out active workshops and conferences, published scientific transactions. The consolidation of various specialists around the scientific school made it possible to resolve many inter-disciplinary problems in the field of inherent pathology.}, }
@article {pmid24763290, year = {2014}, author = {Benkendorf, JL}, title = {Genetic legacy and the genomic future.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {16}, number = {11}, pages = {862-863}, doi = {10.1038/gim.2014.36}, pmid = {24763290}, issn = {1530-0366}, mesh = {Genetic Counseling ; Genetics, Medical/*history/trends ; Genomics/*history/trends ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid24756161, year = {2014}, author = {Shiroishi, T}, title = {&quot;Legacy of Dr. Kazuo Moriwaki&quot; (1930-2013).}, journal = {Mammalian genome : official journal of the International Mammalian Genome Society}, volume = {25}, number = {5-6}, pages = {193-194}, doi = {10.1007/s00335-014-9518-y}, pmid = {24756161}, issn = {1432-1777}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Japan ; Mice/classification/*genetics ; }, }
@article {pmid24749744, year = {2014}, author = {Héon, E and Levin, A and MacDonald, IM}, title = {In memoriam Maria Musarella.}, journal = {Ophthalmic genetics}, volume = {35}, number = {3}, pages = {129}, doi = {10.3109/13816810.2014.907922}, pmid = {24749744}, issn = {1744-5094}, mesh = {Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Ophthalmology/*history ; Physicians, Women/history ; United States ; }, }
@article {pmid24748373, year = {2014}, author = {Johnson, BR and Klaenhammer, TR}, title = {Impact of genomics on the field of probiotic research: historical perspectives to modern paradigms.}, journal = {Antonie van Leeuwenhoek}, volume = {106}, number = {1}, pages = {141-156}, pmid = {24748373}, issn = {1572-9699}, mesh = {Bacteria/classification/*genetics/isolation &amp; purification/metabolism ; Biomedical Research/*history ; Canthaxanthin/history ; Genomics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Probiotics/chemistry/*history ; }, abstract = {For thousands of years, humans have safely consumed microorganisms through fermented foods. Many of these bacteria are considered probiotics, which act through diverse mechanisms to confer a health benefit to the host. However, it was not until the availability of whole-genome sequencing and the era of genomics that mechanisms of probiotic efficacy could be discovered. In this review, we explore the history of the probiotic concept and the current standard of integrated genomic techniques to discern the complex, beneficial relationships between probiotic microbes and their hosts.}, }
@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 {pmid24746242, year = {2014}, author = {Bennett, MJ}, title = {Interview with Malcolm J. Bennett.}, journal = {Trends in plant science}, volume = {19}, number = {5}, pages = {273-274}, doi = {10.1016/j.tplants.2014.03.007}, pmid = {24746242}, issn = {1878-4372}, mesh = {Botany/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/history ; Systems Biology/*history ; United Kingdom ; }, }
@article {pmid24735915, year = {2014}, author = {Williams, KL and Gooley, AA and Wilkins, MR and Packer, NH}, title = {A Sydney proteome story.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {13-23}, doi = {10.1016/j.jprot.2014.04.006}, pmid = {24735915}, issn = {1876-7737}, mesh = {Anniversaries and Special Events ; Australia ; History, 20th Century ; History, 21st Century ; Humans ; *Proteome ; Proteomics/*history/*methods/trends ; }, abstract = {This is the story of the experience of a multidisciplinary group at Macquarie University in Sydney as we participated in, and impacted upon, major currents that washed through protein science as the field of Proteomics emerged. The large scale analysis of proteins became possible. This is not a history of the field. Instead we have tried to encapsulate the stimulating personal ride we had transiting from conventional academe, to a Major National Research Facility, to the formation of Proteomics company Proteome Systems Ltd. There were lots of blind alleys, wrong directions, but we also got some things right and our efforts, along with those of many other groups around the world, did change the face of protein science. While the transformation is by no means yet complete, protein science is very different from the field in the 1990s. 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 {pmid24732725, year = {2014}, author = {Forler, S and Klein, O and Klose, J}, title = {Individualized proteomics.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {56-61}, doi = {10.1016/j.jprot.2014.04.003}, pmid = {24732725}, issn = {1876-7737}, mesh = {Anniversaries and Special Events ; Female ; Gene-Environment Interaction ; History, 20th Century ; History, 21st Century ; Humans ; Male ; *Polymorphism, Single Nucleotide ; Precision Medicine/history/*methods ; *Proteome/genetics/metabolism ; Proteomics/history/*methods ; }, abstract = {Human individuals differ from one another in almost all of their genes due to single nucleotide polymorphisms (SNPs). When the maternal and the paternal genomes become combined in a F1 individual, the two alleles of each gene represent arbitrary combinations. In consequence, individuals show high variability in protein expression. Furthermore, within a proteome, the proteins form networks of protein-protein interactions. These networks differ between individuals in robustness against genetic or/and environmental perturbation due to polymorphisms, which differ in type and composition between individuals, and modify the arrangement of proteins in the proteomic network. As a general conclusion, the robustness of a human individual against diseases may depend on the structure and expression of the protein-protein interaction network that varies in its functional efficiency between individuals due to &quot;network-polymorphisms&quot;. 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 {pmid24732330, year = {2014}, author = {Norris, DA}, title = {George W. Hambrick Jr (1922-2013).}, journal = {The Journal of investigative dermatology}, volume = {134}, number = {5}, pages = {1190-1191}, doi = {10.1038/jid.2014.125}, pmid = {24732330}, issn = {1523-1747}, mesh = {Dermatology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; National Institute of Arthritis and Musculoskeletal and Skin Diseases (U.S.)/*history ; Societies, Medical/*history ; United States ; }, }
@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: &quot;20years of Proteomics&quot; in memory of Viatliano Pallini&quot; Guest Editors: Luca Bini, Juan J. Calvete, Natacha Turck, Denis Hochstrasser and Jean-Charles Sanchez.}, }
@article {pmid24723418, year = {2014}, author = {Nei, M}, title = {My memory of Walter Fitch (1929-2011) and starting molecular biology and evolution.}, journal = {Molecular biology and evolution}, volume = {31}, number = {6}, pages = {1329-1332}, pmid = {24723418}, issn = {1537-1719}, mesh = {*Biological Evolution ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Phylogeny ; United States ; }, }
@article {pmid24711456, year = {2014}, author = {Friedberg, EC}, title = {Master molecule, heal thyself.}, journal = {The Journal of biological chemistry}, volume = {289}, number = {20}, pages = {13691-13700}, pmid = {24711456}, issn = {1083-351X}, mesh = {Bacteriophage T4/enzymology ; Cockayne Syndrome/genetics ; DNA/biosynthesis/genetics/metabolism ; DNA Damage ; DNA Glycosylases/metabolism ; *DNA Repair ; Deoxyribonuclease I/metabolism ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Skin Neoplasms/complications ; Transcription, Genetic ; Xeroderma Pigmentosum/complications/genetics ; }, }
@article {pmid24709640, year = {2014}, author = {Legrain, P and Rain, JC}, title = {Twenty years of protein interaction studies for biological function deciphering.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {93-97}, doi = {10.1016/j.jprot.2014.03.038}, pmid = {24709640}, issn = {1876-7737}, mesh = {Animals ; Anniversaries and Special Events ; *Computational Biology/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Mass Spectrometry/history/methods ; *Proteins/chemistry/genetics/metabolism ; *Proteomics/history/methods ; }, abstract = {Intensive methodological developments and technology innovation have been devoted to protein-protein interaction studies over 20years. Genetic indirect assays and sophisticated large scale biochemical analyses have jointly contributed to the elucidation of protein-protein interactions, still with a lot of drawbacks despite heavy investment in human resources and technologies. With the most recent developments in mass spectrometry and computational tools for studying protein content of complex samples, the initial goal of deciphering molecular bases of biological functions is now within reach. Here, we described the various steps of this process and gave examples of key milestones in this scientific story line. 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 {pmid24688004, year = {2014}, author = {Collier, R}, title = {Canada Gairdner Awards honour exceptional medical research.}, journal = {CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne}, volume = {186}, number = {8}, pages = {E231-2}, doi = {10.1503/cmaj.109-4769}, pmid = {24688004}, issn = {1488-2329}, mesh = {Allergy and Immunology/history ; Antibodies, Monoclonal, Humanized/history ; *Awards and Prizes ; Bevacizumab ; Biomedical Research/*history ; Canada ; Genetics/history ; Global Health/*history ; History, 21st Century ; Humans ; Rheumatology/history ; United Kingdom ; United States ; }, }
