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30 Nov 2020 at 01:40
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Bibliography on: History of Genetics


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RJR: Recommended Bibliography 30 Nov 2020 at 01:40 Created: 

History of Genetics

Created with PubMed® Query: "Genetics/*history"[MESH] NOT pmcbook NOT ispreviousversion

Citations The Papers (from PubMed®)


RevDate: 2020-11-27
CmpDate: 2020-11-27

Cavaillon JM (2020)

André Boivin: A pioneer in endotoxin research and an amazing visionary during the birth of molecular biology.

Innate immunity, 26(3):165-171.

RevDate: 2020-11-23
CmpDate: 2020-11-23

Veigl SJ, Harman O, E Lamm (2020)

Friedrich Miescher's Discovery in the Historiography of Genetics: From Contamination to Confusion, from Nuclein to DNA.

Journal of the history of biology, 53(3):451-484.

In 1869, Johann Friedrich Miescher discovered a new substance in the nucleus of living cells. The substance, which he called nuclein, is now known as DNA, yet both Miescher's name and his theoretical ideas about nuclein are all but forgotten. This paper traces the trajectory of Miescher's reception in the historiography of genetics. To his critics, Miescher was a "contaminator," whose preparations were impure. Modern historians portrayed him as a "confuser," whose misunderstandings delayed the development of molecular biology. Each of these portrayals reflects the disciplinary context in which Miescher's work was evaluated. Using archival sources to unearth Miescher's unpublished speculations-including an analogy between the hereditary material and language, and a speculation that a series of asymmetric carbon atoms could account for hereditary variation-this paper clarifies the ways in which the past was judged through the lens of contemporary concerns. It also shows how organization, structure, function, and information were already being considered when nuclein was first discovered nearly 150 years ago.

RevDate: 2020-11-23
CmpDate: 2020-11-23

Roy S, Liu W, Nandety RS, et al (2020)

Celebrating 20 Years of Genetic Discoveries in Legume Nodulation and Symbiotic Nitrogen Fixation.

The Plant cell, 32(1):15-41.

Since 1999, various forward- and reverse-genetic approaches have uncovered nearly 200 genes required for symbiotic nitrogen fixation (SNF) in legumes. These discoveries advanced our understanding of the evolution of SNF in plants and its relationship to other beneficial endosymbioses, signaling between plants and microbes, the control of microbial infection of plant cells, the control of plant cell division leading to nodule development, autoregulation of nodulation, intracellular accommodation of bacteria, nodule oxygen homeostasis, the control of bacteroid differentiation, metabolism and transport supporting symbiosis, and the control of nodule senescence. This review catalogs and contextualizes all of the plant genes currently known to be required for SNF in two model legume species, Medicago truncatula and Lotus japonicus, and two crop species, Glycine max (soybean) and Phaseolus vulgaris (common bean). We also briefly consider the future of SNF genetics in the era of pan-genomics and genome editing.

RevDate: 2020-11-16
CmpDate: 2020-11-16

Peifer M (2020)

The Eighth Day of Creation: looking back across 40 years to the birth of molecular biology and the roots of modern cell biology.

Molecular biology of the cell, 31(2):81-86.

Forty years ago, Horace Judson's The Eighth Day of Creation was published, a book vividly recounting the foundations of modern biology, the molecular biology revolution. This book inspired many in my generation. The anniversary provides a chance for a new generation to take a look back, to see how science has and hasn't changed. Many central players in the book, including Sydney Brenner, Seymour Benzer, and François Jacob, would go on to be among the founders of modern cell biology, developmental biology, and neurobiology. These players come alive via their own words, as complex individuals, both heroes and anti-heroes. The technologies and experimental approaches they pioneered, ranging from cell fractionation to immunoprecipitation to structural biology, and the multidisciplinary approaches they took continue to power and inspire our work today. In the process, Judson brings out of the shadows the central roles played by women in many of the era's discoveries. He provides us with a vision of how science and scientists have changed, of how many things about our endeavor never change, and of how some new ideas are perhaps not as new as we would like to think.

RevDate: 2020-11-06
CmpDate: 2020-11-06

Josephy D (2020)

A tribute to Prof. Bruce Ames.

Mutation research, 856-857:503221.

RevDate: 2020-11-04
CmpDate: 2020-11-04

Butel-Simoes GI, Macrae F, AD Spigelman (2020)

Celebrating the career and contributions of Dr Henry T. Lynch (1928-2019).

Internal medicine journal, 50(1):108-109.

This article celebrates the career of Dr Henry Lynch and his contributions to cancer genetics through his extensive research, clinical practice and his passion for personalising care by using a patient's genetic profile to determine management and treatment. Dr Lynch's contributions were momentous and continue to have relevance to medical practice, in particular in the fields of clinical genetics, medical oncology and gastroenterology.

RevDate: 2020-11-02
CmpDate: 2020-11-02

Moreau-Gachelin F, Camonis J, de Gunzburg J, et al (2020)

[Armand Tavitian (1931-2020): from oncogenes to the Ras superfamily].

Medecine sciences : M/S, 36(8-9):810-812.

RevDate: 2020-10-29
CmpDate: 2020-10-29

Bodmer W (2019)

Ruggero Ceppellini: A Perspective on His Contributions to Genetics and Immunology.

Frontiers in immunology, 10:1280.

Ruggero Ceppellini, who died at the age of 71 in 1988, was one of the most stimulating and original human geneticists of his generation (1). Ceppellini's outstanding contributions to the genetics of the human blood groups, immunoglobulin allotypes and the HLA system epitomize the study of immunogenetics. By using his considerable skills and insights to unravel the interpretation of the serological data, he made significant contributions to immunology. He is remembered especially for his incisive contributions to the development of the genetics of the HLA system and its nomenclature, including, in particular, his introduction of the term "haplotype," now widely used by geneticists throughout the world, most of whom are unlikely to be aware of its origins.

RevDate: 2020-10-28
CmpDate: 2020-10-28

Eve A (2020)

An interview with Eric Olson.

Development (Cambridge, England), 147(6): pii:147/6/dev188854.

Eric Olson is Professor and Chair of Molecular Biology at the University of Texas Southwestern Medical Center, USA, where he holds the Robert A. Welch Distinguished Chair in Science, the Annie and Willie Nelson Professorship in Stem Cell Research and the Pogue Distinguished Chair in Research in Cardiac Birth Defects. In 1999, he was elected to the US National Academy of Sciences and, in 2001, to the Institute of Medicine of the National Academy. He has received several awards, including the American Heart Association Research Achievement Award in 2008 and the Eugene Braunwald Academic Mentorship award in 2016. He has a lifelong interest in muscle development and disease, with a particular interest in Duchenne muscular dystrophy. In this interview, conducted at the Society for Developmental Biology's 2019 meeting in Boston, Massachusetts, USA, he discusses his experiences in academia and industry, as well as reflecting on the people and opportunities that contributed to his career.

RevDate: 2020-10-19
CmpDate: 2020-10-19

Frantz LAF, Bradley DG, Larson G, et al (2020)

Animal domestication in the era of ancient genomics.

Nature reviews. Genetics, 21(8):449-460.

The domestication of animals led to a major shift in human subsistence patterns, from a hunter-gatherer to a sedentary agricultural lifestyle, which ultimately resulted in the development of complex societies. Over the past 15,000 years, the phenotype and genotype of multiple animal species, such as dogs, pigs, sheep, goats, cattle and horses, have been substantially altered during their adaptation to the human niche. Recent methodological innovations, such as improved ancient DNA extraction methods and next-generation sequencing, have enabled the sequencing of whole ancient genomes. These genomes have helped reconstruct the process by which animals entered into domestic relationships with humans and were subjected to novel selection pressures. Here, we discuss and update key concepts in animal domestication in light of recent contributions from ancient genomics.

RevDate: 2020-10-19
CmpDate: 2020-10-19

Meli AC, CE Seidman (2020)

Scientists on the Spot: Putting a halt to hypertrophic cardiomyopathy.

Cardiovascular research, 116(3):e42-e43.

RevDate: 2020-10-16
CmpDate: 2020-10-14

Immunological Genome Project (2020)

ImmGen at 15.

Nature immunology, 21(7):700-703.

RevDate: 2020-10-13
CmpDate: 2020-10-13

Haber M, Nassar J, Almarri MA, et al (2020)

A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.

American journal of human genetics, 107(1):149-157.

The Iron and Classical Ages in the Near East were marked by population expansions carrying cultural transformations that shaped human history, but the genetic impact of these events on the people who lived through them is little-known. Here, we sequenced the whole genomes of 19 individuals who each lived during one of four time periods between 800 BCE and 200 CE in Beirut on the Eastern Mediterranean coast at the center of the ancient world's great civilizations. We combined these data with published data to traverse eight archaeological periods and observed any genetic changes as they arose. During the Iron Age (∼1000 BCE), people with Anatolian and South-East European ancestry admixed with people in the Near East. The region was then conquered by the Persians (539 BCE), who facilitated movement exemplified in Beirut by an ancient family with Egyptian-Lebanese admixed members. But the genetic impact at a population level does not appear until the time of Alexander the Great (beginning 330 BCE), when a fusion of Asian and Near Easterner ancestry can be seen, paralleling the cultural fusion that appears in the archaeological records from this period. The Romans then conquered the region (31 BCE) but had little genetic impact over their 600 years of rule. Finally, during the Ottoman rule (beginning 1516 CE), Caucasus-related ancestry penetrated the Near East. Thus, in the past 4,000 years, three limited admixture events detectably impacted the population, complementing the historical records of this culturally complex region dominated by the elite with genetic insights from the general population.

