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Genetics (Anthropology)

Mar 14th, 2017
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  1. Introduction
  2.  
  3. The inherited traits that shape human variation have been a major focus of anthropologists and biologists alike. Recently, molecular genetic tools have provided a massive array of possibilities to address anthropological questions in novel, powerful ways, leading to the formation of the young and exciting field of genetic anthropology. However, application of genetic knowledge to anthropology is still in its infancy and many methodological, theoretical, institutional, and ethical issues remain to be addressed for a complete integration of genetics with anthropology. Still, over the past decades, several high-profile discoveries using genetic tools have changed the way anthropologists think about some of the fundamental questions related to human biological and cultural diversity. These include determining how genetically similar we are to our primate cousins; proving an African origin for our species; noting the myriad migrations that define the biological and ancestral variations within and between human populations; detailing the demographic impact of the transition to agriculture, and so forth. All were explored to unprecedented depths thanks to genetic tools. Also exciting has been the recent focus of genetic anthropology on local adaptations, such as resistance to disease (e.g., malaria) and the impact of technological and cultural transformation in human history on genomic variation. As our understanding of the human genome deepens and, more important, as the extent of the interplay between biology and culture is unveiled, genetic anthropology can position itself potentially to address very difficult questions about human nature, the interaction between nature and society, and human variation in general.
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  5. Bibliographies
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  7. Genetic anthropology research is primarily published as peer-reviewed journal articles. PubMed is an extremely comprehensive bibliographic resource that includes almost all of the peer-reviewed citations that relate to biomedical research, including nearly all major genetic anthropology articles. However, it is important to note that material listed in PubMed consists overwhelmingly of journal articles and not books. A significant portion of the discussion that relates to data concerning the ethical, societal, legal, and cultural context of production and the impact of genetic anthropology is published as books or in nonbiomedical journals. This requires incorporation of bibliographic resources other than PubMed.
  8.  
  9. PubMed
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  11. A free-of-charge database of journal articles curated by the US National Library of Medicine. The database includes more than twenty million citations and is the most comprehensive and most accessed database for biomedical research. Content of most of the journals that publishes genetic anthropology research is indexed in this database.
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  13. Journals
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  15. The work that can be categorized as genetic anthropology has been traditionally conducted by scholars from very different disciplinary backgrounds. Hence, such work is published in a diverse set of journals that can be roughly categorized into three different groups. One group of journals involves very high impact, generalist scientific journals, in which some of the major breakthroughs that shift our understanding of human variation have been published, including the initial reports for the genetic evidence regarding the African origins of modern humans and possible Neanderthal admixture to Eurasian genomes. Several journals that focus on evolutionary biology and genetics have also published articles that relate to documenting the extent, distribution, and evolution of human and nonhuman primate genetic variation and its impact on disease and other biological variation. A third group of journals, more focused on anthropology, publishes in-depth records of genetic variation, mostly in the context of population histories of indigenous populations, as well as articles that relate to genetic variation of nonhuman primates.
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  17. Generalist Journals
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  19. Beginning in the 1980s, genetic and genomic methodologies, when applied to anthropological questions, have occasionally produced very high impact findings that relate to the broader academic audience. As such, generalist, high-impact journals, including Nature, Science, and Proceedings of the National Academy of Sciences (PNAS), have consistently published the results of anthropologically relevant genetic studies, even though they have no institutional commitment to anthropological research. In addition, the results of major, multi-institutional attempts to document human genomic variation, such as the Human Genome Project, the HapMap Project, and the 1000 Genomes Project have been published in those journals.
  20.  
  21. Nature.
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  23. Nature is the most cited generalist, peer-reviewed journal that publishes articles from a variety of disciplines, including genetic anthropology. The journal is, unlike most of its competitors, a for-profit enterprise and published by Nature Publishing Group.
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  25. Proceedings of the National Academy of Sciences of the United States of America.
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  27. As the official publication of the National Academy of Sciences, Proceedings of the National Academy of Sciences is regarded as one of the top venues for scientific research.
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  29. Science.
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  31. The official journal of the American Association for the Advancement of Science publishes peer-reviewed articles that have relevance to a wide variety of disciplines.
