History Of Human Genetics Research Articles

The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia.

Peninsular Malaysia is a strategic region which might have played an important role in the initial peopling and subsequent human migrations in Asia. However, the genetic diversity and history of human populations--especially indigenous populations--inhabiting this area remain poorly understood. Here, we conducted a genome-wide study using over 900,000 single nucleotide polymorphisms (SNPs) in four major Malaysian ethnic groups (MEGs; Malay, Proto-Malay, Senoi and Negrito), and made comparisons of 17 world-wide populations. Our data revealed that Peninsular Malaysia has greater genetic diversity corresponding to its role as a contact zone of both early and recent human migrations in Asia. However, each single Orang Asli (indigenous) group was less diverse with a smaller effective population size (N(e)) than a European or an East Asian population, indicating a substantial isolation of some duration for these groups. All four MEGs were genetically more similar to Asian populations than to other continental groups, and the divergence time between MEGs and East Asian populations (12,000--6,000 years ago) was also much shorter than that between East Asians and Europeans. Thus, Malaysian Orang Asli groups, despite their significantly different features, may share a common origin with the other Asian groups. Nevertheless, we identified traces of recent gene flow from non-Asians to MEGs. Finally, natural selection signatures were detected in a batch of genes associated with immune response, human height, skin pigmentation, hair and facial morphology and blood pressure in MEGs. Notable examples include SYN3 which is associated with human height in all Orang Asli groups, a height-related gene (PNPT1) and two blood pressure-related genes (CDH13 and PAX5) in Negritos. We conclude that a long isolation period, subsequent gene flow and local adaptations have jointly shaped the genetic architectures of MEGs, and this study provides insight into the peopling and human migration history in Southeast Asia.

Human Evolutionary Genetics (2ndedition). By MarkJobling, EdwardHollox, MatthewHurles, ToomasKivisild, and ChrisTyler‐Smith. 650 pp. New York: Garland Science. 2013. $130.00 (paper).

Human Evolutionary Genetics (<i>2</i>^<i>nd</i><i>edition</i>). By MarkJobling, EdwardHollox, MatthewHurles, ToomasKivisild, and ChrisTyler‐Smith. 650 pp. New York: Garland Science. 2013. $130.00 (paper).

Wishful Thinking, The Will to Power, and Skepticism in the History of Human Genetics in the USSRA review of The Dawn of Human Genetics. By V. V. Babkov; translated by, Victor Fet; edited by, James Schwartz. Cold Spring Harbor (New York): Cold Spring Harbor Laboratory Press. $69.00. xxxii + 775 p. + 16 pl.; ill.; index. ISBN: 978-1-936113-70-5. [Originally published

Previous articleNext article No AccessNew Biological BooksWishful Thinking, The Will to Power, and Skepticism in the History of Human Genetics in the USSR A review of The Dawn of Human Genetics. By V. V. Babkov; translated by, Victor Fet; edited by, James Schwartz. Cold Spring Harbor (New York): Cold Spring Harbor Laboratory Press. $69.00. xxxii + 775 p. + 16 pl.; ill.; index. ISBN: 978-1-936113-70-5. [Originally published in Russia in 2005.] 2013.Elof Axel CarlsonElof Axel CarlsonBiochemistry & Cell Biology, Stony Brook University, Stony Brook, New York 11794 and Institute for Advanced Study, Indiana University, Bloomington, Indiana 47406 USA [email protected] Search for more articles by this author PDFPDF PLUSFull Text Add to favoritesDownload CitationTrack CitationsPermissionsReprints Share onFacebookTwitterLinkedInRedditEmail SectionsMoreDetailsFiguresReferencesCited by The Quarterly Review of Biology Volume 88, Number 4December 2013 Published in association with Stony Brook University Article DOIhttps://doi.org/10.1086/673759 Views: 16Total views on this site Copyright © 2013 by The University of Chicago Press. All rights reserved.PDF download Crossref reports no articles citing this article.

