U.S.-Russia-Mongolia Joint Collaborative Research: Comparative Framework for North Asian Genetic Diversity

Hammer 0216732这项研究将使用人类基因组变异模式作为工具，用于检验有关北亚和美洲早期人口的假设，并评估性别特异性人口统计过程和自然选择在塑造北亚遗传多样性方面的相对影响。在遗传学中，对父系、母系或双亲遗传的谱系的研究可以为智人的起源和全球传播提供不同的见解。遗传分析将应用于一组16名男性从每个6西伯利亚人口。比较人类种群内部和种群之间的种内变异模式，以及人类和类人猿在这些位点上的差异水平，将能够检验自然选择的影响和男女有效种群规模的潜在差异。信息多态性发现在这个西伯利亚确定面板将在一个更大的北亚样本组进行基因分型，以允许进一步测试语言，地理和遗传变异之间的关联和遗传漂变，迁移和混合对北亚人群的影响。这些结果将用于帮助构建更现实的殖民模型，涉及美洲早期人类的不同阶段，这项研究的结果将提高我们对我们物种进化历史的理解。 重建亚洲人类进化的模式和过程是有意义的，因为从考古和古生物学记录中还不能很好地了解解剖学上的现代人类离开非洲的最早传播路线。 此外，这个地区是后来移民到日本，西伯利亚和美洲的起源。西伯利亚的31个土著民族，其中14个可用于本项目，提供了重要的机会，以研究可能对早期现代人口起作用的进化力量。直到最近，许多西伯利亚土著群体仍然保留着传统的自给经济和生活方式，这可能反映了新石器时代前的人口结构。北亚种群，特别是那些适应人类居住的最北部地区的北方气候的种群，在遗传上被细分，遗传漂变在西伯利亚形成变异模式方面发挥了关键作用。此外，西伯利亚人口的人口统计历史导致语言和遗传变异之间异常强烈的关联。这项研究是首次尝试使用从同一组样本中获得的数据来建立一个比较遗传学框架。这项研究将直接解决人类学遗传学家目前面临的三个主要挑战。这里采用的多基因座方法将有助于理解：（1）人类基因组的哪些部分是可变的;（2）基因组和进化过程如何相互作用，以产生观察到的多样性模式;（3）在不同的时间段和不同的人群中，这些力量中的每一种的相对作用是什么。除了有一个迷人的进化史，西伯利亚原住民人口代表了一个理想的模型系统，在其中解决这些及时的问题。

Hammer0216732This research will use human genomic variation patterns as a tool for testing hypotheses concerning the early peopling of North Asia and the Americas and for assessing the relative effects of sex-specific demographic processes and natural selection in shaping North Asian genetic diversity. Within genetics, the study of lineages that are inherited paternally, maternally or biparentally can offer different insights into the origins and global dispersals of Homo sapiens. The genetic analyses will be applied to a panel of 16 males from each of 6 Siberian populations. Comparisons of intra-specific patterns of variation within and among human populations, and with levels of divergence between humans and great apes at these loci, will enable tests of the effects of natural selection and potential differences in male and female effective population sizes. Informative polymorphisms discovered in this Siberian ascertainment panel will be genotyped in a larger set of North Asian samples to allow further tests of the associations between linguistic, geographic, and genetic variation and the effects of genetic drift, migration, and admixture on North Asian populations. These results will be used to aid in constructing more realistic colonization models involving different stages for the early peopling of the Americas.Results from this research will enhance our understanding of the evolutionary history of our species. Reconstructing the patterns and processes of human evolution in Asia is of interest because the the earliest dispersal routes of anatomically modern humans out of Africa are not well understood from the archaeological and paleontological records. Further, this region is the origin for subsequent migrations to Japan, Siberia, and the Americas. The 31 native ethnic groups of Siberia, 14 of which are available for this project, offer significant opportunities to examine the evolutionary forces that may have acted on early modern human populations. Until very recently many native Siberian groups retained traditional subsistence economies and lifeways that may have reflected a pre-Neolithic population structure. North Asian populations, especially those adapted to boreal climates in the northernmost regions inhabited by humans, are genetically subdivided, and genetic drift has played a key role in shaping patterns of variation in Siberia. Furthermore, the demographic history of Siberian populations has led to an unusually strong association between language and genetic variation. The proposed research is a first attempt to develop a comparative genetic framework using data obtained from the same set of samples.The proposed research will directly address three major challenges that now face anthropological geneticists. The multiple locus approach to be taken here will help to understand: (1) which portions of the human genome are variable; (2) how genomic and evolutionary processes have interacted to generate observed patterns of diversity; and (3) what the relative roles of each of these forces have been over different periods of time and in different populations. In addition to having a fascinating evolutionary history, Native Siberian populations represent an ideal model system within which to address these timely issues.