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  33. General Genetics and Evolution Journals
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  35. Human evolution and genetic variation has generally been understood as a subsection of a wide range of attempts to understand evolution of organisms. Hence, several general biology/genetic journals occasionally host genetic anthropology articles or databases that are relevant to genetic anthropology research. These journals have a diverse set of foci ranging from molecular evolution (e.g., Molecular Biology and Evolution) to genetics/genomics (e.g., Nature Genetics, Genome Research, and PLoS Genetics). In addition, human genetics journals, such as European Journal of Human Genetics and American Journal of Human Genetics, serve as main outlets for general accounts for human genetic variation and functional implications of this variation.
  36.  
  37. American Journal of Human Genetics.
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  39. Another peer-reviewed journal that serves as the official publication of the American Society of Human Genetics. This journal, which is published by Cell Press, has been one of the top journals of human genetics and currently focuses on medically relevant research.
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  41. European Journal of Human Genetics.
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  43. The official journal for the European Society of Human Genetics, published by Nature Press. This journal increasingly publishes peer-reviewed research that focuses on inferences of population histories of indigenous human groups based on genetic data. Hence, many anthropologists publish in this journal regularly.
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  45. Genome Research.
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  47. This journal currently has one of the highest impact factors in the field of genetics and publishes, among other topics, population genetics research at the genome level. The journal is a Cold Spring Harbor Publication.
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  49. Molecular Biology and Evolution.
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  51. A peer-reviewed journal that is published by Oxford University Press. It is the official journal for the Society for Molecular Biology and Evolution and publishes molecular research that relates to the evolution of organisms. As such, most of the publications related to genetic anthropology in this journal focus on the functional impact of genetic variation to the evolution of humans, as well as comparative studies of human and nonhuman primates.
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  53. Nature Genetics.
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  55. Nature Genetics is the leading general genetics journal and publishes major breakthroughs in genetics research.
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  57. PLoS Genetics.
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  59. Has been increasingly influential in the field of genetics and publishes a wide range of topics relevant to genetic anthropology. It is published by the Public Library of Science.
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  61. Anthropology Journals
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  63. The majority of genetic anthropology work has been published in physical anthropology journals, such as the American Journal of Physical Anthropology and Human Biology. Lately, a growing body of genetic work that relates to nonhuman primate variation has appeared in the American Journal of Primatology. Last but not least, several general anthropology journals, including American Anthropologist, now publish genetic anthropology studies, especially in relation to subfields of anthropology (i.e., linguistic, archaeological, and cultural anthropology).
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  65. American Anthropologist.
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  67. The “flagship” publication of the American Anthropological Association, and published by the same association. The journal publishes a wide variety of anthropological topics, including biological anthropology. Even though it is not a mainstream venue for genetic anthropology research, the journal has hosted some unique research contextualizing genetic variation in a more theoretical context.
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  69. American Journal of Physical Anthropology.
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  71. Has been arguably the most influential journal in genetic anthropology, as the majority of scientific work has been published here since the beginnings of the field. The journal remains one of the top venues for publication of population history and gene-specific comparative genetics research. It is the official journal of the American Association of Physical Anthropology and is published by Wiley Press.
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  73. American Journal of Primatology.
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  75. Published by Wiley Press, and the official journal of the American Society of Primatologists. The journal publishes, among other topics, genetic anthropology research, mostly relating to comparative genetics of primates, links between primate behavior and genetic variation, as well as ecological conservation.
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  77. Human Biology.
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  79. The official publication of the American Association of Anthropological Genetics. The journal publishes peer-reviewed original research, mostly in genetic anthropology. The journal is published by Wayne State University Press.
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  81. Basic Concepts
  82.  
  83. Deoxyribonucleic acid, or DNA, is the molecule that carries genetic information from generation to generation in the form of long strands of four chemical “letters”: Adenine, Guanine, Thymine, and Cytosine. Most of this genetic information is organized in twenty-three pairs of DNA molecules (chromosomes) in the nucleus of each cell of healthy humans, comprising one pair of sex chromosomes and twenty-two pairs of autosomal chromosomes. In addition, multiple identical copies of mitochondrial DNA reside outside of the nucleus and are inherited maternally. The combination of chemical “letters” described above instruct and regulate the synthesis of building blocks of cells, such as proteins and ribonucleic acid (RNA) molecules. For autosomal chromosomes, one strand of the pair is inherited from the mother and the other strand is inherited from the father. However, because of a phenomenon called recombination (i.e., exchange of genetic information between strands of pairs during gamete formation), the autosomes are mosaics of ancestral genomes. Studying ancestry and population history using autosomes can be very challenging and computationally expensive. The details of the molecular genetics and their implications for the cellular function are best summarized in Alberts, et al. 2008 and a comprehensive introduction to application of molecular genetics to anthropological inquiry can be acquired from Jobling, et al. 2004 and Crawford, et al. 2007. Many genetic anthropology studies focus on the non-recombining parts of the Y-chromosome to understand paternal ancestry and mitochondrial DNA for delineating maternal genetic variation. Recently, however, genome-wide approaches that utilize information from the entire genome have been used increasingly in genetic anthropology.