RevDate: 2020-10-13
CmpDate: 2020-10-13

Bensch S (2020)

Scott V. Edwards-Recipient of the 2019 Molecular Ecology Prize.

Molecular ecology, 29(1):20-22.

RevDate: 2020-10-09
CmpDate: 2020-10-09

Jordan B (2020)

[Junk DNA is out of fashion].

Medecine sciences : M/S, 36(6-7):675-677.

A systematic search for non-conventional open reading frames in human DNA reveals a large number of small ORFs encoding peptides generally smaller than 100 amino-acids. These ORFs are transcribed and translated into small proteins, which are demonstrated to have functional significance by bulk CRISPR inactivation. Evidence is also found for bicistronic mRNAs including such a small ORF upstream of a canonical coding sequence. These findings add a new facet to our understanding of biological processes.

RevDate: 2020-10-05
CmpDate: 2020-10-05

Hall K (2019)

"In Praise of Wool": The development of partition chromatography and its under-appreciated impact on molecular biology.

Endeavour, 43(4):100708.

The invention of partition chromatography by the biochemists Archer Martin and Richard Synge in 1941 offered crucial insights into the structure and function of DNA, insights at least as important as those from X-ray crystallography. Even so, the role that partition chromatography played in molecular biological studies is far less well known. Using new archival material, this article describes the origins of Martin and Synge's work, arguing that their achievement was far more than a new technical innovation; it went on to have a profound impact on the development of molecular biology to an extent that scholars have insufficiently appreciated.

RevDate: 2020-10-05
CmpDate: 2020-10-05

Griffin DK, Larkin DM, RE O'Connor (2020)

Time lapse: A glimpse into prehistoric genomics.

European journal of medical genetics, 63(2):103640.

For the purpose of this review, 'time-lapse' refers to the reconstruction of ancestral (in this case dinosaur) karyotypes using genome assemblies of extant species. Such reconstructions are only usually possible when genomes are assembled to 'chromosome level' i.e. a complete representation of all the sequences, correctly ordered contiguously on each of the chromosomes. Recent paleontological evidence is very clear that birds are living dinosaurs, the latest example of dinosaurs emerging from a catastrophic extinction event. Non-avian dinosaurs (ever present in the public imagination through art, and broadcast media) emerged some 240 million years ago and have displayed incredible phenotypic diversity. Here we report on our recent studies to infer the overall karyotype of the Theropod dinosaur lineage from extant avian chromosome level genome assemblies. Our work first focused on determining the likely karyotype of the avian ancestor (most likely a chicken-sized, two-legged, feathered, land dinosaur from the Jurassic period) finding karyotypic similarity to the chicken. We then took the work further to determine the likely karyotype of the bird-lizard ancestor and the chromosomal changes (chiefly translocations and inversions) that occurred between then and modern birds. A combination of bioinformatics and cross-species fluorescence in situ hybridization (zoo-FISH) uncovered a considerable number of translocations and fissions from a 'lizard-like' genome structure of 2n = 36-46 to one similar to that of soft-shelled turtles (2n = 66) from 275 to 255 million years ago (mya). Remarkable karyotypic similarities between some soft-shelled turtles and chicken suggests that there were few translocations from the bird-turtle ancestor (plus ∼7 fissions) through the dawn of the dinosaurs and pterosaurs, through the theropod linage and on to most to modern birds. In other words, an avian-like karyotype was in place about 240mya when the dinosaurs and pterosaurs first emerged. We mapped 49 chromosome inversions from then to the present day, uncovering some gene ontology enrichment in evolutionary breakpoint regions. This avian-like karyotype with its many (micro)chromosomes provides the basis for variation (the driver of natural selection) through increased random segregation and recombination. It may therefore contribute to the ability of dinosaurs to survive multiple extinction events, emerging each time as speciose and diverse.

RevDate: 2020-09-28
CmpDate: 2020-09-28

Pederson T (2020)

The double helix: "Photo 51" revisited.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 34(2):1923-1927.

RevDate: 2020-09-29
CmpDate: 2020-09-29

Hewitt JK (2020)

Celebrating the 50th Anniversary of the Journal, Behavior Genetics.

Behavior genetics, 50(1):1-2.

RevDate: 2020-09-29
CmpDate: 2020-09-29

Tahmasebi S, Sonenberg N, Hershey JWB, et al (2019)

Protein Synthesis and Translational Control: A Historical Perspective.

Cold Spring Harbor perspectives in biology, 11(9): pii:cshperspect.a035584.

Protein synthesis and its regulation are central to all known forms of life and impinge on biological arenas as varied as agriculture, biotechnology, and medicine. Otherwise known as translation and translational control, these processes have been investigated with increasing intensity since the middle of the 20th century, and in increasing depth with advances in molecular and cell biology. We review the origins of the field, focusing on the underlying concepts and early studies of the cellular machinery and mechanisms involved. We highlight key discoveries and events on a timeline, consider areas where current research has engendered new ideas, and conclude with some speculation on future directions for the field.

RevDate: 2020-09-09
CmpDate: 2020-09-09

Konashev M (2020)

Soviet genetics and the communist party: was it all bad and wrong, or none at all?.

History and philosophy of the life sciences, 42(2):27 pii:10.1007/s40656-020-00323-0.

The history of genetics and the evolutionary theory in the USSR is multidimensional. Only in the 1920s after the October Revolution, and due in large part to that Revolution, the science of genetics arose in Soviet Russia. Genetics was limited, but not obliterated in the second half of the 1950s, and was restored in the late 1960s, after the resignation of Nikita S. Khrushchev. In the subsequent period, Soviet genetics experienced a resurgence, though one not as successful as geneticists would have liked. The Communist party bodies interfered constantly, but with different consequences for the development of genetics than when the earlier periods. The main troubles for Soviet genetics occurred during the unique, well-known, most contradictory, and tragic Stalinist period. The start date for the defeat of genetics is also known-August, 1948. In the social history of science and especially in the history of evolutionary biology (including genetics) it is natural, necessary, and even expected to adopt an evolutionary approach. In particular, historians of science need to consider and explain the evolution and dependence of Soviet science in regards to the evolution of Soviet society, the Soviet state, and the Communist party. This evolutionary perspective reflects the standards of evolutionary biology, evolutionary macrosociology, and also the history of science.

RevDate: 2020-09-07
CmpDate: 2020-09-07

Pederson T (2020)

The 50th anniversary of reverse transcriptase-and its ironic legacy in the time of coronavirus.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 34(6):7219-7221.

RevDate: 2020-09-01
CmpDate: 2020-09-01

Wilson K, Narasimhan V, Pham T, et al (2019)

Precision medicine in colorectal surgery: coming to a hospital near you.

ANZ journal of surgery, 89(9):995-996.

RevDate: 2020-08-31
CmpDate: 2020-08-31

Ramamoorthy A, Karnes JH, Finkel R, et al (2019)

Evolution of Next Generation Therapeutics: Past, Present, and Future of Precision Medicines.

Clinical and translational science, 12(6):560-563.

RevDate: 2020-08-28
CmpDate: 2020-08-28

Ravindran S (2020)

Profile of Christopher A. Walsh.

Proceedings of the National Academy of Sciences of the United States of America, 117(25):13861-13863.

RevDate: 2020-08-28
CmpDate: 2020-08-28

Saleh MC (2019)

Interview: Maria-Carla Saleh.

Cellular microbiology, 21(8):e13061.

RevDate: 2020-08-24
CmpDate: 2020-08-24

Hermes TR, Frachetti MD, Voyakin D, et al (2020)

High mitochondrial diversity of domesticated goats persisted among Bronze and Iron Age pastoralists in the Inner Asian Mountain Corridor.

PloS one, 15(5):e0233333.

Goats were initially managed in the Near East approximately 10,000 years ago and spread across Eurasia as economically productive and environmentally resilient herd animals. While the geographic origins of domesticated goats (Capra hircus) in the Near East have been long-established in the zooarchaeological record and, more recently, further revealed in ancient genomes, the precise pathways by which goats spread across Asia during the early Bronze Age (ca. 3000 to 2500 cal BC) and later remain unclear. We analyzed sequences of hypervariable region 1 and cytochrome b gene in the mitochondrial genome (mtDNA) of goats from archaeological sites along two proposed transmission pathways as well as geographically intermediary sites. Unexpectedly high genetic diversity was present in the Inner Asian Mountain Corridor (IAMC), indicated by mtDNA haplotypes representing common A lineages and rarer C and D lineages. High mtDNA diversity was also present in central Kazakhstan, while only mtDNA haplotypes of lineage A were observed from sites in the Northern Eurasian Steppe (NES). These findings suggest that herding communities living in montane ecosystems were drawing from genetically diverse goat populations, likely sourced from communities in the Iranian Plateau, that were sustained by repeated interaction and exchange. Notably, the mitochondrial genetic diversity associated with goats of the IAMC also extended into the semi-arid region of central Kazakhstan, while NES communities had goats reflecting an isolated founder population, possibly sourced via eastern Europe or the Caucasus region.

RevDate: 2020-08-20
CmpDate: 2020-08-20

Gazzaniga MS (2019)

Following Schrödinger's Code: A Personal Journey.

Journal of cognitive neuroscience, 31(12):1777-1781.

