Tatum S. Simonson1, Yingzhong Yang2, Chad Huff1, Haixia Yun2, Qin Ga2, David J. Witherspoon1, Zhenzhong Bai2, Felipe R. Lorenzo3, Jinchuan Xing1, Lynn B. Jorde1, Josef T. Prchal3,1, Ri-Li Ge2
1Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
2Research Center for High-Altitude Medicine, Qinghai University Medical School, Xining, Qinghai 810001, People's Republic of China.
3Division of Hematology and Department of Pathology (ARUP), University of Utah School of Medicine and VAH, Salt Lake City, UT 84112, USA.
Tóm tắt
No Genetic Vertigo
Peoples living in high altitudes have adapted to their situation (see the Perspective by
Storz
). To identify gene regions that might have contributed to high-altitude adaptation in Tibetans,
Simonson
et al.
(p.
72
, published online 13 May) conducted a genome scan of nucleotide polymorphism comparing Tibetans, Han Chinese, and Japanese, while
Yi
et al.
(p.
75
) performed comparable analyses on the coding regions of all genes—their exomes. Both studies converged on a gene,
endothelial Per-Arnt-Sim domain protein 1
(also known as
hypoxia-inducible factor 2
α), which has been linked to the regulation of red blood cell production. Other genes identified that were potentially under selection included adult and fetal hemoglobin and two functional candidate loci that were correlated with low hemoglobin concentration in Tibetans. Future detailed functional studies will now be required to examine the mechanistic underpinnings of physiological adaptation to high altitudes.
