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Bibliography on: History of Genetics

The Electronic Scholarly Publishing Project: Providing world-wide, free access to classic scientific papers and other scholarly materials, since 1993.


ESP: PubMed Auto Bibliography 19 Sep 2018 at 01:37 Created: 

History of Genetics

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

Citations The Papers (from PubMed®)

RevDate: 2018-09-18
CmpDate: 2018-09-18

Chen SL (2017)

Virulence profile: Swaine L. Chen.

Virulence, 8(5):494-496.

RevDate: 2018-09-10
CmpDate: 2018-09-10

Calabrese EJ (2017)

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.

Philosophy, ethics, and humanities in medicine : PEHM, 12(1):8 pii:10.1186/s13010-017-0050-z.

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.

RevDate: 2018-09-04
CmpDate: 2018-09-04

Rose JP, Kleist TJ, Löfstrand SD, et al (2018)

Phylogeny, historical biogeography, and diversification of angiosperm order Ericales suggest ancient Neotropical and East Asian connections.

Molecular phylogenetics and evolution, 122:59-79.

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.

RevDate: 2018-09-04
CmpDate: 2018-09-04

O'Donnell MA (2016)

Job Dekker: Hitting the scientific hi-Cs.

The Journal of cell biology, 215(4):434-435.

RevDate: 2018-09-04
CmpDate: 2018-09-04

Casadio M (2016)

Fanni Gergely: Exploring centrosome biology.

The Journal of cell biology, 215(3):294-295.

RevDate: 2018-08-31
CmpDate: 2018-08-31

Neill US (2016)

A conversation with Bruce Alberts.

The Journal of clinical investigation, 126(12):4391-4392.

RevDate: 2018-08-31
CmpDate: 2018-08-31

Jackson S (2016)

The 2016 Lasker~Koshland Special Achievement Award recognizes Bruce Alberts' lifelong dedication to research, policy, and education.

The Journal of clinical investigation, 126(10):3645-3650.

RevDate: 2018-08-29
CmpDate: 2018-08-29

Hill WG (2018)

Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(2):93-94.

RevDate: 2018-08-29
CmpDate: 2018-08-29

James JW (2018)

A century later.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(1):1-2.

RevDate: 2018-08-29
CmpDate: 2018-08-29

Simianer H, Rosa GJM, A Mäki-Tanila (2017)

Special Issue: Quantitative and statistical genetics-papers in honour of Daniel Gianola.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 134(3):173-174.

RevDate: 2018-08-29
CmpDate: 2018-08-29

Sorensen D, G de Los Campos (2017)

Daniel Gianola's contributions to animal breeding and quantitative genetics, a vuelo de pájaro.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 134(3):175-177.

RevDate: 2018-08-24
CmpDate: 2018-08-24

Carter AM (2018)

Classics revisited: Miguel Fernández on germ layer inversion and specific polyembryony in armadillos.

Placenta, 61:55-60.

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.

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).

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.

RevDate: 2018-08-24
CmpDate: 2018-08-24

Besser J, Carleton HA, Gerner-Smidt P, et al (2018)

Next-generation sequencing technologies and their application to the study and control of bacterial infections.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases, 24(4):335-341.

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.

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.

SOURCES: Peer-reviewed literature, white papers and meeting reports.

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.

RevDate: 2018-08-16
CmpDate: 2018-08-16

Creager ANH (2017)

A Chemical Reaction to the Historiography of Biology.

Ambix, 64(4):343-359.

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.

RevDate: 2018-08-15
CmpDate: 2018-08-15

Doctrow B (2018)

QnAs with Howard Y. Chang.

Proceedings of the National Academy of Sciences of the United States of America, 115(19):4805-4806.

RevDate: 2018-08-14
CmpDate: 2018-08-14

Kinzler K, B Vogelstein (2016)

Necessity Is the Mother of Invention: The Development of Digital Genomics.

Clinical chemistry, 62(12):1668-1669.

RevDate: 2018-08-13
CmpDate: 2018-08-13

Anonymous (2017)

Gerald E. McClearn 1927-2017: A Founding Father of Behavioral Genetics.

Behavior genetics, 47(3):263-264.

RevDate: 2018-08-01
CmpDate: 2018-08-01

Kolchinsky EI, Kutschera U, Hossfeld U, et al (2017)

Russia's new Lysenkoism.

Current biology : CB, 27(19):R1042-R1047.

