高寒低氧极端环境下金丝猴的适应性进化研究

The adaptive study is an important part of adaptive evolution, and the elucidation of its molecular mechanism will contribute to understand its evolutionary history. The snub-nosed monkey, especially Yunnan snub-nosed monkey, is the non-human primate with the highest altitudinal distribution, who lives in extreme environment of arctic-alpine and hypoxemia all the year round. There are some adaptive ecological and behavioral characters for snub-nosed monkey to adapt this kind of extreme environment, but its adaptive molecular mechanism under extreme environment is not clarified till now. Based on the known many candidate genes related to arctic-alpine and hypoxemia, this project will first obtain many genes sequences and SNP loci related to arctic-alpine and hypoxemia from different populations of Sichuan and Yunnan snub-nosed monkey under different altitudinal environment and Guizhou, Tokin and Burmese snub-nosed monkeys through sequence targeted capture and new high-throughput sequencing technologies. Then we will detect the regions with selection signal from these genes, and find some key genes and regions under selection pressure in extreme environment of arctic-alpine and hypoxemia according to the analyses of population genetic structure and evolutionary history so as to discuss the adaptive mechanism of Sichuan and Yunnan snub-nosed monkey. Finally, we will try to elucidate the molecular mechanism of adaption in extreme environment of arctic-alpine and hypoxemia through study on these genes and regions for all species within Rhinopithecus genus.

极端环境下适应性研究已成为适应性进化领域的重要内容，而其分子机制的阐明将有助于揭示物种演化历史。金丝猴特别是滇金丝猴是目前生活海拔最高的非人灵长类，长年生活在高寒低氧的极端环境下。尽管在生态、行为等方面金丝猴产生了相应适应特征，然而有关其适应这种极端环境的遗传学机制目前仍不甚了解。本项目以川、滇金丝猴不同海拔和环境下的种群以及黔、东京和缅甸金丝猴为主要研究对象，以已知与高寒低氧等极端环境相适应的候选基因为基础，应用定向捕获和新一代高通量测序技术，获取金丝猴基因组中大量与低温低氧适应相关基因的序列和SNP位点，通过种群遗传特征和历史动态的分析，检测这些基因中具有受选择信号的区域，找寻受到高寒低氧极端环境下选择压力作用的关键基因和区域，探讨不同海拔和环境下的川、滇金丝猴适应机制，并以此为基础对金丝猴所有物种中这些基因和区域开展深入研究，以期揭示金丝猴适应高寒低氧极端环境的分子机制。

极端环境下的适应性研究已经成为适应性进化领域的重要内容，而其分子机制的阐明将有助于揭示物种演化历史。金丝猴尤其是滇金丝猴是目前生活海拔最高的非人灵长类，长期生活在高寒低氧的极端环境下。尽管在生态、行为等方面金丝猴产生了相应适应特征，然而有关适应这种极端环境的遗传学机制目前仍不甚了解。本项目应用新一代高通量测序技术，对川金丝猴进行全基因组测序，并对金丝猴属四个物种共计38个个体进行种群重测序，获得了大量与低温低氧适应相关的 的序列和SNP位点。通过将获取的滇金丝猴基因组数据与其他研究获取的高寒低氧候选基因进行分析，结果表明在藏族人研究中与高原适应机制显著相关的两个基因 (EPAS1 和 EGLN1) 在滇金丝猴与其他金丝猴物种中并未检测到正选择信号和特有氨基酸变异，这可能暗示了滇金丝猴属在高原适应方面可能有较为特殊的遗传和调控机制。随后通过对金丝猴属重测序的数据进行分析，我们在分布海拔最高滇金丝猴中共发现了19个基因受到正选择。这些基因中部分基因已被证实在藏鸡等高原生物的高寒低氧适应中发挥了重要作用，这说明滇金丝猴和其他高原生物可能采取了相同的适应机制。