Genomic structural variation contributes to evolved changes in gene expression in high- altitude Tibetan sheep

文献类型： 外文期刊

第一作者： Liang, Xiaolong

作者： Liang, Xiaolong;Duan, Qijiao;Li, Bowen;Wang, Yinjia;Bu, Yueting;Kuang, Zhuoran;Mao, Leyan;An, Xuan;Yang, Xiaojie;Wan, Na;Feng, Zhilong;Shen, Wei;Miao, Weilan;Chen, Jiaqi;Liu, Sanyuan;Liu, Jianquan;Li, Kexin;Zhang, Yonglu;Wang, Huihua;Storz, Jay F.;Nevo, Eviatar

作者机构：

关键词： genomic structural variation; Tibetan sheep; high- altitude adaptation; hypoxia; EPAS1

期刊名称：PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA （ 影响因子：9.4； 五年影响因子：10.8 ）

ISSN： 0027-8424

年卷期： 2024 年 121 卷 27 期

页码：

收录情况： SCI

摘要： Tibetan sheep were introduced to the Qinghai Tibet plateau roughly 3,000 B.P., making this species a good model for investigating genetic mechanisms of high - altitude adaptation over a relatively short timescale. Here, we characterize genomic structural variants (SVs) that distinguish Tibetan sheep from closely related, low - altitude Hu sheep, and we examine associated changes in tissue - specific gene expression. We document differentiation between the two sheep breeds in frequencies of SVs associated with genes involved in cardiac function and circulation. In Tibetan sheep, we identified high - frequency SVs in a total of 462 genes, including EPAS1 , PAPSS2 , and PTPRD . Single - cell RNA - Seq data and luciferase reporter assays revealed that the SVs had cisacting effects on the expression levels of these three genes in specific tissues and cell types. In Tibetan sheep, we identified a high - frequency chromosomal inversion that exhibited modified chromatin architectures relative to the noninverted allele that predominates in Hu sheep. The inversion harbors several genes with altered expression patterns related to heart protection, brown adipocyte proliferation, angiogenesis, and DNA repair. These findings indicate that SVs represent an important source of genetic variation in gene expression and may have contributed to high - altitude adaptation in Tibetan sheep.

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