Genetic Evidence for Recent Population Mixture in India
Open accessAbstract
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.
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Previously, the West Eurasian population known to be the best proxy for East African West Eurasian ancestry was present-day Sardinians, who resemble Neolithic Europeans genetically.
“Previously, the West Eurasian population known to be the best proxy for this ancestry was present-day Sardinians32, who resemble Neolithic Europeans genetically13,33.”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [33]
The F4 Ratio Estimation section identifies Georgians as a close West Eurasian comparison for Ancestral North Indian ancestry, not for East African ancestry. The Simulations table includes Sardinians as a reference population, but does not identify them as the best proxy for East African West Eurasian ancestry. Searches for Sardinians and Neolithic Europeans found no passage establishing the claimed genetic resemblance. (LLM, conf=0.76)
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- Authors
- Moorjani, P., Thangaraj, K., Patterson, N., Lipson, M., Loh, P.-R., Govindaraj, P., Berger, B., Reich, D., & Singh, L.
- Affiliations
- Broad Institute (US)
- Massachusetts Institute of Technology (US)
- Centre for Cellular and Molecular Biology (IN)
- Corresponding author
- Moorjani, Priya
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 93
- Issue
- 3
- Pages
- 422-438
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3769933
- OpenAlex
- W2110266900
- Cited by
- 350
- References
- 49
- Citations by year
- 2026: 36 · 2025: 24 · 2024: 30 · 2023: 48 · 2022: 13 · 2021: 26 · 2020: 20 · 2019: 24 · 2018: 29 · 2017: 27 · 2016: 28 · 2015: 26 · 2014: 18
- FWCI
- 13.82
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Human Genome Research Institute (R01HG006399)
- National Institute of General Medical Sciences (GM100233, R01GM100233)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- linkage disequilibrium, endogamy, demographic change, Indian subcontinent
- MeSH terms
- Gene Pool, Genetics, Population, Geography, Humans, India, Linguistics, Models, Genetic, Time Factors, Linkage Disequilibrium, Principal Component Analysis, White People
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