  84.  
  85. Alberts, Bruce, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, and Peter Walter. 2008. Molecular biology of the cell. 5th ed. New York: Garland Science.
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  87. The major reference textbook for molecular biology research, including molecular genetics. It summarizes several molecular biology processes through which genes affect the cellular function, and consequently contribute to biological variation within and among species.
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  89. Crawford, Michael H., ed. 2007. Anthropological genetics: Theory, methods and applications. Cambridge, UK: Cambridge Univ. Press.
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  91. An edited volume that raises important arguments regarding many aspects of contemporary genetic anthropology research.
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  93. Jobling, Mark A., Mathew Hurles, and Chris C. Tyler-Smith. 2004. Human evolutionary genetics: Origins, peoples and disease. New York: Garland Science.
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  95. A major source for integrating genetics tools to the study of human population movements, as well as their adaptations to local ecologies. It has detailed quantitative methodological sections, summarizing some of the statistical approaches that are essential in genetic anthropology research.
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  97. Anthropological Contextualization
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  99. The genetic information that relates to human variation and history can be broadly understood in two different categories. One category involves stretches of the DNA that directly affect biological functions as exemplified by “genes,” which are parts of the genome that code for proteins. As such, genetic variation among humans at these functional locations has been used to explain some of the important biological differences observed within and among human populations, such as susceptibility to disease (e.g., Jallow, et al. 2009), adaptations to different ecologies (e.g., Simonson, et al. 2010), and diets (e.g., Perry, et al. 2007). The second category involves stretches of DNA that, to the best of our current knowledge, do not code for genes and do not have any observed impact on biological function. These sections of the genome are considered “neutral” and, consequently, the variations at these locations accumulate randomly over time (Kimura 1983). The random nature of the genetic variation at these genomic locations, in turn, can be used to assess the different aspects of population histories of different human groups in relation to each other, such as the migrations, isolations, shared ancestries, and so forth of different human groups (e.g., Abdulla, et al. 2009; Reich, et al. 2009; Tishkoff, et al. 2009). These two interrelated pathways of genetic inquiry into human variation are important in the formation of paradigms within genetic anthropology.
  100.  
  101. Abdulla, M. A., I. Ahmed, A. Assawamakin, et al. 2009. Mapping human genetic diversity in Asia. Science 326:1541–1545.
  102. DOI: 10.1126/science.1177074Save Citation »Export Citation »E-mail Citation »
  103. One of the most comprehensive dissections of genetic variation among Asian populations. The authors showed that genetic variation is strongly correlated with geography, which is in turn correlated with linguistic affiliations. The study also reaffirmed the constant gene flow (i.e., lack of isolation) between populations.
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  105. Jallow, Muminatou, Yik Ying Teo, Kerrin S. Small, et al. 2009. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nature Genetics 41:657–665.
  106. DOI: 10.1038/ng.388Save Citation »Export Citation »E-mail Citation »
  107. An important leap forward in integrating medically relevant genetic association studies to anthropologically meaningful populations. The authors distinguished their study from other, more traditional genome-wide association studies (GWAS) in their sophisticated understanding of genetic structure within Africa. As such, they were able to discover several population-specific genetic variants that are associated with malaria resistance, opening the way to anthropologically contextualized GWAS.
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  109. Kimura, Motoo. 1983. Neutral theory of molecular evolution. Cambridge, UK: Cambridge Univ. Press.
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  111. The seminal book that outlines the growing scholarship during the 1960s and 1970s regarding the evolution of genomes. The underlying idea is that most of the genome is evolving under no selective pressures and, in a way, randomly. As such, this idea has led to the development of several mathematical tools to utilize the random evolution of genomes to infer demographic and evolutionary histories of populations.