David Cox, a counsellor of geneticists

On 21 January this year, David Cox, 66, MD, PhD, a world-renowned academic, founder of two companies, Mercator Genetics and Perlegen Sciences, and senior vice president with Pfizer since 2008, suddenly passed away. He went like he was: happy, optimistic, and on a journey. He dozed off on the shuttlebus to the hotel and just never woke up. He leaves a big gap in the lives of his family of four and the countless friends and colleagues who had the privilege to know him, work with him, and regularly get his visionary, unorthodox counsel. David wasn't a cheer leader of large consortia, someone who would move an army to tackle a complex biological problem by increasing the workforce. Rather, he would work out a clever approach which might get you there by an unorthodox but valid method, and get going with a few colleagues. He was the developer of ‘radiation hybrid' mapping, yielding one of the earliest, high-resolution physical maps of the human genome.1 And later he co-founded Perlegen Sciences, which, using the Affymetrix chip technology, and in parallel to much larger and far more heavily funded academic efforts, generated a high-resolution genetic map of three world populations.2 He had an almost uncanny view around the corner of current developments in human genetics, and passionately stimulated colleagues in academia and companies, investors, and governmental agencies around the world in doing something about improving the life of patients and caregivers. He projected this vision clearly and engagingly, in seminars, advisory boards, and personal discussions in the bar or at a dinner table. He made us achieve the impossible by a simple ‘Don't worry, it'll be OK'. On the other hand, in committee meetings he could be brutally candid about pitfalls, and he could graciously annihilate scientific posturizing at conferences. In his inimitable David Cox way, walking up to the microphone and friendly summarizing in under ten words the stretch of the claim. His funny outspokenness was very refreshing. To a packed room at a public session of an ASHG meeting in his beloved home town San Francisco, he once discussed the genetic gender testing in sports, and the personal grief the new genetics sometimes brought. ‘Finally', he ended, ‘they went back to doing it how it worked so well before—by just looking at them'. David was a true world-citizen, at home in Europe, Asia, and the Americas. Travelling and lecturing, sitting on HUGO Council or other committees, he has crucially contributed to shaping the human genome project and today's large-scale genetics and biobanking. Aiming at advancing science as well as the social fabric, he was passionate about the value and vulnerability of the worlds' cultural differences, as well as about the need for public–private partnerships. In an interview in 2010, he said, ‘Call me a dreamer, but I think if you look at the people who participate in trials, or contribute to population or clinical biobanks, what they ultimately want, the reason they participate, is an altruistic one: they want to help improve society by providing the materials and data that will help scientists and companies to improve the quality of peoples' lives' (http://bbmri.nl/images/stories/hub2_web.pdf). We will sorely miss him. Starting as a paediatrician/genetic counsellor, he became a counsellor of geneticists. We gratefully acknowledge his teachings. The best way to fulfil the debt we owe him for his lifelong efforts is to continue what he has set in motion: academia, industry, the patient community, and the public at large joining forces to improve biological insights to make better treatments.

Three fingers on the switch

Krüppel-like factor 1 (KLF1) regulates most aspects of erythropoiesis. Many years ago, transgenic mouse studies implicated KLF1 in the control of the human γ-globin to β-globin switch. In this review, we will integrate these initial studies with recent developments in human genetics to discuss our present understanding of how KLF1 and its target genes direct the switch. Recent studies have shown that human mutations in KLF1 are common and mostly asymptomatic, but lead to significant increases in levels of fetal hemoglobin (HbF) (α2γ2) and adult HbA2 (α2δ2). Genome-wide association studies (GWAS) have demonstrated that three primary loci are associated with increased HbF levels in the population: the β-globin locus itself, the BCL11A locus, and a site between MYB and HBS1L. We discuss evidence that KLF1 directly regulates BCL11A, MYB and other genes, which are involved directly or indirectly in γ-globin silencing, thus providing a link between GWAS and KLF1 in hemoglobin switching. KLF1 regulates the γ-globin to β-globin genetic switch by many mechanisms. Firstly, it facilitates formation of an active chromatin hub (ACH) at the β-globin gene cluster. Specifically, KLF1 conscripts the adult-stage β-globin gene to replace the γ-globin gene within the ACH in a stage-specific manner. Secondly, KLF1 acts as a direct activator of genes that encode repressors of γ-globin gene expression. Finally, KLF1 is a regulator of many components of the cell cycle machinery. We suggest that dysregulation of these genes leads to cell cycle perturbation and 'erythropoietic stress' leading to indirect upregulation of HbF.

Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation

Full sequencing of individual human genomes has greatly expanded our understanding of human genetic variation and population history. Here, we present a systematic analysis of 50 human genomes from 11 diverse global populations sequenced at high coverage. Our sample includes 12 individuals who have admixed ancestry and who have varying degrees of recent (within the last 500 years) African, Native American, and European ancestry. We found over 21 million single-nucleotide variants that contribute to a 1.75-fold range in nucleotide heterozygosity across diverse human genomes. This heterozygosity ranged from a high of one heterozygous site per kilobase in west African genomes to a low of 0.57 heterozygous sites per kilobase in segments inferred to have diploid Native American ancestry from the genomes of Mexican and Puerto Rican individuals. We show evidence of all three continental ancestries in the genomes of Mexican, Puerto Rican, and African American populations, and the genome-wide statistics are highly consistent across individuals from a population once ancestry proportions have been accounted for. Using a generalized linear model, we identified subtle variations across populations in the proportion of neutral versus deleterious variation and found that genome-wide statistics vary in admixed populations even once ancestry proportions have been factored in. We further infer that multiple periods of gene flow shaped the diversity of admixed populations in the Americas-70% of the European ancestry in today's African Americans dates back to European gene flow happening only 7-8 generations ago.

Gendered geographies of genetic variation: sex, power and mobility in human population genetics

This article explores the ways in which geographies of human genetic variation are increasingly differentiated in terms of gender, and the ideas of reproduction, sex, power and mobility that underpin their interpretation. It thus seeks to extend recent work on the ways in which the ideas of race and relatedness are being shaped by recent accounts of human genetic variation and evolutionary history within human population genetics by exploring the gendered and sexual imaginaries of this field. At the same time, it seeks to extend feminist geographical work on social reproduction by attending to the figuring of reproduction itself. The article focuses on accounts of the geographies of Y-chromosome variation and the differences between the geographies of Y-chromosome variation and mitochondrial variation, and explores the degree to which this work is underpinned by, and potentially reinforces, particular accounts of gender, sex and the reproductive strategies of women and men. More specifically, I argue that despite some differences between the perspectives of those involved, much of this work deploys a model of male sexual competition that is at the heart of claims about the universal and determined fundamentals of reproduction, and indeed all social life, within evolutionary psychology. Gendered geographies of human genetic variation are being used as evidence for hitherto asserted but unproven claims about human nature. This article is a critical feminist engagement with the renaturalisations of culture within this strand of human population genetics.

Human population structure and the adaptive response to pathogen-induced selection pressures

The past few years of research in human evolutionary genetics have provided novel insights and questions regarding how human adaptations to recent selective pressures have taken place. Here, we review the advances most relevant to understanding human evolution in response to pathogen-induced selective pressures. Key insights come from theoretical models of adaptive evolution, particularly those that consider spatially structured populations, and from empirical population genomic studies of adaptive evolution in humans. We also review the CCR5-Δ32 HIV resistance allele as a case study of pathogen resistance in humans. Taken together, the results make clear that the human response to pathogen-induced selection pressures depends on a complex interplay between the age of the pathogen, the genetic basis of potential resistance phenotypes, and how population structure impacts the adaptive process in humans.

Online databases for mtDNA and Y chromosome polymorphisms in human populations.

This study presents an overview of online databases for mtDNA and Y chromosome polymorphisms in human populations. In order to provide readers with information which may help optimize their use, we focus on: (i) type, quantity and source of data contained; (ii) possibilities of downloading and uploading; (iii) availability of data filters and population genetics tools. We show that some of these databases offer a useful complement to the primary databases by giving access to additional data and making it possible to perform queries which exploit some specific metadata. Thereafter, we evaluate the state of the art from an evolutionary anthropologist's point of view. We suggest that online databases could become even more useful research tools by combining an easier data retrieval with quality control and by making a more extensive use of metadata regarding populations and individuals. Making population data on mtDNA and Y chromosome polymorphisms more complete, well ordered and easily accessible, we could better exploit the potential of new generation sequencing techniques for advancements in human evolutionary genetics.

