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泛种系中的遗传变异是由种群历史塑造的,并具有谱系特异性功能。

Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions.

机构信息

Institut de Biologia Evolutiva, Consejo Superior de Investigaciones Científicas-Universitat Pompeu Fabra, Barcelona, Spain.

Department of Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.

出版信息

Genome Biol Evol. 2019 Apr 1;11(4):1178-1191. doi: 10.1093/gbe/evz047.

Abstract

Chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the closest living relatives of humans, but the two species show distinct behavioral and physiological differences, particularly regarding female reproduction. Despite their recent rapid decline, the demographic histories of the two species have been different during the past 1-2 Myr, likely having an impact on their genomic diversity. Here, we analyze the inferred functional consequences of genetic variation across 69 individuals, making use of the most complete data set of genomes in the Pan clade to date. We test to which extent the demographic history influences the efficacy of purifying selection in these species. We find that small historical effective population sizes (Ne) correlate not only with low levels of genetic diversity but also with a larger number of deleterious alleles in homozygosity and an increased proportion of deleterious changes at low frequencies. To investigate the putative genetic basis for phenotypic differences between chimpanzees and bonobos, we exploit the catalog of putatively deleterious protein-coding changes in each lineage. We show that bonobo-specific nonsynonymous changes are enriched in genes related to age at menarche in humans, suggesting that the prominent physiological differences in the female reproductive system between chimpanzees and bonobos might be explained, in part, by putatively adaptive changes on the bonobo lineage.

摘要

黑猩猩(Pan troglodytes)和倭黑猩猩(Pan paniscus)是与人类最接近的现存亲属,但这两个物种在行为和生理上表现出明显的差异,特别是在雌性生殖方面。尽管它们在过去的 1-2 百万年内迅速减少,但在过去的 1-2 百万年内,这两个物种的种群历史是不同的,这可能对它们的基因组多样性产生影响。在这里,我们分析了 69 个人类个体的遗传变异的推断功能后果,利用了迄今为止 Pan 分支中最完整的基因组数据集。我们测试了种群历史在多大程度上影响了这些物种中净化选择的效果。我们发现,小的历史有效种群大小(Ne)不仅与低水平的遗传多样性相关,而且与同型合子中更多的有害等位基因和低频有害变化的比例增加相关。为了研究黑猩猩和倭黑猩猩之间表型差异的潜在遗传基础,我们利用每个谱系中推测的有害蛋白编码变化目录。我们表明,在与人类初潮年龄相关的基因中,倭黑猩猩特有的非同义变化富集,这表明黑猩猩和倭黑猩猩之间雌性生殖系统的显著生理差异部分可能是由倭黑猩猩谱系中推测的适应性变化所解释的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20b8/6482415/3ae53ea56e72/evz047f1.jpg

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