@article {pmid24674631, year = {2014}, author = {de Wind, N and Buermeyer, AB and Hanawalt, PC}, title = {In memory of John Bruce Hays (1937-2014).}, journal = {DNA repair}, volume = {16}, number = {}, pages = {vi-vii}, doi = {10.1016/S1568-7864(14)00071-8}, pmid = {24674631}, issn = {1568-7856}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Microbiology/*history ; Molecular Biology/*history ; United States ; }, }
@article {pmid24658215, year = {2016}, author = {Asadollahi, R}, title = {Inspirations in medical genetics.}, journal = {Journal of medical biography}, volume = {24}, number = {1}, pages = {138-140}, doi = {10.1177/0967772014525097}, pmid = {24658215}, issn = {1758-1087}, mesh = {Genetic Diseases, Inborn/*history ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead.}, }
@article {pmid24657497, year = {2014}, author = {Rabilloud, T}, title = {Paleoproteomics explained to youngsters: how did the wedding of two-dimensional electrophoresis and protein sequencing spark proteomics on: let there be light.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {5-12}, doi = {10.1016/j.jprot.2014.03.011}, pmid = {24657497}, issn = {1876-7737}, mesh = {Electrophoresis, Gel, Two-Dimensional/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Proteomics/*history/*methods ; Sequence Analysis, Protein/*history/*methods ; }, abstract = {UNLABELLED: Taking the opportunity of the 20th anniversary of the word &quot;proteomics&quot;, this young adult age is a good time to remember how proteomics came from enormous progress in protein separation and protein microanalysis techniques, and from the conjugation of these advances into a high performance and streamlined working setup. However, in the history of the almost three decades that encompass the first attempts to perform large scale analysis of proteins to the current high throughput proteomics that we can enjoy now, it is also interesting to underline and to recall how difficult the first decade was. Indeed when the word was cast, the battle was already won. This recollection is mostly devoted to the almost forgotten period where proteomics was being conceived and put to birth, as this collective scientific work will never appear when searched through the keyword &quot;proteomics&quot;.<br><br>BIOLOGICAL SIGNIFICANCE: The significance of this manuscript is to recall and review the two decades that separated the first attempts of performing large scale analysis of proteins from the solid technical corpus that existed when the word &quot;proteomics&quot; was coined twenty years ago. This recollection is made within the scientific historical context of this decade, which also saw the blossoming of DNA cloning and sequencing. This article is part of a Special Issue entitled: 20 years of Proteomics in memory of Viatliano Pallini. Guest Editors: Luca Bini , Juan J. Calvete, Natacha Turck, Denis Hochstrasser and Jean-Charles Sanchez.}, }
@article {pmid24649998, year = {2014}, author = {Ozdemir, V and Endrenyi, L and Aynacıoğlu, S and Bragazzi, NL and Dandara, C and Dove, ES and Ferguson, LR and Geraci, CJ and Hafen, E and Kesim, BE and Kolker, E and Lee, EJ and Llerena, A and Nacak, M and Shimoda, K and Someya, T and Srivastava, S and Tomlinson, B and Vayena, E and Warnich, L and Yaşar, U}, title = {Bernard Lerer: recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association for Clinical Pharmacogenetics).}, journal = {Omics : a journal of integrative biology}, volume = {18}, number = {4}, pages = {211-221}, pmid = {24649998}, issn = {1557-8100}, mesh = {*Awards and Prizes ; Genomics/*history ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; Israel ; Pharmacogenetics/*history ; Precision Medicine/*history ; }, abstract = {This article announces the recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine by the Pacific Rim Association for Clinical Pharmacogenetics (PRACP): Bernard Lerer, professor of psychiatry and director of the Biological Psychiatry Laboratory, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. The Werner Kalow Responsible Innovation Prize is given to an exceptional interdisciplinary scholar who has made highly innovative and enduring contributions to global omics science and personalized medicine, with both vertical and horizontal (transdisciplinary) impacts. The prize is established in memory of a beloved colleague, mentor, and friend, the late Professor Werner Kalow, who cultivated the idea and practice of pharmacogenetics in modern therapeutics commencing in the 1950s. PRACP, the prize's sponsor, is one of the longest standing learned societies in the Asia-Pacific region, and was founded by Kalow and colleagues more than two decades ago in the then-emerging field of pharmacogenetics. In announcing this inaugural prize and its winner, we seek to highlight the works of prize winner, Professor Lerer. Additionally, we contextualize the significance of the prize by recalling the life and works of Professor Kalow and providing a brief socio-technical history of the rise of pharmacogenetics and personalized medicine as a veritable form of 21(st) century scientific practice. The article also fills a void in previous social science analyses of pharmacogenetics, by bringing to the fore the works of Kalow from 1995 to 2008, when he presciently noted the rise of yet another field of postgenomics inquiry--pharmacoepigenetics--that railed against genetic determinism and underscored the temporal and spatial plasticity of genetic components of drug response, with invention of the repeated drug administration (RDA) method that estimates the dynamic heritabilities of drug response. The prize goes a long way to cultivate transgenerational capacity and broader cognizance of the concept and practice of responsible innovation as an important criterion of 21(st) century omics science and personalized medicine. A new call is presently in place for the 2016 PRACP Werner Kalow prize. Nominations can be made in support of an exceptional individual interdisciplinary scholar, or alternatively, an entire research team, from any region in the world with a record of highly innovative contributions to global omics science and/or personalized medicine, in the spirit of responsible innovation. The application process is straightforward, requiring a signed, 1500-word nomination letter (by the applicant or sponsor) submitted not later than May 31, 2015.}, }
@article {pmid24649618, year = {2013}, author = {Fando, RA}, title = {[The role of S.N. Davidenkov School in becoming of national neuro-genetics].}, journal = {Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny}, volume = {}, number = {6}, pages = {51-54}, pmid = {24649618}, issn = {0869-866X}, mesh = {Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; Nervous System Diseases/genetics/*history ; Russia ; Schools, Medical/history ; }, abstract = {The article considers the biography of prominent Russian scientist, full member of the Academy of medical sciences of the USSR Sergei Nikolayevitch Davidenkov studying genetics of nervous diseases. The main directions of activities of the scientific school created by him are analyzed. The significance of this school in development of biology and medicine is established. The staff organizational structure, specificity of considered scientific school are established. The role of leader in organization of non-formal research community and development of scientific program is demonstrated. It is marked that in solution of many fundamental and practical tasks of medical genetics an immense merit belonged to scientific schools as a &quot;strong side&quot; of national science of the first half of XX century.}, }
@article {pmid24642887, year = {2014}, author = {Thompson, MJ and Jiggins, CD}, title = {Supergenes and their role in evolution.}, journal = {Heredity}, volume = {113}, number = {1}, pages = {1-8}, pmid = {24642887}, issn = {1365-2540}, support = {BB/H01439X/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Adaptation, Biological/*genetics ; Genetic Linkage/*genetics ; Genetic Loci/*genetics ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; *Models, Genetic ; *Phenotype ; Polymorphism, Genetic/*genetics ; *Selection, Genetic ; }, abstract = {Adaptation is commonly a multidimensional problem, with changes in multiple traits required to match a complex environment. This is epitomized by balanced polymorphisms in which multiple phenotypes co-exist and are maintained in a population by a balance of selective forces. Consideration of such polymorphisms led to the concept of the supergene, where alternative phenotypes in a balanced polymorphism segregate as if controlled by a single genetic locus, resulting from tight genetic linkage between multiple functional loci. Recently, the molecular basis for several supergenes has been resolved. Thus, major chromosomal inversions have been shown to be associated with polymorphisms in butterflies, ants and birds, offering a mechanism for localised reduction in recombination. In several examples of plant self-incompatibility, the functional role of multiple elements within the supergene architecture has been demonstrated, conclusively showing that balanced polymorphism can be maintained at multiple coadapted and tightly linked elements. Despite recent criticism, we argue that the supergene concept remains relevant and is more testable than ever with modern molecular methods.}, }