On a wintery afternoon over 60 years ago, I was browsing the Baker Library stacks at Dartmouth College and stumbled across a small book with an arresting title: What Is Life? [Schrödinger, E. What is Life? The physical aspect of the living cell and mind. Cambridge: Cambridge University Press, 1944]. This small volume contained numerous concepts that would transform the future of the biological sciences, giving rise to new fields, dogmas, approaches, and debates. Here, I present the core concepts of Schrödinger's book, the influence they have had on biology, and the influence they may continue to have on the cognitive neurosciences.

RevDate: 2020-08-21
CmpDate: 2020-08-21

Albert DM (2019)

Clyde E. Keeler: The Rodless Mouse and the Early Days of Retinal Genetic Research.

Ophthalmology. Retina, 3(9):716-723.

PURPOSE: To report the lifetime activities and accomplishments of Clyde E. Keeler (1900-1994), a pioneer in the study of retinal genetics.

DESIGN: Retrospective review.

METHODS: Assessment of published and unpublished biographical material.

RESULTS: Nearly a century ago, Keeler discovered an inherited abnormality in the mouse that causes the absence of rod photoreceptors and is the mouse counterpart of 1 type of human retinitis pigmentosa.

CONCLUSIONS: In 1923, Keeler serendipitously discovered the so-called rodless mouse, which is now known to be the result of a mutation in the PDEGB gene. The historical name for the mouse strain is rd. This same defect was reported in human patients with retinitis pigmentosa in 1993. Keeler's mouse model is still used in gene therapy studies seeking to cure retinitis pigmentosa.

RevDate: 2020-08-07
CmpDate: 2020-08-07

de Wit E (2020)

TADs as the Caller Calls Them.

Journal of molecular biology, 432(3):638-642.

Developments in proximity ligation methods and sequencing technologies have provided high-resolution views of the organization of the genome inside the nucleus. A prominent feature of Hi-C maps is regions of increased self-interaction called topologically associating domains (TADs). Despite the strong evolutionary conservation and clear link with gene expression, the exact role of TADs and even their definition remains debatable. Here, I review the discovery of TADs, how they are commonly identified, and the mechanisms that lead to their formation. Furthermore, I discuss recent results that have created a more nuanced view of the role of TADs in the regulation of genes. In light of this, I propose that when we define TADs, we also consider the mechanisms that shape them.

RevDate: 2020-08-04
CmpDate: 2020-08-04

Furtwängler A, Rohrlach AB, Lamnidis TC, et al (2020)

Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland.

Nature communications, 11(1):1915.

Genetic studies of Neolithic and Bronze Age skeletons from Europe have provided evidence for strong population genetic changes at the beginning and the end of the Neolithic period. To further understand the implications of these in Southern Central Europe, we analyze 96 ancient genomes from Switzerland, Southern Germany, and the Alsace region in France, covering the Middle/Late Neolithic to Early Bronze Age. Similar to previously described genetic changes in other parts of Europe from the early 3rd millennium BCE, we detect an arrival of ancestry related to Late Neolithic pastoralists from the Pontic-Caspian steppe in Switzerland as early as 2860-2460 calBCE. Our analyses suggest that this genetic turnover was a complex process lasting almost 1000 years and involved highly genetically structured populations in this region.

RevDate: 2020-08-03
CmpDate: 2020-08-03

Hudgins L (2019)

Annemarie Sommer memorial.

American journal of medical genetics. Part A, 179(9):1689-1690.

RevDate: 2020-08-03
CmpDate: 2020-08-03

Richards JS (2019)

WOMEN IN REPRODUCTIVE SCIENCE: Discovering science and the ovary: a career of joy.

Reproduction (Cambridge, England), 158(6):F69-F80.

My career has been about discovering science and learning the joys of the discovery process itself. It has been a challenging but rewarding process filled with many exciting moments and wonderful colleagues and students. Although I went to college to become a French major, I ultimately stumbled into research while pursuing a Masters Degree in teaching. Thus, my research career began in graduate school where I was studying NAD kinase in the ovary as a possible regulator of steroidogenesis, a big issue in the late 1960s. After a short excursion of teaching in North Dakota, I became a postdoctoral fellow at the University of Michigan, where radio-immuno assays and radio receptor assays had just come on the scene and were transforming endocrinology from laborious bioassays to quantitative science and of course these assays related to the ovary. From there I went to Baylor College of Medicine, a mecca of molecular biology, cloning genes and generating mouse models. It has been a fascinating and joyous journey.

RevDate: 2020-07-30
CmpDate: 2020-07-30

Kumar P, Nagarajan A, PD Uchil (2019)


Cold Spring Harbor protocols, 2019(7): pii:2019/7/pdb.top096271.

Electroporation is a process in which brief electrical pulses create transient pores in the plasma membrane that allow nucleic acids to enter the cellular cytoplasm. Here, we provide information on the history, mechanism, and optimization of electroporation. We also describe nucleofection, an improvement of the electroporation technology that permits the introduction of nucleic acids directly into the nucleus.

RevDate: 2020-07-20
CmpDate: 2020-07-20

Benson DL (2020)

Of Molecules and Mechanisms.

The Journal of neuroscience : the official journal of the Society for Neuroscience, 40(1):81-88.

Without question, molecular biology drives modern neuroscience. The past 50 years has been nothing short of revolutionary as key findings have moved the field from correlation toward causation. Most obvious are the discoveries and strategies that have been used to build tools for visualizing circuits, measuring activity, and regulating behavior. Less flashy, but arguably as important are the myriad investigations uncovering the actions of single molecules, macromolecular structures, and integrated machines that serve as the basis for constructing cellular and signaling pathways identified in wide-scale gene or RNA studies and for feeding data into informational networks used in systems biology. This review follows the pathways that were opened in neuroscience by major discoveries and set the stage for the next 50 years.

RevDate: 2020-07-17
CmpDate: 2020-07-17

DeMarini DM (2020)

The mutagenesis moonshot: The propitious beginnings of the environmental mutagenesis and genomics society.

Environmental and molecular mutagenesis, 61(1):8-24.

A mutagenesis moonshot addressing the influence of the environment on our genetic wellbeing was launched just 2 months before astronauts landed on the moon. Its impetus included the discovery that X-rays (Muller HJ. [1927]: Science 64:84-87) and chemicals (Auerbach and Robson. [1946]: Nature 157:302) were germ-cell mutagens, the introduction of a growing number of untested chemicals into the environment after World War II, and an increasing awareness of the role of environmental pollution on human health. Due to mounting concern from influential scientists that germ-cell mutagens might be ubiquitous in the environment, Alexander Hollaender and colleagues founded in 1969 the Environmental Mutagen Society (EMS), now the Environmental Mutagenesis and Genomics Society (EMGS); Frits Sobels founded the European EMS in 1970. As Fred de Serres noted, such societies were necessary because protecting populations from environmental mutagens could not be addressed by existing scientific societies, and new multidisciplinary alliances were required to spearhead this movement. The nascent EMS gathered policy makers and scientists from government, industry, and academia who became advocates for laws requiring genetic toxicity testing of pesticides and drugs and helped implement those laws. They created an electronic database of the mutagenesis literature; established a peer-reviewed journal; promoted basic and applied research in DNA repair and mutagenesis; and established training programs that expanded the science worldwide. Despite these successes, one objective remains unfulfilled: identification of human germ-cell mutagens. After 50 years, the voyage continues, and a vibrant EMGS is needed to bring the mission to its intended target of protecting populations from genetic hazards. Environ. Mol. Mutagen. 61:8-24, 2020. © 2019 Wiley Periodicals, Inc.

RevDate: 2020-07-16
CmpDate: 2020-07-16

Thieffry D, M Kaufman (2019)

Prologue to the special issue of JTB dedicated to the memory of René Thomas (1928-2017): A journey through biological circuits, logical puzzles and complex dynamics.

Journal of theoretical biology, 474:42-47.

RevDate: 2020-07-14
CmpDate: 2020-07-14

Davis TH (2020)

QnAs with Jens Nielsen.

Proceedings of the National Academy of Sciences of the United States of America, 117(14):7548-7549.

RevDate: 2020-07-14
CmpDate: 2020-07-14

Shi Y (2019)

Arnold J. Levine and my career development.

Journal of molecular cell biology, 11(7):546-550.

RevDate: 2020-07-14
CmpDate: 2020-07-14

Zambetti GP (2019)

Arnie Levine and the MDM2-p53 discovery: a postdoctoral fellow's perspective.

Journal of molecular cell biology, 11(7):620-623.

RevDate: 2020-07-14
CmpDate: 2020-07-14

Hinds PW (2019)

A paean to Arnie Levine on the occasion of his 80th birthday.

Journal of molecular cell biology, 11(7):544-545.

RevDate: 2020-07-13
CmpDate: 2020-07-13

Rawson RV, RA Scolyer (2020)

From Breslow to BRAF and immunotherapy: evolving concepts in melanoma pathogenesis and disease progression and their implications for changing management over the last 50 years.

Human pathology, 95:149-160.

Since it was first recognized as a disease entity more than two centuries ago, advanced melanoma has, until recently, followed a very aggressive and almost universally fatal clinical course. However, over the past 50 years crucial ground breaking research has greatly enhanced our understanding of the etiology, risk factors, genomic pathogenesis, immunological interactions, prognostic features and management of melanoma. It is this combined body of work which has culminated in the exciting improvements in patient outcomes for those with advanced melanoma over the last ten years. In this the 50th anniversary of Human Pathology, we highlight the key developments in melanoma over this period.

RevDate: 2020-07-13
CmpDate: 2020-07-13

Solanki M, D Visscher (2020)

Pathology of breast cancer in the last half century.

Human pathology, 95:137-148.

