论文标题：Population Genomics Analysis Revealed Origin and High-altitude Adaptation of Tibetan Pigs

期刊：Scientific Reports

作者：Yun-Fei Ma,Xu-Man Han,Cui-Ping Huang,Li Zhong,Adeniyi C. Adeola,David M. Irwin,Hai-Bing Xie,Ya-Ping Zhang

发表时间：2019/08/07

数字识别码：10.1038/s41598-019-47711-6

原产于青藏高原的藏猪（Tibetan pig）是如何在进化中逐步适应高海拔环境的呢？来自中国科学院昆明动物研究所的研究人员近期在Scientific Reports上发表文章，展示了他们透过基因组分析对藏猪的进化过程的新理解，该研究对提高我们对动物适应高海拔环境的认识具有重要意义。

藏猪适应了缺氧等高海拔环境条件，然而，这种高原小猪的起源及其遗传机制背后适应高海的原因仍是个谜且存在争议。在此次研究中，研究人员分析了横跨欧亚大陆的229个野生猪和家猪（其中包括63只藏猪）的基因组变异，检测到4960万个高质量变异。系统基因组学和结构分析表明，藏猪与我国北方低地家猪关系密切，具有共同的驯化起源。藏猪与北方低地家猪基因组比较，揭示了其基因组中与高原适应性相关的特征。它们在演化过程中的积极选择基因参与了其适应高原的生理的基因，如缺氧、心血管系统、紫外线损伤、DNA修复等。

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摘要：Tibetan pig is native to the Qinghai-Tibet Plateau and has adapted to the high-altitude environmental condition such as hypoxia. However, its origin and genetic mechanisms underlying high-altitude adaptation still remain controversial and enigmatic. Herein, we analyze 229 genomes of wild and domestic pigs from Eurasia, including 63 Tibetan pigs, and detect 49.6 million high-quality variants. Phylogenomic and structure analyses show that Tibetan pigs have a close relationship with low-land domestic pigs in China, implying a common domestication origin. Positively selected genes in Tibetan pigs involved in high-altitude physiology, such as hypoxia, cardiovascular systems, UV damage, DNA repair. Three of loci with strong signals of selection are associated with EPAS1, CYP4F2, and THSD7A genes, related to hypoxia and circulation. We validated four non-coding mutations nearby EPAS1 and CYP4F2 showing reduced transcriptional activity in Tibetan pigs. A high-frequency missense mutation is found in THSD7A (Lys561Arg) in Tibetan pigs. The selective sweeps in Tibetan pigs was found in association with selection against non-coding variants, indicating an important role of regulatory mutations in Tibetan pig evolution. This study is important in understanding the evolution of Tibetan pigs and advancing our knowledge on animal adaptation to high-altitude environments.

（来源：科学网）