Ancestral origins and post-admixture adaptive evolution of highland Tajiks

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外文摘要：It remains debatable how many genes and how various the mechanisms are behind human adaptation to extreme environments,such as high altitudes.Despite extensive studies on Tibetans,Andeans and Ethiopians,new insights are expected to be provided with careful analysis of underrepresented highlanders living in a different geographical region,such as the Tajiks,who reside on the Pamir Plateau at an average altitude exceeding 4000 meters.Moreover,genetic admixture,as we observed in the current whole-genome deep-sequencing study of Xinjiang Tajiks(XJT),offers a unique opportunity to explore how admixture may facilitate adaptation to high-altitude environments.Compared with other extensively studied highlanders,XJT showed pronounced admixture patterns:most of their ancestry are derived from West Eurasians(34.5％-48.3％)and South Asians(21.4％-40.0％),and some minor ancestry from East Asians and Siberians(3.62％-17.5％).The greater genetic diversity in XJT than in their ancestral source populations provides a genetic basis for their adaptation to high-altitude environments.The admixture gain of functional adaptive components from ancestral populations could facilitate adaptation to high-altitude environments.Specifically,admixture-facilitated adaptation was strongly associated with skin-related candidate genes that respond to UV radiation(e.g.HERC2 and BNC2)and cardiovascular-system-related genes(e.g.MPI and BEST1).Notably,no adaptive variants of genes showing outstanding natural selection signatures in the Tibetan or Andean highlanders were identified in XJT,including EPAS1 and EGLN1,indicating that a different set of genes contributed to XJT's survival on the Pamir Plateau,although some genes underlying natural selection in XJT have been previously reported in other highlanders.Our results highlight the unique genetic adaptations in XJT and propose that admixture may play a vital role in facilitating high-altitude adaptation.By introducing and elevating diversity,admixture likely induces novel genetic factors that contribute to the survival of populations in extreme environments like the highlands.

外文关键词：

Tajikspopulation structuregenetic admixturehighlandlocal adaptationepidermis protectioncardiovascular system

作者：

Jia Wen、Jiaojiao Liu、Qidi Feng、Yan Lu、Kai Yuan、Xiaoxi Zhang、Chao Zhang、Yang Gao、Xiaoji Wang、Dolikun Mamatyusupu、Shuhua Xu

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作者单位：

State Key Laboratory of Genetic Engineering,Human Phenome Institute,Zhangjiang Fudan International Innovation Center,Center for Evolutionary Biology,School of Life Sciences,Department of Liver Surgery and Transplantation,Liver Cancer Institute,Zhongshan Hospital,Fudan University,Shanghai 200032,China

School of Life Science and Technology,ShanghaiTech University,Shanghai 201210,China

Key Laboratory of Computational Biology,Shanghai Institute of Nutrition and Health,University of Chinese Academy of Sciences,Chinese Academy of Sciences,Shanghai 200031,China

Ministry of Education Key Laboratory of Contemporary Anthropology,Fudan University,Shanghai 200438,China

College of the Life Sciences and Technology,Xinjiang University,Urumqi 830046,China

Key Laboratory of Computational Biology,Shanghai Institute of Nutrition and Health,University of Chinese Academy of Sciences,C

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基金：

National Key Research and Development Program of ChinaNational Natural Science Foundation of China(NSFC)National Natural Science Foundation of China(NSFC)Shanghai Science and Technology Commission ProgramOffice of Global Partnerships(Key Projects Development Fund)Computing for the Future at Fudan(CFFF)PlatformHuman Phenome Data Center of Fudan University

项目编号：

2023YFC2605400322881013203002023JS1410100

出版年：

2024

DOI：

10.1093/nsr/nwae284

国家科学评论(英文版)

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ISSN：

年,卷(期)：2024.11(9)