Editors’ Pick: A real Caucasian and the genetic investigation of Caucasus peoples

Referring to Europeans as Caucasians, as still regularly done in the medical and less frequently in the population genetic literature, most often is not justified according to modern scientific views. This term, first mentioned in 1785 by Christoph Meiners, was picked up by Johann Friedrich Blumenbach in his 1795 suggestion of dividing the human world population into 5 groups (Caucasians, Mongolians, Ethiopians, Americans, and Malays). Nevertheless, a Caucasian classification can still be formally correct if it refers to people who originate from the Caucasus region. One real Caucasian, the molecular anthropologist Dr. Ivan (Vano) Nasidze (Figure ​(Figure1),1), recently passed away, suddenly and unexpectedly. Although this was a huge shock for everybody who knew Vano, in particular his family and his close colleagues, the way he died seemed the preferred one for many of us similarly passionate scientists who seem unable to live without scientific work. If only, however, it would occur several decades later in life than for Vano who unfortunately did not reach his 48 birthday. He died instantly while working at his office computer at the Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology Leipzig, Germany. Figure 1 Ivan (Vano) Nasidze, 1964 – 2012. Max Planck Institute for Evolutionary Anthropology. Ivan Nasidze was a real Caucasian; not only born and raised in Tblisi (Georgia), he dedicated almost all of his professional life to the genetic investigation of human population relationships and history in the Caucasus region. His latest (and now last) in a series of articles on this topic was published in September last year in the European Journal of Human Genetics[1]. Using complete mitochondrial (mt) genomes (whereas traditionally only the mtDNA control region - HV1 - is applied) Nasidze and his colleagues found astonishingly high genetic diversity with 144 different sequences and 97 haplogroups among 147 individuals tested. Strikingly, all of the Georgians, Armenians and Iranians (the latter used for comparison) had different mtDNA sequences, while for the Azeri and the Turks (the latter used for comparison) minor within-group haplotype sharing was observed. These data once again underline the extremely high genetic diversity of the Caucasus people as result of a very complex population history. Nasidze and his coauthors confirmed their previous findings that Indo-European-speaking Armenians and Turkic-speaking Azeri are more closely related genetically to Caucasian-speaking groups in the Caucasus than to other Indo-European-speaking and Turkic-speaking groups. The language shift in the Caucasus, which Nasidze’s previous work already had highlighted, was confirmed with this study. However, in contrast to his previous work using solely HV1, these whole mtDNA genome data now indicate some maternal genetic relationship between Turks and Azeri (both Turkic-speaking groups) suggesting that the language shift in the Azeri probably did involve some maternal gene flow from Turks. Hence, applying current next generation sequencing technology to anthropological questions, Nasidze with this work partly confirmed his earlier findings but also revealed new insights into the human genetic history of the Caucasus. Moreover, this study shows, as may be expected, that individuals with identical HV1 sequence are clearly differentiated based on their whole mtDNA genome data, which has significance for anthropological and also forensic studies. I will miss Vano as a friendly and cooperative colleague who was deeply committed to explore the genetic history of the Caucasus peoples with various molecular approaches (including Y-chromosomal and autosomal DNA variation). I sincerely hope that Dr. Ivan Nasidze will be remembered for his important contributions to the investigative genetics and the molecular anthropology of the Caucasus for a long time to come.

Next-generation sequencing technologies and applications for human genetic history and forensics.

Rapid advances in the development of sequencing technologies in recent years have enabled an increasing number of applications in biology and medicine. Here, we review key technical aspects of the preparation of DNA templates for sequencing, the biochemical reaction principles and assay formats underlying next-generation sequencing systems, methods for imaging and base calling, quality control, and bioinformatic approaches for sequence alignment, variant calling and assembly. We also discuss some of the most important advances that the new sequencing technologies have brought to the fields of human population genetics, human genetic history and forensic genetics.

