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Nature. 2014 Aug 14;512(7513):194-7. doi: 10.1038/nature13408. Epub 2014 Jul 2.

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

Author information

1
1] BGI-Shenzhen, Shenzhen 518083, China [2] Department of Integrative Biology, University of California, Berkeley, California 94720 USA [3] School of Natural Sciences, University of California, Merced, California 95343 USA [4].
2
1] BGI-Shenzhen, Shenzhen 518083, China [2] School of Bioscience and Bioengineering, South China University of Technology, Guangzhou 510006, China [3].
3
1] BGI-Shenzhen, Shenzhen 518083, China [2] Binhai Genomics Institute, BGI-Tianjin, Tianjin 300308, China [3] Tianjin Translational Genomics Center, BGI-Tianjin, Tianjin 300308, China [4].
4
1] The People's Hospital of Lhasa, Lhasa 850000, China [2].
5
Department of Integrative Biology, University of California, Berkeley, California 94720 USA.
6
1] BGI-Shenzhen, Shenzhen 518083, China [2] Binhai Genomics Institute, BGI-Tianjin, Tianjin 300308, China [3] Tianjin Translational Genomics Center, BGI-Tianjin, Tianjin 300308, China.
7
1] BGI-Shenzhen, Shenzhen 518083, China [2] Bioinformatics and Computational Biology Program, Iowa State University, Ames, Iowa 50011, USA.
8
Department of Biological Sciences, Middle East Technical University, 06800 Ankara, Turkey.
9
BGI-Shenzhen, Shenzhen 518083, China.
10
The Second People's Hospital of Tibet Autonomous Region, Lhasa 850000, China.
11
The People's Hospital of the Tibet Autonomous Region, Lhasa 850000, China.
12
The hospital of XiShuangBanNa Dai Nationalities, Autonomous Jinghong, 666100 Yunnan, China.
13
1] BGI-Shenzhen, Shenzhen 518083, China [2] The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, 518083 Shenzhen, China [3] Shenzhen Key Laboratory of Transomics Biotechnologies, BGI-Shenzhen, 518083 Shenzhen, China.
14
1] BGI-Shenzhen, Shenzhen 518083, China [2] Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589, Saudi Arabia [3] James D. Watson Institute of Genome Science, 310008 Hangzhou, China.
15
1] BGI-Shenzhen, Shenzhen 518083, China [2] James D. Watson Institute of Genome Science, 310008 Hangzhou, China.
16
1] BGI-Shenzhen, Shenzhen 518083, China [2] Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589, Saudi Arabia [3] Department of Biology, University of Copenhagen, Ole MaaløesVej 5, 2200 Copenhagen, Denmark [4] Macau University of Science and Technology, AvenidaWai long, Taipa, Macau 999078, China [5] Department of Medicine, University of Hong Kong 999077, Hong Kong.
17
1] BGI-Shenzhen, Shenzhen 518083, China [2] Department of Integrative Biology, University of California, Berkeley, California 94720 USA [3] Department of Statistics, University of California, Berkeley, California 94720, USA [4] Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark.

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.

PMID:
25043035
PMCID:
PMC4134395
DOI:
10.1038/nature13408
[Indexed for MEDLINE]
Free PMC Article
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