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骆驼和羚羊沙漠适应性趋同进化的基因组学见解。

Genomic insights into the convergent evolution of desert adaptation in camels and antelopes.

作者信息

Zhou Jiong, Zhou Xiao-Fang, Yue Hui-Shan, Chen Wu, Li Bin, Zhou Bo-Tong, Li Zi-He, Du Ze-Cheng, Mao Yi-Fan, Wang Wen, Wu Dong-Dong, Han Ge, Wang Bao, Chen Lei

机构信息

Shaanxi Key Laboratory of Qinling Ecological Intelligent Monitoring and Protection, School of Ecology and Environment, Northwestern Polytechnical University, Xi'an, Shaanxi 710072, China.

Guangzhou Zoo and Guangzhou Wildlife Research Center, Guangzhou, Guangdong 510070, China.

出版信息

Zool Res. 2025 Jul 18;46(4):939-952. doi: 10.24272/j.issn.2095-8137.2024.440.

Abstract

Extreme heat and chronic water scarcity present formidable challenges to large desert-dwelling mammals. In addition to camels, antelopes within the Hippotraginae and Alcelaphinae subfamilies also exhibit remarkable physiological and genetic specializations for desert survival. Among them, the critically endangered addax ( ) represents the most desert-adapted antelope species. However, the evolutionary and molecular mechanisms underlying desert adaptations remain largely unexplored. Herein, a high-quality genome assembly of the addax was generated to investigate the molecular evolution of desert adaptation in camels and desert antelopes. Comparative genomic analyses identified 136 genes harboring convergent amino acid substitutions implicated in crucial biological processes, including water reabsorption, fat metabolism, and stress response. Notably, a convergent R146S amino acid mutation in the prostaglandin EP2 receptor gene significantly reduced receptor activity, potentially facilitating large-mammal adaptation to arid environments. Lineage-specific innovations were also identified in desert antelopes, including previously uncharacterized conserved non-coding elements. Functional assays revealed that several of these elements exerted significant regulatory effects , suggesting potential roles in adaptive gene expression. Additionally, signals of introgression and variation in genetic load were observed, indicating their possible influence on desert adaptation. These findings provide insights into the sequential evolutionary processes that drive physiological resilience in arid environments and highlight the importance of convergent evolution in shaping adaptive traits in large terrestrial mammals.

摘要

酷热和长期缺水给大型沙漠哺乳动物带来了巨大挑战。除骆驼外,马羚亚科和牛羚亚科的羚羊在生理和基因方面也表现出显著的适应沙漠生存的特性。其中,极度濒危的旋角羚( )是最适应沙漠环境的羚羊物种。然而,沙漠适应背后的进化和分子机制在很大程度上仍未得到探索。在此,我们生成了旋角羚的高质量基因组组装,以研究骆驼和沙漠羚羊沙漠适应的分子进化。比较基因组分析确定了136个具有趋同氨基酸替换的基因,这些替换涉及关键生物过程,包括水重吸收、脂肪代谢和应激反应。值得注意的是,前列腺素EP2受体基因中的趋同R146S氨基酸突变显著降低了受体活性,这可能有助于大型哺乳动物适应干旱环境。在沙漠羚羊中还发现了谱系特异性创新,包括以前未被表征的保守非编码元件。功能分析表明,其中一些元件发挥了显著的调控作用,表明它们在适应性基因表达中可能发挥作用。此外,还观察到基因渗入信号和遗传负荷变化,表明它们可能对沙漠适应产生影响。这些发现为驱动干旱环境中生理适应能力的连续进化过程提供了见解,并突出了趋同进化在塑造大型陆地哺乳动物适应性状中的重要性。

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