Discovery and Resolve: The Human Genetics Society of Australasia Oration 2011*

Human genetics spans every facet of biology from molecular science, through laboratory and clinical practice, to psychology and anthropology. In each of these areas, the history of human genetics has been punctuated by paradigm shifts in knowledge. Each such new concept has been received with skepticism, often with perplexity, and sometimes with frank incredulity. Such comprise the datum milestones along the path leading to our present corpus of genetic knowledge. In parallel to the personal threats to Copernicus and Galileo in the field of astronomy in the 17th century, almost all genetic discoveries of the 19th and 20th centuries were seen as challenges to the received wisdom, and sometimes the social order, of their time and place. Researchers, scientists and clinicians encountering such new and often-heretical paradigm shifts have required considerable resolve to promote and publish their work. Just as in the field of astronomy, new directions in genetics have threatened not only the reputations and sometimes the careers of scientists, but also have been challenges to fundamental religious and sociological beliefs in society more broadly. Examples followed the discovery of biological sexual dimorphism (in plants as well as animals) by Nehemiah Grew (1641-1712). Darwinian evolution, Mendel's First and Second Laws, the existence of mitochondrial genes, apoptosis and its genetic basis, and uniparental disomy are more recent examples. Many of these new revelations, which today have led to the current understanding of fundamental biology, were discovered by individuals working in relative isolation. To promote and publish findings that fundamentally challenge received wisdom continues to require considerable resolve, if not courage. Herein lies a message for all clinicians and researchers.

When the Time Seems Ripe: Eugenics, the Annals, and the Subtle Persistence of Typological Thinking

This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objective prospered in the journal's pages from its beginning to the present day. The online availability of the original issues will be useful to those interested in the history of both eugenics and human genetics and will provide a reminder of how the careless use of genetical concepts can go astray.

Manfred Kayser

Manfred Kayser

Human genetics and genomics a decade after the release of the draft sequence of the human genome

Substantial progress has been made in human genetics and genomics research over the past ten years since the publication of the draft sequence of the human genome in 2001. Findings emanating directly from the Human Genome Project, together with those from follow-on studies, have had an enormous impact on our understanding of the architecture and function of the human genome. Major developments have been made in cataloguing genetic variation, the International HapMap Project, and with respect to advances in genotyping technologies. These developments are vital for the emergence of genome-wide association studies in the investigation of complex diseases and traits. In parallel, the advent of high-throughput sequencing technologies has ushered in the 'personal genome sequencing' era for both normal and cancer genomes, and made possible large-scale genome sequencing studies such as the 1000 Genomes Project and the International Cancer Genome Consortium. The high-throughput sequencing and sequence-capture technologies are also providing new opportunities to study Mendelian disorders through exome sequencing and whole-genome sequencing. This paper reviews these major developments in human genetics and genomics over the past decade.

Another locus, a new method

The long slow trek of scientific progress is occasionally punctuated by great leaps and quick sprints, towards an obscure finish line. Much of this forward progress has been made possible by advances in technology or experimental methods. Such developments have allowed empirical testing of an extant, previously non-testable hypothesis, or have drastically enhanced investigators’ ability to address questions by speeding the research process. This is exquisitely apparent when viewing the history of human molecular genetics. Through the development of methods that allowed typing of variable markers across the genome, disease-causing mutations were localized; the invention and improvement of DNA sequencing methods allowed individual mutations to be found; and more recently highly parallel genotyping methods have afforded the ability to perform genome-wide association studies. These and other advances have greatly enhanced the ability of scientists to find genetic variants that impart risk for—and cause—disease. The field of genetics is at the beginning of another period of rapid discovery, this time facilitated by the adoption of a novel method called exome sequencing. A handful of recent manuscripts (Choi et al. , 2009; Hedges et al. , 2009; Bilguvar et al. , 2010; Ng et al. , 2010 a , b ; Shoubridge et al. , …

Speicher, Antonarakis, Motulsky (eds): Vogel and Motulsky’s human genetics, 4th edn

