Structural Variations Associated with Adaptation and Coat Color in Qinghai-Tibetan Plateau Cattle
文献类型: 外文期刊
第一作者: Xia, Xiaoting
作者: Xia, Xiaoting;Wang, Fuwen;Luo, Xiaoyu;Li, Shuang;Zheng, Yining;Dang, Ruihua;Huang, Yongzhen;Lan, Xianyong;Wang, Yu;Deng, Lu;Han, Jianlin;Lei, Chuzhao;Chen, Ningbo;Wang, Fuwen;Ma, Zhijie;Lyu, Yang;Lyu, Wenfa;Ma, Zhijie;Li, Ruizhe;Wu, Zhipeng;Qu, Kaixing;Song, Rende;Liu, Jianyong;Zhang, Jicai;Huang, Bizhi;Wangdui, Basang;Zhuzha, Basang;Quji, Suolang;Zhao, Li;Wangmu, Silang;Luobu, Ciren;Cangjue, Nima;Luosang, Danzeng;Sizhu, Suolang;Cheng, Haijian;Xu, Luohao;Hu, Haifei;Hu, Haifei;Low, Waiyee;Low, Waiyee;Zheng, Zhuqing;Gao, Yuanpeng;Lenstra, Johannes A.;Han, Jianlin;Lyu, Wenfa;Yang, Xueyi
作者机构:
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
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.
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