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Dissecting the Effects of Selection and Mutation on Genetic Diversity in Three Wood White (Leptidea) Butterfly Species

机译:剖析选择和突变对三种木白(ept)蝴蝶种遗传多样性的影响

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摘要

The relative role of natural selection and genetic drift in evolution is a major topic of debate in evolutionary biology. Most knowledge spring from a small group of organisms and originate from before it was possible to generate genome-wide data on genetic variation. Hence, it is necessary to extend to a larger number of taxonomic groups, descriptive and hypothesis-based research aiming at understanding the proximate and ultimate mechanisms underlying both levels of genetic polymorphism and the efficiency of natural selection. In this study, we used data from 60 whole-genome resequenced individuals of three cryptic butterfly species (Leptidea sp.), together with novel gene annotation information and population recombination data. We characterized the overall prevalence of natural selection and investigated the effects of mutation and linked selection on regional variation in nucleotide diversity. Our analyses showed that genome-wide diversity and rate of adaptive substitutions were comparatively low, whereas nonsynonymous to synonymous polymorphism and substitution levels were comparatively high in Leptidea, suggesting small long-term effective population sizes. Still, negative selection on linked sites (background selection) has resulted in reduced nucleotide diversity in regions with relatively high gene density and low recombination rate. We also found a significant effect of mutation rate variation on levels of polymorphism. Finally, there were considerable population differences in levels of genetic diversity and pervasiveness of selection against slightly deleterious alleles, in line with expectations from differences in estimated effective population sizes.
机译:自然选择和遗传漂移在进化中的相对作用是进化生物学争论的一个主要话题。大多数知识来自一小群生物,起源于可能产生全基因组遗传变异数据之前。因此,有必要扩展到更多的分类学组,以描述性和假设为基础的研究,旨在了解遗传多态性水平和自然选择效率的最接近和最终机制。在这项研究中,我们使用了来自三种隐性蝴蝶物种(Leptidea sp。)的60个全基因组重测序个体的数据,以及新颖的基因注释信息和种群重组数据。我们表征了自然选择的总体普遍性,并研究了突变和连锁选择对核苷酸多样性区域变异的影响。我们的分析表明,在Leptidea中,全基因组多样性和适应性替代率较低,而同义多态性和替代水平的非同义词相对较高,这表明长期有效种群较小。尽管如此,对连锁位点的负选择(背景选择)导致基因密度相对较高且重组率较低的区域核苷酸多样性降低。我们还发现突变率变异对多态性水平的显着影响。最后,与估计的有效种群数量的差异所期望的一致,在遗传多样性水平和针对轻微有害等位基因的选择普遍性方面存在很大的种群差异。

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