Genome-wide DNA methylation landscape of four Chinese populations and epigenetic variation linked to Tibetan high-altitude adaptation  

作　　者：Zeshan Lin Yan Lu Guoliang Yu Huajing Teng Bao Wang Yajun Yang Qinglan Li Zhongsheng Sun Shuhua Xu Wen Wang Peng Tian 

机构地区：[1]School of Ecology and Environment,Northwestern Polytechnical University,Xi’an 710072,China [2]State Key Laboratory of Genetic Engineering,Center for Evolutionary Biology,Collaborative Innovation Center of Genetics and Development,School of Life Sciences,Fudan University,Shanghai 200438,China [3]GrandOmics Biosciences,Beijing 102200,China [4]Department of Radiation Oncology,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Peking University Cancer Hospital and Institute,Beijing 100142,China [5]Human Phenome Institute,Zhangjiang Fudan International Innovation Center,and Ministry of Education Key Laboratory of Contemporary Anthropology,Fudan University,Shanghai 201203,China [6]Beijing Institutes of Life Science,Chinese Academy of Sciences,Beijing 100101,China [7]School of Life Science and Technology,ShanghaiTech University,Shanghai 201210,China [8]Center for Excellence in Animal Evolution and Genetics,Chinese Academy of Sciences,Kunming 650223,China [9]State Key Laboratory of Crop Stress Biology for Arid Areas and College of Agronomy,Northwest A&F University,Yangling 712100,China

出　　处：《Science China(Life Sciences)》2023年第10期2354-2369,共16页中国科学（生命科学英文版）

基　　金：the National Key Research and Development Program of China(2016YFC0900402);the Basic Science Center Program(32288101);the National Natural Science Foundation of China(32030020 and 31961130380);the Shanghai Municipal Science and Technology Major Project(2017SHZDZX01)。

摘　　要：DNA methylation(DNAm)is one of the major epigenetic mechanisms in humans and is important in diverse cellular processes.The variation of DNAm in the human population is related to both genetic and environmental factors.However,the DNAm profiles have not been investigated in the Chinese population of diverse ethnicities.Here,we performed double-strand bisulfite sequencing(DSBS)for 32 Chinese individuals representing four major ethnic groups including Han Chinese,Tibetan,Zhuang,and Mongolian.We identified a total of 604,649 SNPs and quantified DNAm at more than 14 million Cp Gs in the population.We found global DNAm-based epigenetic structure is different from the genetic structure of the population,and ethnic difference only partially explains the variation of DNAm.Surprisingly,non-ethnic-specific DNAm variations showed stronger correlation with the global genetic divergence than these ethnic-specific DNAm.Differentially methylated regions(DMRs)among these ethnic groups were found around genes in diverse biological processes.Especially,these DMR-genes between Tibetan and nonTibetans were enriched around high-altitude genes including EPAS1 and EGLN1,suggesting DNAm alteration plays an important role in high-altitude adaptation.Our results provide the first batch of epigenetic maps for Chinese populations and the first evidence of the association of epigenetic changes with Tibetans'high-altitude adaptation.

关 键 词：DNA methylation double-strand bisulfite sequencing Chinese ethnic groups Tibetan high-altitude adaptation 

分 类 号：R394[医药卫生—医学遗传学]