The past 50 years has been an era of technological innovation converging with the now dominant culture of testing hypotheses using clinical trials and case cohort methodology with rigorous statistical analysis. Great advances have been made in early diagnosis and, especially, less toxic and disfiguring primary therapy. Many of the advances in pathology have been in conjunction with efforts to support clinical initiatives, improve diagnostic reliability and translate basic science discoveries into tests that stratify patient management. Pathologists, with the support of epidemiologists, have lead significant advancements in the description and clinical significance of benign breast disease. Despite considerable efforts, the cure for breast cancer awaits better understanding of the pathophysiology of metastasis. We stand now at the brink a new era of technology, in which powerful genomic assays may be put to use in uncovering targets of therapy and defining mechanisms of disease progression. Pathologists must be active in ensuring that discoveries in this realm are optimized by assuring association with appropriate histological correlation and valid clinical endpoints.

RevDate: 2020-07-13
CmpDate: 2020-07-13

Folpe AL (2020)

"Hey! Whatever happened to hemangiopericytoma and fibrosarcoma?" An update on selected conceptual advances in soft tissue pathology which have occurred over the past 50 years.

Human pathology, 95:113-136.

Hemangiopericytoma and fibrosarcoma represented at one time two of the most common diagnoses in soft tissue pathology. Both terms are now largely extinct. This article will review the clinicopathologic, immunohistochemical and molecular genetic advances that have led to these changes, and review the pathologic features of a select group of soft tissue tumors previously classified as hemangiopericytoma or fibrosarcoma.

RevDate: 2020-07-13
CmpDate: 2020-07-13

MacLennan GT, L Cheng (2020)

Five decades of urologic pathology: the accelerating expansion of knowledge in renal cell neoplasia.

Human pathology, 95:24-45.

Those who are knowledgeable in cosmology inform us that the expansion of the universe is such that the velocity at which a distant galaxy is receding from the observer is continually increasing with time. We humbly paraphrase that as "The bigger the universe gets, the faster it gets bigger." This is an interesting analogy for the expansion of knowledge in the field of renal tumor pathology over the past 30 to 50 years. It is clear that a multitude of dedicated investigators have devoted incalculable amounts of time and effort to the pursuit of knowledge about renal epithelial neoplasms. As a consequence of the contributions of numerous investigators over many decades, the most recent World Health Organization classification of renal neoplasms includes about 50 well defined and distinctive renal tumors, as well as various miscellaneous and metastatic tumors. In addition, a number of emerging or provisional new entities are under active investigation and may be included in future classifications. In this review, we will focus on a number of these tumors, tracing as accurately as we can the origins of their discovery, relating relevant additions to the overall knowledge base surrounding them, and in some instances addressing changes in nomenclature.

RevDate: 2020-07-13
CmpDate: 2020-07-13

Baloch Z, VA LiVolsi (2020)

Fifty years of thyroid pathology: concepts and developments.

Human pathology, 95:46-54.

The past half century has seen a number of advances in pathology of thyroid diseases, especially neoplastic lesions. These include the description of new entities, the definition of prognostically important lesions, the incorporation of fine needle aspiration biopsy and its functional risk stratification of diagnoses into the clinical evaluation and therapeutic recommendations of the patient with thyroid nodules and the understanding of thyroid neoplastic development, diagnostic and prognostic parameters by use of molecular analysis so that such techniques are becoming standard of care for patients with thyroid tumors. The histopathologist and cytopathologist have been and continue to be at the forefront in the definition and understanding of these areas of thyroid disease. This review describes many of the most important advances in this area in an attempt bring the practicing pathologist up to date in these developments.

RevDate: 2020-07-13
CmpDate: 2020-07-13

Hruban RH, Klimstra DS, Zamboni G, et al (2020)

A semicentennial of pancreatic pathology: the genetic revolution is here, but don't throw the baby out with the bath water!.

Human pathology, 95:99-112.

The last 50 years have witnessed an explosion in our understanding of the pathology of pancreatic diseases. Entities known to exist 50 years ago have been defined more precisely and are now better classified. New entities, previously not recognized, have been discovered and can now be treated. Importantly, new tools have been developed that have unraveled the fundamental biological drivers of a number of pancreatic diseases. Many of these same tools have also been applied clinically, supplementing the tried and true hematoxylin and eosin stained slide with a plethora of new, highly sensitive and specific tests that improve diagnostic accuracy and delineate best treatments. As exciting as these many advances are, our knowledge of pancreatic pathology remains incomplete, and there is much to be learned.

RevDate: 2020-07-13
CmpDate: 2020-07-13

Louis DN (2020)

A half century of change in diagnostic neuropathology: from the giants of yore to current brain tumor classification.

Human pathology, 95:161-168.

The first issue of Human Pathology contains a laudatory review of one of the most treasured books in the history of neuropathology: Neurological Clinicopathological Conferences of the Massachusetts General Hospital, a collection of neurological cases that appeared first in the New England Journal of Medicine in the 1940s, 1950s, and 1960s. Each patient history is discussed by well-known neurologists, neurosurgeons, and neuropathologists. Review of these cases provides a framework to explore diagnostic shifts that have occurred over the past half century. Importantly, while the discussants of these cases were great diagnosticians, they were somewhat limited by the methods available to them at the time; subsequent novel technologies provided opportunities for new insights that were made by the next generation of experts. Today's pathologists (whether neuropathologists or any other pathology subspecialists) are similarly skilled at diagnosis, although their diagnoses are now more often made on biopsies (rather than autopsies) and informed by pre-operative imaging studies as well as post-operative molecular analyses. In turn, one would conclude that, even in the face of future technological changes brought about by disruptive innovations like artificial intelligence and deep molecular analyses, a need will continue for the expertise of pathologists and other clinical diagnosticians.

RevDate: 2020-07-09
CmpDate: 2020-07-09

Mason CA, SM Sherman (2019)

Editorial: Introduction to the special issue in honor of Ray Guillery.

The European journal of neuroscience, 49(7):884-887.

RevDate: 2020-07-09
CmpDate: 2020-07-09

Mason C, R Guillery (2019)

Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development.

The European journal of neuroscience, 49(7):913-927.

In albinism of all species, perturbed melanin biosynthesis in the eye leads to foveal hypoplasia, retinal ganglion cell misrouting, and, consequently, altered binocular vision. Here, written before he died, Ray Guillery chronicles his discovery of the aberrant circuitry from eye to brain in the Siamese cat. Ray's characterization of visual pathway anomalies in this temperature sensitive mutation of tyrosinase and thus melanin synthesis in domestic cats opened the exploration of albinism and simultaneously, a genetic approach to the organization of neural circuitry. I follow this account with a remembrance of Ray's influence on my work. Beginning with my postdoc research with Ray on the cat visual pathway, through my own work on the mechanisms of retinal axon guidance in the developing mouse, Ray and I had a continuous and rich dialogue about the albino visual pathway. I will present the questions Ray posed and clues we have to date on the still-elusive link between eye pigment and the proper balance of ipsilateral and contralateral retinal ganglion cell projections to the brain.

RevDate: 2020-07-09
CmpDate: 2020-07-09

Walsh CA (2019)

Rainer W. Guillery and the genetic analysis of brain development.

The European journal of neuroscience, 49(7):900-908.

Ray Guillery had broad research interests that spanned cellular neuroanatomy, but was perhaps best known for his investigation of the connectivity and function of the thalamus, especially the visual pathways. His work on the genetics of abnormal vision in albino mammals served as an early paradigm for genetic approaches for studying brain connectivity of complex species in general, and remains of major relevance today. This work, especially on the Siamese cat, illustrates the complex relationship between genotype and physiology of cerebral cortical circuits, and anticipated many of the issues underlying the imperfect relationship between genes, circuits, and behavior in mammalian species including human. This review also briefly summarizes studies from our own lab inspired by Ray Guillery's legacy that continues to explore the relationship between genes, structure, and behavior in human cerebral cortex.

RevDate: 2020-07-09
CmpDate: 2020-07-09

LaMantia AS (2019)

The strengths of the genetic approach to understanding neural systems development and function: Ray Guillery's synthesis.

The European journal of neuroscience, 49(7):888-899.

The organization and function of sensory systems, especially the mammalian visual system, has been the focus of philosophers and scientists for centuries-from Descartes and Newton onward. Nevertheless, the utility of understanding development and its genetic foundations for deeper insight into neural function has been debated: Do you need to know how something is assembled-a car, for example-to understand how it works or how to use it-to turn on the ignition and drive? This review addresses this issue for sensory pathways. The pioneering work of the late Rainer W. (Ray) Guillery provides an unequivocal answer to this central question: Using genetics for mechanistic exploration of sensory system development yields essential knowledge of organization and function. Ray truly built the foundation for this now accepted tenet of modern neuroscience. His work on the development and reorganization of visual pathways in albino mammals-all with primary genetic mutations in genes for pigmentation-defined the genetic approach to neural systems development, function and plasticity. The work that followed his lead in a variety of sensory systems, including my own work in the developing olfactory system, proceeds directly from Ray's fundamental contributions.

RevDate: 2020-07-08
CmpDate: 2020-07-08

Jorrin-Novo JV, Komatsu S, Sanchez-Lucas R, et al (2019)

Gel electrophoresis-based plant proteomics: Past, present, and future. Happy 10th anniversary Journal of Proteomics!.

Journal of proteomics, 198:1-10.