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  113. Perry, George H., Nathaniel J. Dominy, Katrina G. Claw, et al. 2007. Diet and the evolution of human amylase gene copy number variation. Nature Genetics 39:1256–1260.
  114. DOI: 10.1038/ng2123Save Citation »Export Citation »E-mail Citation »
  115. Associated the cultural differences in dietary habits to variation of a particular gene across human populations. This is one of the first examples of how culture may affect genetic variation.
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  117. Reich, David, Kumarasamy Thangaraj, Nick Patterson, Alkes L. Price, and Lalji Singh. 2009. Reconstructing Indian population history. Nature 461:489–494.
  118. DOI: 10.1038/nature08365Save Citation »Export Citation »E-mail Citation »
  119. A mathematically dense article, reconstructing the demographic histories of currently isolated populations within the Indian subcontinent.
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  121. Simonson, Tatum S., Yingzhong Yang, Chad D. Huff, et al. 2010. Genetic evidence for high-altitude adaptation in Tibet. Science 329:72–75.
  122. DOI: 10.1126/science.1189406Save Citation »Export Citation »E-mail Citation »
  123. Investigated the genetic adaptations to high attitude in Tibetans. This study is a prime example of classic natural experiments, in which comparison of genetic variation of two human groups with similar population histories, but distinct ecologies, yielded recent signals of adaptation.
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  125. Tishkoff, Sarah A., Floyd A. Reed, Françoise R. Friedlaender, et al. 2009. The genetic structure and history of Africans and African Americans. Science 324:1035–1044.
  126. DOI: 10.1126/science.1172257Save Citation »Export Citation »E-mail Citation »
  127. A comprehensive study of demographic histories of different African and African-American populations. The study provides yet another demonstration of the vast complexity of genetic variation among African populations.
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  129. Historical Background for Genetic Anthropology Paradigms
  130.  
  131. The inheritance of human variation has been scrutinized for centuries and several early physical anthropology studies in the 20th century focused on the variation across human groups, mostly as understood within the context of racial categories (Little and Kennedy 2010). The years from c. 1800 to 1850 also witnessed an unusually rapid development of theories that underlie our current understanding of genetic variation at the population level. In particular, modern evolutionary synthesis, as described in Huxley 1942, a seminal work, settled several then-ongoing debates about the mechanisms through which variation in genes translates into observed evolutionary differences in living organisms and fossilized ancestors. Two decades after the modern synthesis became the undisputed paradigm for the study of evolution, it also became clear that a vast majority of the genome evolved randomly under no selection, heralding the “neutral” theory of molecular evolution. This allowed researchers, in theory, to estimate an unbiased “clock” to measure the time of divergence between species and populations. As such, by the 1980s most of the theoretical background had been established for the current ramification of anthropological studies of human genetic variation. This led to the publication of several groundbreaking studies that contextualized human genetic variation within their African origins (Cann, et al. 1987), their divergence from nonhuman primates (Ruvolo, et al. 1991), and as signatures of major cultural transformations (Ammerman and Cavalli-Sforza 1984), opening the way for the establishment of genetic anthropology as a distinct field.
  132.  
  133. Ammerman, Albert J., and L. L. Cavalli-Sforza. 1984. The Neolithic transition and the genetics of populations in Europe. Princeton, NJ: Princeton Univ. Press.
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  135. Estimated the temporal distribution of classical genetic markers across Europe and the Middle East and, for the first time at that depth, associated this distribution to cultural transformations in (pre)history. In particular, the authors postulated that the distribution of genetic variation across Europe is consistent with the demic-diffusion of Neolithic farmers from the Middle East to Europe, bringing their culture with them.
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  137. Cann, Rebecca L., Mark Stoneking, and Allan C. Wilson. 1987. Mitochondrial DNA and human evolution. Nature 325:31–36.
  138. DOI: 10.1038/325031a0Save Citation »Export Citation »E-mail Citation »
  139. Evaluated the mitochondrial DNA variation among world populations and identified a hypothetical maternal common ancestor that lived 200,000 years ago in Africa. This study pioneered a myriad of anthropological research focusing on the ancestries and migrations of human groups.
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  141. Huxley, Julian. 1942. Evolution: The modern synthesis. London: G. Allen & Unwin.
