Population admixture results in genome-wide combinations of genetic variants derived from different ancestral populations of distinct ancestry,thus providing a unique opportunity for understanding the genetic determinants of phenotypic variation in humans.Here,we used whole-genome sequencing of 92 individuals with high coverage(30-60×)to systematically investigate genomic diversity in the Uyghurs living in Xinjiang,China(XJU),an admixed population of both European-like and East-Asian-like ancestry.The XJU population shows greater genetic diversity,especially a higher proportion of rare variants,compared with their ancestral source populations,corresponding to greater phenotypic diversity of XJU.Admixture-induced functional variants in EDAR were associated with the diversity of facial morphology in XJU.Interestingly,the interaction of functional variants between SLC24A5 and OCA2 likely influences the diversity of skin pigmentation.Notably,selection has seemingly been relaxed or canceled in several genes with significantly biased ancestry,such as HERC2-OCA2.Moreover,signatures of post-admixture adaptation in XJU were identified,including genes related to metabolism(e.g.CYP2D6),digestion(e.g.COL11A1),olfactory perception(e.g.ANO2)and immunity(e.g.HLA).Our results demonstrated population admixture as a driving force,locally or globally,in shaping human genetic and phenotypic diversity as well as in adaptive evolution.

Yuwen Pan;Chao Zhang;Yan Lu;Zhilin Ning;Dongsheng Lu;Yang Gao;Xiaohan Zhao;Yajun Yang;Yaqun Guan;Dolikun Mamatyusupu;Shuhua Xu

Key Laboratory of Computational Biology,Shanghai Institute of Nutrition and Health,University of Chinese Academy of Sciences,Chinese Academy of Sciences,Shanghai 200031,China;State Key Laboratory of Genetic Engineering and Ministry of Education(MOE)Key Laboratory of Contemporary Anthropology,Collaborative Innovation Center for Genetics and Development,School of Life Sciences,Fudan University,Shanghai 200438,China;School of Life Science and Technology,ShanghaiTech University,Shanghai 201210,China;Human Phenome Institute,Fudan University,Shanghai 201203,China;Department of Biochemistry and Molecular Biology,Preclinical Medicine College,Xinjiang Medical University,Urumqi 830011,China;College of the Life Sciences and Technology,Xinjiang University,Urumqi 830046,China;Center for Excellence in Animal Evolution and Genetics,Chinese Academy of Sciences,Kunming 650223,China;Henan Institute of Medical and Pharmaceutical Sciences,Zhengzhou Univeisity,Zhengzhou 450052,China

国家科学评论（英文版）

[1]Yuwen Pan;Chao Zhang;Yan Lu;Zhilin Ning;Dongsheng Lu;Yang Gao;Xiaohan Zhao;Yajun Yang;Yaqun Guan;Dolikun Mamatyusupu;Shuhua Xu-.Genomic diversity and post-admixture adaptation in the Uyghurs)[J].国家科学评论（英文版）,2022(03):68-80

Uyghurs,XJU,admixed,ANO2

Genomic,diversity,post,admixture,adaptation,Population,results,genome,wide,combinations,genetic,variants,derived,from,different,ancestral,populations,distinct,ancestry,thus,providing,unique,opportunity,understanding,determinants,phenotypic,variation,humans,Here,used,whole,sequencing,individuals,coverage,systematically,investigate,genomic,living,Xinjiang,China,both,European,East,Asian,shows,greater,especially,higher,proportion,rare,compared,their,source,corresponding,Admixture,induced,functional,EDAR,were,associated,facial,morphology,Interestingly,interaction,between,SLC24A5,OCA2,likely,influences,skin,pigmentation,Notably,selection,has,seemingly,been,relaxed,canceled,several,genes,significantly,biased,such,HERC2,Moreover,signatures,identified,including,related,metabolism,CYP2D6,digestion,COL11A1,olfactory,perception,immunity,HLA,Our,demonstrated,driving,force,locally,globally,shaping,well,adaptive,evolution

0.579187