The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection

被引:42
作者
Ayub, Qasim [1 ]
Mezzavilla, Massimo [1 ,2 ]
Pagani, Luca [1 ,3 ]
Haber, Marc [1 ]
Mohyuddin, Aisha [4 ]
Khaliq, Shagufta [5 ]
Mehdi, Syed Qasim [6 ]
Tyler-Smith, Chris [1 ]
机构
[1] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England
[2] Univ Trieste, Inst Maternal & Child IRCCS Burlo Garofolo, I-34137 Trieste, Italy
[3] Univ Cambridge, Div Biol Anthropol, Cambridge CB2 1QH, England
[4] Shifa Tameer E Millat Univ, Shifa Coll Med, Biochem Sect, Islamabad 44000, Pakistan
[5] Univ Hlth Sci, Dept Human Genet Mol Biol, Lahore 54000, Pakistan
[6] Sindh Inst Urol & Transplantat, Ctr Human Genet & Mol Med, Karachi 74200, Pakistan
基金
英国惠康基金;
关键词
HIGH-ALTITUDE; POPULATION; SNP; ADAPTATION; COMPONENTS; LANDSCAPE; ALLELES; HISTORY;
D O I
10.1016/j.ajhg.2015.03.012
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The Kalash represent an enigmatic isolated population of Indo-European speakers who have been living for centuries in the Hindu Kush mountain ranges of present-day Pakistan. Previous Y chromosome and mitochondrial DNA markers provided no support for their claimed Greek descent following Alexander III of Macedon's invasion of this region, and analysis of autosomal loci provided evidence of a strong genetic bottleneck. To understand their origins and demography further, we genotyped 23 unrelated Kalash samples on the Illumina HumanOmni2.5M-8 BeadChip and sequenced one male individual at high coverage on an Illumina HiSeq 2000. Comparison with published data from ancient hunter-gatherers and European farmers showed that the Kalash share genetic drift with the Paleolithic Siberian hunter-gatherers and might represent an extremely drifted ancient northern Eurasian population that also contributed to European and Near Eastern ancestry. Since the split from other South Asian populations, the Kalash have maintained a low long-term effective population size (2,319-2,603) and experienced no detectable gene flow from their geographic neighbors in Pakistan or from other extant Eurasian populations. The mean time of divergence between the Kalash and other populations currently residing in this region was estimated to be 11,800 (95% confidence interval = 10,600-12,600) years ago, and thus they represent present-day descendants of some of the earliest migrants into the Indian sub-continent from West Asia.
引用
收藏
页码:775 / 783
页数:9
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