@article {pmid24642211, year = {2014}, author = {Anderson, L}, title = {Six decades searching for meaning in the proteome.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {24-30}, doi = {10.1016/j.jprot.2014.03.005}, pmid = {24642211}, issn = {1876-7737}, mesh = {Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; *Proteome ; Proteomics/*history/*methods ; }, abstract = {This review describes one thread in a fabric of developments leading to the present state of proteomics, stretching over 60years and ending with a prediction for 2024. While composed largely of personal reminiscences, the story offers some instructive successes and failures, and appears to be nearing the long-sought goal of deep insights into real biology. This article is part of a Special Issue entitled: 20 Years of Proteomics in memory of Viatliano Pallini. Guest Editors: Luca Bini , Juan J. Calvete, Natacha Turck, Denis Hochstrasser and Jean-Charles Sanchez.}, }
@article {pmid24639214, year = {2014}, author = {Stinski, MF}, title = {History of the molecular biology of cytomegaloviruses.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1119}, number = {}, pages = {1-14}, doi = {10.1007/978-1-62703-788-4_1}, pmid = {24639214}, issn = {1940-6029}, mesh = {Cloning, Molecular ; Cytomegalovirus/*genetics/pathogenicity ; Cytomegalovirus Infections/genetics/*virology ; DNA, Viral/*genetics ; Gene Expression Regulation, Viral ; History, 20th Century ; Molecular Biology/history/*methods ; Promoter Regions, Genetic ; }, abstract = {The history of the molecular biology of cytomegaloviruses from the purification of the virus and the viral DNA to the cloning and expression of the viral genes is reviewed. A key genetic element of cytomegalovirus (the CMV promoter) contributed to our understanding of eukaryotic cell molecular biology and to the development of lifesaving therapeutic proteins. The study of the molecular biology of cytomegaloviruses also contributed to the development of antivirals to control the viral infection.}, }
@article {pmid24631826, year = {2014}, author = {Elia, G and Fugmann, T and Neri, D}, title = {From target discovery to clinical trials with armed antibody products.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {50-55}, doi = {10.1016/j.jprot.2014.02.034}, pmid = {24631826}, issn = {1876-7737}, mesh = {Animals ; *Antibodies, Neoplasm/immunology/therapeutic use ; *Antibody Formation ; Biomarkers, Tumor/*immunology ; Clinical Trials as Topic ; *Drug Delivery Systems/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; *Proteomics/history/methods ; }, abstract = {UNLABELLED: Conventional chemotherapy of serious conditions (e.g., cancer and chronic inflammatory diseases) relies on the use of potent bioactive agents, which do not preferentially localize at the site of disease and which may harm healthy tissues. Intense pharmaceutical research efforts are being devoted to the development of targeted therapeutic agents, capable of selectively homing to diseased tissues, while sparing normal body structures. Biological mass spectrometry and chemical proteomics have revolutionized the way targets for ligand-based pharmacodelivery applications are discovered. In this article, we present a personal account on research activities in the field for the last decade, outlining our experience in the discovery of accessible biomarkers and in the development of potent targeted therapeutic agents.<br><br>BIOLOGICAL SIGNIFICANCE: The present review discusses evolution of proteomic methodologies applied to the discovery of new targets for therapeutic intervention in cancer and inflammatory diseases. Chemical proteomics-driven target discovery allowed the development of new classes of antibody-based targeting biologics, which are having an impact in the oncological and chronic inflammation clinical research. 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 {pmid24623431, year = {2014}, author = {Spindler, KR and Semler, BL}, title = {In memoriam John J. Holland (1929-2013): a pioneer in molecular virology.}, journal = {Journal of virology}, volume = {88}, number = {11}, pages = {5903-5905}, pmid = {24623431}, issn = {1098-5514}, support = {R01 AI091721/AI/NIAID NIH HHS/United States ; }, mesh = {*Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA Viruses/*genetics ; Virology/*history ; }, }
@article {pmid24619573, year = {2014}, author = {Manolio, TA and Green, ED}, title = {Leading the way to genomic medicine.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {166C}, number = {1}, pages = {1-7}, doi = {10.1002/ajmg.c.31384}, pmid = {24619573}, issn = {1552-4876}, mesh = {Genetics, Medical/*history/*methods/trends ; Genomics/*methods/trends ; High-Throughput Nucleotide Sequencing/*methods ; History, 21st Century ; Humans ; National Human Genome Research Institute (U.S.) ; Research/*trends ; United States ; }, abstract = {The National Human Genome Research Institute, in close collaboration with its research community, is pursuing an ambitious research agenda to facilitate and promote the implementation of genomics in clinical care. Since 2011, research programs utilizing next-generation sequencing in the management of cancer and other multigenic conditions, workup of undiagnosed conditions, and evaluation of disorders of the newborn period have been initiated, along with projects identifying clinically actionable variants and exploring the ethical and social implications of reporting these findings. Several genomic medicine symposia and other consultations have helped to shape these research initiatives and develop educational materials for physicians and others working to implement the use of genomic findings in clinical care. These efforts provide a valuable complement to the highly successful basic genomics research enterprise that has at last enabled the transition of genomics from the bench to the bedside.}, }
@article {pmid24609032, year = {2014}, author = {Mardis, E and Dhillon, P}, title = {Revolutionizing cancer care with next-generation sequencing: an interview with Elaine Mardis.}, journal = {Disease models &amp; mechanisms}, volume = {7}, number = {3}, pages = {313-317}, doi = {10.1242/dmm.015396}, pmid = {24609032}, issn = {1754-8411}, mesh = {Animals ; Genome, Human/genetics ; High-Throughput Nucleotide Sequencing/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Models, Animal ; Molecular Biology/*history ; Neoplasms/*genetics/*therapy ; }, }
@article {pmid24607386, year = {2014}, author = {Moran, JV}, title = {2013 Curt Stern Award Address.}, journal = {American journal of human genetics}, volume = {94}, number = {3}, pages = {340-348}, pmid = {24607386}, issn = {1537-6605}, mesh = {Animals ; Awards and Prizes ; Genetics, Medical/*history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Retroelements ; United States ; }, }
@article {pmid24607384, year = {2014}, author = {Hirschhorn, K and Hirschhorn, R}, title = {2013 Victor A. McKusick Leadership Award Addresses.}, journal = {American journal of human genetics}, volume = {94}, number = {3}, pages = {336-337}, pmid = {24607384}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history/*organization &amp; administration ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; }, }
@article {pmid24607382, year = {2014}, author = {Chakravarti, A}, title = {2013 William Allan Award: My multifactorial journey.}, journal = {American journal of human genetics}, volume = {94}, number = {3}, pages = {326-333}, pmid = {24607382}, issn = {1537-6605}, mesh = {Genetic Linkage ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; India ; Statistics as Topic/history ; United States ; }, }
@article {pmid24607380, year = {2014}, author = {Murray, JC}, title = {2013 Presidential Address: Just another president's speech (but it's all about you).}, journal = {American journal of human genetics}, volume = {94}, number = {3}, pages = {319-323}, pmid = {24607380}, issn = {1537-6605}, mesh = {Boston ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Societies, Medical ; }, }
@article {pmid24588512, year = {2014}, author = {Hokland, P}, title = {Janet Rowley 1925-2013: a rock star of haematology and genetics.}, journal = {British journal of haematology}, volume = {165}, number = {3}, pages = {269-270}, doi = {10.1111/bjh.12808}, pmid = {24588512}, issn = {1365-2141}, mesh = {Genetics/*history ; Hematology/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid24581658, year = {2014}, author = {Watts, G}, title = {James Watson: thinking outside the genome.}, journal = {Lancet (London, England)}, volume = {383}, number = {9919}, pages = {775}, doi = {10.1016/S0140-6736(14)60393-7}, pmid = {24581658}, issn = {1474-547X}, mesh = {Antioxidants/physiology ; Base Pairing ; DNA/*history ; England ; Genetics/*history ; *Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*history ; }, }
@article {pmid24570258, year = {2014}, author = {}, title = {Quantitative heredity.}, journal = {JAMA}, volume = {311}, number = {8}, pages = {866}, doi = {10.1001/jama.2013.279355}, pmid = {24570258}, issn = {1538-3598}, mesh = {Animals ; Evolution, Molecular ; Genetics/*history ; History, 19th Century ; Humans ; Models, Genetic ; *Quantitative Trait, Heritable ; }, }
@article {pmid24568796, year = {2014}, author = {O'Farrell, PH}, title = {Two-dimensional gel electrophoresis and the beginning of proteomics.}, journal = {Clinical chemistry}, volume = {60}, number = {7}, pages = {1012-1013}, doi = {10.1373/clinchem.2014.221630}, pmid = {24568796}, issn = {1530-8561}, mesh = {Colorado ; Electrophoresis, Gel, Two-Dimensional/*history ; History, 20th Century ; Proteomics/*history ; }, }
