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.
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Acknowledgements
These studies were supported by the Strategic Priority Research Program the Chinese Academy of Sciences (XDB13040100), by the National Science Foundation of China (NSFC) grants (91331204 and 31171218). SX is Max-Planck Independent Research Group Leader and member of CAS Youth Innovation Promotion Association. SX also gratefully acknowledges the support of the National Program for Top-notch Young Innovative Talents of The ‘Ten-Thousand-Talents’ Project and the support of K.C.Wong Education Foundation, Hong Kong. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
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SX conceived and designed the study. HL, WJ, RF, and DL performed data analysis. XP contributed to sample collection. SL, HZ, and YP contributed to the experimental work. SX and HL interpreted the data and wrote the paper. LJ contributed to reagents and materials. All authors have read and approved the final version of the manuscript.
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Lou, H., Li, S., Jin, W. et al. Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups. Eur J Hum Genet 23, 536–542 (2015). https://doi.org/10.1038/ejhg.2014.134
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DOI: https://doi.org/10.1038/ejhg.2014.134
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