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利用拟合良好的进化基线模型,对指猴(Daubentonia madagascariensis)进行全基因组扫描,以寻找正向选择和平衡选择的证据。

A whole-genome scan for evidence of positive and balancing selection in aye-ayes (Daubentonia madagascariensis) utilizing a well-fit evolutionary baseline model.

作者信息

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

机构信息

Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, 85281, USA.

出版信息

G3 (Bethesda). 2025 Apr 10. doi: 10.1093/g3journal/jkaf078.

DOI:10.1093/g3journal/jkaf078
PMID:40208178
Abstract

The aye-aye (Daubentonia madagascariensis) is one of the 25 most endangered primate species in the world, maintaining amongst the lowest genetic diversity of any primate measured to date. Characterizing patterns of genetic variation within aye-aye populations, and the relative influences of neutral and selective processes in shaping that variation, is thus important for future conservation efforts. In this study, we performed the first whole-genome scans for positive and balancing selection in the species, utilizing high-coverage population genomic data from newly sequenced individuals. We generated null thresholds for our genomic scans by creating an evolutionarily appropriate baseline model that incorporates the demographic history of this aye-aye population, and identified a small number of candidate genes. Most notably, a suite of genes involved in olfaction-a key trait in these nocturnal primates-were identified as experiencing long-term balancing selection. We also conducted analyses to quantify the expected statistical power to detect positive and balancing selection in this population using site frequency spectrum-based inference methods, once accounting for the potentially confounding contributions of population history, mutation and recombination rate variation, as well as purifying and background selection. This work, presenting the first high-quality, genome-wide polymorphism data across the functional regions of the aye-aye genome, thus provides important insights into the landscape of episodic selective forces in this highly endangered species.

摘要

指猴(Daubentonia madagascariensis)是世界上25种最濒危的灵长类物种之一,其遗传多样性是迄今为止所测量的所有灵长类中最低的。因此,了解指猴种群内的遗传变异模式,以及中性和选择过程在塑造这种变异中的相对影响,对于未来的保护工作至关重要。在本研究中,我们利用新测序个体的高覆盖度群体基因组数据,对该物种进行了首次全基因组的正选择和平衡选择扫描。我们通过创建一个结合了该指猴种群历史的进化上合适的基线模型,为我们的基因组扫描生成了零假设阈值,并鉴定出了少数候选基因。最值得注意的是,一组与嗅觉相关的基因——这些夜行性灵长类动物的一个关键特征——被确定经历了长期的平衡选择。我们还进行了分析,以量化使用基于位点频率谱的推断方法在该种群中检测正选择和平衡选择的预期统计功效,同时考虑到种群历史、突变和重组率变异以及纯化和背景选择的潜在混杂影响。这项工作展示了指猴基因组功能区域首个高质量的全基因组多态性数据,从而为这个极度濒危物种的间歇性选择力量格局提供了重要见解。

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Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye (Daubentonia madagascariensis).
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