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估计指猴的适合度效应分布,同时考虑种群历史以及突变和重组率的异质性。

Estimating the distribution of fitness effects in aye-ayes ( ), accounting for population history as well as mutation and recombination rate heterogeneity.

作者信息

Soni Vivak, Versoza Cyril J, Pfeifer Susanne P, Jensen Jeffrey D

出版信息

bioRxiv. 2025 Jan 3:2025.01.02.631144. doi: 10.1101/2025.01.02.631144.

Abstract

The distribution of fitness effects (DFE) characterizes the range of selection coefficients from which new mutations are sampled, and thus holds a fundamentally important role in evolutionary genomics. To date, DFE inference in primates has been largely restricted to haplorrhines, with limited data availability leaving the other suborder of primates, strepsirrhines, largely under-explored. To advance our understanding of the population genetics of this important taxonomic group, we here map exonic divergence in aye-ayes ( ) - the only extant member of the Daubentoniidae family of the Strepsirrhini suborder. We further infer the DFE in this highly-endangered species, utilizing a recently published high-quality annotated reference genome, a well-supported model of demographic history, as well as both direct and indirect estimates of underlying mutation and recombination rates. The inferred distribution is generally characterized by a greater proportion of deleterious mutations relative to humans, providing evidence of a larger long-term effective population size. In addition however, both immune-related and sensory-related genes were found to be amongst the most rapidly evolving in the aye-aye genome.

摘要

适应度效应分布(DFE)描述了新突变从中抽样的选择系数范围,因此在进化基因组学中起着根本性的重要作用。迄今为止,灵长类动物的DFE推断主要局限于类人猿亚目,有限的数据可用性使得灵长类动物的另一个亚目——原猴亚目——在很大程度上未得到充分探索。为了增进我们对这个重要分类群群体遗传学的理解,我们在此绘制指猴(狐猴科唯一现存成员)的外显子差异图谱。我们进一步推断这个极度濒危物种的DFE,利用最近发表的高质量注释参考基因组、一个得到充分支持的种群历史模型,以及潜在突变和重组率的直接和间接估计。推断出的分布通常以相对于人类而言有害突变比例更高为特征,这为更大的长期有效种群规模提供了证据。然而,此外还发现免疫相关基因和感官相关基因是指猴基因组中进化最快的基因之一。

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