Ancestral origins and post-admixture adaptive evolution of highland Tajiks

doi:10.1093/nsr/nwae284

	Ancestral origins and post-admixture adaptive evolution of highland Tajiks
	Wen, Jia 1; Liu, Jiaojiao1,2 ; Feng, Qidi 3; Lu, Yan 1,4; Yuan, Kai 3; Zhang, Xiaoxi2,3 ; Zhang, Chao 3; Gao, Yang 1; Wang, Xiaoji 3; Mamatyusupu, Dolikun 5; Xu, Shuhua1,2,3
	2024-10-03
发表期刊	NATIONAL SCIENCE REVIEW (IF:16.3[JCR-2023],18.6[5-Year])
ISSN	2095-5138
EISSN	2053-714X
卷号	11 期号:9
发表状态	已发表
DOI	10.1093/nsr/nwae284
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.
关键词	Tajiks population structure genetic admixture highland local adaptation epidermis protection cardiovascular system
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收录类别	SCI ; EI
语种	英语
资助项目	National Key Research and Development Program of China[2023YFC2605400] ; National Natural Science Foundation of China (NSFC)["32288101","32030020"] ; Shanghai Science and Technology Commission Program[23JS1410100]
WOS研究方向	Science & Technology - Other Topics
WOS类目	Multidisciplinary Sciences
WOS记录号	WOS:001328402200002
出版者	OXFORD UNIV PRESS
EI入藏号	20244217226633
EI主题词	Genome
EI分类号	101.7.1 ; 102.1.2.1 ; 103 ; 971 Social Sciences
原始文献类型	Journal article (JA)
文献类型	期刊论文
条目标识符	https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/436497
专题	生命科学与技术学院生命科学与技术学院_特聘教授组_徐书华组生命科学与技术学院_博士生
通讯作者	Xu, Shuhua
作者单位	1.Fudan Univ, Zhongshan Hosp, Liver Canc Inst, State Key Lab Genet Engn,Human Phenome Inst,Zhangj, Shanghai 200032, Peoples R China 2.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 201210, Peoples R China 3.Univ Chinese Acad Sci, Shanghai Inst Nutr & Hlth, Chinese Acad Sci, Key Lab Computat Biol, Shanghai 200031, Peoples R China 4.Fudan Univ, Key Lab Contemporary Anthropol, Minist Educ, Shanghai 200438, Peoples R China 5.Xinjiang Univ, Coll Life Sci & Technol, Urumqi 830046, Peoples R China
通讯作者单位	生命科学与技术学院
推荐引用方式 GB/T 7714	Wen, Jia,Liu, Jiaojiao,Feng, Qidi,et al. Ancestral origins and post-admixture adaptive evolution of highland Tajiks[J]. NATIONAL SCIENCE REVIEW,2024,11(9).
APA	Wen, Jia.,Liu, Jiaojiao.,Feng, Qidi.,Lu, Yan.,Yuan, Kai.,...&Xu, Shuhua.(2024).Ancestral origins and post-admixture adaptive evolution of highland Tajiks.NATIONAL SCIENCE REVIEW,11(9).
MLA	Wen, Jia,et al."Ancestral origins and post-admixture adaptive evolution of highland Tajiks".NATIONAL SCIENCE REVIEW 11.9(2024).