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  143. The seminal book that outlines the consensus statement regarding the now-resolved disparity between Mendelian genetics, which dictates discrete inheritance of traits, and the conversation that most traits in nature evolve gradually.
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  145. Little, Michael A., and Kenneth A. R. Kennedy. 2010. Histories of American physical anthropology in the twentieth century. Lanham, MD: Lexington Books.
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  147. This edited volume explores key historical events and concepts that have shaped American physical anthropology in the 20th century.
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  149. Ruvolo, M., T. R. Disotell, M. W. Allard, W. M. Brown, and R. L. Honeycutt. 1991. Resolution of the African hominoid trichotomy by use of a mitochondrial gene sequence. Proceedings of the National Academy of Sciences of the United States of America 88:1570–1574.
  150. DOI: 10.1073/pnas.88.4.1570Save Citation »Export Citation »E-mail Citation »
  151. Established firmly that chimpanzees are evolutionarily the closest living primates to humans.
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  153. Genetic Ancestry
  154.  
  155. Since approximately the 1990s, studies of genetic ancestry have become the mainstream in genetic anthropology scholarship. Most of these studies aim to untangle complicated population histories of different human groups, understand the historical relationships between them, and, occasionally, ask specific questions regarding a particular historical event or transformation (Barbujani and Colonna 2010). Such studies often focus on variation observed in mitochondrial DNA and Y-chromosomes, which are inherited maternally and paternally, respectively. Hence, the genetic signature observed in these genetic systems could be traced back across one’s maternal or paternal ancestors and could be used to draw biological family trees. These studies have been able to shed light into the time and mode of colonization of continents (e.g., Schurr, et al. 1990), unravel complicated population histories of self-identified communities (e.g., Behar, et al. 2010), and delineate complex interactions between culture and genetic variation (e.g., Gokcumen, et al. 2011). In addition, data from ancient human remains have contributed significantly to our understanding of early migrations and isolation of human populations (e.g., Kemp, et al. 2007). Last, but not least, astonishing relationships have emerged with (pre)historical demographic and migratory trends as understood from population genetics and the material past as interpreted from archeological inquiry (Renfrew, et al. 2000).
  156.  
  157. Barbujani, Guido, and Vincenza Colonna. 2010. Human genome diversity: Frequently asked questions. Trends in Genetics 26:285–295.
  158. DOI: 10.1016/j.tig.2010.04.002Save Citation »Export Citation »E-mail Citation »
  159. Provides a concise guide to the genetic studies of human variation and history.
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  161. Behar, Doron M., Bayazit Yunusbayev, Mait Metspalu, et al. 2010. The genome-wide structure of the Jewish people. Nature 466:238–242.
  162. DOI: 10.1038/nature09103Save Citation »Export Citation »E-mail Citation »
  163. Explored the genetic variation of a particular religious group and demonstrated that the religious affinity has maintained a level of genetic homogeneity within this group, but with significant exceptions. This study further showed the possible Levantine origins for this religious group.
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  165. Gokcumen, Ömer, Timur Gultekin, Yesim D. Alakoc, Aysim Tug, Erksin Gulec, and Theodore G. Schurr. 2011. Biological ancestries, kinship connections, and projected identities in four central Anatolian settlements: Insights from culturally contextualized genetic anthropology. American Anthropologist 113:116–131.
  166. DOI: 10.1111/j.1548-1433.2010.01310.xSave Citation »Export Citation »E-mail Citation »
  167. Questioned traditional genetic anthropology studies in their treatment of contemporary ethnic, linguistic, and religious groups as units of analysis and provided an example for an ethnographically contextualized interpretation of genetic variation.
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  169. Kemp, Brian M., Ripan S. Malhi, John McDonough, et al. 2007. Genetic analysis of early holocene skeletal remains from Alaska and its implications for the settlement of the Americas. American Journal of Physical Anthropology 132:605–621.
  170. DOI: 10.1002/ajpa.20543Save Citation »Export Citation »E-mail Citation »
  171. Extracted and analyzed DNA from the remains of an early indigenous American individual. This study revised the previous genetic findings regarding the timing of the peopling of the Americas.
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  173. Renfrew, Colin, and Katie V. Boyle. 2000. Archaeogenetics: DNA and the population prehistory of Europe. Cambridge, UK: McDonald Institute for Archaeological Research.
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  175. Outlines, through several chapters, different attempts, both methodological and theoretical, to incorporate genetic and archeological data in the context of the peopling of Europe.
