Not an innocent pursuit: the politics of a 'Jewish' genetic signature

This commentary questions the presumption in genetic research that a biological connection exists between populations identified as Jewish. The author emphasises that identifying individuals as Jewish based on biological criteria is a sociological process that can draw attention away from other social mechanisms affecting identity construction. She also encourages critical consideration of the possible racialised thinking behind genetic anthropology studies, and the language used to express genetic findings. In conclusion, she calls for a radical cultural shift in the kind of knowledge valued as significant, relevant, and beneficial to the people on whom genetic ancestry studies are carried out and she asks for attention to the political contexts surrounding all such research.     

Genetic Ancestry,Social Classification,and Racial Inequalities in Blood Pressure in Southeastern Puerto Rico

Background

The role of race in human genetics and biomedical research is among the most contested issues in science. Much debate centers on the relative importance of genetic versus sociocultural factors in explaining racial inequalities in health. However, few studies integrate genetic and sociocultural data to test competing explanations directly.

Methodology/Principal Findings

We draw on ethnographic, epidemiologic, and genetic data collected in southeastern Puerto Rico to isolate two distinct variables for which race is often used as a proxy: genetic ancestry versus social classification. We show that color, an aspect of social classification based on the culturally defined meaning of race in Puerto Rico, better predicts blood pressure than does a genetic-based estimate of continental ancestry. We also find that incorporating sociocultural variables reveals a new and significant association between a candidate gene polymorphism for hypertension (α_2C adrenergic receptor deletion) and blood pressure.

Conclusions/Significance

This study addresses the recognized need to measure both genetic and sociocultural factors in research on racial inequalities in health. Our preliminary results provide the most direct evidence to date that previously reported associations between genetic ancestry and health may be attributable to sociocultural factors related to race and racism, rather than to functional genetic differences between racially defined groups. Our results also imply that including sociocultural variables in future research may improve our ability to detect significant allele-phenotype associations. Thus, measuring sociocultural factors related to race may both empower future genetic association studies and help to clarify the biological consequences of social inequalities.     

Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans

Admixed populations such as African Americans and Hispanic Americans present both challenges and opportunities in genetic epidemiologic research. Because of variation in admixture levels among individuals, case-control association studies may be subject to stratification bias. On the other hand, admixed populations also present special opportunities both for examining the role of genetic and environmental factors for observed racial/ethnic differences, and for possibly mapping alleles that contribute to such differences. Here we examined the distribution and relationship of individual admixture (IA) estimates with BMI and three measures of blood pressure in two admixed populations in the NHLBI Family Blood Pressure Program (FBPP): African Americans and Mexican Americans. For the African Americans, we observed modest but significant differences in average African IA among four recruitment sites. We observed a slight excess of African IA among hypertensives compared to normotensives, and a positive (non-significant) regression of African IA on blood pressure in untreated participants. Within Mexican Americans, we found no difference in average IA between hypertensives and normotensives, but a positive (marginally significant) regression of African IA on diastolic blood pressure. We also observed a significant positive regression of Caucasian IA (and negative regression of Native American IA) on BMI. Our results are suggestive of genetic differences between Africans and non-Africans that influence blood pressure, but such effects are likely to be modest compared to environmental ones. Excess obesity among Native Americans compared to whites is not consistent with a simple genetic explanation.     

An Examination of the Relationship between Lipid Levels and Associated Genetic Markers across Racial/Ethnic Populations in the Multi-Ethnic Study of Atherosclerosis

Large genome-wide association studies have reported hundreds of genetic markers associated with lipid levels. However, the discovery and estimated effect of variants at these loci, derived from samples of exclusively European descent, may not generalize to the majority of the world populations. We examined the collective strength of association among these loci in a diverse set of U.S. populations from the Multi-Ethnic Study of Atherosclerosis. We constructed a genetic risk score for each lipid outcome based on previously identified lipid-associated genetic markers, and examined the relationship between the genetic risk scores and corresponding outcomes. We discover this relationship was often moderated by race/ethnicity. Our findings provide insight into the generalizability and predictive utility of large sample size meta-analyses results when leveraging data from a single population. We hope these findings will encourage researchers to investigate genetic susceptibility in more diverse populations and explore the source of such discrepancies. Until then, we caution clinicians, genetic counselors, and genetic testing consumers when interpreting genetic data on complex traits.     

