Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Department of Biology, William G. Davis Building, University of Toronto, Mississauga, Canada.
PLoS Genet. 2022 Jun 15;18(6):e1009840. doi: 10.1371/journal.pgen.1009840. eCollection 2022 Jun.
The distribution of fitness effects (DFE) for new mutations is fundamental for many aspects of population and quantitative genetics. In this study, we have inferred the DFE in the single-celled alga Chlamydomonas reinhardtii by estimating changes in the frequencies of 254 spontaneous mutations under experimental evolution and equating the frequency changes of linked mutations with their selection coefficients. We generated seven populations of recombinant haplotypes by crossing seven independently derived mutation accumulation lines carrying an average of 36 mutations in the haploid state to a mutation-free strain of the same genotype. We then allowed the populations to evolve under natural selection in the laboratory by serial transfer in liquid culture. We observed substantial and repeatable changes in the frequencies of many groups of linked mutations, and, surprisingly, as many mutations were observed to increase as decrease in frequency. Mutation frequencies were highly repeatable among replicates, suggesting that selection was the cause of the observed allele frequency changes. We developed a Bayesian Monte Carlo Markov Chain method to infer the DFE. This computes the likelihood of the observed distribution of changes of frequency, and obtains the posterior distribution of the selective effects of individual mutations, while assuming a two-sided gamma distribution of effects. We infer that the DFE is a highly leptokurtic distribution, and that approximately equal proportions of mutations have positive and negative effects on fitness. This result is consistent with what we have observed in previous work on a different C. reinhardtii strain, and suggests that a high fraction of new spontaneously arisen mutations are advantageous in a simple laboratory environment.
新突变的适合度效应(DFE)分布对群体和数量遗传学的许多方面都至关重要。在这项研究中,我们通过估计 254 个自发突变在实验进化下的频率变化,并将连锁突变的频率变化等同于它们的选择系数,从而推断出单细胞藻类莱茵衣藻的 DFE。我们通过将携带平均 36 个突变的七个独立衍生的突变积累系的重组单倍体杂交到相同基因型的无突变株系中,产生了七个重组单倍体群体。然后,我们通过在液体培养中连续传代,让这些群体在实验室中受到自然选择的作用。我们观察到许多连锁突变群体的频率发生了显著且可重复的变化,令人惊讶的是,许多突变的频率下降,而另一些突变的频率上升。突变频率在重复实验中高度可重复,表明选择是观察到的等位基因频率变化的原因。我们开发了一种贝叶斯蒙特卡罗马尔可夫链方法来推断 DFE。该方法计算了观察到的频率变化分布的可能性,并获得了个体突变的选择效应的后验分布,同时假设效应呈双侧伽马分布。我们推断 DFE 是一个高度偏态分布,大约有相同比例的突变对适合度有正向和负向影响。这一结果与我们在不同的莱茵衣藻菌株上的先前工作中观察到的结果一致,表明在简单的实验室环境中,新出现的自发突变中有很大一部分是有利的。