Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

被引：51

作者：

Jeong, Choongwon ^{[1
,7
]}

Witonsky, David B. ^{[1
]}

Basnyat, Buddha ^{[2
]}

Neupane, Maniraj ^{[3
]}

Beall, Cynthia M. ^{[4
]}

Childs, Geoff ^{[5
]}

Craig, Sienna R. ^{[6
]}

Novembre, John ^{[1
]}

Di Rienzo, Anna ^{[1
]}

机构：

[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[2] Univ Oxford, Patan Hosp, Clin Res Unit, Kathmandu, Nepal

[3] Mt Med Soc Nepal, Kathmandu, Nepal

[4] Case Western Reserve Univ, Dept Anthropol, Cleveland, OH 44106 USA

[5] Washington Univ, Dept Anthropol, St Louis, MO 63130 USA

[6] Dartmouth Coll, Dept Anthropol, Hanover, NH 03755 USA

[7] Max Planck Inst Sci Human Hist, Dept Archaeogenet, Jena, Germany

来源：

PLOS GENETICS | 2018年 / 14卷 / 09期

基金：

美国国家科学基金会; 美国国家卫生研究院;

关键词：

LOW HEMOGLOBIN CONCENTRATION; RECENT POSITIVE SELECTION; HUMAN ADAPTATION; OXYGEN-SATURATION; HEART-RATE; EPAS1; LOCI; IDENTIFICATION; FRAMEWORK; GENE;

D O I：

10.1371/journal.pgen.1007650

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Adaptive evolution in humans has rarely been characterized for its whole set of components, i.e. selective pressure, adaptive phenotype, beneficial alleles and realized fitness differential. We combined approaches for detecting polygenic adaptations and for mapping the genetic bases of physiological and fertility phenotypes in approximately 1000 indigenous ethnically Tibetan women from Nepal, adapted to high altitude. The results of genome-wide association analyses and tests for polygenic adaptations showed evidence of positive selection for alleles associated with more pregnancies and live births and evidence of negative selection for those associated with higher offspring mortality. Lower hemoglobin level did not show clear evidence for polygenic adaptation, despite its strong association with an EPAS1 haplotype carrying selective sweep signals.

引用

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