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

Huerta-Sanchez, Emilia, Jin, Xin, Asan, Bianba, Zhuoma, Peter, Benjamin M., Vinckenbosch, Nicolas, Liang, Yu, Yi, Xin, He, Mingze, Somel, Mehmet, Ni, Peixiang, Wang, Bo, Ou, Xiaohua, Huasang, Luosang, Jiangbai, Cuo, Zha Xi Ping, Li, Kui, Gao, Guoyi, Yin, Ye, Wang, Wei, Zhang, Xiuqing, Xu, Xun, Yang, Huanming, Li, Yingrui, Wang, Jian, Wang, Jun and Nielsen, Rasmus (2014) Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. Nature, 512 7513: 194-197. doi:10.1038/nature13408

Author Huerta-Sanchez, Emilia
Jin, Xin
Bianba, Zhuoma
Peter, Benjamin M.
Vinckenbosch, Nicolas
Liang, Yu
Yi, Xin
He, Mingze
Somel, Mehmet
Ni, Peixiang
Wang, Bo
Ou, Xiaohua
Luosang, Jiangbai
Cuo, Zha Xi Ping
Li, Kui
Gao, Guoyi
Yin, Ye
Wang, Wei
Zhang, Xiuqing
Xu, Xun
Yang, Huanming
Li, Yingrui
Wang, Jian
Wang, Jun
Nielsen, Rasmus
Title Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA
Journal name Nature   Check publisher's open access policy
ISSN 1476-4687
Publication date 2014-08-13
Year available 2014
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1038/nature13408
Open Access Status Not Open Access
Volume 512
Issue 7513
Start page 194
End page 197
Total pages 4
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Abstract As modern humans migrated out of Africa, they encountered many new environmental conditions, including greater temperature extremes, different pathogens and higher altitudes. These diverse environments are likely to have acted as agents of natural selection and to have led to local adaptations. One of the most celebrated examples in humans is the adaptation of Tibetans to the hypoxic environment of the high-altitude Tibetan plateau. A hypoxia pathway gene, EPAS1, was previously identified as having the most extreme signature of positive selection in Tibetans, and was shown to be associated with differences in haemoglobin concentration at high altitude. Re-sequencing the region around EPAS1 in 40 Tibetan and 40 Han individuals, we find that this gene has a highly unusual haplotype structure that can only be convincingly explained by introgression of DNA from Denisovan or Denisovan-related individuals into humans. Scanning a larger set of worldwide populations, we find that the selected haplotype is only found in Denisovans and in Tibetans, and at very low frequency among Han Chinese. Furthermore, the length of the haplotype, and the fact that it is not found in any other populations, makes it unlikely that the haplotype sharing between Tibetans and Denisovans was caused by incomplete ancestral lineage sorting rather than introgression. Our findings illustrate that admixture with other hominin species has provided genetic variation that helped humans to adapt to new environments.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collection: Institute for Molecular Bioscience - Publications
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