@article {pmid24565976, year = {2014}, author = {Onaga, LA}, title = {Ray Wu as Fifth Business: Deconstructing collective memory in the history of DNA sequencing.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {46}, number = {}, pages = {1-14}, doi = {10.1016/j.shpsc.2013.12.006}, pmid = {24565976}, issn = {1879-2499}, mesh = {Genetics/*history ; History, 20th Century ; Sequence Analysis, DNA/*history ; United States ; }, abstract = {The concept of 'Fifth Business' is used to analyze a minority standpoint and bring serious attention to the role of scientists who play a galvanizing role in a science but for multiple reasons appear less prominently in more common recounts of any particular development. Biochemist Ray Wu (1928-2008) published a DNA sequencing experiment in March 1970 using DNA polymerase catalysis and specific nucleotide labeling, both of which are foundational to general sequencing methods today. The scant mention of Wu's work from textbooks, research articles, and other accounts of DNA sequencing calls into question how scientific collective memory forms. This alternative history seeks to understand why a key figure in nucleic acid sequence analysis has remained less visibly connected or peripheral to solidifying narratives about the history of DNA sequencing. The study resists predictable dismissals of Wu's work in order to seriously examine the formation of his nucleic acid sequence analysis research program and how he shared his knowledge of sequencing during a period of rapid advancement in the field. An analysis of Wu's work on sequencing the cohesive ends of lambda bacteriophage in the 1960s and 1970s exemplifies how a variety of individuals and groups attempted to develop protocol for sequencing the order of nucleotide base pairs comprising DNA. This historical examination of the sociality of scientific research suggests a way to understand how Wu and others contributed to the very collective memory of DNA sequencing that Wu eventually tried to repair. The study of Wu, who was a Chinese immigrant to the United States, provides a foundation for further critical scholarship on the heterogeneous histories of Asian American bioscientists, the sociality of their scientific works, and how the resulting knowledge produced is preserved, if not evenly, in a scientific field's collective memory.}, }
@article {pmid24532658, year = {2014}, author = {Rajewsky, K}, title = {Michael S. Neuberger 1953-2013.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {8}, pages = {2862-2863}, pmid = {24532658}, issn = {1091-6490}, mesh = {Antibodies/*immunology ; History, 20th Century ; History, 21st Century ; Hybridomas/*immunology ; Molecular Biology/*history ; }, }
@article {pmid24531949, year = {2014}, author = {Pain, E}, title = {History of science. After more than 50 years, a dispute over Down syndrome discovery.}, journal = {Science (New York, N.Y.)}, volume = {343}, number = {6172}, pages = {720-721}, doi = {10.1126/science.343.6172.720}, pmid = {24531949}, issn = {1095-9203}, mesh = {Awards and Prizes ; Cytogenetics/*history ; Down Syndrome/*history ; France ; History, 20th Century ; History, 21st Century ; Humans ; Sexism/*history ; Women/*history ; }, }
@article {pmid24509925, year = {2014}, author = {Appelt, S and Fancello, L and Le Bailly, M and Raoult, D and Drancourt, M and Desnues, C}, title = {Viruses in a 14th-century coprolite.}, journal = {Applied and environmental microbiology}, volume = {80}, number = {9}, pages = {2648-2655}, pmid = {24509925}, issn = {1098-5336}, mesh = {Bacteriophages/classification/genetics/isolation &amp; purification/ultrastructure ; Belgium ; Feces/*virology ; Fossils/history/*virology ; History, Medieval ; Humans ; Metagenomics/history ; Microbiota ; Molecular Sequence Data ; Phylogeny ; Viruses/classification/genetics/*isolation &amp; purification/ultrastructure ; }, abstract = {Coprolites are fossilized fecal material that can reveal information about ancient intestinal and environmental microbiota. Viral metagenomics has allowed systematic characterization of viral diversity in environmental and human-associated specimens, but little is known about the viral diversity in fossil remains. Here, we analyzed the viral community of a 14th-century coprolite from a closed barrel in a Middle Ages site in Belgium using electron microscopy and metagenomics. Viruses that infect eukaryotes, bacteria, and archaea were detected, and we confirmed the presence of some of them by ad hoc suicide PCR. The coprolite DNA viral metagenome was dominated by sequences showing homologies to phages commonly found in modern stools and soil. Although their phylogenetic compositions differed, the metabolic functions of the viral communities have remained conserved across centuries. Antibiotic resistance was one of the reconstructed metabolic functions detected.}, }
@article {pmid24503847, year = {2014}, author = {Greaves, M}, title = {Retrospective. Janet Rowley (1925-2013).}, journal = {Science (New York, N.Y.)}, volume = {343}, number = {6171}, pages = {626}, doi = {10.1126/science.1251005}, pmid = {24503847}, issn = {1095-9203}, mesh = {Chicago ; Chromosome Banding/history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics/*history ; Translocation, Genetic ; }, }
@article {pmid24502764, year = {2013}, author = {Mayer, BJ}, title = {Tony Pawson and the germination and flowering of cell signaling: an appreciation.}, journal = {BMC biology}, volume = {11}, number = {}, pages = {95}, doi = {10.1186/1741-7007-11-95}, pmid = {24502764}, issn = {1741-7007}, mesh = {Avian Sarcoma Viruses/genetics ; Biochemistry/history ; Genetics/history ; History, 20th Century ; History, 21st Century ; Neoplasms/*genetics ; Proto-Oncogene Proteins c-fes/chemistry/*genetics ; *Signal Transduction ; Virology/history ; }, }
@article {pmid24501770, year = {2013}, author = {Brownlee, GG}, title = {Frederick Sanger (1918-2013).}, journal = {Current biology : CB}, volume = {23}, number = {24}, pages = {R1074-6}, doi = {10.1016/j.cub.2013.11.037}, pmid = {24501770}, issn = {1879-0445}, mesh = {History, 20th Century ; Molecular Biology/*history ; Nobel Prize ; Sequence Analysis, DNA/history/methods ; Sequence Analysis, Protein/history/methods ; }, }
@article {pmid24500932, year = {2014}, author = {Davis, CD and Bailey, RL and Dwyer, JT and Coates, PM}, title = {John Austin Milner, PhD (1947-2013).}, journal = {The Journal of nutrition}, volume = {144}, number = {4}, pages = {411-413}, pmid = {24500932}, issn = {1541-6100}, mesh = {*Agriculture/education ; Antineoplastic Agents, Phytogenic/analysis/*therapeutic use ; Dietary Supplements ; Food Technology/education/history ; *Functional Food/analysis ; Garlic/chemistry/growth &amp; development/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; National Cancer Institute (U.S.) ; Neoplasms/prevention &amp; control ; Nutrigenomics/education/history ; Nutritional Sciences/education/*history ; Pennsylvania ; Selenium/metabolism ; United States ; United States Department of Agriculture ; }, }
@article {pmid24499787, year = {2014}, author = {Morange, M}, title = {What history tells us XXXIII. Molecular hybridization: a problematic tool for the study of differentiation and development (1960-1980).}, journal = {Journal of biosciences}, volume = {39}, number = {1}, pages = {29-32}, pmid = {24499787}, issn = {0973-7138}, mesh = {Cell Differentiation/*physiology ; Growth and Development/*physiology ; History, 20th Century ; Molecular Biology/*history ; Nucleic Acid Hybridization/*methods ; }, }
@article {pmid24498979, year = {2014}, author = {Powell, JR and Besansky, NJ and della Torre, A and Petrarca, V}, title = {Mario Coluzzi (1938-2012).}, journal = {Malaria journal}, volume = {13}, number = {}, pages = {10}, pmid = {24498979}, issn = {1475-2875}, support = {R01 AI101112/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Biological Evolution ; Culicidae/genetics/physiology ; Entomology/*history ; Epidemiology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Italy ; Malaria/*history/parasitology/transmission ; }, }
@article {pmid24493584, year = {2014}, author = {Leyser, O and Sedwick, C}, title = {Ottoline Leyser: the beauty of plant genetics. Interviewed by Caitlin Sedwick.}, journal = {The Journal of cell biology}, volume = {204}, number = {3}, pages = {284-285}, pmid = {24493584}, issn = {1540-8140}, mesh = {Arabidopsis/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Plants/*genetics ; United Kingdom ; }, }
@article {pmid24477932, year = {2014}, author = {Neale, MC}, title = {Latent classiness and other mixtures.}, journal = {Behavior genetics}, volume = {44}, number = {3}, pages = {205-211}, pmid = {24477932}, issn = {1573-3297}, support = {R25 DA026119/DA/NIDA NIH HHS/United States ; DA-18673/DA/NIDA NIH HHS/United States ; DA-26119/DA/NIDA NIH HHS/United States ; R37 DA018673/DA/NIDA NIH HHS/United States ; R01 DA018673/DA/NIDA NIH HHS/United States ; }, mesh = {Adolescent ; Adolescent Behavior/history ; Genetic Association Studies/*history ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Genetic ; Twin Studies as Topic/*history ; United States ; }, abstract = {The aim of this article is to laud Lindon Eaves' role in the development of mixture modeling in genetic studies. The specification of models for mixture distributions was very much in its infancy when Professor Eaves implemented it in his own FORTRAN programs, and extended it to data collected from relatives such as twins. It was his collaboration with the author of this article which led to the first implementation of mixture distribution modeling in a general-purpose structural equation modeling program, Mx, resulting in a 1996 article on linkage analysis in Behavior Genetics. Today, the popularity of these methods continues to grow, encompassing methods for genetic association, latent class analysis, growth curve mixture modeling, factor mixture modeling, regime switching, marginal maximum likelihood, genotype by environment interaction, variance component twin modeling in the absence of zygosity information, and many others. This primarily historical article concludes with some consideration of some possible future developments.}, }
