Sherpas share genetic variations with Tibetans for high- altitude adaptation
文献类型：期刊论文
| 作者 | Bhandari S1,2,3; Zhang XM1; Ouzhuluobu4; Baimakangzhuo4; Gonggalanzi4; Bai CJ4; Bianba4; Peng Y1; Cui CY4; Zhang H1 |
| 刊名 | Molecular Genetics & Genomic Medicine
 |
| 出版日期 | 2016 |
| 卷号 | 5期号:1页码:76-84 |
| 关键词 | Genetic adaptation high altitude hypoxia Sherpa Tibetan |
| 通讯作者 | qixuebin@mail.kiz.ac.cn ; sub@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | BACKGROUND: Sherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. However, the genetic basis of their adaptation to high-altitude environments remains elusive. METHODS: We collected DNA samples of 582 Sherpas from Nepal and Tibetan Autonomous Region of China, and we measured their hemoglobin levels and degrees of blood oxygen saturation. We genotyped 29 EPAS1 SNPs, two EGLN1 SNPs and the TED polymorphism (3.4 kb deletion) in Sherpas. We also performed genetic association analysis among these sequence variants with phenotypic data. RESULTS: We found similar allele frequencies on the tested 32 variants of these genes in Sherpas and Tibetans. Sherpa individuals carrying the derived alleles of EPAS1 (rs113305133, rs116611511 and rs12467821), EGLN1 (rs186996510 and rs12097901) and TED have lower hemoglobin levels when compared with those wild-type allele carriers. Most of the EPAS1 variants showing significant association with hemoglobin levels in Tibetans were replicated in Sherpas. CONCLUSION: The shared sequence variants and hemoglobin trait between Sherpas and Tibetans indicate a shared genetic basis for high-altitude adaptation, consistent with the proposal that Sherpas are in fact a recently derived population from Tibetans and they inherited adaptive variants for high-altitude adaptation from their Tibetan ancestors. |
| 收录类别 | SCI |
| 资助信息 | Strategic Priority Research Program of the Chinese Academy of Sciences (Grant number: XDB13010000), National 973 Program of China (Grant number: 2012CB518202), National Natural Science Foundation of China (Grant number: 91231203), State Key Laboratory of Genetic Resources and Evolution Opening Project (GREKF13-04, GREKF12-04), and Zhufeng Scholar Program of Tibetan University. |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10672]  |
| 专题 | 昆明动物研究所_比较基因组学 昆明动物研究所_遗传资源与进化国家重点实验室 |
| 作者单位 | 1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, Chin 2.Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing 100049, China 3.Nepal Academy of Science and Technology, GPO Box: 3323, Khumaltar, Lalitpur, Nepal 4.High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China 5.Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming 650500, China 6.National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China |
| 推荐引用方式 GB/T 7714 | Bhandari S,Zhang XM,Ouzhuluobu,et al. Sherpas share genetic variations with Tibetans for high- altitude adaptation[J]. Molecular Genetics & Genomic Medicine,2016,5(1):76-84. |
| APA | Bhandari S.,Zhang XM.,Ouzhuluobu.,Baimakangzhuo.,Gonggalanzi.,...&Liu L.(2016).Sherpas share genetic variations with Tibetans for high- altitude adaptation.Molecular Genetics & Genomic Medicine,5(1),76-84. |
| MLA | Bhandari S,et al."Sherpas share genetic variations with Tibetans for high- altitude adaptation".Molecular Genetics & Genomic Medicine 5.1(2016):76-84. |
入库方式： OAI收割
来源：昆明动物研究所
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