Vogel & Motulsky is an unusual book. The four editions span 40 years, the first in 1970, the second in 1976, the third in 1997 and now in 2010 the fourth. Planning of this latest version stalled with the death of Friedrich Vogel in 2006. Eventually, Stylianos Antonarakis and Michael Speicher joined Arno Motulsky, and this substantial volume is the result, just short of 1,000 pages and weighing in at 2.6 kg. Maybe I should declare an interest, as co-author of the recently published fourth edition of Strachan & Read’s Human Molecular Genetics. But actually, the two books are very different. S&R is a course textbook for advanced undergraduates, and an overview of the principles for people coming into the area from another discipline who want to hit the ground running. V&M is a series of highlevel reviews, produced with the help of 76 co-authors. However, it is not the usual sort of multi-author tome that always gives me a sinking feeling, those dinosaurs of the information era, large, blundering compilations out-performed by their nimbler Internet competitors and surely overdue for extinction. The editors have done a lot more than just assemble a suitable list of authors and sit back waiting for the chapters to come in. Antonarakis and Speicher have both contributed substantial amounts of the content, at least a quarter of the total length of the book is authored or co-authored by one or other of them. It must have been a huge amount of work. From Motulsky, there are chapters on the history of human genetics and on the formal genetics of humans, both revised from the third edition, and a co-authored chapter on linkage. All three have obviously been involved in signing up a very distinguished panel of co-authors, the list is almost a Who’s Who of current human genetics. A downside (from the point of view of booksellers) of having such an A-list set of authors is that many will have written reviews on their subject that those of us with access to an academic library can read free of charge. The content is broad, but generally covers methods and applications rather than specific diseases. There is a welcome emphasis on formal genetics, which sets this book apart from most others. Chapters on monogenic, oligogenic and multifactorial inheritance go into considerable mathematical detail. This is a valuable feature, and one that will not date. It is not easy to find treatments of these topics that go beyond the basics, yet are comprehensible to nonmathematicians. Population genetics, epidemiology and aspects of evolution also get solid chapters. Another strong point of previous editions was the detailed treatment of behavioural genetics, and again this is carried through in seven chapters covering personality, mental retardation, Alzheimer disease, autism, addiction, psychoses and behavioural aspects of chromosomal variants. Inevitably, these will date, but with their extensive reference lists they will provide useful starting points for following the current literature. A new feature is a set of chapters on each of the main model organisms. Processes of mutation, on the other hand, get less attention than in the previous edition. One always wonders whether the shelf life of a book like this would justify its cost. A big book like this is not the place to try to keep up with the furious pace of technical and scientific progress. The combination of in-depth reviews of principles and a notable interest in the history of the various topics should mean it will still be worth reading in five years’ time. Most of the chapters I checked were well A. Read (&) Genetic Medicine, St Mary’s Hospital, Manchester M13 0JH, UK e-mail: Andrew.Read@man.ac.uk

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state. Although this is known to have an adverse outcome by increasing the risk of autosomal recessive disorders, this very phenomenon has also made homozygosity mapping the most robust gene discovery strategy in the recent history of human genetics. However, homozygosity mapping can also serve as an extremely powerful tool in the clinical genetics setting as well. In particular, this method is highly suited in the setting of genetically heterogeneous conditions and inborn errors of metabolism that require sophisticated biochemical testing that may not be readily available. This article is meant to highlight the clinical utility of this strategy using illustrative clinical examples from the author's own clinical genetics practice.