Racial and ethnic variations in knowledge and attitudes about genetic testing

This study was designed to shed light on whether differences in utilization of genetic testing by African-Americans, Latinos, and non-Hispanic Whites are due primarily to different preferences, or whether they instead reflect other values and beliefs or differential access. It explores the values, attitudes, and beliefs of African-Americans, Latinos, and non-Hispanic Whites with respect to genetic testing by means of a telephone survey of representative samples of these three groups. The study finds clear evidence that Latinos and African-Americans are, if anything, more likely to express preferences for both prenatal and adult genetic testing than White respondents. At the same time, they hold other beliefs and attitudes that may conflict with, and override, these preferences in specific situations. African-Americans and Latinos are also less knowledgeable about genetic testing than non-Hispanic Whites, and they are less likely to have the financial resources or insurance coverage that would facilitate access to testing.     

Actomyosin: law and order in motility

The crystal structures of smooth muscle and scallop striated muscle myosin have both been completed in the past 18 months. Structural studies of unconventional myosins, in particular the stunning discovery that myosin VI moves backwards on actin, are starting to have deep impact on the field and have induced new ways of thinking about actin-based motility. Sophisticated genetic, biochemical and biophysical studies were used to test and refine hypotheses of the molecular mechanism of motility that were developed in the past. Although all these studies confirmed some aspects of these hypotheses, they also raised many new unresolved questions. Much of the evidence points to the importance of the actin-myosin binding process and an associated disorder-to-order transition.     

Racial regimes,comparative politics,and the problem of judgment

This review essay examines the practice of judgment that characterized the subfield of comparative politics from its origins in openly racist ideas of the capacity for self-rule through to its twentieth-century behavioralist and positivist iterations. Though continually faced with new political phenomena that called into question its inherited criteria of judgment, comparative politics tended to practice determinative rather than reflective judgment, that is, to subsume the particulars of other cultures under known rules. Further, the essay examines the racialized conception of self-rule described by Michael Hanchard as embedded in a larger problem of Western political thinking: the flight from action into rule and tendency to think of politics wholly in terms of ruling and being ruled.     

番茄果重数量性状基因的研究进展及在遗传学教学中的应用

遗传学发展史上一系列经典的研究案例对学科的发展起了巨大的推动作用,将这些经典案例与教学内容相结合应用到遗传学课程教学中,对学生的科学思维和遗传分析能力是一个很好的训练。番茄果重基因的定位与克隆在数量性状基因座研究中是开创性的工作,完整的体现了植物数量性状基因的研究历程。将其作为一个综合案例应用于遗传学教学,可以生动直观地给学生展示一个精彩的科学发现过程,展现遗传学研究的魅力,激发学生的学习兴趣,收到了很好的教学效果。     

Pharmacogenetics in Primary Care: The Promise of Personalized Medicine and the Reality of Racial Profiling

Many anticipate that expanding knowledge of genetic variations associated with disease risk and medication response will revolutionize clinical medicine, making possible genetically based Personalized Medicine where health care can be tailored to individuals, based on their genome scans. Pharmacogenetics has received especially strong interest, with many pharmaceutical developers avidly working to identify genetic variations associated with individual differences in drug response. While clinical applications of emerging genetic knowledge are becoming increasingly available, genetic tests for drug selection are not as yet widely accessible, and many primary care clinicians are unprepared to interpret genetic information. We conducted interviews with 58 primary care clinicians, exploring how they integrate emerging pharmacogenetic concepts into their practices. We found that in their current practices, pharmacogenetic innovations have not led to individually tailored treatment, but instead have encouraged use of essentialized racial/ethnic identity as a proxy for genetic heritage. Current manifestations of Personalized Medicine appear to be reinforcing entrenched notions of inherent biological differences between racial groups, and promoting the belief that racial profiling in health care is supported by cutting-edge scientific authority. Our findings raise concern for how pharmacogenetic innovations will actually affect diverse populations, and how unbiased treatment can be assured.     

