Global distribution of genomic diversity underscores rich complex history of continental human populations
Global distribution of genomic diversity underscores rich complex history of continental human populations
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DOI：
10.1101/gr.088898.108
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发表时间：
2009-05-01
期刊：
影响因子：
7
通讯作者：
Bustamante, Carlos D.
中科院分区：
文献类型：
--
作者：
Auton, Adam;Bryc, Katarzyna;Bustamante, Carlos D.
描述人类群体内和群体间的遗传变异模式对于理解人类进化史和精心设计医学遗传学研究非常重要。在这里，我们分析了来自四个大陆地区的3845名个体的443，434个单核苷酸多态性（SNP）基因型的变异模式。这种独特的资源使我们能够在全基因组范围内阐明以前研究不足的人群的多样性模式，包括拉丁美洲，南亚和南欧。我们的分析提供的关键见解包括量化的程度混合在一个大集合的个人从墨西哥瓜达拉哈拉，确定语言和地理作为人口结构的关键决定因素在印度，并阐明了南北梯度在欧洲的单倍型多样性。我们还提出了一种新的方法，用于识别远距离的纯合性指示最近的共同祖先。我们的方法的应用表明，在纯合性的程度在人群内和人群之间的巨大变化，这表明人口统计学的历史（如人口瓶颈）和最近的祖先事件（如血缘关系）发挥了重要作用，在大型现代人群的模式化变化。
Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north-south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.