Article
Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans.
Scientific reports - 12 Dec 2014
Xu Xiang-Hong, Huang Xue-Wen, Qun Li, Li Ya-Nan, Wang Yi, Liu Chao, Ma Yanyun, Liu Qing-Mei, Sun Kang, Qian Feng, Jin Li, Wang Jiucun
Abstract excerpt
EPAS1 involves in the hypoxic response and is suggested to be responsible for the genetic adaptation of high-altitude hypoxia in Tibetans. However, the detailed molecular mechanism remains unknown. In this study, a single nucleotide polymorphism rs56721780:G>C and an insertion/deletion (indel) polymorphism -742 indel in the promoter region showed divergence between Tibetans and non-Tibetan lowlanders....
Topics
- Adaptation, Physiological
- Altitude
- Amnion
- Basic Helix-Loop-Helix Transcription Factors
- Birth Weight
- Chromatin Immunoprecipitation
- Female
- Fetal Blood