Mitochondrial DNA and the evolutionary genetics of higher animals

Mitochondrial DNA (mtDNA) in higher animals is rapidly becoming a well characterized genetic system at the molecular level. In this paper, I shift the focus to consider questions in organismal evolution that can be addressed by mtDNA assay. For the first time, it is possible to estimate empirically matriarchal phylogeny; to determine directionality in crosses producing hybrids; and to study the population genetic consequences of varying female demographies and life histories. The data obtainable from mtDNA may be especially well suited for studies of population genetic structure, dispersal, and historical zoogeography. The female-mediated, clonal transmission of mtDNA is also stimulating new ways of thinking about times to common ancestry of asexual lineages within otherwise sexually reproducing populations; about the possible relevance of mtDNA-nuclear DNA interactions to reproductive isolation; and about the very meaning of the phylogenetic status of related species with respect to particular kinds of genetic characters. These and other topics are reviewed.     

The 50th anniversary of the publication of the operon theory in the Journal of Molecular Biology: past, present and future

A series of eight review articles that appear in the present issue of the Journal of Molecular Biology celebrates the 50th anniversary for the landmark publication of François Jacob and Jacques Monod entitled “Genetic Regulatory Mechanisms in the Synthesis of Proteins”. In this publication, the authors presented a model for the regulation of gene expression deduced from genetic and biochemical studies. They proposed that a new class of genes, regulatory genes, would code for repressors that bind to operator sequences upstream of operons consisting of a group of catabolic or biosynthetic genes with related functions. Binding is controlled by small metabolites, substrates or end products. The repressors control the transmission of information from genes to mRNA that is translated into proteins. The present review articles demonstrate how this publication influenced our thinking and how it stimulated the studies on the regulation of gene expression all the way to present day epigenetics and systems biology.     

Racial disparity in breast cancer: can it be mattered for prognosis and therapy

Breast cancer (BC) has emerged as a deadly disease that affects the lives of millions of women worldwide. It is the second leading cause of cancer-related deaths in the United States. Advancements in BC screening, preventive measures and treatment have resulted in significant decline in BC related deaths. However, unacceptable levels of racial disparity have been consistently reported, especially in African-American (AA) women compared to European American (EA). AA women go through worse prognosis, shorter survival time and higher mortality rates, despite higher cancer incidence reported in EA. These disparities are independent of socioeconomic status, access to healthcare or age, or even the stage of BC. Recent race-specific genetic and epigenetic studies have reported biological causes, which form the crux of this review. However, the developments are just the tip of the iceberg. Prioritizing primary research towards studying race-specific tumor microenvironment and biological composition of the host system in delineating the cause of these disparities is utmost necessary to ameliorate the disparity and design appropriate diagnosis/treatment regimen for AA women suffering from BC. In this review article, we discuss emerging trends and exciting discoveries that reveal how genetic/epigenetic circuitry contributed to racial disparity and discussed the strategies that may help in future therapeutic development.     