@article {pmid24473278, year = {2014}, author = {Celis, JE}, title = {A personal account of the early stages of proteomics at Aarhus University.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {31-38}, doi = {10.1016/j.jprot.2014.01.021}, pmid = {24473278}, issn = {1876-7737}, mesh = {Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Proteomics/*history/*methods ; }, abstract = {This article is part of a Special Issue entitled: 20 years of Proteomics in memory of Viatliano Pallini. Guest Editors: Luca Bini, Juan J. Calvete, Natacha Turck, Denis Hochstrasser and Jean-Charles Sanchez.}, }
@article {pmid24466635, year = {2013}, author = {Sarkar, S}, title = {Mayr's recollections of Haldane: a document with brief commentary.}, journal = {History and philosophy of the life sciences}, volume = {35}, number = {2}, pages = {265-275}, pmid = {24466635}, issn = {0391-9714}, mesh = {Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Models, Genetic ; }, }
@article {pmid24466631, year = {2013}, author = {Loison, L}, title = {Monod before Monod: enzymatic adaptation, Lwoff, and the legacy of general biology.}, journal = {History and philosophy of the life sciences}, volume = {35}, number = {2}, pages = {167-192}, pmid = {24466631}, issn = {0391-9714}, mesh = {Bacteria/growth &amp; development ; *Bacterial Physiological Phenomena ; Enzymes/*physiology ; France ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {For most of his scientific career, Jacques Monod appeared to be a man of a single problem: the formation of enzymes and the regulation of their properties. His ability to produce theoretical models led him to play a major role in both the discovery of the operon regulation and the model of allosteric transitions. The successes of Monod, from the 1950s to the Noble Prize (1965), are already well documented. In this paper, I will focus on the Monod before Monod, that is, the Monod who, during the 1940s, tried to explain the fundamental phenomenon of enzymatic adaptation. To begin with, however, I will survey how this phenomenon was discovered and explained by French Pasteurians at the very beginning of the twentieth century. This first explanation took place amidst an entrenched Lamarckian atmosphere in French thought, which was still alive during the 1920s and the 1930s, when Monod commenced the study of biology at the Sorbonne. Because of his will to construct a scientific biology free from teleology, Monod always tried to break from the legacy of this traditional background of Lamarckism, and he consequently developed ways of thinking that, in the main, were not part of the French biological tradition. Nevertheless, one point did link Monod to French history: his fruitful interactions with André Lwoff. As we shall see, these interactions were necessary for the development of Monod's science, both technically and intellectually speaking.}, }
@article {pmid24465180, year = {2014}, author = {Poczai, P and Bell, N and Hyvönen, J}, title = {Imre Festetics and the Sheep Breeders' Society of Moravia: Mendel's Forgotten &quot;Research Network&quot;.}, journal = {PLoS biology}, volume = {12}, number = {1}, pages = {e1001772}, pmid = {24465180}, issn = {1545-7885}, mesh = {Animals ; Breeding/*history ; Czech Republic ; Female ; Genetics/*history ; Heredity ; History, 18th Century ; History, 19th Century ; Humans ; Hungary ; Male ; Models, Genetic ; Peas/genetics ; Sheep/*genetics ; Wool/chemistry/*history ; }, abstract = {Contemporary science thrives on collaborative networks, but these can also be found elsewhere in the history of science in unexpected places. When Mendel turned his attention to inheritance in peas he was not an isolated monk, but rather the latest in a line of Moravian researchers and agriculturalists who had been thinking about inheritance for half a century. Many of the principles of inheritance had already been sketched out by Imre Festetics, a Hungarian sheep breeder active in Brno. Festetics, however, was ultimately hindered by the complex nature of his study traits, aspects of wool quality that we now know to be polygenic. Whether or not Mendel was aware of Festetics’s ideas,both men were products of the same vibrant milieu in 19th-century Moravia that combined theory and agricultural practice to eventually uncover the rules of inheritance.}, }
@article {pmid24456972, year = {2014}, author = {Cobb, M}, title = {Oswald Avery, DNA, and the transformation of biology.}, journal = {Current biology : CB}, volume = {24}, number = {2}, pages = {R55-60}, doi = {10.1016/j.cub.2013.11.060}, pmid = {24456972}, issn = {1879-0445}, mesh = {DNA/*genetics ; Genetics/*history ; History, 20th Century ; United States ; }, abstract = {Seventy years ago, Oswald Avery and his colleagues from the Rockefeller Institute published the first evidence that genes are made of DNA. Their discovery was received with a mixture of enthusiasm, suspicion and perplexity. In this article, I trace the reasons for these different responses, and show how we need to revise our usual explanations of what finally convinced everyone that the Avery group was right.}, }
@article {pmid24452261, year = {2014}, author = {Urban, TJ and Goldstein, DB}, title = {Pharmacogenetics at 50: genomic personalization comes of age.}, journal = {Science translational medicine}, volume = {6}, number = {220}, pages = {220ps1}, doi = {10.1126/scitranslmed.3005237}, pmid = {24452261}, issn = {1946-6242}, mesh = {Clinical Trials as Topic ; Drug Discovery ; Gene Frequency ; Genome, Human ; Genomics/economics/*history ; Hepatitis C/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Hypercholesterolemia/genetics ; Mutation ; Pharmacogenetics/economics/*history ; }, abstract = {The study of the genetics of drug responses has a long history but has provided only a few examples of gene variants that are relevant clinically. Here, we discuss the current state of the pharmacogenomics field with emphasis on the potential of data generated through drug development in order to shed new light on genetic variants predictive of therapeutic outcomes-and likewise the potential of pharmacogenomics to improve clinical trial design. We note some examples in which data from clinical trials have already provided clear pharmacogenomic insights and suggest ways in which genomic technology might be used successfully in drug development.}, }
@article {pmid24451535, year = {2014}, author = {Druker, BJ}, title = {Janet Rowley (1925-2013).}, journal = {Nature}, volume = {505}, number = {7484}, pages = {484}, pmid = {24451535}, issn = {1476-4687}, mesh = {Benzamides/therapeutic use ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Imatinib Mesylate ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy/genetics/pathology ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Promyelocytic, Acute/drug therapy/genetics ; Neoplasms/*genetics/history ; Piperazines/therapeutic use ; Pyrimidines/therapeutic use ; Translocation, Genetic/*genetics ; United States ; }, }
@article {pmid24450809, year = {2014}, author = {Potten, CS}, title = {Obituary: Professor Christopher Stanislaus Potten BSc, PhD, DSc 1940-2012.}, journal = {Cell proliferation}, volume = {47}, number = {1}, pages = {1-2}, doi = {10.1111/cpr.12088}, pmid = {24450809}, issn = {1365-2184}, mesh = {Cell Biology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; United Kingdom ; }, }
@article {pmid24450265, year = {2013}, author = {Brajusković, G and Pavicćević, DS and Romac, S}, title = {The 60th anniversary of the discovery of DNA secondary structure.}, journal = {Vojnosanitetski pregled}, volume = {70}, number = {12}, pages = {1165-1170}, pmid = {24450265}, issn = {0042-8450}, mesh = {DNA/*history ; Genomics/*history ; History, 20th Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid24449828, year = {2014}, author = {Berg, P}, title = {Fred Sanger: a memorial tribute.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {3}, pages = {883-884}, doi = {10.1073/pnas.1323264111}, pmid = {24449828}, issn = {1091-6490}, mesh = {Chemistry/history ; Genomics/history/methods ; History, 20th Century ; Humans ; Insulin/chemistry ; Nobel Prize ; Sequence Analysis/*history ; United Kingdom ; }, }
@article {pmid24448399, year = {2014}, author = {Biemann, K}, title = {Laying the groundwork for proteomics: mass spectrometry from 1958 to 1988.}, journal = {Journal of proteomics}, volume = {107}, number = {}, pages = {62-70}, doi = {10.1016/j.jprot.2014.01.008}, pmid = {24448399}, issn = {1876-7737}, support = {GM05472/GM/NIGMS NIH HHS/United States ; RR00317/RR/NCRR NIH HHS/United States ; }, mesh = {*Amino Acid Sequence ; History, 20th Century ; History, 21st Century ; Humans ; *Mass Spectrometry/history/methods ; *Proteomics/history/methods ; *Sequence Analysis, DNA/history/methods ; *Sequence Analysis, Protein/history/methods ; }, abstract = {The development of mass spectrometric methods in peptide and protein chemistry in the author's laboratory is reviewed, from the first determination of the amino acid sequence of small peptides in the late 1950s to its use for the determination of the primary structure of large proteins by a combination of mass spectrometry and DNA sequencing in the late 1980s. 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 {pmid24437663, year = {2014}, author = {Dwek, RA}, title = {Journeys in science: glycobiology and other paths.}, journal = {Annual review of biochemistry}, volume = {83}, number = {}, pages = {1-44}, doi = {10.1146/annurev-biochem-041612-095236}, pmid = {24437663}, issn = {1545-4509}, mesh = {Allergy and Immunology/history ; Animals ; Antigens ; Biomedical Research/history ; Drug Design ; England ; Glucosidases/chemistry ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Israel ; }, abstract = {My scientific journeys began at Oxford nearly 50 years ago. My paths have taken me from magnetic resonance through enzyme systems to antibodies, which led directly to glycobiology. Oxford University's first industrial grant helped the development of the technology for isolating and sequencing oligosaccharides from glycoproteins. This technology was disseminated through a spin-off company, Oxford GlycoSystems, and by the establishment of the Glycobiology Institute. The technology gave rise to the concept of glycoforms, which allow diversification of a protein's properties. Iminosugars, which are glucosidase inhibitors, can interfere with the initial steps of glycan processing on proteins and inhibit three-dimensional folding of glycoproteins. Glucosidase targets for therapy include viral envelope glycoproteins. Clinical trials of an iminosugar as an antiviral for dengue virus are under way. Another iminosugar activity, inhibition of glycolipid synthesis, resulted in a drug for Gaucher disease, which was approved worldwide in 2002. The success of the company and the institute allowed me to undertake several initiatives, in the United Kingdom and abroad, that might help the paths of future generations of scientists.}, }
