文献类型： 外文期刊

作者： Xia, Xiaoting ¹ ; Wang, Fuwen ¹ ; Luo, Xiaoyu ¹ ; Li, Shuang ¹ ; Lyu, Yang ³ ; Zheng, Yining ¹ ; Ma, Zhijie ² ; Qu, Kaixing ⁵ ; Song, Rende ⁶ ; Liu, Jianyong ⁷ ; Zhang, Jicai ⁷ ; Wangdui, Basang ⁸ ; Zhuzha, Basang ⁸ ; Quji, Suolang ⁸ ; Zhao, Li ⁸ ; Wangmu, Silang ⁸ ; Luobu, Ciren ⁸ ; Cangjue, Nima ⁸ ; Luosang, Danzeng ⁸ ; Sizhu, Suolang ⁹ ; Cheng, Haijian ¹⁰ ; Li, Ruizhe ⁴ ; Wu, Zhipeng ⁴ ; Dang, Ruihua ¹ ; Huang, Yongzhen ¹ ; Lan, Xianyong ¹ ; Xu, Luohao ¹¹ ; Hu, Haifei ¹² ; Low, Waiyee ¹⁴ ; Zheng, Zhuqing ¹⁶ ; Wang, Yu ¹ ; Gao, Yuanpeng ¹⁷ ; Deng, Lu ¹ ; Lenstra, Johannes A. ¹⁸ ; Han, Jianlin ¹ ; Yang, Xueyi ²⁰ ; Lyu, Wenfa ³ ; Huang, Bizhi ⁷ ; Lei, Chuzhao ¹ ; Chen, Ningbo ¹ ;

作者机构： 1.Northwest A&F Univ, Coll Anim Sci & Technol, Key Lab Anim Genet Breeding & Reprod Shaanxi Prov, Yangling 712100, Peoples R China

2.Qinghai Univ, State Key Lab Plateau Ecol & Agr, Xining 810016, Peoples R China

3.Jilin Agr Univ, Coll Anim Sci & Technol, Key Lab Anim Prod Prod Qual & Secur, Minist Educ, Changchun 130118, Peoples R China

4.Qinghai Univ, Qinghai Acad Anim Sci & Vet Med, Xining 810016, Peoples R China

5.Chuxiong Normal Univ, Acad Sci & Technol, Chuxiong 675099, Peoples R China

6.Anim Dis Prevent & Control Ctr Yushu Tibetan Auton, Yushu 810099, Peoples R China

7.Yunnan Acad Grassland & Anim Sci, Kunming 650500, Peoples R China

8.Tibet Acad Agr & Anim Husb Sci, Inst Anim Husb & Vet Sci, Lhasa 850030, Peoples R China

9.Tibet Agr & Anim Husb Univ, Anim Sci Coll, Nyingchi 860000, Peoples R China

10.Shandong Acad Agr Sci, Inst Anim Sci & Vet Med, Shandong Key Lab Anim Dis Control & Breeding, Jinan 271018, Peoples R China

11.Southwest Univ, Coll Life Sci, Key Lab Aquat Sci Chongqing, Chongqing 400715, Peoples R China

12.Guangdong Acad Agr Sci, Rice Res Inst, Guangdong Key Lab New Technol Rice Breeding, Guangzhou 510640, Peoples R China

13.Guangdong Acad Agr Sci, Guangdong Rice Engn Lab, Guangzhou 510640, Peoples R China

14.Univ Adelaide, Sch Anim & Vet Sci, Davies Res Ctr, Roseworthy, SA 5371, Australia

15.Univ Doha Sci & Technol, Coll Comp & Informat Technol, Doha 00974, Qatar

16.Jingchu Univ Technol, Coll Food & Biol, Jingmen 448000, Hubei, Peoples R China

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

18.Univ Utrecht, Fac Vet Med, NL-7758 Utrecht, Netherlands

19.Yazhouwan Natl Lab, Sanya 572024, Peoples R China

20.Luoyang Normal Univ, Life Sci Coll, Luoyang 471934, Peoples R China

关键词： cattle; coat color; genome assembly; high-altitude adaptation; structural variation

期刊名称：ADVANCED SCIENCE （ 影响因子：14.1； 五年影响因子：15.6 ）

ISSN：

年卷期： 2025 年 12 卷 31 期

页码：

收录情况： SCI

摘要： Structural variations (SVs) play crucial roles in the evolutionary adaptation of domesticated animals to natural and human-controlled environments, but SVs have not been explored in Tibetan cattle, which recently migrated and rapidly adapted to the high altitudes of the Qinghai-Tibetan Plateau (QTP). In this study, a de novo chromosome-level genome assembly for Tibetan cattle is constructed. It is found that using a lineage-specific reference genome significantly increased variant detection accuracy and completeness. Analysis of long-read sequencing data from 36 high-altitude QTP and 48 low-altitude cattle identified 222 528 SVs and 259 SV hotspot regions. Positively selected SVs in high-altitude cattle are related to energy metabolism erythropoiesis and angiogenesis, and peroxisomal metabolism. A 102-bp intronic deletion in GNPAT likely upregulated its expression. It is distinguished 7293 SVs that may be introgressed from yak, including variants upstream of the hypoxia-inducing gene EGLN1. Finally, a approximate to 2-Mb heterozygous inversion and two translocations on chromosome 6 are likely associated with the cattle gray coat via regulatory effects on the KIT gene. The results confirm the importance of SVs in evolutionary adaptation and the contribution yak-introgressed SVs to the rapid acclimatization of QTP cattle.