文献类型： 外文期刊

作者： Li, Xin ¹ ; He, San-Gang ⁴ ; Li, Wen-Rong ⁴ ; Luo, Ling-Yun ¹ ; Yan, Ze ¹ ; Mo, Dong-Xin ¹ ; Wan, Xing ¹ ; Lv, Feng-Hua ¹ ; Yang, Ji ¹ ; Xu, Ya-Xi ¹ ; Deng, Juan ¹ ; Zhu, Qiang-Hui ¹ ; Xie, Xing-Long ² ; Xu, Song-Song ² ; Liu, Chen-Xi ⁴ ; Peng, Xin-Rong ⁴ ; Han, Bin ⁴ ; Li, Zhong-Hui ⁴ ; Chen, Lei ⁴ ; Han, Jian-Lin ⁶ ; Ding, Xue-Zhi ⁸ ; Dingkao, Renqing ⁹ ; Chu, Yue-Feng ¹⁰ ; Wu, Jin-Yan ¹⁰ ; Wang, Li-Min ¹¹ ; Zhou, Ping ¹¹ ; Liu, Ming-Jun ⁴ ; Li, Meng-Hua ¹ ;

作者机构： 1.China Agr Univ, Coll Anim Sci & Technol, Beijing 100193, Peoples R China

2.Chinese Acad Sci, Inst Zool, Key Lab Anim Ecol & Conservat Biol 2CAS, Beijing 100101, Peoples R China

3.Univ Chinese Acad Sci UCAS, Coll Life Sci, Beijing 100049, Peoples R China

4.Xinjiang Acad Anim Sci, MOA Key Lab Ruminant Genet Breeding & Reprod, Key Lab Anim Technol Xinjiang, Urumqi 830000, Peoples R China

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

6.Chinese Acad Agr Sci CAAS, Inst Anim Sci, ILRI Joint Lab Livestock & Forage Genet Resources, CAAS, Beijing 100193, Peoples R China

7.Int Livestock Res Inst ILRI, Livestock Genet Program, Nairobi 00100, Kenya

8.Chinese Acad Agr Sci, Lanzhou Inst Husb & Pharmaceut Sci, Key Lab Vet Pharmaceut Dev Minist Agr MOA 8MOA, Lanzhou 730050, Peoples R China

9.Gannan Tibetan Autonomous Prefecture, Inst Anim Sci & Vet Med, Hezuo 747000, Peoples R China

10.Chinese Acad Agr Sci, Lanzhou Vet Res Inst, State Key Lab Vet Etiol Biol, Lanzhou 730046, Peoples R China

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

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

期刊名称：GENOME RESEARCH （ 影响因子：9.438； 五年影响因子：13.537 ）

ISSN： 1088-9051

年卷期： 2022 年 32 卷 9 期

页码：

收录情况： SCI

摘要： Understanding the genetic mechanisms of phenotypic variation in hybrids between domestic animals and their wild relatives may aid germplasm innovation. Here, we report the high-quality genome assemblies of a male Pamir argali (O. ammon polii, 2n = 56), a female Tibetan sheep (O. aries, 2n = 54), and a male hybrid of Pamir argali and domestic sheep, and the high-throughput sequencing of 425 ovine animals, including the hybrids of argali and domestic sheep. We detected genomic synteny between Chromosome 2 of sheep and two acrocentric chromosomes of argali. We revealed consistent satellite repeats around the chromosome breakpoints, which could have resulted in chromosome fusion. We observed many more hybrids with karyotype 2n = 54 than with 2n = 55, which could be explained by the selfish centromeres, the possible decreased rate of normal/balanced sperm, and the increased incidence of early pregnancy loss in the aneuploid ewes or rams. We identified genes and variants associated with important morphological and production traits (e.g., body weight, cannon circumference, hip height, and tail length) that show significant variations. We revealed a strong selective signature at the mutation (c.334C > A, p.G112W) in TBXT and confirmed its association with tail length among sheep populations of wide geographic and genetic origins. We produced an intercross population of 110 F-2 offspring with varied number of vertebrae and validated the causal mutation by whole-genome association analysis. We verified its function using CRISPR-Cas9 genome editing. Our results provide insights into chromosomal speciation and phenotypic evolution and a foundation of genetic variants for the breeding of sheep and other animals.