期刊
GENOME RESEARCH
卷 24, 期 8, 页码 1308-1315出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.171876.113
关键词
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资金
- State Key Basic Research Program (973) [2011CB910204, 2010CB529206, 2011CBA00801]
- CAS [KSCX2-EW-R-04, KSCX2-YW-R-190, XXH12503-02-02-09]
- National Natural Science Foundation of China [31260544, U1036604, 31070752, 31301032]
- Chinese Ministry for Science and Technology [2008BAI64B01]
- Chinese High-Tech RD Program (863) [2013AA102503, 2009AA02Z304, 2012AA020404]
- China Postdoctoral Science Foundation [2013M531226]
- Shanghai Postdoctoral Scientific Program [13R21417300]
- SA-SIBS Scholarship Program
The hypoxic environment imposes severe selective pressure on species living at high altitude. To understand the genetic bases of adaptation to high altitude in dogs, we performed whole-genome sequencing of 60 dogs including five breeds living at continuous altitudes along the Tibetan Plateau from 800 to 5100 m as well as one European breed. More than 150x sequencing coverage for each breed provides us with a comprehensive assessment of the genetic polymorphisms of the dogs, including Tibetan Mastiffs. Comparison of the breeds from different altitudes reveals strong signals of population differentiation at the locus of hypoxia-related genes including endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) and beta hemoglobin cluster. Notably, four novel nonsynonymous mutations specific to high-altitude dogs are identified at EPAS1, one of which occurred at a quite conserved site in the PAS domain. The association testing between EPAS1 genotypes and blood-related phenotypes on additional high-altitude dogs reveals that the homozygous mutation is associated with decreased blood flow resistance, which may help to improve hemorheologic fitness. Interestingly, EPAS1 was also identified as a selective target in Tibetan highlanders, though no amino acid changes were found. Thus, our results not only indicate parallel evolution of humans and dogs in adaptation to high-altitude hypoxia, but also provide a new opportunity to study the role of EPAS1 in the adaptive processes.
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