Sengupta Sanghamitra, Zhivotovsky Lev A, King Roy, Mehdi S Q, Edmonds Christopher A, Chow Cheryl-Emiliane T, Lin Alice A, Mitra Mitashree, Sil Samir K, Ramesh A, Usha Rani M V, Thakur Chitra M, Cavalli-Sforza L Luca, Majumder Partha P, Underhill Peter A
Human Genetics Unit, Indian Statistical Institute, Kolkata, India.
Am J Hum Genet. 2006 Feb;78(2):202-21. doi: 10.1086/499411. Epub 2005 Dec 16.
Although considerable cultural impact on social hierarchy and language in South Asia is attributable to the arrival of nomadic Central Asian pastoralists, genetic data (mitochondrial and Y chromosomal) have yielded dramatically conflicting inferences on the genetic origins of tribes and castes of South Asia. We sought to resolve this conflict, using high-resolution data on 69 informative Y-chromosome binary markers and 10 microsatellite markers from a large set of geographically, socially, and linguistically representative ethnic groups of South Asia. We found that the influence of Central Asia on the pre-existing gene pool was minor. The ages of accumulated microsatellite variation in the majority of Indian haplogroups exceed 10,000-15,000 years, which attests to the antiquity of regional differentiation. Therefore, our data do not support models that invoke a pronounced recent genetic input from Central Asia to explain the observed genetic variation in South Asia. R1a1 and R2 haplogroups indicate demographic complexity that is inconsistent with a recent single history. Associated microsatellite analyses of the high-frequency R1a1 haplogroup chromosomes indicate independent recent histories of the Indus Valley and the peninsular Indian region. Our data are also more consistent with a peninsular origin of Dravidian speakers than a source with proximity to the Indus and with significant genetic input resulting from demic diffusion associated with agriculture. Our results underscore the importance of marker ascertainment for distinguishing phylogenetic terminal branches from basal nodes when attributing ancestral composition and temporality to either indigenous or exogenous sources. Our reappraisal indicates that pre-Holocene and Holocene-era--not Indo-European--expansions have shaped the distinctive South Asian Y-chromosome landscape.
尽管南亚社会等级制度和语言受到的相当一部分文化影响可归因于中亚游牧牧民的到来,但基因数据(线粒体和Y染色体)在南亚部落和种姓的基因起源问题上得出了截然不同的推论。我们试图解决这一冲突,利用来自一大组具有地理、社会和语言代表性的南亚族群的69个信息丰富的Y染色体二元标记和10个微卫星标记的高分辨率数据。我们发现,中亚对既有基因库的影响很小。大多数印度单倍群中积累的微卫星变异的年代超过了10000 - 15000年,这证明了区域分化的古老性。因此,我们的数据不支持那些调用近期来自中亚的显著基因输入来解释南亚观察到的基因变异的模型。R1a1和R2单倍群表明人口结构复杂,这与近期单一历史不一致。对高频R1a1单倍群染色体的相关微卫星分析表明,印度河流域和印度半岛地区有着独立的近期历史。我们的数据也更符合达罗毗荼语使用者起源于半岛的观点,而不是起源于靠近印度河且农业相关的人口扩散带来大量基因输入的观点。我们的结果强调了在将祖先组成和时间性归因于本土或外来来源时,标记确定对于区分系统发育终端分支和基部节点的重要性。我们的重新评估表明,全新世前和全新世时期——而非印欧语系——的扩张塑造了独特的南亚Y染色体格局。