In this century we have assisted at an unimaginable expansion of proteomics, with continuous innovations and optimizations in methods, techniques, protocols, equipment, and associated bioinformatics tools. We have moved forward very fast from first (gel electrophoresis based), to second (based on isotopic or isobaric labelling), to third (shotgun or gel-free, label-free), and to fourth (targeted, mass-western, or SRM/MRM) generation techniques. This evolution is clearly observed in the literature since 1994, when the term "proteome" was first coined, with plant proteomics progressing at a much lower speed than human and other model organisms. The question behind this review is: Is gel electrophoresis an obsolete technique? Is it still alive? The answer is that gel electrophoresis is still a valid technique, with its own particularities, strengths, and weaknesses, "irreplaceable" in top-down experiments directed at investigating protein species, loci and allelic variants, and isoforms, as well as in the post-translational modifications and interactions studies; it is an excellent complementary and alternative approach that could lead us to achieve a deeper visualization and knowledge of the cell proteome. The past, present, and future of this technique is being reviewed. It is not pretended to discuss in detail technical aspects, referring to key original papers or previous reviews, but instead, how it has contributed, from a historical perspective, to plant proteomics and biology research. It is our personal congratulations to "Journal of Proteomics" that celebrates this year its 10th anniversary, and, at the same time, a tribute to those scientists who have contributed to the establishment and development of the gel electrophoresis technique and its application to proteomics and plant biology research. Their direct or indirect teaching has been very valuable to those of us who once decided to enter proteomics, with no access to any sophisticated and expensive equipment. This gel electrophoresis-based plant proteomics review is divided into the following sections: introduction, history, methodology, contribution to plant biology research, and future directions.

RevDate: 2020-07-06
CmpDate: 2020-07-06

Salomé PA (2019)

Sabeeha Merchant.

The Plant cell, 31(12):2814-2816.

RevDate: 2020-07-06
CmpDate: 2020-07-06

Anonymous (2019)

The people behind the papers - Shai Eyal and Elazar Zelzer.

Development (Cambridge, England), 146(14): pii:146/14/dev182733.

Most bones in the vertebrate skeleton are made in the same way - endochondrial ossification - yet they display a variety of shapes and sizes. The question of how these unique bone morphologies, including the superstructures that protrude from their surfaces, arise during development is still unclear, and the subject of a new paper in Development We caught up with first author Shai Eyal and his supervisor Elazar Zelzer, Professor in the Department of Molecular Genetics at the Weizmann Institute of Science in Rehovot, Israel, to find out more about the story.

RevDate: 2020-07-06
CmpDate: 2020-07-06

Rubin MA, F Demichelis (2019)

The Genomics of Prostate Cancer: A Historic Perspective.

Cold Spring Harbor perspectives in medicine, 9(3): pii:cshperspect.a034942.

The genomics of prostate cancer (PCA) has been difficult to study compared with some other cancer types for a multitude of reasons, despite significant efforts since the early 1980s. Overcoming some of these obstacles has paved the way for greater insight into the genomics of PCA. The advent of high-throughput technologies coming from the initial use of microsatellite and oligonucleotide probes gave rise to techniques like comparative genomic hybridization (CGH). With the introduction of massively parallel genomic sequencing, referred to as next-generation sequencing (NGS), a deeper understanding of cancer genomics in general has occurred. Along with these technologic advances, there has been the development of computational biology and statistical approaches to address novel large data sets characterized by single base resolution. This review will provide a historic perspective of PCA genomics with an emphasis on the cardinal mutations and alterations observed to be consistently seen in PCA for both hormone-naïve localized PCA and castration-resistant prostate cancer (CRPC). There will be a focus on alterations that have the greatest potential to play a role in disease progression and therapy management.

RevDate: 2020-07-02
CmpDate: 2020-07-02

Nicol D, Dreyfuss RC, Gold ER, et al (2019)

International Divergence in Gene Patenting.

Annual review of genomics and human genetics, 20:519-541.

This review explores the recent divergence in international patent law relating to genes and associated subject matter. This divergence stems primarily from decisions of the highest courts in the United States and Australia on the eligibility of patent claims relating to the BRCA gene sequences. Patent offices, courts, and policy makers have struggled for many years to clearly articulate the bounds of patent claims on isolated and synthetic DNA and related products and processes, including methods for their use in genetic diagnostics. This review provides context to the current divergence by mapping key events in the gene patent journey from the early 1980s onward in five key jurisdictions: the United States, the member states of the European Patent Convention, Australia, Canada, and China. Early approaches to gene patenting had some commonalities across jurisdictions, which makes exploration of the recent divergence all the more interesting.There is insufficient empirical evidence to date to confidently predict the consequences of this recent divergence. However, it could potentially have a significant effect on local industry and on consumer access.

RevDate: 2020-07-01
CmpDate: 2020-07-01

Tanimoto H, CF Wu (2019)

Comparative behavioral genetics: the Yamamoto approach.

Journal of neurogenetics, 33(2):41-43.

RevDate: 2020-06-29
CmpDate: 2020-06-29

Hyun J (2019)

Doctors Discussing "the Root of Koreans": Medical Genetics and the Korean Origin, 1975-1987.

Ui sahak, 28(2):551-590.

Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started redrawing the ancient migratory history of human populations. A peculiarity of the Korean experience is that clinical physicians were the first experts using genetic data to theorize the historical origin of the respective population. This paper examines how South Korean physicians produced the genetic knowledge and discourse of the Korean origin in the 1970s and 1980s. It argues that transnational scientific exchange led clinical researchers to engage in global anthropological studies. The paper focuses on two scientific cooperative cases in medical genetics at the time: the West German-South Korean pharmacogenetic research on the Korean population and the Asia-Oceania Histocompatibility Workshop. At the outset, physicians introduced medical genetics into their laboratory for clinical applications. Involved in cooperative projects on investigating anthropological implications of their clinical work, medical researchers came to use their genetic data for studying the Korean origin. In the process, physicians simply followed a nationalist narrative of the Korean origin rather than criticizing it. This was partially due to their lack of serious interest in anthropological work. Their explanations about the Korean origin would be considered "scientific" while hiding their embracing of the nationalist narrative.

RevDate: 2020-06-29
CmpDate: 2020-06-29

Frank M, Harkess A, J Washburn (2019)

James A. Birchler.

The Plant cell, 31(10):2277-2280.

RevDate: 2020-06-30
CmpDate: 2020-06-30

Drineas P, Tsetsos F, Plantinga A, et al (2019)

Genetic history of the population of Crete.

Annals of human genetics, 83(6):373-388.

The medieval history of several populations often suffers from scarcity of contemporary records resulting in contradictory and sometimes biased interpretations by historians. This is the situation with the population of the island of Crete, which remained relatively undisturbed until the Middle Ages when multiple wars, invasions, and occupations by foreigners took place. Historians have considered the effects of the occupation of Crete by the Arabs (in the 9th and 10th centuries C.E.) and the Venetians (in the 13th to the 17th centuries C.E.) to the local population. To obtain insights on such effects from a genetic perspective, we studied representative samples from 17 Cretan districts using the Illumina 1 million or 2.5 million arrays and compared the Cretans to the populations of origin of the medieval conquerors and settlers. Highlights of our findings include (1) small genetic contributions from the Arab occupation to the extant Cretan population, (2) low genetic contribution of the Venetians to the extant Cretan population, and (3) evidence of a genetic relationship among the Cretans and Central, Northern, and Eastern Europeans, which could be explained by the settlement in the island of northern origin tribes during the medieval period. Our results show how the interaction between genetics and the historical record can help shed light on the historical record.

RevDate: 2020-06-08
CmpDate: 2020-06-08

Muenke M (2019)

Onward and upward.

American journal of medical genetics. Part A, 179(7):1119-1121.

RevDate: 2020-06-01
CmpDate: 2020-06-01

Kumar TR (2019)

An interview with Dr Blanche Capel.

Biology of reproduction, 100(4):865-868.

RevDate: 2020-05-29
CmpDate: 2020-05-29

Fernández-Irigoyen J, Corrales F, E Santamaría (2019)

The Human Brain Proteome Project: Biological and Technological Challenges.

Methods in molecular biology (Clifton, N.J.), 2044:3-23.

Brain proteomics has become a method of choice that allows zooming-in where neuropathophysiological alterations are taking place, detecting protein mediators that might eventually be measured in cerebrospinal fluid (CSF) as potential neuropathologically derived biomarkers. Following this hypothesis, mass spectrometry-based neuroproteomics has emerged as a powerful approach to profile neural proteomes derived from brain structures and CSF in order to map the extensive protein catalog of the human brain. This chapter provides a historical perspective on the Human Brain Proteome Project (HBPP), some recommendation to the experimental design in neuroproteomic projects, and a brief description of relevant technological and computational innovations that are emerging in the neurobiology field thanks to the proteomics community. Importantly, this chapter highlights recent discoveries from the biology- and disease-oriented branch of the HBPP (B/D-HBPP) focused on spatiotemporal proteomic characterizations of mouse models of neurodegenerative diseases, elucidation of proteostatic networks in different types of dementia, the characterization of unresolved clinical phenotypes, and the discovery of novel biomarker candidates in CSF.

RevDate: 2020-05-29
CmpDate: 2020-05-29

Woollard A (2019)

100 years of genetics.

Heredity, 123(1):1-3.

RevDate: 2020-05-29
CmpDate: 2020-05-29

van Heyningen V (2019)

Genome sequencing-the dawn of a game-changing era.

Heredity, 123(1):58-66.

The development of genome sequencing technologies has revolutionized the biological sciences in ways which could not have been imagined at the time. This article sets out to document the dawning of the age of genomics and to consider the impact of this revolution on biological investigation, our understanding of life, and the relationship between science and society.

