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Am J Hum Genet DOI:10.1016/j.ajhg.2013.07.006

Genetic evidence for recent population mixture in India.

Publication TypeJournal Article
Year of Publication2013
AuthorsMoorjani, P, Thangaraj, K, Patterson, N, Lipson, M, Loh, P-R, Govindaraj, P, Berger, B, Reich, D, Singh, L
JournalAm J Hum Genet
Date Published2013 Sep 05
KeywordsEuropean Continental Ancestry Group, Gene Pool, Genetics, Population, Geography, Humans, India, Linguistics, Linkage Disequilibrium, Models, Genetic, Principal Component Analysis, Time Factors

Most Indian groups descend from a mixture of two genetically divergent populations: Ancestral North Indians (ANI) related to Central Asians, Middle Easterners, Caucasians, and Europeans; and Ancestral South Indians (ASI) not closely related to groups outside the subcontinent. The date of mixture is unknown but has implications for understanding Indian history. We report genome-wide data from 73 groups from the Indian subcontinent and analyze linkage disequilibrium to estimate ANI-ASI mixture dates ranging from about 1,900 to 4,200 years ago. In a subset of groups, 100% of the mixture is consistent with having occurred during this period. These results show that India experienced a demographic transformation several thousand years ago, from a region in which major population mixture was common to one in which mixture even between closely related groups became rare because of a shift to endogamy.


Alternate JournalAm. J. Hum. Genet.
PubMed ID23932107
PubMed Central IDPMC3769933
Grant ListR01 GM100233 / GM / NIGMS NIH HHS / United States
R01 HG006399 / HG / NHGRI NIH HHS / United States
GM100233 / GM / NIGMS NIH HHS / United States