Abstract

BackgroundIndia is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has been frequently connected to the so-called “Indo-Aryan invasions” from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time remains extremely controversial. South India, on the other hand, is dominated by Dravidian languages. India displays a high level of endogamy due to its strict social boundaries, and high genetic drift as a result of long-term isolation which, together with a very complex history, makes the genetic study of Indian populations challenging.ResultsWe have combined a detailed, high-resolution mitogenome analysis with summaries of autosomal data and Y-chromosome lineages to establish a settlement chronology for the Indian Subcontinent. Maternal lineages document the earliest settlement ~55–65 ka (thousand years ago), and major population shifts in the later Pleistocene that explain previous dating discrepancies and neutrality violation. Whilst current genome-wide analyses conflate all dispersals from Southwest and Central Asia, we were able to tease out from the mitogenome data distinct dispersal episodes dating from between the Last Glacial Maximum to the Bronze Age. Moreover, we found an extremely marked sex bias by comparing the different genetic systems.ConclusionsMaternal lineages primarily reflect earlier, pre-Holocene processes, and paternal lineages predominantly episodes within the last 10 ka. In particular, genetic influx from Central Asia in the Bronze Age was strongly male-driven, consistent with the patriarchal, patrilocal and patrilineal social structure attributed to the inferred pastoralist early Indo-European society. This was part of a much wider process of Indo-European expansion, with an ultimate source in the Pontic-Caspian region, which carried closely related Y-chromosome lineages, a smaller fraction of autosomal genome-wide variation and an even smaller fraction of mitogenomes across a vast swathe of Eurasia between 5 and 3.5 ka.

Highlights

  • India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families

  • We aimed to provide a refined mitochondrial DNA (mtDNA) phylogeographic portrait of South Asia, including most crucially an assessment of the extent of genetic influx from other regions, in order to assess the impact of immigration during the Late Glacial, postglacial, Neolithic and Bronze Age periods in shaping genetic diversity and structure in South Asia

  • Indigenous South Asian mtDNA lineages: An explanation for the anomalous age of haplogroup M The complete phylogeny for autochthonous South Asian M, N and R lineages is shown in Additional file 2 including age estimates for the main nodes

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Summary

Introduction

India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and in Pakistan and Bangladesh, has been frequently connected to the so-called “Indo-Aryan invasions” from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time remains extremely controversial. Following the out-of-Africa (OOA) migration, South Asia (or the Indian Subcontinent, here comprising India, Pakistan, Bangladesh, Sri Lanka, Nepal and Bhutan) was probably one of the earliest corridors of dispersal taken by anatomically modern humans (AMH) [1,2,3]. Indo-European is often associated with northern Indian populations, Pakistan and Bangladesh, and a putative arrival in South Asia from Southwest Asia ~3.5 ka (the so-called “Indo-Aryan invasions”) has been frequently connected with the origins of the caste system [11, 12]. Some studies suggested a greater affinity of upper castes to European and Southwest Asian populations than lower castes [13, 14], genetic data have provided no clear evidence for the “Indo-Aryan invasions” so far [15], and their very existence is challenged by many archaeologists [16]

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