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.

RevDate: 2018-07-30
CmpDate: 2018-07-30

Rao V (2017)

J. B. S. Haldane and Journal of Genetics.

Journal of genetics, 96(5):855-864.

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.

RevDate: 2018-07-30
CmpDate: 2018-07-30

Mcouat G (2017)

J. B. S. Haldane's passage to India: reconfiguring science.

Journal of genetics, 96(5):845-852.

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).

RevDate: 2018-07-30
CmpDate: 2018-07-30

Damodaran V (2017)

Janaki Ammal, C. D. Darlington and J. B. S. Haldane: scientific encounters at the end of empire.

Journal of genetics, 96(5):827-836.

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.

RevDate: 2018-07-30
CmpDate: 2018-07-30

Rao V (2017)

Haldane's view of natural selection.

Journal of genetics, 96(5):765-772.

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.

RevDate: 2018-07-24
CmpDate: 2018-07-24

Rosbash M (2017)

A 50-Year Personal Journey: Location, Gene Expression, and Circadian Rhythms.

Cold Spring Harbor perspectives in biology, 9(12): pii:cshperspect.a032516.

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, "location, location, location."

RevDate: 2018-07-23
CmpDate: 2018-07-23

Silva L (2018)

A Brief History of Biochemical Genetics' 50 Years and a Reflection About Past and Present Research Directions.

Biochemical genetics, 56(1-2):1-6.

RevDate: 2018-07-20
CmpDate: 2018-07-20

Ravindran S (2018)

Profile of Scott W. Lowe.

Proceedings of the National Academy of Sciences of the United States of America, 115(4):630-632.

RevDate: 2018-07-20
CmpDate: 2018-07-20

Yan W, Huang B, Ruan L, et al (2017)

Dr. Chi-Ming Chu: Respected founder of molecular virology and pioneer of biologicals in China.

Protein & cell, 8(9):629-633.

RevDate: 2018-07-08
CmpDate: 2018-07-05

Weinberg SM, Cornell R, EJ Leslie (2018)

Craniofacial genetics: Where have we been and where are we going?.

PLoS genetics, 14(6):e1007438 pii:PGENETICS-D-18-00895.

RevDate: 2018-04-02
CmpDate: 2018-04-02

Ferguson-Smith AC, MS Bartolomei (2018)

Obituary: Denise Barlow (1950-2017).

Development (Cambridge, England), 145(5): pii:145/5/dev164616.

Anne Ferguson-Smith and Marisa Bartolomei look back at the life and science of Denise Barlow, a pioneer in genomic imprinting and epigenetics.

RevDate: 2018-06-25
CmpDate: 2018-06-25

Rusu I, Modi A, Vai S, et al (2018)

Maternal DNA lineages at the gate of Europe in the 10th century AD.

PloS one, 13(3):e0193578 pii:PONE-D-17-33927.

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.

RevDate: 2018-03-13
CmpDate: 2018-03-12

Singh J (2017)

Amar Klar: A giant among scientists (1947-2017).

Journal of biosciences, 42(3):355-357.

RevDate: 2018-05-11
CmpDate: 2018-05-11

Collier RJ, DE Bauman (2017)

TRIENNIAL LACTATION SYMPOSIUM/BOLFA:Historical perspectives of lactation biology in the late 20th and early 21st centuries.

Journal of animal science, 95(12):5639-5652.

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.

RevDate: 2018-04-18
CmpDate: 2018-04-18

Jager MJ (2017)

Introducing Johanna M. Seddon, the 2017 Recipient of the Mildred Weisenfeld Award.

Investigative ophthalmology & visual science, 58(14):6510-6512.

RevDate: 2018-03-23
CmpDate: 2018-01-15

Chenette EJ (2017)

Announcing the winners of our 50th Anniversary Science Communication Competition.

The FEBS journal, 284(24):4172-4173.

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!

RevDate: 2018-05-09
CmpDate: 2018-05-09

Cornish VW (2017)

Ronald Breslow (1931-2017).

Nature, 552(7684):176.

RevDate: 2018-02-13
CmpDate: 2018-02-13

Raskó I, E Horváth (2017)

[Professor George Szemere (1931-2016) founder of the first regional genetic counselling service in Hungary].

Orvosi hetilap, 158(50):2003-2006.

RevDate: 2018-06-25
CmpDate: 2018-06-25

Weiss TM (2017)

Small Angle Scattering: Historical Perspective and Future Outlook.

