Genetic Evidence for High-Altitude Adaptation in Tibet

@article{Simonson2010GeneticEF,
  title={Genetic Evidence for High-Altitude Adaptation in Tibet},
  author={Tatum S Simonson and Ying-zhong Yang and Chad D. Huff and Haixia Yun and Ga Qin and David J. Witherspoon and Zhen-zhong Bai and Felipe Ramos Lorenzo and Jinchuan Xing and Lynn B. Jorde and Josef T. Prchal and Rili Ge},
  journal={Science},
  year={2010},
  volume={329},
  pages={72 - 75}
}
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. [] Key Result 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…
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Genetic analysis to two Ethiopian ethnic groups found that variants associated with hemoglobin variation among Tibetans or other variants at the same loci do not influence the trait in Ethiopians, but a significant excess of allele frequency divergence was consistently detected for genes involved in cell cycle control and DNA damage and repair, thus pointing to new pathways for high altitude adaptations.
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