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Genetics and archaeogenetics of South Asia information


Genetics and archaeogenetics of South Asia is the study of the genetics and archaeogenetics of the ethnic groups of South Asia. It aims at uncovering these groups' genetic histories. The geographic position of the Indian subcontinent makes its biodiversity important for the study of the early dispersal of anatomically modern humans across Asia.

Based on mitochondrial DNA (mtDNA) variations, genetic unity across various South Asian subpopulations have shown that most of the ancestral nodes of the phylogenetic tree of all the mtDNA types originated in the subcontinent.[1][2][3][4] Conclusions of studies based on Y chromosome variation and autosomal DNA variation have been varied.

The genetic makeup of modern South Asians can be described as a combination of West Eurasian ancestries with divergent East Eurasian ancestries. The latter primarily include a proposed indigenous South Asian component (termed Ancient Ancestral South Indians, short "AASI") that is distantly related to the Andamanese peoples, as well as to East Asians and Aboriginal Australians, and further include additional, regionally variable East/Southeast Asians components.[5][6][7][8]

The proposed AASI type ancestry is closest to the non-West Eurasian part, termed S-component, extracted from South Asian samples, especially those from the Irula tribe, and is generally found throughout all South Asian ethnic groups in varying degrees.[6] The West Eurasian ancestry, specifically an Ancient Iranian-related component, forms the major source of the South Asian genetic makeup, and combined with varying degrees of AASI ancestry, formed the Indus Periphery Cline around ~5400–3700 BCE, which constitutes the main ancestral heritage of most modern South Asian groups. The Indus Periphery ancestry, around the 2nd millennium BCE, mixed with another West Eurasian wave, the incoming mostly male-mediated Yamnaya-Steppe component to form the Ancestral North Indians (ANI), while at the same time it contributed to the formation of Ancestral South Indians (ASI) by admixture with hunter-gatherers having higher proportions of AASI-related ancestry. The ANI-ASI gradient, as demonstrated by the higher proportion of ANI in traditionally upper caste and Indo-European speakers, that resulted because of the admixture between the ANI and the ASI after 2000 BCE at various proportions is termed as the Indian Cline.[5][6][9][10] The East Asian ancestry component forms the major ancestry among Tibeto-Burmese and Khasian speakers, and is generally restricted to the Himalayan foothills and Northeast India, with substantial presence also in Munda-speaking groups, as well as in some populations of northern, central and eastern South Asia.[11][12][13][14][15][16][17]

