Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA

Emilia Huerta-Sánchez, Xin Jin, Asan, Zhuoma Bianba, Benjamin M. Peter, Nicolas Vinckenbosch, Yu Liang, Xin Yi, Mingze He, Mehmet Somel, Peixiang Ni, Bo Wang, Xiaohua Ou, Huasang, Jiangbai Luosang, Zha Xi Ping Cuo, Kui Li, Guoyi Gao, Ye Yin, Wei Wang, Xiuqing Zhang, Xun Xu, Huanming Yang, Yingrui Li, Jian Wang (), Jun Wang () and Rasmus Nielsen ()
Additional contact information
Emilia Huerta-Sánchez: BGI-Shenzhen
Xin Jin: BGI-Shenzhen
Asan: BGI-Shenzhen
Zhuoma Bianba: The People’s Hospital of Lhasa
Benjamin M. Peter: University of California
Nicolas Vinckenbosch: University of California
Yu Liang: BGI-Shenzhen
Xin Yi: BGI-Shenzhen
Mingze He: BGI-Shenzhen
Mehmet Somel: Middle East Technical University, 06800 Ankara, Turkey
Peixiang Ni: BGI-Shenzhen
Bo Wang: BGI-Shenzhen
Xiaohua Ou: BGI-Shenzhen
Huasang: BGI-Shenzhen
Jiangbai Luosang: BGI-Shenzhen
Zha Xi Ping Cuo: The Second People’s Hospital of Tibet Autonomous Region
Kui Li: The People's Hospital of the Tibet Autonomous Region
Guoyi Gao: The hospital of XiShuangBanNa Dai Nationalities, Autonomous Jinghong
Ye Yin: BGI-Shenzhen
Wei Wang: BGI-Shenzhen
Xiuqing Zhang: BGI-Shenzhen
Xun Xu: BGI-Shenzhen
Huanming Yang: BGI-Shenzhen
Yingrui Li: BGI-Shenzhen
Jian Wang: BGI-Shenzhen
Jun Wang: BGI-Shenzhen
Rasmus Nielsen: BGI-Shenzhen

Nature, 2014, vol. 512, issue 7513, 194-197

Abstract: Admixture with other hominin species helped humans to adapt to high-altitude environments; the EPAS1 gene in Tibetan individuals has an unusual haplotype structure that probably resulted from introgression of DNA from Denisovan or Denisovan-related individuals into humans, and this haplotype is only found in Denisovans and Tibetans, and at low frequency among Han Chinese.

Date: 2014
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DOI: 10.1038/nature13408

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