Advances in experimental medicine and biology, 1009:1-10.

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.

RevDate: 2018-05-04
CmpDate: 2017-12-27

Cope AP, Barnes MR, Belson A, et al (2018)

The RA-MAP Consortium: a working model for academia-industry collaboration.

Nature reviews. Rheumatology, 14(1):53-60.

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.

RevDate: 2018-07-18
CmpDate: 2018-07-18

Hoskins SG (2017)

Inside the Literature: An Interview with Sally G. Hoskins, 2017 Recipient of the Elizabeth W. Jones Award for Excellence in Education.

Genetics, 207(4):1223-1225.

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

RevDate: 2018-07-18
CmpDate: 2018-07-18

Kingsley DM (2017)

Beautiful Piles of Bones: An Interview with 2017 Genetics Society of America Medal Recipient David M. Kingsley.

Genetics, 207(4):1221-1222.

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

RevDate: 2018-07-18
CmpDate: 2018-07-18

Hodgkin J (2017)

Frontiers of Knowledge: An Interview with 2017 Edward Novitski Prize Recipient Jonathan Hodgkin.

Genetics, 207(4):1219-1220.

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.

RevDate: 2018-07-18
CmpDate: 2018-07-18

Gerbi SA (2017)

Treasure Your Exceptions: An Interview with 2017 George Beadle Award Recipient Susan A. Gerbi.

Genetics, 207(4):1215-1217.

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

RevDate: 2018-07-18
CmpDate: 2018-07-18

Lewontin RC (2017)

Random Factors: An Interview with 2017 Thomas Hunt Morgan Medal Recipient Richard C. Lewontin.

Genetics, 207(4):1213-1214.

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.

RevDate: 2018-03-29
CmpDate: 2018-03-29

Dolgin E (2017)

The most popular genes in the human genome.

Nature, 551(7681):427-431.

RevDate: 2018-06-11
CmpDate: 2018-06-11

Anonymous (2017)

[Academician Andrey Dar'evich Mirzabekov (to the 80th anniversary)].

Molekuliarnaia biologiia, 51(5):747-751.

RevDate: 2018-07-05
CmpDate: 2018-07-05

Nicoglou A, F Merlin (2017)

Epigenetics: A way to bridge the gap between biological fields.

Studies in history and philosophy of biological and biomedical sciences, 66:73-82.

The concept of epigenetics has evolved since Waddington defined it from the late 1930s as the study of the causal mechanisms at work in development. It has become a multi-faceted notion with different meanings, depending on the disciplinary context it is used. In this article, we first analyse the transformations of the concept of epigenetics, from Waddington to contemporary accounts, in order to identify its different meanings and traditions, and to come up with a typology of epigenetics throughout its history. Second, we show on this basis that epigenetics has progressively turned its main focus from biological problems regarding development, toward issues concerning evolution. Yet, both these different epistemological aspects of epigenetics still coexist. Third, we claim that the classical opposition between epigenesis and preformationism as ways of thinking about the developmental process is part of the history of epigenetics and has contributed to its current various meanings. With these objectives in mind, we first show how Waddington introduced the term "epigenetics" in a biological context in order to solve a developmental problem, and we then build on this by presenting Nanney's, Riggs' and Holliday's definitions, which form the basis for the current conception of "molecular epigenetics". Then, we show that the evo-devo research field is where some particular uses of epigenetics have started shifting from developmental issues to evolutionary problems. We also show that epigenetics has progressively focused on the issue of epigenetic inheritance within the Extended Evolutionary Synthesis' framework. Finally, we conclude by presenting a typology of the different conceptions of epigenetics throughout time, and analyse the connections between them. We argue that, since Waddington, epigenetics, as an integrative research area, has been used to bridge the gap between different biological fields.

RevDate: 2018-06-12
CmpDate: 2018-06-12

Jordan B (2017)

[Cancer: three eras of personalized medicine].

Medecine sciences : M/S, 33(10):905-908.

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.

RevDate: 2018-04-16
CmpDate: 2018-04-16

Anonymous (2017)

Ingemar Gustavsson (1938-2016).

Cytogenetic and genome research, 152(4):167-168.

RevDate: 2018-05-31
CmpDate: 2018-05-31

Heard E, N Brockdorff (2017)


Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 372(1733):.