  1. ^ Cite error: The named reference Kivisild_1999b was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference Baig_2004 was invoked but never defined (see the help page).
  3. ^ Cite error: The named reference Kumar was invoked but never defined (see the help page).
  4. ^ Cite error: The named reference Tripathy_2008 was invoked but never defined (see the help page).
  5. ^ a b Narasimhan VM, Patterson N, Moorjani P, Rohland N, Bernardos R, Mallick S, et al. (September 2019). "The formation of human populations in South and Central Asia". Science. 365 (6457): eaat7487. doi:10.1126/science.aat7487. PMC 6822619. PMID 31488661.
  6. ^ a b c Yelmen B, Mondal M, Marnetto D, Pathak AK, Montinaro F, Gallego Romero I, et al. (August 2019). "Ancestry-Specific Analyses Reveal Differential Demographic Histories and Opposite Selective Pressures in Modern South Asian Populations". Molecular Biology and Evolution. 36 (8): 1628–1642. doi:10.1093/molbev/msz037. PMC 6657728. PMID 30952160. The two main components (i.e., autochthonous South Asian and West Eurasian) of Indian genetic variation form one of the deepest splits among non-African groups, which took place when South Asian populations separated from East Asian and Andamanese populations, shortly after having separated from West Eurasian populations (Mondal et al. 2016; Narasimhan et al. 2018).
  7. ^ Cite error: The named reference Yang_2022 was invoked but never defined (see the help page).
  8. ^ Pathak, Ajai K.; Kadian, Anurag; Kushniarevich, Alena; Montinaro, Francesco; Mondal, Mayukh; Ongaro, Linda; Singh, Manvendra; Kumar, Pramod; Rai, Niraj; Parik, Jüri; Metspalu, Ene; Rootsi, Siiri; Pagani, Luca; Kivisild, Toomas; Metspalu, Mait (6 December 2018). "The Genetic Ancestry of Modern Indus Valley Populations from Northwest India". The American Journal of Human Genetics. 103 (6): 918–929. doi:10.1016/j.ajhg.2018.10.022. ISSN 0002-9297. PMC 6288199. PMID 30526867. S2CID 54476711. A previous ancient-DNA study has suggested that the Iran_N and Steppe_EMBA groups are the best proxies for the ancient West Eurasian component in South Asians. The study also suggested that most South Asians can be modeled as a mixture of these two groups but also have Onge- and Han-related ancestries.
  9. ^ Cite error: The named reference Reich_2009 was invoked but never defined (see the help page).
  10. ^ Broushaki F, Thomas MG, Link V, López S, van Dorp L, Kirsanow K, et al. (July 2016). "Early Neolithic genomes from the eastern Fertile Crescent". Science. 353 (6298): 499–503. Bibcode:2016Sci...353..499B. doi:10.1126/science.aaf7943. PMC 5113750. PMID 27417496.; Lay summary in: "Prehistoric genomes from the world's first farmers in the Zagros mountains reveal different Neolithic ancestry for Europeans and South Asians". ScienceDaily. Retrieved 26 November 2021. The research team found that the Iranian genomes represent the main ancestors of modern-day South Asians. ...the Zagros people of the Neolithic eastern Fertile Crescent that are ancestral to most modern South Asians...
  11. ^ Cite error: The named reference ChaubeyEast was invoked but never defined (see the help page).
  12. ^ Chaubey G, Metspalu M, Choi Y, Mägi R, Romero IG, Soares P, et al. (February 2011). "Population genetic structure in Indian Austroasiatic speakers: the role of landscape barriers and sex-specific admixture". Molecular Biology and Evolution. 28 (2): 1013–1024. doi:10.1093/molbev/msq288. PMC 3355372. PMID 20978040.
  13. ^ Chaubey G, Kadian A, Bala S, Rao VR (10 June 2015). "Genetic Affinity of the Bhil, Kol and Gond Mentioned in Epic Ramayana". PLOS ONE. 10 (6): e0127655. Bibcode:2015PLoSO..1027655C. doi:10.1371/journal.pone.0127655. PMC 4465503. PMID 26061398. S2CID 848806.
  14. ^ Das R, Upadhyai P (June 2019). "Investigating the West Eurasian ancestry of Pakistani Hazaras". Journal of Genetics. 98 (2): 43. doi:10.1007/s12041-019-1093-2. PMID 31204712. S2CID 145022010.
  15. ^ Lazaridis I, Nadel D, Rollefson G, Merrett DC, Rohland N, Mallick S, et al. (August 2016). "Genomic insights into the origin of farming in the ancient Near East". Nature. 536 (7617): 419–424. Bibcode:2016Natur.536..419L. doi:10.1038/nature19310. PMC 5003663. PMID 27459054.
  16. ^ Chaubey G, Singh M, Crivellaro F, Tamang R, Nandan A, Singh K, et al. (December 2014). "Unravelling the distinct strains of Tharu ancestry". European Journal of Human Genetics. 22 (12): 1404–1412. doi:10.1038/ejhg.2014.36. PMC 4231405. PMID 24667789.
  17. ^ Arciero E, Kraaijenbrink T, Haber M, Mezzavilla M, Ayub Q, Wang W, et al. (August 2018). "Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations". Molecular Biology and Evolution. 35 (8): 1916–1933. doi:10.1093/molbev/msy094. PMC 6063301. PMID 29796643.

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