文献类型： 外文期刊

作者： Li, Chao ¹ ; Wu, Yujiang ⁴ ; Chen, Bingchun ¹ ; Cai, Yudong ¹ ; Guo, Jiazhong ⁵ ; Leonard, Alexander S. ³ ; Kalds, Peter ¹ ; Zhou, Shiwei ¹ ; Zhang, Jingchen ⁶ ; Zhou, Ping ⁷ ; Gan, Shangqu ⁷ ; Jia, Ting ⁹ ; Pu, Tianchun ⁹ ; Suo, Langda ⁴ ; Li, Yan ¹ ; Zhang, Ke ¹ ; Li, Lan ¹ ; Purevdorj, Myagmarsuren ¹⁰ ; Wang, Xihong ¹ ; Li, Ming ¹ ; Wang, Yu ¹ ; Liu, Yao ¹ ; Huang, Shuhong ¹ ; Sonstegard, Tad ¹¹ ; Wang, Ming-Shan ¹² ; Kemp, Stephen ¹³ ; Pausch, Hubert ³ ; Chen, Yulin ¹ ; Han, Jian-Lin ¹³ ; Jiang, Yu ¹ ; Wang, Xiaolong ¹ ;

作者机构： 1.Northwest A&F Univ, Int Joint Agr Res Ctr Anim Biobreeding, Minist Agr, Yangling 712100, Peoples R China

2.Northwest A&F Univ, Coll Anim Sci & Technol, Rural Affairs Key Lab Anim Genet Breeding & Reprod, Yangling 712100, Peoples R China

3.Swiss Fed Inst Technol, Anim Genom, CH-8092 Zurich, Switzerland

4.Tibet Acad Agr & Anim Husb Sci, Inst Anim Sci, Lhasa 850009, Peoples R China

5.Sichuan Agr Univ, Coll Anim Sci & Technol, Chengdu 611130, Peoples R China

6.Northwest A&F Univ, Coll Vet Med, Yangling 712100, Peoples R China

7.Xinjiang Acad Agr & Reclamat Sci, Inst Anim Husb & Vet Med, Shihezi 832000, Peoples R China

8.Xinjiang Acad Agr & Reclamat Sci, State Key Lab Sheep Genet Improvement & Hlth Breed, Shihezi 832000, Peoples R China

9.Beijing Zoo, Beijing Key Lab Capt Wildlife Technol, Beijing 100044, Peoples R China

10.Mongolian Univ Life Sci, Res Inst Anim Husb, Lab Anim Genet & Anim Reprod Technol, Ulaanbaatar 17024, Mongolia

11.Acceligen Inc, St Paul, MN 55104 USA

12.Univ Calif St Cruz, Howard Hughes Med Inst, Santa Cruz, CA 94720 USA

13.Int Livestock Res Inst ILRI, Livestock Genet Program, Nairobi 3070900100, Kenya

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.