Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans

KIZ OpenIR > 科研部门 > 比较基因组学（宿兵）

	Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans
	Zheng, WS; He, YX; Guo, YB; Yue, T; Zhang, H; Li, J; Zhou, B; Zeng, XR; Li, LY; Wang, B; Cao, JX; Chen, L; Li, CX; Li, HY; Cui, CY; Bai, CJ; Qi, XB; Su, B
	2023
发表期刊	GENOME BIOLOGY
ISSN	1474-760X
卷号	24 期号:1
摘要	BackgroundTibetans are genetically adapted to high-altitude environments. Though many studies have been conducted, the genetic basis of the adaptation remains elusive due to the poor reproducibility for detecting selective signatures in the Tibetan genomes.ResultsHere, we present whole-genome sequencing (WGS) data of 1001 indigenous Tibetans, covering the major populated areas of the Qinghai-Tibetan Plateau in China. We identify 35 million variants, and more than one-third of them are novel variants. Utilizing the large-scale WGS data, we construct a comprehensive map of allele frequency and linkage disequilibrium and provide a population-specific genome reference panel, referred to as 1KTGP. Moreover, with the use of a combined approach, we redefine the signatures of Darwinian-positive selection in the Tibetan genomes, and we characterize a high-confidence list of 4320 variants and 192 genes that have undergone selection in Tibetans. In particular, we discover four new genes, TMEM132C, ATP13A3, SANBR, and KHDRBS2, with strong signals of selection, and they may account for the adaptation of cardio-pulmonary functions in Tibetans. Functional annotation and enrichment analysis indicate that the 192 genes with selective signatures are likely involved in multiple organs and physiological systems, suggesting polygenic and pleiotropic effects.ConclusionsOverall, the large-scale Tibetan WGS data and the identified adaptive variants/genes can serve as a valuable resource for future genetic and medical studies of high-altitude populations.
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14058
专题	科研部门_比较基因组学（宿兵）
推荐引用方式 GB/T 7714	Zheng, WS,He, YX,Guo, YB,et al. Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans[J]. GENOME BIOLOGY,2023,24(1).
APA	Zheng, WS.,He, YX.,Guo, YB.,Yue, T.,Zhang, H.,...&Su, B.(2023).Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.GENOME BIOLOGY,24(1).
MLA	Zheng, WS,et al."Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans".GENOME BIOLOGY 24.1(2023).

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