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  177. Schurr, T. G., S. W. Ballinger, Y. Y. Gan, et al. 1990. Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. American Journal of Human Genetics 46:613–623.
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  179. Laid out the first comprehensive genetic evidence for the Central Asian origins of indigenous American populations. This work initiated a large array of scholarship scrutinizing the mode and timing of the different migrations that shaped the genetic variation observed among indigenous American populations.
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  181. Comparative Genomics
  182.  
  183. One major focus at the core of genetic anthropology research has been comparing the genomes of humans to nonhuman primates in order to delineate those genetic elements that underlie our “humanness” (Varki, et al. 2008). Recently, large consortium efforts have published the reference genomes for several nonhuman primates, including macaques, chimpanzees, orangutans, and marmosets, among others. In the same vein, the publication of genomes of now-extinct hominins has made breakthroughs in our understanding of human genetic variation, as it suggests that there was measurable genetic admixture from these species to modern Eurasians (Green, et al. 2010). The availability of these genomic resources has enabled sophisticated studies that have revealed the specific genetic events that underlie important human traits (e.g., McLean, et al. 2011). In addition, these studies have yielded several clues to understanding the massive cultural complexity of humans, specifically, regarding the genetic basis of language formation (e.g., Enard, et al. 2002) and the impact of cultural and technological developments to human genomes (e.g., Burger, et al. 2007).
  184.  
  185. Burger, J., M. Kirchner, B. Bramanti, W. Haak, and M. G. Thomas. 2007. Absence of the lactase-persistence-associated allele in early Neolithic Europeans. Proceedings of the National Academy of Sciences of the United States of America 104:3736–3741.
  186. DOI: 10.1073/pnas.0607187104Save Citation »Export Citation »E-mail Citation »
  187. Postulated that lactase persistence evolved as a response to the emergence of dairy farming. Among other examples of the impact of culture on genomes, this suggests that the current human genetic variation is, to some extent, a product of cultural variation.
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  189. Enard, Wolfgang, Molly Przeworski, Simon E. Fisher, et al. 2002. Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418:869–872.
  190. DOI: 10.1038/nature01025Save Citation »Export Citation »E-mail Citation »
  191. Describes the first gene that is associated with language ability. Specifically, this study identifies in an extended family a mutation affecting this gene that predicts impairment of grammatical articulation in the individuals carrying the mutation.
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  193. Green, Richard E., Johannes Krause, Adrian W. Briggs, et al. 2010. A draft sequence of the Neandertal genome. Science 328:710–722.
  194. DOI: 10.1126/science.1188021Save Citation »Export Citation »E-mail Citation »
  195. Made available the whole genome sequence of the Neanderthals, the evolutionarily closest species to humans. This study allowed the detection of human-specific adaptations as well as the identification of possible admixture from Neanderthals to humans.
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  197. McLean, Cory Y., Philip L. Reno, Alex A. Pollen, et al. 2011. Human-specific loss of regulatory DNA and the evolution of human-specific traits. Nature 471:216–219.
  198. DOI: 10.1038/nature09774Save Citation »Export Citation »E-mail Citation »
  199. The study identified more than one hundred genomic regions that are lost in human lineage and demonstrated the functional relevance of some of these sequences.
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  201. Varki, Ajit, Daniel H. Geschwind, and Evan E. Eichler. 2008. Explaining human uniqueness: Genome interactions with environment, behaviour and culture. Nature Reviews Genetics 9:749–763.
  202. DOI: 10.1038/nrg2428Save Citation »Export Citation »E-mail Citation »
  203. A comprehensive review article summarizing our current understanding of human-specific traits and discussing possible ways in which these traits can be studied using genetic tools.
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  205. Ethics
  206.  
  207. Genetics of humans, from an ethical perspective, is fundamentally different from genetics of other organisms. As exemplified in the history of eugenics and race in Kevles 1985, the study of human genetics has always been a highly politicized and ethically relevant subject. In parallel with the general deconstruction of race as a biological category in Western academia, the field of genetic anthropology is actively involved in redefining race as a cultural construct (Barbujani, et al. 1997). Even though the discussion of genetic variation within the context of racial constructs remains one of the most important in genetic anthropology (Koenig, et al. 2008), other important ethical issues, such as ownership of genetic information, testing for genetic diseases, the inclusion of model organisms, and, maybe more important, defining identities beyond races and ethnicities emerge as important topics of anthropological inquiry (Gibbon and Novas 2008, Bolnick 2007).
