title: Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups.
abstract: Xinjiang is geographically located in central Asia, and it has played an important historical role in connecting eastern Eurasian (EEA) and western Eurasian (WEA) people. However, human population genomic studies in this region have been largely underrepresented, especially with respect to studies of copy number variations (CNVs). Here we constructed the first CNV map of the three major ethnic minority groups, the Uyghur, Kazakh and Kirgiz, using Affymetrix Genome-Wide Human SNP Array 6.0. We systematically compared the properties of CNVs we identified in the three groups with the data from representatives of EEA and WEA. The analyses indicated a typical genetic admixture pattern in all three groups with ancestries from both EEA and WEA. We also identified several CNV regions showing significant deviation of allele frequency from the expected genome-wide distribution, which might be associated with population-specific phenotypes. Our study provides the first genome-wide perspective on the CNVs of three major Xinjiang ethnic minority groups and has implications for both evolutionary and medical studies.
authors.affiliation: 1] Max Planck Independent Research Group on Population Genomics Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China [2] Chinese Academy of Sciences Key Laboratory of Computational Biology, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
authors.forename: Haiyi
authors.initials: H
authors.lastname: Lou
authors.affiliation: Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Shilin
authors.initials: S
authors.lastname: Li
authors.affiliation: Max Planck Independent Research Group on Population Genomics Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
authors.forename: Wenfei
authors.initials: W
authors.lastname: Jin
authors.affiliation: Max Planck Independent Research Group on Population Genomics Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
authors.forename: Ruiqing
authors.initials: R
authors.lastname: Fu
authors.affiliation: Max Planck Independent Research Group on Population Genomics Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Lu
authors.affiliation: Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Xinwei
authors.initials: X
authors.lastname: Pan
authors.affiliation: Key Laboratory of Forensic Evidence and Scene Technology, Ministry of Public Security and Shanghai Key Laboratory of Crime Scene Evidence, Shanghai, China.
authors.forename: Huaigu
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Forensic Evidence and Scene Technology, Ministry of Public Security and Shanghai Key Laboratory of Crime Scene Evidence, Shanghai, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ping
authors.affiliation: 1] Chinese Academy of Sciences Key Laboratory of Computational Biology, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China [2] Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China [3] Key Laboratory of Forensic Evidence and Scene Technology, Ministry of Public Security and Shanghai Key Laboratory of Crime Scene Evidence, Shanghai, China.
authors.forename: Li
authors.initials: L
authors.lastname: Jin
authors.affiliation: 1] Max Planck Independent Research Group on Population Genomics Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China [2] Chinese Academy of Sciences Key Laboratory of Computational Biology, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
authors.forename: Shuhua
authors.initials: S
authors.lastname: Xu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D056915:DNA Copy Number Variations; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D015894:Genome, Human; D006801:Humans; D015810:Linkage Disequilibrium; D010641:Phenotype; D058974:Phylogeography; D020641:Polymorphism, Single Nucleotide