Markhor-derived Introgression of a Genomic Region Encompassing PAPSS2 Confers High-altitude Adaptability in Tibetan Goats

文献类型： 外文期刊

第一作者： Li, Chao

作者： Li, Chao;Chen, Bingchun;Cai, Yudong;Kalds, Peter;Zhou, Shiwei;Li, Yan;Zhang, Ke;Li, Lan;Wang, Xihong;Li, Ming;Wang, Yu;Liu, Yao;Huang, Shuhong;Chen, Yulin;Jiang, Yu;Wang, Xiaolong;Li, Chao;Chen, Bingchun;Cai, Yudong;Kalds, Peter;Li, Yan;Zhang, Ke;Li, Lan;Wang, Xihong;Li, Ming;Wang, Yu;Liu, Yao;Huang, Shuhong;Chen, Yulin;Jiang, Yu;Wang, Xiaolong;Li, Chao;Leonard, Alexander S.;Pausch, Hubert;Wu, Yujiang;Suo, Langda;Guo, Jiazhong;Zhou, Shiwei;Zhang, Jingchen;Zhou, Ping;Gan, Shangqu;Zhou, Ping;Gan, Shangqu;Jia, Ting;Pu, Tianchun;Purevdorj, Myagmarsuren;Sonstegard, Tad;Wang, Ming-Shan;Kemp, Stephen;Han, Jian-Lin

作者机构：

关键词： environmental adaptation; high altitude; hypoxia; goat; genomics; genetic introgression

期刊名称：MOLECULAR BIOLOGY AND EVOLUTION （ 影响因子：8.8； 五年影响因子：20.074 ）

ISSN： 0737-4038

年卷期： 2022 年 39 卷 12 期

页码：

收录情况： SCI

摘要： Understanding the genetic mechanism of how animals adapt to extreme conditions is fundamental to determine the relationship between molecular evolution and changing environments. Goat is one of the first domesticated species and has evolved rapidly to adapt to diverse environments, including harsh high-altitude conditions with low temperature and poor oxygen supply but strong ultraviolet radiation. Here, we analyzed 331 genomes of domestic goats and wild caprid species living at varying altitudes (high > 3000 m above sea level and low < 1200 m), along with a reference-guided chromosome-scale assembly (contig-N50: 90.4 Mb) of a female Tibetan goat genome based on PacBio HiFi long reads, to dissect the genetic determinants underlying their adaptation to harsh conditions on the Qinghai-Tibetan Plateau (QTP). Population genomic analyses combined with genome-wide association studies (GWAS) revealed a genomic region harboring the 3 '-phosphoadenosine 5 '-phosphosulfate synthase 2 (PAPSS2) gene showing strong association with high-altitude adaptability (P-GWAS = 3.62 x 10(-25)) in Tibetan goats. Transcriptomic data from 13 tissues revealed that PAPSS2 was implicated in hypoxia-related pathways in Tibetan goats. We further verified potential functional role of PAPSS2 in response to hypoxia in PAPSS2-deficient cells. Introgression analyses suggested that the PAPSS2 haplotype conferring the high-altitude adaptability in Tibetan goats originated from a recent hybridization between goats and a wild caprid species, the markhor (Capra falconeri). In conclusion, our results uncover a hitherto unknown contribution of PAPSS2 to high-altitude adaptability in Tibetan goats on QTP, following interspecific introgression and natural selection.

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