  208.  
  209. Barbujani, Guido, Arianna Magagni, Eric Minch, and L. Luca Cavalli-Sforza. 1997. An apportionment of human DNA diversity. Proceedings of the National Academy of Sciences of the United States of America 94:4516–4519.
  210. DOI: 10.1073/pnas.94.9.4516Save Citation »Export Citation »E-mail Citation »
  211. Asserted that most of the genetic variation of the human species can be found within populations. As such, the study further argued that human species cannot be successfully divided into subdivisions as traditional racial categorization would assume.
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  213. Bolnick, Deborah A., Duana Fullwiley, Troy Duster, et al. 2007. Genetics: The science and business of genetic ancestry testing. Science 318:399–400.
  214. DOI: 10.1126/science.1150098Save Citation »Export Citation »E-mail Citation »
  215. A concise summary of the emerging issues in commercialization of production and interpretation of individual genetic information.
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  217. Gibbon, S., and C. Novas, eds. 2008. Biosocialities, genetics and the social sciences: Making biologies and identities. Abingdon, UK: Routledge.
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  219. An edited volume that provides an excellent collection of thoughtful, if slightly convoluted, discussions on several relevant aspects of current anthropological thinking regarding biological and genetics research.
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  221. Kevles, Daniel J. 1985. In the name of eugenics: Genetics and the uses of human heredity. New York: Knopf.
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  223. One of the most comprehensive accounts of the intellectual history of the eugenics movements across Europe and America.
  224. Find this resource:
  225. Koenig, Barbara A., Sandra S. J. Lee, and Sarah S. Richardson, eds. 2008. Revisiting race in a genomic age. New Brunswick, NJ: Rutgers Univ. Press.
  226. Save Citation »Export Citation »E-mail Citation »
  227. An edited volume comprising articles by anthropologists, bioethicists, and geneticists discussing the relevance and impact of racial categories on contemporary genomic research.
  228. Find this resource:
  229. The Future of Genetic Anthropology
  230.  
  231. The age-old dispute over whether nurture or nature dictates human variation has lost its paramount place, thanks to the realization of the complexity of mechanisms that lead to most human traits (Goodman, et al. 2003). Specifically, it is now clear that almost all variable human traits stem from a multifaceted interplay among culture, environment, and inherited genetic code as well as other biological aspects, such as the epigenome (i.e., heritable factors that impact biological variation other than DNA sequence) and cellular responses to diverse stimuli. Therefore, as argued in Kuper and Marks 2011, a reconciliation of the subspecialization of anthropological research is warranted. Anthropological inquiry has the potential, with the availability of high throughput and affordable genomic tools, to lead academia to a holistic understanding and critique of the complex interplay among culture, genes, and biological variation (Laland, et al. 2010).
  232.  
  233. Goodman, Alan H., Deborah Heath, and M. Susan Lindee, eds. 2003. Genetic nature/culture: Anthropology and science beyond the two-culture divide. Berkeley: Univ. of California Press.
  234. Save Citation »Export Citation »E-mail Citation »
  235. A collection of essays that, although relatively segregated across subdisciplines, collectively serve as one of the first anthropological efforts to synthesize the issues related to the complicated relationship among genes, environment, culture, and human biology.
  236. Find this resource:
  237. Kuper, Adam, and Jonathan Marks. 2011. Anthropologists unite! Nature 470:166–168.
  238. DOI: 10.1038/470166aSave Citation »Export Citation »E-mail Citation »
  239. An opinion piece by two prominent anthropologists regarding the recent controversy over the American Anthropological Association (AAA) revising its long-range plan to exclude the term science. The authors, in their discussion of the field, outline several lines of support for a unified anthropology, which they define as a “comparative science of humankind.”
  240. Find this resource:
  241. Laland, Kevin N., John Odling-Smee, and Sean Myles. 2010. How culture shaped the human genome: Bringing genetics and the human sciences together. Nature Reviews Genetics 11:137–148.
  242. DOI: 10.1038/nrg2734Save Citation »Export Citation »E-mail Citation »
  243. An excellent review of the potential impact of several cultural processes on human evolution, and consequently on human genetic variation.
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