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Down-regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-altitude Hypoxia
author: Peng Y, Cui C, He Y, Ouzhuluobu, Zhang H, Yang D, Zhang Q, Bianbazhuoma, Yang L, He Y, Xiang K, Zhang X, Bhandari S, Shi P, Yangla, Dejiquzong, Baimakangzhuo, Duojizhuoma, Pan Y, Cirenyangji, Baimayangji, Gonggalanzi, Bai C, Bianba, Basang, Ciwangsangbu, Xu S, Chen H, Liu S, Wu T, Qi X, Su B
Abstract: 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.
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Page number: 818-830
Issue: 4
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PubYear: 2017
Volume: 34
Unit code: 152453
Publication name: Moleucular Biology and Evolution
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Paper source: http://mbe.oxfordjournals.org/content/early/2017/01/16/molbev.msw280.abstract
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