Tales the double helix tells

When Manfred Kayser, one of the Editors-in-Chief of this new journal, asked me to write a regular column for Investigative Genetics, I declined. We all have too much to do; I’m supposed to be writing the second edition of a textbook in a field, human evolutionary genetics, in which major papers appear with a frequency that ought to be exhilarating, but turns out to be depressing, each of them requiring major textual upheavals, and prompting us authors to wish for a moratorium on research for a couple of years to allow us to catch up. But, having agreed to do it (Manfred was persistent) the worst was to come. He held up as a model the regular ‘Comment’ columns of Greg Petsko in Genome Biology [1], and when a collection of Petsko pieces arrived in my inbox, I realised what I had to live up to–erudite, elegant, wide-ranging, witty–hell, he even has a couple of dogs who occasionally write his column for him (making his surname strangely appropriate). All I can muster in my household is an idle and decidedly nonliterate cat, a crested gecko and a variety of fish. No help there, then. I hope in the future to attract guest writers, and I invite suggestions for topics of interest from readers. And so, to work. This new journal is about DNA. Not so much about what DNA does and how it does it, but more about the tales it can tell. These are tales of relationships, or origins, or what someone looks like, or whether they will get sick or not. And just as story-telling has evolved from the campfire performance to the book, the movie, radio, TV, the blog, the e-book and the tweet, DNA’s story-telling is evolving rapidly too, under the influence of technological advance, commercialisation, the Internet, politics and a large dose of wishful thinking. For this reason, now is a particularly interesting time for a journal like this to establish itself. Forensic geneticists have traditionally dealt in relatively simple tales–this person left their blood here, or this man is this child’s father. With the introduction of familial testing, phenotype prediction, and populationof-origin estimation, the tales are becoming more embellished. There’s a danger that they could enter the realm of fantasy; a disturbing example was the ‘Human Provenance Project’ launched as a pilot scheme last September by the UK Border Agency [2] to deduce the ‘nationality’ of asylum seekers using stable-isotope and DNA-based methods. The idea that simple DNA markers respect political boundaries, and can distinguish reliably between a Kenyan and a Somalian, is both flawed and dangerous, and the project has gone quiet after a barrage of criticism from scientists and refugee support groups. However, genome-wide methods are becoming cheaper and appropriate databases will grow, so it seems unlikely that these controversial approaches will go away. Anthropological geneticists have always been storytellers, but here too there is a shift in emphasis through the rise of personal genetic testing. While something useful can usually be said at the population level, deductions about the origins of individuals, particularly when single loci such as the Y chromosome and mtDNA are used to focus upon single ancestors among many, are perilously insecure; Mark Thomas has called this ‘genetic astrology’ [3]. And yet for DNA donors, whether eager participants in television programmes, customers of testing companies, or volunteers in academic studies, personal information is what is desired. When one of our DNA donors phones and wants to know if ‘he’ is a Breton Celt, an Anglo-Saxon, or a Norse Viking, a long and tortuous discussion ensues. Nonetheless, this kind of genealogical testing represents public participation in genetics on a large scale and should be welcomed, provided conclusions are presented honestly. Current genome-wide approaches to origin stories, using SNP-chips designed for association studies, may type a million markers but to date have yielded little interesting information–showing a Frenchman to be probably French, and a German to be probably German, is hardly revelatory. A recent publication in the European Journal of Human Genetics with the striking title ‘Genes predict village of origin in rural Europe’ [4] appears to provide more promise that with suitable databases, more useful information can be extracted, Correspondence: maj4@le.ac.uk Department of Genetics, University of Leicester, Leicester, UK Jobling Investigative Genetics 2010, 1:2 http://www.investigativegenetics.com/content/1/1/2

The Liberal Gene: Sociobiology as Emancipatory Discourse in the Late Soviet Union

Sociobiology investigates all manifestations of human nature—including our moral, aesthetic, and intellectual strivings—from the perspective of evolutionary biology. In this article, Yvonne Howell examines V. P. Efroimson's controversial 1971 Novyi mir article, “The Genealogy of Altruism: Ethics from the Perspective of Human Evolutionary Genetics,” in order to point out one of the paradoxes embedded in late Soviet culture: namely, the potentially reductive and reactionary discourse of sociobiology was used instead to make a compelling argument for social pluralism, intellectual freedom, and individual moral responsibility. Howell compares the initial rejection of sociobiology by liberals in the west with the valorization of Efroimson's evolutionary ethics among a broad spectrum of the liberal, educated public in late USSR. She shows how Efroimson updated the “evolutionary humanism” championed by Soviet geneticists in the 1920s to challenge enduring Brezhnev-era dogma about the malleability of human nature. This account indicates a trajectory from earlier tensions between disciplining scripts for selfhood typical of Soviet modernism and alternative narratives (both humanistic and biological) for an ethics based on autonomous individual self-scripting.