RevDate: 2017-11-30
CmpDate: 2017-11-30

Anonymous (2017)

Preface to glyco-neuroscience.

Biochimica et biophysica acta, 1861(10):2417-2419.

RevDate: 2017-12-22
CmpDate: 2017-09-26

Chomet P, R Martienssen (2017)

Barbara McClintock's Final Years as Nobelist and Mentor: A Memoir.

Cell, 170(6):1049-1054.

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.

RevDate: 2017-12-13
CmpDate: 2017-12-07

Zhang H, Chen W, K Sun (2017)

Mendelism: New Insights from Gregor Mendel's Lectures in Brno.

Genetics, 207(1):1-8.

Interpretation of Gregor Mendel's work has previously been based on study of his published paper "Experiments in Plant Hybridization." 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.

RevDate: 2018-06-04
CmpDate: 2018-06-04

Anonymous (2017)

Dr Fauconnier talks to genomics expert, Prof. McCarthy.

Cardiovascular research, 113(8):e26.

RevDate: 2017-08-14
CmpDate: 2017-08-14

Harper PS (2018)

Human genetics in troubled times and places.

Hereditas, 155:7 pii:42.

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.

RevDate: 2018-04-09
CmpDate: 2018-04-09

Lane R (2017)

Fowzan Alkuraya: leading light in Saudi Human Genome Program.

Lancet (London, England), 390(10093):446.

RevDate: 2018-06-01
CmpDate: 2018-06-01

Griswold A (2017)

Profile of Nahum Sonenberg.

Proceedings of the National Academy of Sciences of the United States of America, 114(34):8905-8907.

RevDate: 2018-02-06
CmpDate: 2018-02-06

García-Sáinz JA (2017)

[Conference Dr. Ignacio Chávez. Moving towards molecular medicine].

Gaceta medica de Mexico, 153(3):379-382.

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.

RevDate: 2018-02-08
CmpDate: 2018-02-08

Szymanski M, J Barciszewski (2017)

The path to the genetic code.

Biochimica et biophysica acta, 1861(11 Pt A):2674-2679.

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.

RevDate: 2017-08-17
CmpDate: 2017-08-17

Wood RJ (2016)

News of the Profession: Eloge.

Isis; an international review devoted to the history of science and its cultural influences, 107(3):597-600.

RevDate: 2018-02-15
CmpDate: 2018-02-15

McMurry MT, MS Krangel (2017)

Pillars Article: A Role for Histone Acetylation in the Developmental Regulation of V(D)J Recombination. Science. 2000. 287: 495-498.

Journal of immunology (Baltimore, Md. : 1950), 199(1):5-8.

RevDate: 2018-03-19
CmpDate: 2017-09-13

Casadio M (2017)

Andrea Ventura: Decrypting noncoding RNAs.

The Journal of cell biology, 216(7):1866-1867.

Ventura explores the biological functions of noncoding RNAs in cancer and development.

RevDate: 2018-01-22
CmpDate: 2017-07-14

Hinderlich S, Tauber R, Bertozzi CR, et al (2017)

Werner Reutter: A Visionary Pioneer in Molecular Glycobiology.

Chembiochem : a European journal of chemical biology, 18(13):1141-1145.

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.

RevDate: 2018-04-07
CmpDate: 2018-04-03

Zhang C, Lu Y, Feng Q, et al (2017)

Differentiated demographic histories and local adaptations between Sherpas and Tibetans.

Genome biology, 18(1):115 pii:10.1186/s13059-017-1242-y.

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.

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.

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.

RevDate: 2018-06-01
CmpDate: 2017-07-11

Strauss BS (2017)

A Physicist's Quest in Biology: Max Delbrück and "Complementarity".

Genetics, 206(2):641-650.

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 "complementarity." 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.

RevDate: 2018-05-29
CmpDate: 2018-05-29

Barrangou R, P Horvath (2017)

A decade of discovery: CRISPR functions and applications.

Nature microbiology, 2:17092 pii:nmicrobiol201792.

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.

RevDate: 2018-04-05
CmpDate: 2018-04-05

Jost J (2017)

Relations and dependencies between morphological characters.

Theory in biosciences = Theorie in den Biowissenschaften, 136(1-2):69-83.

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.

RevDate: 2017-10-27
CmpDate: 2017-10-27

Skalka AMA (2017)

Finding, Conducting, and Nurturing Science: A Virologist's Memoir.