Racial discrimination: How not to do it

The UNESCO Statements on Race of the early 1950s are understood to have marked a consensus amongst natural scientists and social scientists that ‘race’ is a social construct. Human biological diversity was shown to be predominantly clinal, or gradual, not discreet, and clustered, as racial naturalism implied. From the seventies social constructionists added that the vast majority of human genetic diversity resides within any given racialised group. While social constructionism about race became the majority consensus view on the topic, social constructionism has always had its critics. Sesardic (2010) has compiled these criticisms into one of the strongest defences of racial naturalism in recent times. In this paper I argue that Sesardic equivocates between two versions of racial naturalism: a weak version and a strong version. As I shall argue, the strong version is not supported by the relevant science. The weak version, on the other hand, does not contrast properly with what social constructionists think about ‘race’. By leaning on this weak view Sesardic’s racial naturalism intermittently gains an appearance of plausibility, but this view is too weak to revive racial naturalism. As Sesardic demonstrates, there are new arguments for racial naturalism post-Human Genome Diversity Project. The positive message behind my critique is how to be a social constructionist about race in the post-genomic era.     

Investigating the Relationship between Ethnic Consciousness,Racial Discrimination and Self-Rated Health in New Zealand

In this study, we examine race/ethnic consciousness and its associations with experiences of racial discrimination and health in New Zealand. Racism is an important determinant of health and cause of ethnic inequities. However, conceptualising the mechanisms by which racism impacts on health requires racism to be contextualised within the broader social environment. Race/ethnic consciousness (how often people think about their race or ethnicity) is understood as part of a broader assessment of the ‘racial climate’. Higher race/ethnic consciousness has been demonstrated among non-dominant racial/ethnic groups and linked to adverse health outcomes in a limited number of studies. We analysed data from the 2006/07 New Zealand Health Survey, a national population-based survey of New Zealand adults, to examine the distribution of ethnic consciousness by ethnicity, and its association with individual experiences of racial discrimination and self-rated health. Findings showed that European respondents were least likely to report thinking about their ethnicity, with people from non-European ethnic groupings all reporting relatively higher ethnic consciousness. Higher ethnic consciousness was associated with an increased likelihood of reporting experience of racial discrimination for all ethnic groupings and was also associated with fair/poor self-rated health after adjusting for age, sex and ethnicity. However, this difference in health was no longer evident after further adjustment for socioeconomic position and individual experience of racial discrimination. Our study suggests different experiences of racialised social environments by ethnicity in New Zealand and that, at an individual level, ethnic consciousness is related to experiences of racial discrimination. However, the relationship with health is less clear and needs further investigation with research to better understand the racialised social relations that create and maintain ethnic inequities in health in attempts to better address the impacts of racism on health.     

Spatial and temporal scales of adaptive divergence in marine fishes and the implications for conservation

Knowledge of geographic and temporal scales of adaptive genetic variation is crucial to species conservation, yet understanding of these phenomena, particularly in marine systems, is scant. Until recently, the belief has been that because most marine species have highly dispersive or mobile life stages, local adaptation could occur only on broad geographic scales. This view is supported by comparatively low levels of genetic variation among populations as detected by neutral markers. Similarly, the time scale of adaptive divergence has also been assumed to be very long, requiring thousands of generations. Recent studies of a variety of species have challenged these beliefs. First, there is strong evidence of geographically structured local adaptation in physiological and morphological traits. Second, the proportion of quantitative trait variation at the among-population level ( Q _ST) is much higher than it is for neutral markers ( F _ST) and these two metrics of genetic variation are poorly correlated. Third, evidence that selection is a potent evolutionary force capable of sustaining adaptive divergence on contemporary time scales is summarized. The differing spatial and temporal scales of adaptive v. neutral genetic divergence call for a new paradigm in thinking about the relationship between phenogeography (the geography of phenotypic variation) and phylogeography (the geography of lineages) in marine species. The idea that contemporary selective processes can cause fine-scale spatial and temporal divergence underscores the need for a new emphasis on Darwinian fishery science.     

