Genetic diversity in India and the inference of Eurasian population expansion.
Genetic diversity in India and the inference of Eurasian population expansion.
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DOI：
10.1186/gb-2010-11-11-r113
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发表时间：
2010
期刊：
影响因子：
12.3
通讯作者：
Yu F
中科院分区：
文献类型：
--
作者：
Xing J;Watkins WS;Hu Y;Huff CD;Sabo A;Muzny DM;Bamshad MJ;Gibbs RA;Jorde LB;Yu F
由于印度庞大的人口规模、复杂的人口历史和独特的社会结构，对印度次大陆人群的遗传学研究引起了极大的兴趣。尽管最近在发现人类遗传变异方面进行了大规模的努力，但印度巨大的遗传多样性储备在很大程度上仍未得到开发。为了分析印度遗传多样性的公正样本，并调查欧亚大陆的人类迁移历史，我们对从印度南部安得拉邦的三个种姓和一个部落群体收集的92个样本中的一个100 kb的ENCODE区域进行了重新测序。对4个印度人群体和8个HapMap群体（692个样本）的分析沿着显示，在南印度人群体中所有SNP的30%在HapMap群体中未观察到。几个印度种群，例如Yadava、Mala/Madiga和Irula，其核苷酸多样性水平与HapMap非洲种群一样高。使用无偏等位基因频率谱，我们调查了人类种群向欧亚大陆的扩张。主要人群之间的分歧时间估计表明，这项研究中的欧亚人群在同一时间范围内（大约9万至11万年前）从非洲人中分化出来。不同欧亚人种之间的分歧发生在他们与非洲人分歧之后的40，000多年。我们的研究结果表明，印度人群中存在大量的遗传变异，这些变异尚未被公共SNP发现工作充分调查。我们的数据还支持延迟扩张假说，即祖先欧亚创始人口在非洲以外的散居之后很长时间内保持孤立，然后在整个欧亚大陆扩张。
Genetic studies of populations from the Indian subcontinent are of great interest because of India's large population size, complex demographic history, and unique social structure. Despite recent large-scale efforts in discovering human genetic variation, India's vast reservoir of genetic diversity remains largely unexplored. To analyze an unbiased sample of genetic diversity in India and to investigate human migration history in Eurasia, we resequenced one 100-kb ENCODE region in 92 samples collected from three castes and one tribal group from the state of Andhra Pradesh in south India. Analyses of the four Indian populations, along with eight HapMap populations (692 samples), showed that 30% of all SNPs in the south Indian populations are not seen in HapMap populations. Several Indian populations, such as the Yadava, Mala/Madiga, and Irula, have nucleotide diversity levels as high as those of HapMap African populations. Using unbiased allele-frequency spectra, we investigated the expansion of human populations into Eurasia. The divergence time estimates among the major population groups suggest that Eurasian populations in this study diverged from Africans during the same time frame (approximately 90 to 110 thousand years ago). The divergence among different Eurasian populations occurred more than 40,000 years after their divergence with Africans. Our results show that Indian populations harbor large amounts of genetic variation that have not been surveyed adequately by public SNP discovery efforts. Our data also support a delayed expansion hypothesis in which an ancestral Eurasian founding population remained isolated long after the out-of-Africa diaspora, before expanding throughout Eurasia.
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影响因子：
4.5
作者：
Gutenkunst RN;Hernandez RD;Williamson SH;Bustamante CD
通讯作者：
Bustamante CD
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Stoneking, M
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Majumder, PP
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作者：
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通讯作者：
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