Annual review of virology, 4(1):1-35.

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 "extracurricular" 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.

RevDate: 2018-06-13
CmpDate: 2018-06-01

Singh V, Gohil N, Ramírez García R, et al (2018)

Recent Advances in CRISPR-Cas9 Genome Editing Technology for Biological and Biomedical Investigations.

Journal of cellular biochemistry, 119(1):81-94.

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.

RevDate: 2018-03-27
CmpDate: 2018-02-22

Hayes S, Mahony J, Nauta A, et al (2017)

Metagenomic Approaches to Assess Bacteriophages in Various Environmental Niches.

Viruses, 9(6): pii:v9060127.

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.

RevDate: 2018-07-16
CmpDate: 2018-07-16

Pigeard-Micault N, G Gachelin (2017)


Canadian bulletin of medical history = Bulletin canadien d'histoire de la medecine, 34(2):465-495.

RevDate: 2017-08-29
CmpDate: 2017-08-29

Cramer P (2017)

Structural Molecular Biology-A Personal Reflection on the Occasion of John Kendrew's 100th Birthday.

Journal of molecular biology, 429(17):2603-2610.

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.

RevDate: 2018-07-02
CmpDate: 2018-07-02

Virasami A, Farndon SJ, McDermott U, et al (2017)

Molecular diagnoses of century-old childhood tumours.

The Lancet. Oncology, 18(5):e237.

RevDate: 2017-09-19
CmpDate: 2017-09-19

Vahia MN, Yadav N, Ladiwala U, et al (2017)

A diffusion based study of population dynamics: Prehistoric migrations into South Asia.

PloS one, 12(5):e0176985 pii:PONE-D-16-45074.

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.

RevDate: 2018-05-01
CmpDate: 2017-07-11

Goldman IL (2017)

William Friedman, Geneticist Turned Cryptographer.

Genetics, 206(1):1-8.

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 "Baconian cipher," 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.

RevDate: 2018-04-04
CmpDate: 2018-04-04

Clarage J (2017)

The fuzzy image.

Journal of structural biology, 200(3):204-212.

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.

RevDate: 2018-04-24
CmpDate: 2018-04-24

Cooper L (2017)

Profile of Ian A. Wilson.

Proceedings of the National Academy of Sciences of the United States of America, 114(19):4848-4850.

RevDate: 2017-08-29
CmpDate: 2017-08-29

Wassarman PM (2017)

A Personal Perspective: My Four Encounters with John Kendrew.

Journal of molecular biology, 429(17):2594-2600.

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.

RevDate: 2018-04-24
CmpDate: 2018-04-24

Reed JC, BJ Druker (2017)

Peter C. Nowell (1928-2016).

Proceedings of the National Academy of Sciences of the United States of America, 114(18):4569-4570.

RevDate: 2018-07-09
CmpDate: 2018-07-09

Anaya-Muñoz VH, García-Deister V, E Suárez-Díaz (2017)

Flattening and Unpacking Human Genetic Variation in Mexico, Postwar to Present.

Science in context, 30(1):89-112.

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.

RevDate: 2017-10-19
CmpDate: 2017-10-19

Suzuki TK (2017)

On the Origin of Complex Adaptive Traits: Progress Since the Darwin Versus Mivart Debate.

Journal of experimental zoology. Part B, Molecular and developmental evolution, 328(4):304-320.

The evolutionary origin of complex adaptive traits has been a controversial topic in the history of evolutionary biology. Although Darwin argued for the gradual origins of complex adaptive traits within the theory of natural selection, Mivart insisted that natural selection could not account for the incipient stages of complex traits. The debate starting from Darwin and Mivart eventually engendered two opposite views: gradualism and saltationism. Although this has been a long-standing debate, the issue remains unresolved. However, recent studies have interrogated classic examples of complex traits, such as the asymmetrical eyes of flatfishes and leaf mimicry of butterfly wings, whose origins were debated by Darwin and Mivart. Here, I review recent findings as a starting point to provide a modern picture of the evolution of complex adaptive traits. First, I summarize the empirical evidence that unveils the evolutionary steps toward complex traits. I then argue that the evolution of complex traits could be understood within the concept of "reducible complexity." Through these discussions, I propose a conceptual framework for the formation of complex traits, named as reducible-composable multicomponent systems, that satisfy two major characteristics: reducibility into a sum of subcomponents and composability to construct traits from various additional and combinatorial arrangements of the subcomponents. This conceptual framework provides an analytical foundation for exploring evolutionary pathways to build up complex traits. This review provides certain essential avenues for deciphering the origin of complex adaptive traits.

