Open AccessEP300基因通过调控一氧化氮合成帮助藏族人群适应高原低氧环境
Author(s) -
Wang Shan Zheng,
Yao He,
Chao Cui,
Ouzhu Luobu,
Quzong Deji,
Yi Peng,
Cai Juan Bai,
Zhuoma Duoji,
G. Lanzi,
Ba Bian,
Kangzhuo Baima,
Yong Yue Pan,
la Qu,
MiJin Kang,
Yangji Ciren,
Yangji Baima,
Wei Guo,
Yang La,
Hui Zhang,
Xiao Ming Zhang,
Yong Guo,
Shuhua Xu,
Hua Chen,
Song Zhao,
Yuan Cai,
Shi Ming Liu,
Tian Yi Wu,
Xue Qi,
Bing Su
Publication year - 2017
Publication title -
zoological research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.933
H-Index - 19
ISSN - 2095-8137
DOI - 10.24272/j.issn.2095-8137.2017.036
Subject(s) - biology , genetics , gene , haplotype , allele , adaptation (eye) , neuroscience
The genetic adaptation of Tibetans to high altitude hypoxia likely involves a group of genes in the hypoxic pathway, as suggested by earlier studies. To test the adaptive role of the previously reported candidate gene EP300 (histone acetyltransferase p300), we conducted resequencing of a 108.9 kb gene region of EP300 in 80 unrelated Tibetans. The allele-frequency and haplotype-based neutrality tests detected signals of positive Darwinian selection on EP300 in Tibetans, with a group of variants showing allelic divergence between Tibetans and lowland reference populations, including Han Chinese, Europeans, and Africans. Functional prediction suggested the involvement of multiple EP300 variants in gene expression regulation. More importantly, genetic association tests in 226 Tibetans indicated significant correlation of the adaptive EP300 variants with blood nitric oxide (NO) concentration. Collectively, we propose that EP300 harbors adaptive variants in Tibetans, which might contribute to high-altitude adaptation through regulating NO production.