Branching out: meiotic recombination and its regulation

Homologous recombination is a dynamic process by which DNA sequences and strands are exchanged. In meiosis, the reciprocal DNA recombination events called crossovers are central to the generation of genetic diversity in gametes and are required for homolog segregation in most organisms. Recent studies have shed light on how meiotic crossovers and other recombination products form, how their position and number are regulated and how the DNA molecules undergoing recombination are chosen. These studies indicate that the long-dominant, unifying model of recombination proposed by Szostak et al. applies, with modification, only to a subset of recombination events. Instead, crossover formation and its control involve multiple pathways, with considerable variation among model organisms. These observations force us to 'branch out' in our thinking about meiotic recombination.     

Dopamine and the Creative Mind: Individual Differences in Creativity Are Predicted by Interactions between Dopamine Genes DAT and COMT

The dopaminergic (DA) system may be involved in creativity, however results of past studies are mixed. We attempted to clarify this putative relation by considering the mediofrontal and the nigrostriatal DA pathways, uniquely and in combination, and their contribution to two different measures of creativity–an abbreviated version of the Torrance Test of Creative Thinking, assessing divergent thinking, and a real-world creative achievement index. We found that creativity can be predicted from interactions between genetic polymorphisms related to frontal (COMT) and striatal (DAT) DA pathways. Importantly, the Torrance test and the real-world creative achievement index related to different genetic patterns, suggesting that these two measures tap into different aspects of creativity, and depend on distinct, but interacting, DA sub-systems. Specifically, we report that successful performance on the Torrance test is linked with dopaminergic polymorphisms associated with good cognitive flexibility and medium top-down control, or with weak cognitive flexibility and strong top-down control. The latter is particularly true for the originality factor of divergent thinking. High real-world creative achievement, on the other hand, as assessed by the Creative Achievement Questionnaire, is linked with dopaminergic polymorphisms associated with weak cognitive flexibility and weak top-down control. Taken altogether, our findings support the idea that human creativity relies on dopamine, and on the interaction between frontal and striatal dopaminergic pathways in particular. This interaction may help clarify some apparent inconsistencies in the prior literature, especially if the genes and/or creativity measures were analyzed separately.     

Genetik der allgemeinen kognitiven Fähigkeit

Intelligence is one of the best studied constructs of empirical behavioral sciences and represents a general cognitive capacity, which includes – among others – the ability for conceptual thinking, solving challenging problems, abstract thinking, and rapid learning. These cognitive functions play an enormous role in the explanation and prediction of individual differences in central areas of societal life, e.?g., schooling and educational success, professional success, socioeconomic status, and health-related behavior. Behavioral genetic studies have consistently shown that genetic influences make a substantial contribution to defining individual differences, that explain more than 60% of variations in intelligence in adults. Over the last few years, in large genome-wide association studies using frequent genetic variants, hundreds of loci associated with intelligence were identified, in addition to more than 1300 associated genes, which were differentially expressed in the brain. Several pathways were overrepresented, mainly those for neurogenesis, the regulation of nervous system development, and the regulation of synapse structure and activity. Most associated loci were located in regulatory regions and, interestingly, half of them in introns. Of the more than 1300 associated genes, only 9.2% overlapped with those associated with monogenic cognitive defects. Overall, the findings confirm a polygenic model of thousands of additive factors, in which individual loci have a very small effect. Collectively, the current results explain up to 10% of the overall variance in cognitive function. These results are an important starting point for future research, not only in genetics but also in the behavioral sciences.     

Species definitions and conservation: a review and case studies from African mammals

The nature of species, especially as applied to large mammals, is of major concern in conservation. Here, we briefly comment on recent thinking in alpha taxonomy, and assert that species are in essence evolutionary lineages, and that the most effective way of recognising them is by their diagnosability, i.e. the so-called Phylogenetic Species Concept. We further assert that the amount of genetic distance is not a relevant datum for distinguishing species, and that the ability to interbreed is not relevant. We consider a few case studies, especially that of the Northern White Rhinoceros Ceratotherium cottoni, and also species in Loxodonta, Giraffa and Oreotragus.