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瓶颈期功能基因组多样性的演变

Evolution of Functional Genomic Diversity During a Bottleneck.

作者信息

Schlichta Flávia, Peischl Stephan, Excoffier Laurent

机构信息

Computational and Molecular Population Genetics (CMPG), Institute of Ecology and Evolution (IEE), University of Bern, Bern 3012, Switzerland.

Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.

出版信息

Genome Biol Evol. 2025 May 30;17(6). doi: 10.1093/gbe/evaf107.

DOI:10.1093/gbe/evaf107
PMID:40468974
Abstract

Most species have been through population bottlenecks and range expansions, and the impact of these events on patterns of diversity has been well studied. In particular, it has been shown that initially rare neutral variants could readily fix on the front of range expansions or during bottlenecks, giving genomic signatures looking like selective sweeps. Here we expand on previous work by considering the dynamics of genomic diversity in (functional) regions harboring deleterious variants during bottlenecks or during range expansions modeled as serial founder effects. We find that regions with very low levels of diversity (troughs) looking like selective sweeps can also readily form in these functional regions. Additionally, their properties depend on the dominance level of deleterious mutations. The number of troughs is larger and increases more rapidly in regions with co-dominant deleterious mutations than in regions with recessive mutations. Interestingly, we find that genetic diversity declines less rapidly in regions with partially recessive mutations than in regions with codominant ones or in regions with only neutral mutations. These features are generally enhanced in low recombination regions and for intermediate selection coefficients. If most deleterious mutations in a genome are partially recessive, it follows that functional low recombination regions should better preserve genetic diversity during range expansions than neutral regions of the genome.

摘要

大多数物种都经历过种群瓶颈和范围扩张,并且这些事件对多样性模式的影响已经得到了充分研究。特别是,已经表明最初罕见的中性变异在范围扩张前沿或瓶颈期间很容易固定下来,从而产生看起来像选择性清除的基因组特征。在这里,我们通过考虑在瓶颈期间或建模为连续奠基者效应的范围扩张期间,含有有害变异的(功能)区域中的基因组多样性动态,对先前的工作进行扩展。我们发现,看起来像选择性清除的极低多样性水平(低谷)区域也可以在这些功能区域中很容易地形成。此外,它们的特性取决于有害突变的显性水平。与隐性突变区域相比,共显性有害突变区域的低谷数量更多且增加得更快。有趣的是,我们发现部分隐性突变区域的遗传多样性下降速度比共显性突变区域或仅含中性突变区域更慢。这些特征在低重组区域和中等选择系数下通常会增强。如果基因组中的大多数有害突变是部分隐性的,那么在范围扩张期间,功能性低重组区域应该比基因组的中性区域更好地保存遗传多样性。

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本文引用的文献

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Constraining models of dominance for nonsynonymous mutations in the human genome.限制人类基因组中非同义突变的显性模型
PLoS Genet. 2024 Sep 20;20(9):e1011198. doi: 10.1371/journal.pgen.1011198. eCollection 2024 Sep.
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