Supporting Online Material Materials and Methods Figs. S1 to S3 Tables S1 to S5 References Worldwide Human Relationships Inferred from Genome-wide Patterns of Variation
Supporting Online Material Materials and Methods Figs. S1 to S3 Tables S1 to S5 References Worldwide Human Relationships Inferred from Genome-wide Patterns of Variation
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通讯作者：
Jun Z. Li;D. Absher;Hua Tang;Audrey M. Southwick;A. Casto;Sohini Ramachandran;H. Cann;G. Barsh
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作者：
Jun Z. Li;D. Absher;Hua Tang;Audrey M. Southwick;A. Casto;Sohini Ramachandran;H. Cann;G. Barsh
本研究中使用的组织为Cooperative Human Tissue Network， M. Aquafondata用于组织染色，P. S. Schnable用于共享DTS中试测试中使用的cDNA数据集，O. Gjoerup和R. D. Wood提供了有益的评论，J. Zawinul为手稿提供了帮助。部分由NIH R33CA120726和宾夕法尼亚州卫生部资助。宾夕法尼亚州卫生部明确拒绝对任何分析、解释或结论负责。人类遗传多样性受到人口和生物因素的影响，对了解疾病的遗传基础具有根本意义。我们研究了来自人类基因组多样性小组的51个人群的938个无亲缘关系的个体，研究了65万个常见的单核苷酸多态性位点。个体祖先和群体子结构具有非常高的分辨率。单倍型杂合性与地理的关系与撒哈拉以南非洲单一起源的连续奠基人效应的假设一致。此外，我们还观察到一种反映地理区域间种群动态变化的祖先等位基因频率分布模式。该数据集允许对人类遗传变异进行迄今为止最全面的表征。在过去的30年里，研究DNA序列变异的能力极大地增加了我们对人类种群之间关系和历史的认识。对线粒体、Y染色体和常染色体标记的分析揭示了大陆水平上人类种群的地理结构（1-3），并表明一小群人从东非迁移出来，他们的后代随后扩展到今天的大多数人群（3-6）。尽管取得了这些进展，但这些研究仅限于基因组的一小部分，或者局限于有限的种群，或者两者兼而有之，并且对突变、重组、迁移、人口统计学、选择和随机漂变的相对重要性给出了不完整的描述（7-10）。为了大幅增加过去研究的基因组和人口覆盖率（例如，HapMap项目），我们在人类基因组多样性小组（HGDP-CEPH）的样本中检查了超过65万个单核苷酸多态性（snp），这些样本代表了来自亚美洲和美洲51个人群的1064名完全同意的个体（11）。该数据集是免费提供的（12），可以详细描述世界范围内的遗传变异。我们首先研究了每个个体的遗传祖先，而没有使用他/她的群体身份。这种分析认为，每个人的基因组都起源于K个祖先，但未被观察到的种群，这些种群的贡献用每个个体的K个系数之和为1来描述。……
Cooperative Human Tissue Network for tissues used in this study, M. Aquafondata for tissue staining, P. S. Schnable for sharing cDNA data sets used in DTS pilot testing, O. Gjoerup and R. D. Wood for helpful comments, and J. Zawinul for help with the manuscript. Supported in part by funds from NIH R33CA120726 and the Pennsylvania Department of Health. The Pennsylvania Department of Health specifically disclaims responsibility for any analyses, interpretations, or conclusions. Human genetic diversity is shaped by both demographic and biological factors and has fundamental implications for understanding the genetic basis of diseases. We studied 938 unrelated individuals from 51 populations of the Human Genome Diversity Panel at 650,000 common single-nucleotide polymorphism loci. Individual ancestry and population substructure were detectable with very high resolution. The relationship between haplotype heterozygosity and geography was consistent with the hypothesis of a serial founder effect with a single origin in sub-Saharan Africa. In addition, we observed a pattern of ancestral allele frequency distributions that reflects variation in population dynamics among geographic regions. This data set allows the most comprehensive characterization to date of human genetic variation. I n the past 30 years, the ability to study DNA sequence variation has dramatically increased our knowledge of the relationships among and history of human populations. Analyses of mitochondrial, Y chromosomal, and autosomal markers have revealed geographical structuring of human populations at the continental level (1–3) and suggest that a small group of individuals migrated out of eastern Africa and their descendants subsequently expanded into most of today's populations (3–6). Despite this progress, these studies were limited to a small fraction of the genome, to limited populations, or both, and yield an incomplete picture of the relative importance of mutation, recombination, migration, demography , selection, and random drift (7–10). To substantially increase the genomic and population coverage of past studies (e.g., the HapMap Project), we have examined more than 650,000 single-nucleotide polymorphisms (SNPs) in samples from the Human Genome Diversity Panel (HGDP-CEPH), which represents 1064 fully consenting individuals from 51 populations from sub-and the Americas (11). This data set is freely available (12) and allows a detailed characterization of worldwide genetic variation. We first studied genetic ancestry of each individual without using his/her population identity. This analysis considers each person's genome as having originated from K ancestral but unobserved populations whose contributions are described by K coefficients that sum to 1 for each individual. To …