@article {pmid24436413, year = {2014}, author = {Brenner, S}, title = {Retrospective. Frederick Sanger (1918-2013).}, journal = {Science (New York, N.Y.)}, volume = {343}, number = {6168}, pages = {262}, doi = {10.1126/science.1249912}, pmid = {24436413}, issn = {1095-9203}, mesh = {Chemistry ; England ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Nobel Prize ; Sequence Analysis, DNA/*history/methods ; }, }
@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 {pmid24384229, year = {2014}, author = {Aicardi, C}, title = {Of the Helmholtz Club, South-Californian seedbed for visual and cognitive neuroscience, and its patron Francis Crick.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {45}, number = {}, pages = {1-11}, pmid = {24384229}, issn = {1879-2499}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {California ; *Cognition ; Dissent and Disputes ; History, 20th Century ; History, 21st Century ; Humans ; *Interdisciplinary Communication ; Molecular Biology/history ; Neurosciences/*history ; Research/history ; Societies, Scientific/*history ; United Kingdom ; *Visual Perception ; }, abstract = {Taking up the view that semi-institutional gatherings such as clubs, societies, research schools, have been instrumental in creating sheltered spaces from which many a 20th-century project-driven interdisciplinary research programme could develop and become established within the institutions of science, the paper explores the history of one such gathering from its inception in the early 1980s into the 2000s, the Helmholtz Club, which brought together scientists from such various research fields as neuroanatomy, neurophysiology, psychophysics, computer science and engineering, who all had an interest in the study of the visual system and of higher cognitive functions relying on visual perception such as visual consciousness. It argues that British molecular biologist turned South Californian neuroscientist Francis Crick had an early and lasting influence over the Helmholtz Club of which he was a founding pillar, and that from its inception, the club served as a constitutive element in his long-term plans for a neuroscience of vision and of cognition. Further, it argues that in this role, the Helmholtz Club served many purposes, the primary of which was to be a social forum for interdisciplinary discussion, where 'discussion' was not mere talk but was imbued with an epistemic value and as such, carefully cultivated. Finally, it questions what counts as 'doing science' and in turn, definitions of success and failure-and provides some material evidence towards re-appraising the successfulness of Crick's contribution to the neurosciences.}, }
@article {pmid24382382, year = {2014}, author = {Gearhart, PJ and Kelsoe, G}, title = {A tribute to Michael S. Neuberger.}, journal = {The Journal of clinical investigation}, volume = {124}, number = {1}, pages = {3-5}, pmid = {24382382}, issn = {1558-8238}, mesh = {Antibodies/genetics ; England ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid24380948, year = {2014}, author = {Walker, J}, title = {Frederick Sanger (1918-2013).}, journal = {Nature}, volume = {505}, number = {7481}, pages = {27}, doi = {10.1038/505027a}, pmid = {24380948}, issn = {1476-4687}, mesh = {Chemistry/history ; Genomics/history/methods ; History, 20th Century ; Humans ; Insulin/chemistry/history ; Nobel Prize ; Sequence Analysis/*history ; United Kingdom ; }, }
@article {pmid27132350, year = {2014}, author = {Dix, R}, title = {The Demise of the Preformed Embryo: Edinburgh, Leiden, and the Physician-Poet Mark Akenside's Contribution to Re-Establishing Epigenetic Embryology.}, journal = {Clio medica (Amsterdam, Netherlands)}, volume = {94}, number = {}, pages = {74-96}, pmid = {27132350}, issn = {0045-7183}, mesh = {Embryology/*history ; Epigenomics/history ; History, 18th Century ; Humans ; Literature, Modern/*history ; *Medicine in Literature ; Netherlands ; Physicians/*history ; Poetry as Topic/*history ; Reproduction ; Scotland ; Students, Medical/history ; }, abstract = {Seventeenth-century advances in microscopy prompted a shift in the dominant theory of human reproduction from one of epigenesis, derived from such ancient authorities as Aristotle, which posited that the mixing of male and female reproductive material generated a being which had not existed before, to one of preformation, whereby embryologists argued that the offspring of an animal already existed in miniature in the reproductive material. This chapter reveals that the poet, Mark Akenside, anticipated the Enlightenment's challenge to the prevailing preformationist orthodoxy when a medical student at Edinburgh in the late 1730s, as evident in his May 1744 thesis entitled De ortu et incremento foetus humani ('On the Origin and Growth of the Human Foetus'). What prompted Akenside to take such a bold step? Faced with a scarcity of biographical sources, Akenside's major poem on The Pleasures of Imagination (1744) suggests how the poet had been thinking about reproductive processes in innovative contexts and that his medical research informed his concept of poetic creation.}, }
@article {pmid26292524, year = {2014}, author = {Costa, R and Frezza, G}, title = {CROSSOVERS BETWEEN EPIGENESIS AND EPIGENETICS. A MULTICENTER APPROACH TO THE HISTORY OF EPIGENETICS (1901-1975).}, journal = {Medicina nei secoli}, volume = {26}, number = {3}, pages = {905-942}, pmid = {26292524}, issn = {0394-9001}, mesh = {Animals ; Embryology/history ; Embryonic Development/genetics ; Epigenesis, Genetic ; Epigenomics/*history ; Gene Expression Regulation, Developmental ; Genetics/history ; History, 20th Century ; Humans ; Models, Genetic ; Multifactorial Inheritance ; Mutation ; }, abstract = {The origin of epigenetics has been traditionally traced back to Conrad Hal Waddington's foundational work in 1940s. The aim of the present paper is to reveal a hidden history of epigenetics, by means of a multicenter approach. Our analysis shows that genetics and embryology in early XX century--far from being non-communicating vessels--shared similar questions, as epitomized by Thomas Hunt Morgan's works. Such questions were rooted in the theory of epigenesis and set the scene for the development of epigenetics. Since the 1950s, the contribution of key scientists (Mary Lyon and Eduardo Scarano), as well as the discussions at the international conference of Gif-sur-Yvette (1957) paved the way for three fundamental shifts of focus: 1. From the whole embryo to the gene; 2. From the gene to the complex extranuclear processes of development; 3. From cytoplasmic inheritance to the epigenetics mechanisms.}, }
@article {pmid26292523, year = {2014}, author = {Capocci, M}, title = {[The international network and Italian modernization. Ruggero Ceppellini, genetics, and HLA].}, journal = {Medicina nei secoli}, volume = {26}, number = {3}, pages = {871-904}, pmid = {26292523}, issn = {0394-9001}, mesh = {Biomedical Research/history ; Blood Grouping and Crossmatching/history ; Genetics, Medical/history ; HLA Antigens/genetics/*history ; History, 20th Century ; Humans ; Immunogenetics/*history ; International Cooperation/*history ; Italy ; Malaria/genetics ; Selection, Genetic ; Social Change/*history ; World War II ; }, abstract = {The paper reconstructs the scientific career of Ruggero Ceppellini, focusing especially on his role in the discovery of the genetic system underlying the Human Leucocyte Antigen. From his earliest investigations in blood group genetics, Ceppellini quickly became an internationally acknowledged authority in the field of immunogenetics--the study of genetics by means of immunological tools--and participated to the endeavor that ultimately yelded a new meaning for the word: thanks to the pioneering research in the HLA field, immunogenetics became the study of the genetic control of immune system. The paper will also place Ceppellini's scientific work against the backdrop of the modernization of Italian genetics after WWII, resulting from the efforts of a handful of scientists to connect to international networks and adopting new methodologies in life sciences.}, }