RevDate: 2017-11-29
CmpDate: 2017-11-29

Carey JC, EB Clark (2017)

Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.

American journal of medical genetics. Part A, 173(5):1143-1144.

RevDate: 2018-06-08
CmpDate: 2017-08-10

Reardon J, Ankeny RA, Bangham J, et al (2016)

Bermuda 2.0: reflections from Santa Cruz.

GigaScience, 5(1):1-4.

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, "openness" has become an increasingly complex issue. This commentary seeks to articulate three core challenges data-sharing faces today.

RevDate: 2018-04-01
CmpDate: 2017-05-18

Portin P, A Wilkins (2017)

The Evolving Definition of the Term "Gene".

Genetics, 205(4):1353-1364.

This paper presents a history of the changing meanings of the term "gene," over more than a century, and a discussion of why this word, so crucial to genetics, needs redefinition today. In this account, the first two phases of 20th century genetics are designated the "classical" and the "neoclassical" periods, and the current molecular-genetic era the "modern period." While the first two stages generated increasing clarity about the nature of the gene, the present period features complexity and confusion. Initially, the term "gene" was coined to denote an abstract "unit of inheritance," to which no specific material attributes were assigned. As the classical and neoclassical periods unfolded, the term became more concrete, first as a dimensionless point on a chromosome, then as a linear segment within a chromosome, and finally as a linear segment in the DNA molecule that encodes a polypeptide chain. This last definition, from the early 1960s, remains the one employed today, but developments since the 1970s have undermined its generality. Indeed, they raise questions about both the utility of the concept of a basic "unit of inheritance" and the long implicit belief that genes are autonomous agents. Here, we review findings that have made the classic molecular definition obsolete and propose a new one based on contemporary knowledge.

RevDate: 2018-05-07
CmpDate: 2018-05-07

Stamhuis IH, AB Vogt (2017)

Discipline building in Germany: women and genetics at the Berlin Institute for Heredity Research.

British journal for the history of science, 50(2):267-295.

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.

RevDate: 2017-10-18
CmpDate: 2017-10-18

Hall JG (2017)

The Clinic Is My Laboratory: Life as a Clinical Geneticist.

Annual review of genomics and human genetics, 18:1-29.

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.

RevDate: 2017-12-01
CmpDate: 2017-12-01

Resta RG (2017)

In Memoriam: Laurence E. Karp (1939-2016).

American journal of medical genetics. Part A, 173(4):1007-1008.

RevDate: 2017-12-05
CmpDate: 2017-12-05

Gartler SM (2017)

2016 Victor A. McKusick Leadership Award.

American journal of human genetics, 100(3):403-405.

RevDate: 2017-12-05
CmpDate: 2017-12-05

Jarvik GP (2017)

2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler.

American journal of human genetics, 100(3):401-402.

RevDate: 2017-12-05
CmpDate: 2017-12-05

Lee B (2017)

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.

American journal of human genetics, 100(3):397-400.

RevDate: 2017-12-05
CmpDate: 2017-12-05

Beaudet AL (2017)

2016 Curt Stern Award Introduction: Brendan Lee.

American journal of human genetics, 100(3):395-396.

RevDate: 2018-03-13
CmpDate: 2017-12-05

Gusella JF (2017)

2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.

American journal of human genetics, 100(3):387-394.

RevDate: 2017-12-05
CmpDate: 2017-12-05

Nelson DL (2017)

2016 William Allan Award Introduction: James Gusella.

American journal of human genetics, 100(3):385-386.

RevDate: 2017-08-22
CmpDate: 2017-08-22

Pollegioni P, Woeste K, Chiocchini F, et al (2017)

Rethinking the history of common walnut (Juglans regia L.) in Europe: Its origins and human interactions.

PloS one, 12(3):e0172541 pii:PONE-D-16-38047.

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.

RevDate: 2017-10-31
CmpDate: 2017-10-31

Greene MI, JS Moore (2017)

Peter C. Nowell (1928-2016).

Science (New York, N.Y.), 355(6328):913.

RevDate: 2017-11-28
CmpDate: 2017-11-20

Stafford N (2017)

Herman Vanden Berghe.

