Down-regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-altitude Hypoxia
文献类型：期刊论文
| 作者 | Peng Y1; Cui CY2; Yang DY1; Zhang Q8; Bianbazhuoma3; Yang LX1; He YB1,8; Xiang K1; He YX1,8; Zhang XM1 |
| 刊名 | Molecular Biology and Evolution
 |
| 出版日期 | 2017 |
| 卷号 | 34期号:4页码:818–830 |
| 通讯作者 | sub@mail.kiz.ac.cn ; qixuebin@mail.kiz.ac.cn ; wutianyiqh@hotmail.com |
| 英文摘要 | Tibetans are well adapted to the hypoxic environments at high altitude, yet the molecular mechanism of this adaptation remains elusive. We reported comprehensive genetic and functional analyses of EPAS1, a gene encoding hypoxia inducible factor 2α (HIF-2α) with the strongest signal of selection in previous genome-wide scans of Tibetans. We showed that the Tibetan-enriched EPAS1 variants down-regulate expression in human umbilical endothelial cells and placentas. Heterozygous EPAS1 knockout mice display blunted physiological responses to chronic hypoxia, mirroring the situation in Tibetans. Furthermore, we found that the Tibetan version of EPAS1 is not only associated with the relatively low hemoglobin level as a polycythemia protectant, but also is associated with a low pulmonary vasoconstriction response in Tibetans. We propose that the down-regulation of EPAS1 contributes to the molecular basis of Tibetans’ adaption to high-altitude hypoxia. |
| 资助信息 | This study was supported by grants from the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB13010000), the National Natural Science Foundation of China (91231203, 91631306, 31321002, 31671329, 31371269, 31460287 and 31525014), the National 973 Program of China (2012CB518202), the State Key Laboratory of Genetic Resources and Evolution (GREKF15-05, GREKF16-04), the Zhufeng Scholar Program of Tibetan University, and the Program of Shanghai Academic Research Leader (16XD1404700). |
| 收录类别 | SCI |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10811]  |
| 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, China 2.High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China 3.The Municipal People’s Hospital of Lhasa, Lhasa 850000, China 4.People’s Hospital of Dangxiong County, Dangxiong 851500, China 5.Chinese Academy of Sciences (CAS) Key Laboratory of Computational Biology, Max Planck Independent Research Group on Population Genomics, CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, CAS, Shanghai 200031, China 6.Center for Computational Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China 7.National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China 8.Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing 100101, China 9.Perspective Sciences, Chongqing 401320, China 10.School of Life Science and Technology, ShanghaiTech University, Shanghai 200031, China |
| 推荐引用方式 GB/T 7714 | Peng Y,Cui CY,Yang DY,et al. Down-regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-altitude Hypoxia[J]. Molecular Biology and Evolution,2017,34(4):818–830. |
| APA | Peng Y.,Cui CY.,Yang DY.,Zhang Q.,Bianbazhuoma.,...&Zhang H.(2017).Down-regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-altitude Hypoxia.Molecular Biology and Evolution,34(4),818–830. |
| MLA | Peng Y,et al."Down-regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-altitude Hypoxia".Molecular Biology and Evolution 34.4(2017):818–830. |
入库方式： OAI收割
来源：昆明动物研究所
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