Genetics and archaeogenetics of South Asia
Genetics and archaeogenetics of South Asia
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Genetics and archaeogenetics of South Asia

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Genetics and archaeogenetics of South Asia

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. 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 at the deepest level as a combination of West Eurasian (related to ancient and modern people in Europe and West Asia) 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/Southeast Asians and Australasians, and further include additional, regionally variable East/Southeast Asians components.

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. The West Eurasian ancestry, which is closely related to Mesolithic hunter-gatherers and Neolithic farmers who lived on the Iranian Plateau (who are also closely related to Caucasus hunter-gatherers), 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 (archaeogenetically dubbed the Western Steppe Herders) 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. 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.

Modern South Asians are descendants of a combination of Western Eurasian ancestries (notably "Iranian Neolithic Farmers" and "Western Steppe Herders" components) with an indigenous East Eurasian component (termed Ancient Ancestral South Indians, short "AASI") closest to the non–West Eurasian part extracted from South Asian samples; distantly related to the Andamanese peoples, East/Southeast Asians and Australasians, as well as regional variable additional East/Southeast Asian components respectively.

The proposed AASI lineage, which is hypothesized to represent the ancestry of the very first hunter-gatherers and peoples of the Indian subcontinent, formed around ~40,000 years BCe. It was found that the AASI are distinct from Western Eurasian groups and have a closer genetic affinity with Ancient East Eurasians (such as Andamanese Onge or East Asian peoples) which is suggested to have diverged from Ancient West Eurasians around 48,000 years ago likely on the Persian plateau. Based on this, it has been inferred that the AASI lineage diverged from other Eastern Eurasian lineages, such as 'East and Southeast Asians' and 'Australasians', during their dispersal using a Southern route. The Andamanese people are among the relatively most closely related modern populations to the AASI component and henceforth used as an (imperfect) proxy for it, but others (Yelmen et al. 2019) note that both are deeply diverged from each other, and propose that the AASI type ancestry is closest to the non-West Eurasian part, termed S-component, extracted from the South Asian samples, especially those from the Irula tribe. Shinde et al. 2019 noted that both Andamanese Onge or East Siberian groups can be used as proxy for the non-West Eurasian-related component in the "qpAdm" admixture-modelling of an IVC-related individual (labelled "I6113") because both populations "have the same phylogenetic relationship to the non-West Eurasian-related of I6113 likely due to shared ancestry deeply in time".

Bennett et al. 2024 summarised:

AASI: – Ancient Ancestral South Indian, one of three deeply branching East Asian lineages (with AA and ESEA). This South Asian hunter-gatherer ancestry is found primarily in present-day southern India and South Asia.

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