BMJ (Clinical research ed.), 356:j1056.

RevDate: 2017-12-18
CmpDate: 2017-12-18

Quinlan RA (2017)

The eye lens - a paradigm for healthy living.

Experimental eye research, 156:1-2.

RevDate: 2018-02-26
CmpDate: 2018-02-26

Crawford MH (2017)

Obituary: Derek F. Roberts (1925-2016).

American journal of physical anthropology, 162(4):613-615.

RevDate: 2017-06-19
CmpDate: 2017-06-19

Kucherlapati R (2017)

Oliver Smithies (1925-2017).

Nature, 542(7640):166.

RevDate: 2018-06-11
CmpDate: 2018-06-11

Thirumalai D (2017)

Theory and computations in biology: Kamal's legacy.

Physical biology, 14(1):010401.

RevDate: 2018-06-11
CmpDate: 2018-06-11

Frauenfelder H (2017)

Physical concepts in biology-past and future.

Physical biology, 14(1):010402.

RevDate: 2017-12-18
CmpDate: 2017-12-18

Piatigorsky J, Bassnett S, McAvoy J, et al (2017)

David C. Beebe, 1944-2015, in memoriam.

Experimental eye research, 156:3-4.


ESP Quick Facts

ESP Origins

In the early 1990's, Robert Robbins was a faculty member at Johns Hopkins, where he directed the informatics core of GDB — the human gene-mapping database of the international human genome project. To share papers with colleagues around the world, he set up a small paper-sharing section on his personal web page. This small project evolved into The Electronic Scholarly Publishing Project.

ESP Support

In 1995, Robbins became the VP/IT of the Fred Hutchinson Cancer Research Center in Seattle, WA. Soon after arriving in Seattle, Robbins secured funding, through the ELSI component of the US Human Genome Project, to create the original ESP.ORG web site, with the formal goal of providing free, world-wide access to the literature of classical genetics.

ESP Rationale

Although the methods of molecular biology can seem almost magical to the uninitiated, the original techniques of classical genetics are readily appreciated by one and all: cross individuals that differ in some inherited trait, collect all of the progeny, score their attributes, and propose mechanisms to explain the patterns of inheritance observed.

ESP Goal

In reading the early works of classical genetics, one is drawn, almost inexorably, into ever more complex models, until molecular explanations begin to seem both necessary and natural. At that point, the tools for understanding genome research are at hand. Assisting readers reach this point was the original goal of The Electronic Scholarly Publishing Project.

ESP Usage

Usage of the site grew rapidly and has remained high. Faculty began to use the site for their assigned readings. Other on-line publishers, ranging from The New York Times to Nature referenced ESP materials in their own publications. Nobel laureates (e.g., Joshua Lederberg) regularly used the site and even wrote to suggest changes and improvements.

ESP Content

When the site began, no journals were making their early content available in digital format. As a result, ESP was obliged to digitize classic literature before it could be made available. For many important papers — such as Mendel's original paper or the first genetic map — ESP had to produce entirely new typeset versions of the works, if they were to be available in a high-quality format.

ESP Help

Early support from the DOE component of the Human Genome Project was critically important for getting the ESP project on a firm foundation. Since that funding ended (nearly 20 years ago), the project has been operated as a purely volunteer effort. Anyone wishing to assist in these efforts should send an email to Robbins.

ESP Plans

With the development of methods for adding typeset side notes to PDF files, the ESP project now plans to add annotated versions of some classical papers to its holdings. We also plan to add new reference and pedagogical material. We have already started providing regularly updated, comprehensive bibliographies to the ESP.ORG site.

Electronic Scholarly Publishing
21454 NE 143rd Street
Woodinville, WA 98077

E-mail: RJR8222 @

Papers in Classical Genetics

The ESP began as an effort to share a handful of key papers from the early days of classical genetics. Now the collection has grown to include hundreds of papers, in full-text format.

Digital Books

Along with papers on classical genetics, ESP offers a collection of full-text digital books, including many works by Darwin (and even a collection of poetry — Chicago Poems by Carl Sandburg).


ESP now offers a much improved and expanded collection of timelines, designed to give the user choice over subject matter and dates.


Biographical information about many key scientists.

Selected Bibliographies

Bibliographies on several topics of potential interest to the ESP community are now being automatically maintained and generated on the ESP site.

ESP Picks from Around the Web (updated 07 JUL 2018 )