RevDate: 2020-05-29
CmpDate: 2020-05-29

Hurst LD (2019)

A century of bias in genetics and evolution.

Heredity, 123(1):33-43.

Mendel proposed that the heritable material is particulate and that transmission of alleles is unbiased. An assumption of unbiased transmission was necessary to show how variation can be preserved in the absence of selection, so overturning an early objection to Darwinism. In the second half of the twentieth century, it was widely recognised that even strongly deleterious alleles can invade if they have strongly biased transmission (i.e. strong segregation distortion). The spread of alleles with distorted segregation can explain many curiosities. More recently, the selectionist-neutralist duopoly was broken by the realisation that biased gene conversion can explain phenomena such as mammalian isochore structures. An initial focus on unbiased transmission in 1919, has thus given way to an interest in biased transmission in 2019. A focus on very weak bias is now possible owing to technological advances, although technical biases may put a limit on resolving power. To understand the relevance of weak bias we could profit from having the concept of the effectively Mendelian allele, a companion to the effectively neutral allele. Understanding the implications of unbiased and biased transmission may, I suggest, be a good way to teach evolution so as to avoid psychological biases.

RevDate: 2020-05-27
CmpDate: 2020-05-27

Anonymous (2019)

13th East-West Immunogenetics Conference, 14-16 March 2019, Zagreb, Croatia.

HLA, 94 Suppl 2:3-76.

RevDate: 2020-05-26
CmpDate: 2020-05-26

Neill US (2019)

A conversation with Lucy Shapiro.

The Journal of clinical investigation, 129(8):2981-2982.

RevDate: 2020-05-18
CmpDate: 2020-05-18

Wolinsky H (2019)

Ancient DNA and contemporary politics: The analysis of ancient DNA challenges long-held beliefs about identity and history with potential for political abuse.

EMBO reports, 20(12):e49507.

The sequencing and analysis of ancient human DNA has helped to rewrite human history. But it is also tempting politicians, nationalists and supremacists to abuse this research for their agendas.

RevDate: 2020-05-18
CmpDate: 2020-05-18

Ortega-Del Vecchyo D, M Slatkin (2019)

FST between archaic and present-day samples.

Heredity, 122(6):711-718.

The increasing abundance of DNA sequences obtained from fossils calls for new population genetics theory that takes account of both the temporal and spatial separation of samples. Here, we exploit the relationship between Wright's FST and average coalescence times to develop an analytic theory describing how FST depends on both the distance and time separating pairs of sampled genomes. We apply this theory to several simple models of population history. If there is a time series of samples, partial population replacement creates a discontinuity in pairwise FST values. The magnitude of the discontinuity depends on the extent of replacement. In stepping-stone models, pairwise FST values between archaic and present-day samples reflect both the spatial and temporal separation. At long distances, an isolation by distance pattern dominates. At short distances, the time separation dominates. Analytic predictions fit patterns generated by simulations. We illustrate our results with applications to archaic samples from European human populations. We compare present-day samples with a pair of archaic samples taken before and after a replacement event.

RevDate: 2020-05-13
CmpDate: 2020-05-13

The Gene Ontology Consortium (2019)

The Gene Ontology Resource: 20 years and still GOing strong.

Nucleic acids research, 47(D1):D330-D338.

The Gene Ontology resource (GO; http://geneontology.org) provides structured, computable knowledge regarding the functions of genes and gene products. Founded in 1998, GO has become widely adopted in the life sciences, and its contents are under continual improvement, both in quantity and in quality. Here, we report the major developments of the GO resource during the past two years. Each monthly release of the GO resource is now packaged and given a unique identifier (DOI), enabling GO-based analyses on a specific release to be reproduced in the future. The molecular function ontology has been refactored to better represent the overall activities of gene products, with a focus on transcription regulator activities. Quality assurance efforts have been ramped up to address potentially out-of-date or inaccurate annotations. New evidence codes for high-throughput experiments now enable users to filter out annotations obtained from these sources. GO-CAM, a new framework for representing gene function that is more expressive than standard GO annotations, has been released, and users can now explore the growing repository of these models. We also provide the 'GO ribbon' widget for visualizing GO annotations to a gene; the widget can be easily embedded in any web page.

RevDate: 2020-05-12
CmpDate: 2020-05-12

Buchan DWA, DT Jones (2019)

The PSIPRED Protein Analysis Workbench: 20 years on.

Nucleic acids research, 47(W1):W402-W407.

The PSIPRED Workbench is a web server offering a range of predictive methods to the bioscience community for 20 years. Here, we present the work we have completed to update the PSIPRED Protein Analysis Workbench and make it ready for the next 20 years. The main focus of our recent website upgrade work has been the acceleration of analyses in the face of increasing protein sequence database size. We additionally discuss any new software, the new hardware infrastructure, our webservices and web site. Lastly we survey updates to some of the key predictive algorithms available through our website.

RevDate: 2020-05-11
CmpDate: 2020-05-11

Suran M (2020)

Finding the tail end: The discovery of RNA splicing.

Proceedings of the National Academy of Sciences of the United States of America, 117(4):1829-1832.

RevDate: 2020-05-08
CmpDate: 2020-05-08

Temtamy SA (2019)

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years.

Annual review of genomics and human genetics, 20:1-19.

This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of the Center of Excellence for Human Genetics. This was also the subject of a lecture I gave at the 10th Conference of the African Society of Human Genetics, held in Cairo in November 2017, after which Professor Michèle Ramsay, president of the society, suggested that I write an autobiographical article for the Annual Review of Genomics and Human Genetics. I hope that I succeeded in the difficult assignment of summarizing the efforts of a researcher from a developing country to initiate and maintain the rapidly advancing science of human genetics and genomics in my own country and make contributions to the worldwide scientific community.

RevDate: 2020-05-05
CmpDate: 2020-05-05

Marcus JH, Posth C, Ringbauer H, et al (2020)

Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia.

Nature communications, 11(1):939.

The island of Sardinia has been of particular interest to geneticists for decades. The current model for Sardinia's genetic history describes the island as harboring a founder population that was established largely from the Neolithic peoples of southern Europe and remained isolated from later Bronze Age expansions on the mainland. To evaluate this model, we generate genome-wide ancient DNA data for 70 individuals from 21 Sardinian archaeological sites spanning the Middle Neolithic through the Medieval period. The earliest individuals show a strong affinity to western Mediterranean Neolithic populations, followed by an extended period of genetic continuity on the island through the Nuragic period (second millennium BCE). Beginning with individuals from Phoenician/Punic sites (first millennium BCE), we observe spatially-varying signals of admixture with sources principally from the eastern and northern Mediterranean. Overall, our analysis sheds light on the genetic history of Sardinia, revealing how relationships to mainland populations shifted over time.

RevDate: 2020-05-05
CmpDate: 2020-05-04

Aktories K, Gierschik P, Heringdorf DMZ, et al (2019)

cAMP guided his way: a life for G protein-mediated signal transduction and molecular pharmacology-tribute to Karl H. Jakobs.

Naunyn-Schmiedeberg's archives of pharmacology, 392(8):887-911.

Karl H. Jakobs, former editor-in-chief of Naunyn-Schmiedeberg's Archives of Pharmacology and renowned molecular pharmacologist, passed away in April 2018. In this article, his scientific achievements regarding G protein-mediated signal transduction and regulation of canonical pathways are summarized. Particularly, the discovery of inhibitory G proteins for adenylyl cyclase, methods for the analysis of receptor-G protein interactions, GTP supply by nucleoside diphosphate kinases, mechanisms in phospholipase C and phospholipase D activity regulation, as well as the development of the concept of sphingosine-1-phosphate as extra- and intracellular messenger will presented. His seminal scientific and methodological contributions are put in a general and timely perspective to display and honor his outstanding input to the current knowledge in molecular pharmacology.

RevDate: 2020-05-01
CmpDate: 2020-05-01

Anonymous (2019)

Spotlight On Early Career Researchers: an interview with Lovorka Stojic.

Communications biology, 2:204 pii:466.

Dr. Lovorka Stojic is a postdoctoral research fellow at the University of Cambridge and will start her own research group at the Barts Cancer Institute this fall. Her research focuses on understanding how long noncoding RNAs and RNA-binding proteins regulate key cellular processes and how dysregulation of these processes can contribute to human diseases such as cancer. As part of our series on early-career researchers, we asked Dr. Stojic to tell us about her research and career path. She also shares her challenges from juggling between multiple roles and advice for job applications.

RevDate: 2020-05-01
CmpDate: 2020-05-01

Barahona A (2019)

Karyotyping and population genetics in Cold War Mexico: Armendares's and Lisker's characterization of child and indigenous populations, 1960s-1980s.

Historia, ciencias, saude--Manguinhos, 26(1):245-264.

This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.

RevDate: 2020-05-01
CmpDate: 2020-05-01

Torrens E (2019)

Biomedical knowledge in Mexico during the Cold War and its impact in pictorial representations of Homo sapiens and racial hierarchies.

Historia, ciencias, saude--Manguinhos, 26(1):219-244.

This paper provides an overview of the state of Mexican genetics and biomedical knowledge during the second half of the twentieth century, as well as its impact on the visual representation of human groups and racial hierarchies, based on social studies of scientific imaging and visualization (SIV) and theoretical concepts and methods. It also addresses the genealogy and shifts of the concept of race and racialization of Mexican bodies, concluding with the novel visual culture that resulted from genetic knowledge merged with the racist phenomenon in the second half of the twentieth century in Mexico.

