Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia; Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi, India.
Curr Opin Genet Dev. 2018 Dec;53:128-133. doi: 10.1016/j.gde.2018.09.003. Epub 2018 Oct 1.
South Asia is home for more than a billion people culturally structured into innumerable groups practicing different levels of endogamy. Linguistically South Asia is broadly characterized by four major language families which has served as access way for disentangling the genetic makings of South Asia. In this review we shall give brief account on the recent developments in the field. Advances are made in two fronts simultaneously. Whole genome characterisation of many extant South Asians paint the picture of the genetic diversity and its implications to health-care. On the other hand ancient DNA studies, which are finally reaching South Asia, provide new incites to the demographic history of the subcontinent. Before the spread of agriculture, South Asia was likely inhabited by hunter-gatherer groups deriving much of their ancestry from a population that split from the rest of humanity soon after expanding from Africa. Early Iranian agriculturalists mixing with these local hunter-gatherers probably formed the population that flourished during the blossoming of the Indus Valley Civilisation. Further admixture with the still persisting HG groups and population(s) from the Eurasian Steppe, formed the two ancestral populations (ANI and ASI), the north-south mixing pattern of whom is known today as the 'Indian Cline'. Studies on natural selection in South Asia have so far revealed strong signals of sweeps that are shared with West Eurasians. Future studies will have to fully unlock the aDNA promise for South Asia.
南亚是一个拥有超过十亿人口的家园，这些人口在文化上被结构化为数以千计的群体，每个群体都实行不同程度的内婚制。从语言上看，南亚广泛的特点是由四个主要的语言家族组成，这些语言家族为解开南亚的遗传构成提供了途径。在这篇综述中，我们将简要介绍该领域的最新进展。进展是在两个方面同时取得的。对许多现存南亚人的全基因组特征描绘了遗传多样性及其对医疗保健的影响。另一方面，古代 DNA 研究最终也在南亚展开，为该次大陆的人口历史提供了新的见解。在农业传播之前，南亚可能居住着狩猎采集者群体，他们的大部分祖先都来自于一个在从非洲扩张后不久就与人类其他部分分离的种群。早期的伊朗农民与这些当地的狩猎采集者混合，可能形成了在印度河谷文明繁荣时期繁荣的人口。与仍在继续的狩猎采集者群体和欧亚草原的人口进一步混合，形成了两个祖先群体（ANI 和 ASI），他们的南北混合模式今天被称为“印度线”。对南亚自然选择的研究迄今为止揭示了与西欧亚人共享的强烈的基因 sweep 信号。未来的研究将不得不充分挖掘南亚的 aDNA 潜力。
