Genetic evidence for high-altitude adaptation in Tibet

Tatum S. Simonson, Yingzhong Yang, Chad D. Huff, Haixia Yun, Ga Qin, David J. Witherspoon, Zhenzhong Bai, Felipe R. Lorenzo, Jinchuan Xing, Lynn B. Jorde, Josef T. Prchal, Ri Li Ge

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Abstract

Tibetans have lived at very high altitudes for thousands of years, and they have a distinctive suite of physiological traits that enable them to tolerate environmental hypoxia. These phenotypes are clearly the result of adaptation to this environment, but their genetic basis remains unknown. We report genome-wide scans that reveal positive selection in several regions that contain genes whose products are likely involved in high-altitude adaptation. Positively selected haplotypes of EGLN1 and PPARA were significantly associated with the decreased hemoglobin phenotype that is unique to this highland population. Identification of these genes provides support for previously hypothesized mechanisms of high-altitude adaptation and illuminates the complexity of hypoxia-response pathways in humans

Original languageEnglish (US)
Pages (from-to)72-75
Number of pages4
JournalScience
Volume329
Issue number5987
DOIs
StatePublished - Jul 2 2010
Externally publishedYes

All Science Journal Classification (ASJC) codes

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    Simonson, T. S., Yang, Y., Huff, C. D., Yun, H., Qin, G., Witherspoon, D. J., Bai, Z., Lorenzo, F. R., Xing, J., Jorde, L. B., Prchal, J. T., & Ge, R. L. (2010). Genetic evidence for high-altitude adaptation in Tibet. Science, 329(5987), 72-75. https://doi.org/10.1126/science.1189406