RevDate: 2020-04-30
CmpDate: 2020-04-30

Carrasco N (2019)

Mentors: Ron Kaback.

The Journal of general physiology, 151(2):97-99.

RevDate: 2020-04-24
CmpDate: 2020-04-24

Schüpbach T (2019)

Genetic Screens to Analyze Pattern Formation of Egg and Embryo in Drosophila: A Personal History.

Annual review of genetics, 53:1-18.

In Drosophila development, the axes of the egg and future embryo are established during oogenesis. To learn about the underlying genetic and molecular pathways that lead to axis formation, I conducted a large-scale genetic screen at the beginning of my independent career. This led to the eventual understanding that both anterior-posterior and dorsal-ventral pattern information is transmitted from the oocyte to the surrounding follicle cells and in turn from the follicle cells back to the oocyte. How I came to conduct this screen and what further insights were gained by studying the mutants isolated in the screen are the topics of this autobiographical article.

RevDate: 2020-04-23
CmpDate: 2020-04-23

Veuille M (2019)

Chance, Variation and Shared Ancestry: Population Genetics After the Synthesis.

Journal of the history of biology, 52(4):537-567.

Chance has been a focus of attention ever since the beginning of population genetics, but neutrality has not, as natural selection once appeared to be the only worthwhile issue. Neutral change became a major source of interest during the neutralist-selectionist debate, 1970-1980. It retained interest beyond this period for two reasons that contributed to its becoming foundational for evolutionary reasoning. On the one hand, neutral evolution was the first mathematical prediction to emerge from Mendelian inheritance: until then evolution by natural selection was considered the alternative to the fixity of species; now it appears to be the alternative to continuous change. Second, neutral change generated a set of clear predictions on standing variation. These could be used as a reference for detecting more elusive alternative mechanisms of evolution including natural selection. In the wake of the transition from Mendelism to genomics, the combination of coalescent theory, DNA sequence variation, and numerical analysis made it possible to integrate contingent aspects of the history of species into a new null model, thus opening a new dimension in the concept of population that the Modern Synthesis formerly considered as a mere gene pool.

RevDate: 2020-04-23
CmpDate: 2020-04-23

Beatty J (2019)

The Creativity of Natural Selection? Part II: The Synthesis and Since.

Journal of the history of biology, 52(4):705-731.

This is the second of a two-part essay on the history of debates concerning the creativity of natural selection, from Darwin through the evolutionary synthesis and up to the present. In the first part, I focussed on the mid-late nineteenth century to the early twentieth, with special emphasis on early Darwinism and its critics, the self-styled "mutationists." The second part focuses on the evolutionary synthesis and some of its critics, especially the "neutralists" and "neo-mutationists." Like Stephen Gould, I consider the creativity of natural selection to be a key component of what has traditionally counted as "Darwinism." I argue that the creativity of natural selection is best understood in terms of (1) selection initiating evolutionary change, and (2) selection directing evolutionary change, for example by creating the variation that it subsequently acts upon. I consider the respects in which both of these claims sound non-Darwinian, even though they have long been understood by supporters and critics alike to be virtually constitutive of Darwinism.

RevDate: 2020-04-23
CmpDate: 2020-04-23

Huneman P (2019)

How the Modern Synthesis Came to Ecology.

Journal of the history of biology, 52(4):635-686.

Ecology in principle is tied to evolution, since communities and ecosystems result from evolution and ecological conditions determine fitness values (and ultimately evolution by natural selection). Yet the two disciplines of evolution and ecology were not unified in the twentieth-century. The architects of the Modern Synthesis, and especially Julian Huxley, constantly pushed for such integration, but the major ideas of the Synthesis-namely, the privileged role of selection and the key role of gene frequencies in evolution-did not directly or immediately translate into ecological science. In this paper I consider five stages through which the Synthesis was integrated into ecology and distinguish between various ways in which a possible integration was gained. I start with Elton's animal ecology (1927), then consider successively Ford's ecological genetics in the 1940s, the major textbook Principles of animal ecology edited by Allee et al. (1949), and the debates over the role of competition in population regulation in the 1950s, ending with Hutchinson's niche concept (1959) and McArthur and Wilson's Principles of Island Biogeography (1967) viewed as a formal transposition of Modern Synthesis explanatory schemes. I will emphasize the key role of founders of the Synthesis at each stage of this very nonlinear history.

RevDate: 2020-04-23
CmpDate: 2020-04-23

Grodwohl JB (2019)

Animal Behavior, Population Biology and the Modern Synthesis (1955-1985).

Journal of the history of biology, 52(4):597-633.

This paper examines the history of animal behavior studies after the synthesis period. Three episodes are considered: the adoption of the theory of natural selection, the mathematization of ideas, and the spread of molecular methods in behavior studies. In these three episodes, students of behavior adopted practices and standards developed in population ecology and population genetics. While they borrowed tools and methods from these fields, they made distinct uses (inclusive fitness method, evolutionary theory of games, emphasis on individual selection) that set them relatively apart and led them to contribute, in their own way, to evolutionary theory. These episodes also highlight some limitations of "conjunction narratives" centered on the relation between a discipline and the modern synthesis. A trend in conjunction narratives is to interpret any development related to evolution in a discipline as an "extension," an "integration," or as a "delayed" synthesis. I here suggest that this can lead to underestimate discontinuities in the history of evolutionary biology.

RevDate: 2020-04-23
CmpDate: 2020-04-23

Sepkoski D (2019)

The Unfinished Synthesis?: Paleontology and Evolutionary Biology in the 20th Century.

Journal of the history of biology, 52(4):687-703.

In the received view of the history of the Modern Evolutionary Synthesis, paleontology was given a prominent role in evolutionary biology thanks to the significant influence of paleontologist George Gaylord Simpson on both the institutional and conceptual development of the Synthesis. Simpson's 1944 Tempo and Mode in Evolution is considered a classic of Synthesis-era biology, and Simpson often remarked on the influence of other major Synthesis figures - such as Ernst Mayr and Theodosius Dobzhansky - on his developing thought. Why, then, did paleontologists of the 1970s and 1980s - Stephen Jay Gould, Niles Eldredge, David M. Raup, Steven Stanley, and others - so frequently complain that paleontology remained marginalized within evolutionary biology? This essay considers three linked questions: first, were paleontologists genuinely welcomed into the Synthetic project during its initial stages? Second, was the initial promise of the role for paleontology realized during the decades between 1950 and 1980, when the Synthesis supposedly "hardened" to an "orthodoxy"? And third, did the period of organized dissent and opposition to this orthodoxy by paleontologists during the 1970s and 1980s bring about a long-delayed completion to the Modern Synthesis, or rather does it highlight the wider failure of any such unified Darwinian evolutionary consensus?

RevDate: 2020-04-23
CmpDate: 2020-04-23

Plutynski A (2019)

Speciation Post Synthesis: 1960-2000.

Journal of the history of biology, 52(4):569-596.

Speciation-the origin of new species-has been one of the most active areas of research in evolutionary biology, both during, and since the Modern Synthesis. While the Modern Synthesis certainly shaped research on speciation in significant ways, providing a core framework, and set of categories and methods to work with, the history of work on speciation since the mid-twentieth century is a history of divergence and diversification. This piece traces this divergence, through both theoretical advances, and empirical insights into how different lineages, with different genetics and ecological conditions, are shaped by very different modes of diversification.

RevDate: 2020-04-20
CmpDate: 2020-04-20

Kashuba N, Kırdök E, Damlien H, et al (2019)

Ancient DNA from mastics solidifies connection between material culture and genetics of mesolithic hunter-gatherers in Scandinavia.

Communications biology, 2:185.

Human demography research in grounded on the information derived from ancient DNA and archaeology. For example, the study on the early postglacial dual-route colonisation of the Scandinavian Peninsula is largely based on associating genomic data with the early dispersal of lithic technology from the East European Plain. However, a clear connection between material culture and genetics has been lacking. Here, we demonstrate that direct connection by analysing human DNA from chewed birch bark pitch mastics. These samples were discovered at Huseby Klev in western Sweden, a Mesolithic site with eastern lithic technology. We generated genome-wide data for three individuals, and show their affinity to the Scandinavian hunter-gatherers. Our samples date to 9880-9540 calBP, expanding the temporal range and distribution of the early Scandinavian genetic group. We propose that DNA from ancient mastics can be used to study environment and ecology of prehistoric populations.

RevDate: 2020-04-16
CmpDate: 2020-04-16

Genetic Selection Evolution’s Editorial Board (2019)

GSE's 50th anniversary: where do we go from now?.

Genetics, selection, evolution : GSE, 51(1):66 pii:10.1186/s12711-019-0504-4.

RevDate: 2020-04-13
CmpDate: 2020-04-13

Berthel E, Ferlazzo ML, Devic C, et al (2019)

What Does the History of Research on the Repair of DNA Double-Strand Breaks Tell Us?-A Comprehensive Review of Human Radiosensitivity.

International journal of molecular sciences, 20(21):.

