Reconstructing Indian population history

被引:1116
作者
Reich, David [1 ,2 ]
Thangaraj, Kumarasamy [3 ]
Patterson, Nick [2 ]
Price, Alkes L. [2 ,4 ,5 ]
Singh, Lalji [3 ]
机构
[1] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA
[2] Broad Inst Harvard & MIT, Cambridge, MA 02142 USA
[3] Ctr Cellular & Mol Biol, Hyderabad 500007, Andhra Pradesh, India
[4] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA
[5] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA
关键词
Y-CHROMOSOME; GENETIC AFFINITIES; MITOCHONDRIAL; INFERENCE; GENOTYPE; CASTE; HAPLOTYPE; PATTERNS; ORIGINS;
D O I
10.1038/nature08365
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
India has been underrepresented in genome-wide surveys of human variation. We analyse 25 diverse groups in India to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the 'Ancestral North Indians' ( ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, whereas the other, the 'Ancestral South Indians' (ASI), is as distinct from ANI and East Asians as they are from each other. By introducing methods that can estimate ancestry without accurate ancestral populations, we show that ANI ancestry ranges from 39-71% in most Indian groups, and is higher in traditionally upper caste and Indo-European speakers. Groups with only ASI ancestry may no longer exist in mainland India. However, the indigenous Andaman Islanders are unique in being ASI-related groups without ANI ancestry. Allele frequency differences between groups in India are larger than in Europe, reflecting strong founder effects whose signatures have been maintained for thousands of years owing to endogamy. We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically.
引用
收藏
页码:489 / U50
页数:7
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