@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 {pmid24363430, year = {2014}, author = {Roopenian, D}, title = {A methods paper that led to much more.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {192}, number = {1}, pages = {3-4}, pmid = {24363430}, issn = {1550-6606}, support = {P30 CA034196/CA/NCI NIH HHS/United States ; R01 AI028802/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Genetics/*history ; Histocompatibility/*genetics ; }, }
@article {pmid24350341, year = {2013}, author = {}, title = {This issue is dedicated to the memory of Professor Norman B. Hecht.}, journal = {Systems biology in reproductive medicine}, volume = {59}, number = {3}, pages = {123-177}, pmid = {24350341}, issn = {1939-6376}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Male ; *Molecular Biology/history ; *Reproduction ; }, }
@article {pmid24344296, year = {2014}, author = {Ravindran, S}, title = {Profile of Paul Schulze-Lefert.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {2}, pages = {570-572}, pmid = {24344296}, issn = {1091-6490}, mesh = {Biochemistry/*history ; Career Choice ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Plants/*genetics ; }, }
@article {pmid24337288, year = {2013}, author = {Sale, JE and Patel, KJ and Batista, FD}, title = {Retrospective. Michael Neuberger (1953-2013).}, journal = {Science (New York, N.Y.)}, volume = {342}, number = {6164}, pages = {1335}, doi = {10.1126/science.1248808}, pmid = {24337288}, issn = {1095-9203}, support = {MC_U105178808//Medical Research Council/United Kingdom ; MC_U105178811//Medical Research Council/United Kingdom ; }, mesh = {Allergy and Immunology/*history ; Animals ; Antibodies, Monoclonal, Humanized/*history ; *Antibody Diversity ; Biomedical Engineering/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Molecular Biology/*history ; United Kingdom ; }, }
@article {pmid24335703, year = {2014}, author = {Ravindran, S}, title = {Profile of Peter Novick.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {111}, number = {1}, pages = {3-4}, pmid = {24335703}, issn = {1091-6490}, mesh = {Endoplasmic Reticulum/metabolism ; Fungal Proteins/metabolism ; *Gene Expression Regulation, Fungal ; Golgi Apparatus/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history ; Saccharomyces cerevisiae/genetics/*metabolism ; Secretory Pathway/*physiology ; Societies, Scientific ; United States ; }, }
@article {pmid24333352, year = {2014}, author = {Lewis, RE}, title = {Nicole Suciu-Foca, PhD, Worthy Heir of Mendel and Medawar.}, journal = {Human immunology}, volume = {75}, number = {1}, pages = {1}, doi = {10.1016/j.humimm.2013.12.001}, pmid = {24333352}, issn = {1879-1166}, mesh = {History, 20th Century ; *Immunogenetics/history ; Romania ; Transplantation Immunology ; }, }
@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 &quot;proteome&quot; 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 &quot;proteomics&quot; 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 {pmid24305133, year = {2013}, author = {Ledford, H}, title = {Museums hunt for relics from genomics' early days.}, journal = {Nature}, volume = {504}, number = {7478}, pages = {20-21}, doi = {10.1038/504020a}, pmid = {24305133}, issn = {1476-4687}, mesh = {Genomics/history/*instrumentation ; History, 20th Century ; *Museums ; }, }
@article {pmid24300658, year = {2013}, author = {Kromberg, JG and Ramsay, M and Krause, A and Soodyall, H}, title = {Professor Trefor Jenkins: a tribute.}, journal = {South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, volume = {103}, number = {12 Suppl 1}, pages = {956-1034}, doi = {10.7196/samj.7627}, pmid = {24300658}, issn = {0256-9574}, mesh = {Genetics, Medical/*history ; History, 20th Century ; South Africa ; }, }
@article {pmid24298026, year = {2013}, author = {Smith, HW and Muller, WJ}, title = {Transgenic mouse models--a seminal breakthrough in oncogene research.}, journal = {Cold Spring Harbor protocols}, volume = {2013}, number = {12}, pages = {1099-1108}, doi = {10.1101/pdb.top069765}, pmid = {24298026}, issn = {1559-6095}, mesh = {Animals ; *Disease Models, Animal ; History, 20th Century ; History, 21st Century ; Mice ; *Mice, Transgenic ; Molecular Biology/*history/methods/*trends ; Neoplasms/*pathology/*physiopathology ; Oncogene Proteins/*analysis/genetics/metabolism ; }, abstract = {Transgenic mouse models are an integral part of modern cancer research, providing a versatile and powerful means of studying tumor initiation and progression, metastasis, and therapy. The present repertoire of these models is very diverse, with a wide range of strategies used to induce tumorigenesis by expressing dominant-acting oncogenes or disrupting the function of tumor-suppressor genes, often in a highly tissue-specific manner. Much of the current technology used in the creation and characterization of transgenic mouse models of cancer will be discussed in depth elsewhere. However, to gain a complete appreciation and understanding of these complex models, it is important to review the history of the field. Transgenic mouse models of cancer evolved as a new and, compared with the early cell-culture-based techniques, more physiologically relevant approach for studying the properties and transforming capacities of oncogenes. Here, we will describe early transgenic mouse models of cancer based on tissue-specific expression of oncogenes and discuss their impact on the development of this still rapidly growing field.}, }
@article {pmid24297879, year = {2013}, author = {Viegas, J}, title = {Profile of Barbara Imperiali.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {110}, number = {52}, pages = {20850-20851}, pmid = {24297879}, issn = {1091-6490}, mesh = {Career Choice ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Polysaccharides/*biosynthesis ; Proteins/*genetics/*metabolism ; }, }
@article {pmid24288325, year = {2013}, author = {Liebman, SW and Haber, JE}, title = {Retrospective. Fred Sherman (1932-2013).}, journal = {Science (New York, N.Y.)}, volume = {342}, number = {6162}, pages = {1059}, doi = {10.1126/science.1248055}, pmid = {24288325}, issn = {1095-9203}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Saccharomyces cerevisiae/*genetics ; United States ; }, }
@article {pmid24260934, year = {2013}, author = {Baldia, J and Morrison, T}, title = {The history of genomics: what nurses need to know. Part one of a three part series.}, journal = {The Florida nurse}, volume = {61}, number = {3}, pages = {13}, pmid = {24260934}, issn = {0015-4199}, mesh = {*Genomics/history ; History, 21st Century ; Humans ; *Nursing ; }, }
@article {pmid24242788, year = {2013}, author = {Kucherlapati, R and Leinwand, LA}, title = {Frank Ruddle (1929-2013).}, journal = {American journal of human genetics}, volume = {92}, number = {6}, pages = {839-840}, pmid = {24242788}, issn = {1537-6605}, mesh = {Chromosome Mapping/history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid24234179, year = {2013}, author = {Holmes, K}, title = {Hugh Esmor Huxley (1924–2013).}, journal = {Journal of muscle research and cell motility}, volume = {34}, number = {3-4}, pages = {311-315}, doi = {10.1007/s10974-013-9365-6}, pmid = {24234179}, issn = {1573-2657}, mesh = {Crystallography, X-Ray/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid24217982, year = {2014}, author = {Zetzsche, LH and Kotzer, KE and Wain, KE}, title = {Looking back and moving forward: an historical perspective from laboratory genetic counselors.}, journal = {Journal of genetic counseling}, volume = {23}, number = {3}, pages = {363-370}, pmid = {24217982}, issn = {1573-3599}, mesh = {*Genetic Counseling/history ; History, 20th Century ; History, 21st Century ; Workforce ; }, abstract = {Despite a consistent increase in genetic counselors who report working in laboratory positions, there is a relative dearth of literature on laboratory genetic counseling. Semi-structured interviews were completed with nine laboratory genetic counselors to document how positions were created and have changed with time. Interview transcriptions were analyzed for emerging themes. Several common themes were identified, including that early positions were often part-time, laboratory-initiated and had a lack of job definition. Laboratory genetic counselors commented on their evolving roles and responsibilities, with their positions becoming more technical and specialized over time and many taking on managerial and supervisory roles. All genetic counselors surveyed reported using core genetic counseling skills in their positions. The expansion of diagnostic testing and quickly evolving technology were common themes in regards to the future of laboratory genetic counselors, and participants commented on laboratory genetic counselors having expanding roles with data management, result interpretation and reporting, and guidance of other healthcare providers. Other comments included the impact of competition among laboratories and how training programs can better prepare genetic counseling students for a career in the laboratory setting. This study describes the emergence, and subsequent evolution, of laboratory genetic counseling positions as a significant subspecialty of genetic counseling.}, }
@article {pmid24207007, year = {2013}, author = {Ostankovitch, M and Debatisse, M}, title = {From the replicon to replication programs in space and time: regulation of DNA replication and implications for genomic instability.}, journal = {Journal of molecular biology}, volume = {425}, number = {23}, pages = {4659-4662}, doi = {10.1016/j.jmb.2013.10.023}, pmid = {24207007}, issn = {1089-8638}, mesh = {*DNA Replication ; DNA Replication Timing ; *Genomic Instability ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/trends ; Replicon ; }, }