Our understanding of the molecular and cellular response to ionizing radiation (IR) has progressed considerably. This is notably the case for the repair and signaling of DNA double-strand breaks (DSB) that, if unrepaired, can result in cell lethality, or if misrepaired, can cause cancer. However, through the different protocols, techniques, and cellular models used during the last four decades, the DSB repair kinetics and the relationship between cellular radiosensitivity and unrepaired DSB has varied drastically, moving from all-or-none phenomena to very complex mechanistic models. To date, personalized medicine has required a reliable evaluation of the IR-induced risks that have become a medical, scientific, and societal issue. However, the molecular bases of the individual response to IR are still unclear: there is a gap between the moderate radiosensitivity frequently observed in clinic but poorly investigated in the publications and the hyper-radiosensitivity of rare but well-characterized genetic diseases frequently cited in the mechanistic models. This paper makes a comprehensive review of semantic issues, correlations between cellular radiosensitivity and unrepaired DSB, shapes of DSB repair curves, and DSB repair biomarkers in order to propose a new vision of the individual response to IR that would be more coherent with clinical reality.

RevDate: 2020-04-10
CmpDate: 2020-04-10

Roelcke V (2019)

Eugenic concerns, scientific practices: international relations in the establishment of psychiatric genetics in Germany, Britain, the USA and Scandinavia, c.1910-60.

History of psychiatry, 30(1):19-37.

The article describes the emergence of research programmes, institutions and activities of the early protagonists in the field of psychiatric genetics: Ernst Rüdin in Munich, Eliot Slater in London, Franz Kallmann in New York and Erik Essen-Möller in Lund. During the 1930s and well into the Nazi period, the last three had been research fellows at the German Research Institute for Psychiatry in Munich. It is documented that there was a continuous mutual exchange of scientific ideas and practices between these actors, and that in all four contexts there were intrinsic relations between eugenic motivations and genetic research, but with specific national adaptations.

RevDate: 2020-04-08
CmpDate: 2020-04-06

Xia Z, Tian J, Wang X, et al (2019)

In memory of Prof. C. C. Li.

Protein & cell, 10(6):389-392.

RevDate: 2020-04-02
CmpDate: 2020-04-02

Miranda C M, MF Alamos (2019)

[The influence of medicine in Emile Zola's "Fortune of the Rougon-Macquart"].

Revista medica de Chile, 147(10):1329-1334.

Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.

RevDate: 2020-04-01
CmpDate: 2020-04-01

Hickey J, Hill WG, Blasco A, et al (2019)

Students', colleagues' and research partners' experience about work and accomplishments from collaborating with Robin Thompson.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 136(4):301-309.

RevDate: 2020-03-31
CmpDate: 2020-03-31

Kirby T (2020)

Barbara Franke-unravelling ADHD's biology.

The lancet. Psychiatry, 7(4):310.

RevDate: 2020-03-31
CmpDate: 2020-03-31

Cox SL, Ruff CB, Maier RM, et al (2019)

Genetic contributions to variation in human stature in prehistoric Europe.

Proceedings of the National Academy of Sciences of the United States of America, 116(43):21484-21492.

The relative contributions of genetics and environment to temporal and geographic variation in human height remain largely unknown. Ancient DNA has identified changes in genetic ancestry over time, but it is not clear whether those changes in ancestry are associated with changes in height. Here, we directly test whether changes over the past 38,000 y in European height predicted using DNA from 1,071 ancient individuals are consistent with changes observed in 1,159 skeletal remains from comparable populations. We show that the observed decrease in height between the Early Upper Paleolithic and the Mesolithic is qualitatively predicted by genetics. Similarly, both skeletal and genetic height remained constant between the Mesolithic and Neolithic and increased between the Neolithic and Bronze Age. Sitting height changes much less than standing height-consistent with genetic predictions-although genetics predicts a small post-Neolithic increase that is not observed in skeletal remains. Geographic variation in stature is also qualitatively consistent with genetic predictions, particularly with respect to latitude. Finally, we hypothesize that an observed decrease in genetic heel bone mineral density in the Neolithic reflects adaptation to the decreased mobility indicated by decreased femoral bending strength. This study provides a model for interpreting phenotypic changes predicted from ancient DNA and demonstrates how they can be combined with phenotypic measurements to understand the relative contribution of genetic and developmentally plastic responses to environmental change.

RevDate: 2020-03-26
CmpDate: 2020-03-26

Azar B (2019)

QnAs with David Reich.

Proceedings of the National Academy of Sciences of the United States of America, 116(32):15752-15753.

RevDate: 2020-03-27
CmpDate: 2020-03-27

Wasant P, Padilla C, Lam S, et al (2019)

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.

American journal of medical genetics. Part C, Seminars in medical genetics, 181(2):155-165.

Putting together the reports in this issue that come from a representation of the different countries in Asia presents an opportunity to share the unique story of the Asia Pacific Society of Human Genetics (APSHG), which has provided the authors of many of these articles. This paper, authored by the Past Presidents of the Society, shares glimpses of how medical genetics activities were first organized in the Asia Pacific region and provides interesting corollaries on how under-developed and developing countries in this part of the world had developed a unique network for exchange and sharing of expertise and resources. Although APSHG was formally registered as a Society in Singapore in 2006, the Society has its origins as far back as in the 1990s with members from different countries meeting informally, exchanging ideas, and collaborating. This treatise documents the story of the experiences of the Society and hopes it will provide inspiration on how members of a genetics community can foster and build a thriving environment to promote this field.

RevDate: 2020-03-19
CmpDate: 2020-03-19

Dobson CM (2019)

Biophysical Techniques in Structural Biology.

Annual review of biochemistry, 88:25-33.

Over the past six decades, steadily increasing progress in the application of the principles and techniques of the physical sciences to the study of biological systems has led to remarkable insights into the molecular basis of life. Of particular significance has been the way in which the determination of the structures and dynamical properties of proteins and nucleic acids has so often led directly to a profound understanding of the nature and mechanism of their functional roles. The increasing number and power of experimental and theoretical techniques that can be applied successfully to living systems is now ushering in a new era of structural biology that is leading to fundamentally new information about the maintenance of health, the origins of disease, and the development of effective strategies for therapeutic intervention. This article provides a brief overview of some of the most powerful biophysical methods in use today, along with references that provide more detailed information about recent applications of each of them. In addition, this article acts as an introduction to four authoritative reviews in this volume. The first shows the ways that a multiplicity of biophysical methods can be combined with computational techniques to define the architectures of complex biological systems, such as those involving weak interactions within ensembles of molecular components. The second illustrates one aspect of this general approach by describing how recent advances in mass spectrometry, particularly in combination with other techniques, can generate fundamentally new insights into the properties of membrane proteins and their functional interactions with lipid molecules. The third reviewdemonstrates the increasing power of rapidly evolving diffraction techniques, employing the very short bursts of X-rays of extremely high intensity that are now accessible as a result of the construction of free-electron lasers, in particular to carry out time-resolved studies of biochemical reactions. The fourth describes in detail the application of such approaches to probe the mechanism of the light-induced changes associated with bacteriorhodopsin's ability to convert light energy into chemical energy.


RJR Experience and Expertise


Robbins holds BS, MS, and PhD degrees in the life sciences. He served as a tenured faculty member in the Zoology and Biological Science departments at Michigan State University. He is currently exploring the intersection between genomics, microbial ecology, and biodiversity — an area that promises to transform our understanding of the biosphere.


Robbins has extensive experience in college-level education: At MSU he taught introductory biology, genetics, and population genetics. At JHU, he was an instructor for a special course on biological database design. At FHCRC, he team-taught a graduate-level course on the history of genetics. At Bellevue College he taught medical informatics.


Robbins has been involved in science administration at both the federal and the institutional levels. At NSF he was a program officer for database activities in the life sciences, at DOE he was a program officer for information infrastructure in the human genome project. At the Fred Hutchinson Cancer Research Center, he served as a vice president for fifteen years.


Robbins has been involved with information technology since writing his first Fortran program as a college student. At NSF he was the first program officer for database activities in the life sciences. At JHU he held an appointment in the CS department and served as director of the informatics core for the Genome Data Base. At the FHCRC he was VP for Information Technology.


While still at Michigan State, Robbins started his first publishing venture, founding a small company that addressed the short-run publishing needs of instructors in very large undergraduate classes. For more than 20 years, Robbins has been operating The Electronic Scholarly Publishing Project, a web site dedicated to the digital publishing of critical works in science, especially classical genetics.


Robbins is well-known for his speaking abilities and is often called upon to provide keynote or plenary addresses at international meetings. For example, in July, 2012, he gave a well-received keynote address at the Global Biodiversity Informatics Congress, sponsored by GBIF and held in Copenhagen. The slides from that talk can be seen HERE.


Robbins is a skilled meeting facilitator. He prefers a participatory approach, with part of the meeting involving dynamic breakout groups, created by the participants in real time: (1) individuals propose breakout groups; (2) everyone signs up for one (or more) groups; (3) the groups with the most interested parties then meet, with reports from each group presented and discussed in a subsequent plenary session.


Robbins has been engaged with photography and design since the 1960s, when he worked for a professional photography laboratory. He now prefers digital photography and tools for their precision and reproducibility. He designed his first web site more than 20 years ago and he personally designed and implemented this web site. He engages in graphic design as a hobby.

963 Red Tail Lane
Bellingham, WA 98226


E-mail: RJR8222@gmail.com

Collection of publications by R J Robbins

Reprints and preprints of publications, slide presentations, instructional materials, and data compilations written or prepared by Robert Robbins. Most papers deal with computational biology, genome informatics, using information technology to support biomedical research, and related matters.

Research Gate page for R J Robbins

ResearchGate is a social networking site for scientists and researchers to share papers, ask and answer questions, and find collaborators. According to a study by Nature and an article in Times Higher Education , it is the largest academic social network in terms of active users.

Curriculum Vitae for R J Robbins

short personal version

Curriculum Vitae for R J Robbins

long standard version

RJR Picks from Around the Web (updated 11 MAY 2018 )