Olito Colin, Connallon Tim
Department of Biological Sciences, Lund University, Lund 223 62, Skåne, Sweden.
School of Biological Sciences, Monash University, 25 Rainforest Walk, Clayton, Victoria 3800, Australia.
Genetics. 2025 Sep 3;231(1). doi: 10.1093/genetics/iyaf128.
Balancing selection is a potentially important factor in the maintenance of genetic variation for fitness and, alongside recessive deleterious mutations, the genetic basis of inbreeding depression. Classic population genetics theory predicts that inbreeding restricts the range of conditions leading to balancing selection. For example, in models of heterozygote advantage, the classic theory shows that inbreeding reduces the parameter conditions for balancing selection by a factor of 1-F, where F is Wright's inbreeding coefficient. However, without a model for the distribution of fitness effects of mutations or genotypes, this classic theory tells us little about the actual probability that new or segregating mutations meet criteria for balancing selection. Here, we develop an extension of Fisher's geometric model with which we explore how inbreeding affects the probability of balancing selection due to heterozygote advantage and its contribution to genetic variance for fitness. When taking the distribution of fitness effects among new, adaptive, and established mutations into account, we find that the prevalence of balancing selection is consistently, and often substantially, below the 1-F baseline implied by classic theory provided that most mutations have phenotypic effects that are small. The reduction is consistently greater for established mutations relative to adaptive mutations, which reinforces the idea that balanced genetic polymorphisms are far more likely to occur in outbred than inbred species. We discuss the implications of our results for studies of genetic variation for fitness and genome scans for signals of balancing selection.
平衡选择是维持适合度遗传变异的一个潜在重要因素,并且与隐性有害突变一起,是近亲繁殖衰退的遗传基础。经典群体遗传学理论预测,近亲繁殖会限制导致平衡选择的条件范围。例如,在杂合子优势模型中,经典理论表明,近亲繁殖会使平衡选择的参数条件降低1-F倍,其中F是赖特近交系数。然而,由于缺乏一个关于突变或基因型适合度效应分布的模型,这个经典理论几乎没有告诉我们新突变或分离突变符合平衡选择标准的实际概率。在这里,我们扩展了费希尔几何模型,用以探究近亲繁殖如何影响由于杂合子优势导致的平衡选择概率及其对适合度遗传方差的贡献。当考虑新突变、适应性突变和已固定突变之间的适合度效应分布时,我们发现,只要大多数突变的表型效应较小,平衡选择的发生率就始终且常常显著低于经典理论所暗示的1-F基线。相对于适应性突变,已固定突变的减少幅度始终更大,这强化了一个观点,即平衡遗传多态性在远交物种中比在近交物种中更有可能出现。我们讨论了我们的结果对适合度遗传变异研究以及平衡选择信号基因组扫描的意义。