@article {pmid24206610, year = {2013}, author = {Watts, G}, title = {Anthony James Pawson.}, journal = {Lancet (London, England)}, volume = {382}, number = {9902}, pages = {1398}, doi = {10.1016/S0140-6736(13)62204-7}, pmid = {24206610}, issn = {1474-547X}, mesh = {England ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid24197467, year = {2014}, author = {Katz, L}, title = {Sir David Alan Hopwood.}, journal = {Journal of industrial microbiology &amp; biotechnology}, volume = {41}, number = {2}, pages = {173-174}, doi = {10.1007/s10295-013-1372-5}, pmid = {24197467}, issn = {1476-5535}, mesh = {Biological Products/history ; Genomics/*history ; History, 20th Century ; Streptomyces/genetics ; United Kingdom ; }, }
@article {pmid24189390, year = {2013}, author = {Noguera-Solano, R and Ruiz-Gutierrez, R and Rodriguez-Caso, JM}, title = {Genome: twisting stories with DNA.}, journal = {Endeavour}, volume = {37}, number = {4}, pages = {213-219}, doi = {10.1016/j.endeavour.2013.05.003}, pmid = {24189390}, issn = {1873-1929}, mesh = {DNA/*history ; Genetic Research/history ; *Genome ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {In 1920, the German botanist Hans Winkler coined the concept of the 'genome'. This paper explores the history of a concept that has developed in parallel with advances in biology and supports novel and powerful heuristic biological research in the 21st century. From a structural interpretation (the genome as the haploid number of chromosomes), it has changed to keep pace with technological progress and new interpretations of the material of heredity. In the first place, the 'genome' was extended to include all the material in the nucleus, then the sum of all genes, and (with the discovery of the structure of DNA) the sum of the nucleotide base sequences. In the early 21st century, it has become a much more complex and central concept that has spawned the growing field of studies referred to as the 'omics'.}, }
@article {pmid24183015, year = {2013}, author = {Sweatt, JD}, title = {The emerging field of neuroepigenetics.}, journal = {Neuron}, volume = {80}, number = {3}, pages = {624-632}, pmid = {24183015}, issn = {1097-4199}, support = {P30 NS057098/NS/NINDS NIH HHS/United States ; R01 MH091122/MH/NIMH NIH HHS/United States ; R01 NR012686/NR/NINR NIH HHS/United States ; R01 AG031722/AG/NIA NIH HHS/United States ; R01 MH057014/MH/NIMH NIH HHS/United States ; }, mesh = {Animals ; Epigenesis, Genetic/*physiology ; *Epigenomics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Neurosciences/history ; }, abstract = {Over the past 25 years, the broad field of epigenetics and, over the past decade in particular, the emerging field of neuroepigenetics have begun to have tremendous impact in the areas of learned behavior, neurotoxicology, CNS development, cognition, addiction, and psychopathology. However, epigenetics is such a new field that in most of these areas the impact is more in the category of fascinating implications as opposed to established facts. In this brief commentary, I will attempt to address and delineate some of the open questions and areas of opportunity that discoveries in epigenetics are providing to the discipline of neuroscience.}, }
@article {pmid24161968, year = {2013}, author = {Marx, V}, title = {The author file: Jeff Dangl.}, journal = {Nature methods}, volume = {10}, number = {10}, pages = {919}, pmid = {24161968}, issn = {1548-7105}, mesh = {Genetics, Microbial/history/methods ; History, 21st Century ; Molecular Biology/history/methods ; Plant Diseases/microbiology ; Plants/*microbiology ; United States ; }, }
@article {pmid24160422, year = {2014}, author = {Zuk, M and Garcia-Gonzalez, F and Herberstein, ME and Simmons, LW}, title = {Model systems, taxonomic bias, and sexual selection: beyond Drosophila.}, journal = {Annual review of entomology}, volume = {59}, number = {}, pages = {321-338}, doi = {10.1146/annurev-ento-011613-162014}, pmid = {24160422}, issn = {1545-4487}, mesh = {Animals ; Arthropods/genetics/*physiology ; Diptera/genetics/physiology ; Drosophila melanogaster/genetics/physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; *Mating Preference, Animal ; *Models, Animal ; }, abstract = {Although model systems are useful in entomology, allowing generalizations based on a few well-known species, they also have drawbacks. It can be difficult to know how far to generalize from information in a few species: Are all flies like Drosophila? The use of model systems is particularly problematic in studying sexual selection, where variability among taxa is key to the evolution of different behaviors. A bias toward the use of a few insect species, particularly from the genus Drosophila, is evident in the sexual selection and sexual conflict literature over the past several decades, although the diversity of study organisms has increased more recently. As the number of model systems used to study sexual conflict increased, support for the idea that sexual interactions resulted in harm to females decreased. Future work should choose model systems thoughtfully, combining well-known species with those that can add to the variation that allows us to make more meaningful generalizations.}, }
@article {pmid24159795, year = {2013}, author = {Goncharov, NP}, title = {[125th birth anniversary of the outstanding botanist Peter Mikhailovich Zhukovsky].}, journal = {Genetika}, volume = {49}, number = {5}, pages = {549-557}, doi = {10.7868/s0016675813050068}, pmid = {24159795}, issn = {0016-6758}, mesh = {Anniversaries and Special Events ; Botany/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Periodicals as Topic ; Plant Infertility/genetics ; Portraits as Topic ; Triticum/genetics ; }, abstract = {Peter Mikhailovich Zhykovsky--botanist, monograph of the genus Aegilops, closest associate of N.N. Vavilov, Director of the All-Union Institute of Plant Industry, Academic Secretary of the Department of Agriculture of VASKhNIL, and the first Editor-in-Chief of the Genetika journal. He postulated a theory on host-parasite coevolution at their common place of origin, and put forward the concept on Megagene centers of origin of cultivated plants and their endemic Microgene centers. He discovered and described the new wheat species Triticum timopheevii (Zhuk.) Zhuk. This species is unique with respect to its immunity to diseases and pests, and is the carrier of the genes for cytoplasmic male sterility.}, }
@article {pmid24145450, year = {2013}, author = {Viegas, J}, title = {Profile of Dennis Lo.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {110}, number = {47}, pages = {18742-18743}, pmid = {24145450}, issn = {1091-6490}, mesh = {Career Choice ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neoplasms/*diagnosis ; Prenatal Diagnosis/*methods ; }, }
@article {pmid24137624, year = {2013}, author = {}, title = {American Genetic Association presents the annual Stephen J. O'Brien Award.}, journal = {The Journal of heredity}, volume = {104}, number = {5}, pages = {734}, doi = {10.1093/jhered/est053}, pmid = {24137624}, issn = {1465-7333}, mesh = {Animals ; *Awards and Prizes ; Evolution, Molecular ; France ; Gene Flow/genetics ; Genetics, Population/*history ; History, 21st Century ; Passeriformes/*genetics ; Societies, Scientific ; }, }
@article {pmid24135003, year = {2013}, author = {Weiss, A}, title = {Tony Pawson: Modular protein domains and the links to intracellular signaling.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {110}, number = {44}, pages = {17604-17605}, pmid = {24135003}, issn = {1091-6490}, support = {P30 DK063720/DK/NIDDK NIH HHS/United States ; //Howard Hughes Medical Institute/United States ; }, mesh = {Career Choice ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Protein Structure, Tertiary/*physiology ; Proteomics/*history ; Signal Transduction/*physiology ; }, }
@article {pmid24127495, year = {2013}, author = {Moremen, KW}, title = {The 2013 Karl Meyer Award and Rosalind Kornfeld Award from the Society for Glycobiology.}, journal = {Glycobiology}, volume = {23}, number = {11}, pages = {1207-1209}, doi = {10.1093/glycob/cwt076}, pmid = {24127495}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; Glycosylation ; History, 20th Century ; History, 21st Century ; Humans ; Societies, Scientific ; Switzerland ; United States ; }, }
@article {pmid24123982, year = {2013}, author = {Opitz, JM and Neri, G}, title = {Historical perspective on developmental concepts and terminology.}, journal = {American journal of medical genetics. Part A}, volume = {161A}, number = {11}, pages = {2711-2725}, doi = {10.1002/ajmg.a.36244}, pmid = {24123982}, issn = {1552-4833}, mesh = {*Biology/history ; *Genetics, Medical/history ; History, 18th Century ; History, 19th Century ; Humans ; Terminology as Topic ; }, abstract = {In their ontogeny and phylogeny all living beings are historical entities. The revolution in biology of the 18th and 19th centuries that did away with the scala naturae according to which we humans, the acme of creation, &quot;made a little lower than the angels,&quot; also led to the gradual realization that a humble one-celled protist (&quot;protoctist&quot;), such as Entamoeba histolytica of ill repute [Margulis and Chapman, ] has the same 4-billion-year phylogeny as that of Homo sapiens, vivid testimony to common ancestry and the relatedness of all living beings on earth. The group of medical geneticists who assembled at the NIH, Bethesda, MD this January to address terms pertaining to human ontogeny, did so in the long tradition of Sydenham, Linnaeus, Meckel, Geoffroy St-Hilaire père et fils, Wilhelm His and so many others before who had over the previous two centuries wrestled as earnestly as they could with concepts of &quot;classification&quot; and nomenclature of developmental anomalies. The prior massive need for cl