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来自显性和超显性突变的有限群体中的近亲繁殖负荷。

Inbreeding load in finite populations from dominant and overdominant mutations.

作者信息

González-Castellano Inés, García-Dorado Aurora, Caballero Armando

机构信息

Centro de Investigación Mariña, Universidade de Vigo, Vigo, Spain.

Universidade da Coruña, A Coruña, Spain.

出版信息

Proc Biol Sci. 2025 Jul;292(2050):20250845. doi: 10.1098/rspb.2025.0845. Epub 2025 Jul 9.

Abstract

Inbreeding depression is a widespread phenomenon that reflects the burden of deleterious effects hidden in heterozygosis in non-inbred populations but exposed in homozygosis in inbred individuals, known as inbreeding load (). This load can be due to partially or fully recessive deleterious mutations (dominance model) or to heterozygote advantage (overdominance model, where both homozygotes are deleterious relative to the heterozygote). There are many studies addressing the changes in inbreeding load in finite populations assuming the dominance model. However, the contribution of overdominance to inbreeding depression has been focused on infinite-size populations. We carried out computer simulations to investigate the joint impact of dominant and pure overdominant mutations on inbreeding load, both for self-fertilizing populations and for panmictic populations suffering from a drastic bottleneck. We found that the overdominant inbreeding load can be substantially reduced by drift even for symmetrical overdominance, at least when considering mutations of small effect. For panmictic bottlenecked populations, the reduction in inbreeding load under dominance and overdominance loci cannot be easily distinguished. However, while purging depletes inbreeding load from dominant loci, slowing inbreeding depression and leading to partial fitness recovery, for overdominant loci fitness declines monotonically.

摘要

近亲繁殖衰退是一种普遍现象,它反映了非近亲繁殖群体中杂合状态下隐藏的有害效应负担,但在近亲繁殖个体的纯合状态下会显现出来,即所谓的近亲繁殖负荷()。这种负荷可能是由于部分或完全隐性的有害突变(显性模型),也可能是由于杂合子优势(超显性模型,即相对于杂合子,两个纯合子都是有害的)。有许多研究探讨了在有限群体中假设显性模型时近亲繁殖负荷的变化。然而,超显性对近亲繁殖衰退的贡献一直集中在无限大小的群体上。我们进行了计算机模拟,以研究显性和纯超显性突变对近亲繁殖负荷的联合影响,这两种情况分别针对自交群体和遭受严重瓶颈效应的随机交配群体。我们发现,即使对于对称超显性,近亲繁殖负荷也会因漂变而大幅降低,至少在考虑小效应突变时是这样。对于经历瓶颈效应的随机交配群体,显性和超显性位点下近亲繁殖负荷的降低不易区分。然而,虽然清除会减少显性位点的近亲繁殖负荷,减缓近亲繁殖衰退并导致部分适合度恢复,但对于超显性位点,适合度会单调下降。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4318/12308527/2a670d910145/rspb.2025.0845.f001.jpg

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