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Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans 期刊论文

编号：

be33a7d8-a7ef-4d0d-a0e2-e1d26b883144
作者：

Xu, XiangHong^[1,2,3] Huang, XueWen^[4,5] Qun, Li^[6] Li, YaNan^[1,2,3] Wang, Yi^[1,2,3] Liu, Chao^[7] Ma, Yanyun^[1,2,3] Liu, QingMei^[1,2,3] Sun, Kang^[7,8] Qian, Feng^[1,2,3] Jin, Li^[1,2,3] Wang, Jiucun^[1,2,3]
语种：

English
期刊：

SCIENTIFIC REPORTS ISSN：2045-2322 2014 年 4 卷 ; DEC 12
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摘要：

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. rs56721780: G>C regulated the transcription of EPAS1 by IKAROS family zinc finger 1 (IKZF1), which was identified as a new transcriptional repressor for EPAS1 gene. It demonstrated that the C allele of rs56721780: G>C decreased the binding of IKZF1, leading to the attenuated transcriptional repression of EPAS1 gene. The insertion at -742 indel provided a new binding site for Sp1 and was related to the activation of EPAS1 promoter. Further functional analysis revealed that lysyl oxidase (LOX) gene, which was reported to be responsible for extracellular matrix protein cross-linking of amnion previously, was a direct target of EPAS1. The CC genotype at rs56721780: G>C and the insertion genotype at -742 indel were found associated with higher EPAS1 and LOX expression levels in amnion, as well as higher birth weight of Tibetan newborns, suggesting that EPAS1 gene might play important roles in the development of amnion, fetus growth and high-altitude adaptation of Tibetans.
推荐引用方式
GB/T 7714：

Xu Xiang-Hong,Huang Xue-Wen,Qun Li, et al. Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans [J].SCIENTIFIC REPORTS,2014,4.
APA：

Xu Xiang-Hong,Huang Xue-Wen,Qun Li,Li Ya-Nan,&Wang Jiucun.(2014).Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans .SCIENTIFIC REPORTS,4.
MLA：

Xu Xiang-Hong, et al. "Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans" .SCIENTIFIC REPORTS 4(2014).

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