Genetics, Genomics, and Bioinformatics Graduate Program, University of California, Riverside, CA 92521, USA.
Department of Evolution, Ecology, and Organismal Biology, University of California, Riverside, CA 92521, USA.
Genetics. 2023 Jan 12;223(1). doi: 10.1093/genetics/iyac165.
Replicate lines under uniform selection often evolve in different ways. Previously, analyses using whole-genome sequence data for individual mice (Mus musculus) from 4 replicate High Runner lines and 4 nonselected control lines demonstrated genomic regions that have responded consistently to selection for voluntary wheel-running behavior. Here, we ask whether the High Runner lines have evolved differently from each other, even though they reached selection limits at similar levels. We focus on 1 High Runner line (HR3) that became fixed for a mutation at a gene of major effect (Myh4Minimsc) that, in the homozygous condition, causes a 50% reduction in hindlimb muscle mass and many pleiotropic effects. We excluded HR3 from SNP analyses and identified 19 regions not consistently identified in analyses with all 4 lines. Repeating analyses while dropping each of the other High Runner lines identified 12, 8, and 6 such regions. (Of these 45 regions, 37 were unique.) These results suggest that each High Runner line indeed responded to selection somewhat uniquely, but also that HR3 is the most distinct. We then applied 2 additional analytical approaches when dropping HR3 only (based on haplotypes and nonstatistical tests involving fixation patterns). All 3 approaches identified 7 new regions (as compared with analyses using all 4 High Runner lines) that include genes associated with activity levels, dopamine signaling, hippocampus morphology, heart size, and body size, all of which differ between High Runner and control lines. Our results illustrate how multiple solutions and "private" alleles can obscure general signatures of selection involving "public" alleles.
在均匀选择下复制的品系常常以不同的方式进化。此前,使用来自 4 个复制高跑者系和 4 个非选择对照系的个体小鼠(Mus musculus)的全基因组序列数据进行的分析表明,基因组区域对选择自愿轮跑行为有一致的反应。在这里,我们想知道尽管高跑者系都达到了相似的选择极限,但它们是否彼此之间进化得不同。我们专注于 1 个高跑者系(HR3),它在一个主要效应基因(Myh4Minimsc)上发生了突变而被固定,在纯合状态下,该基因导致后肢肌肉质量减少 50%,并产生许多多效性效应。我们排除了 HR3 的 SNP 分析,并鉴定出 19 个在与所有 4 个系进行的分析中没有一致鉴定的区域。在排除其他 3 个高跑者系的情况下重复分析,鉴定出 12、8 和 6 个这样的区域。(在这 45 个区域中,有 37 个是独特的。)这些结果表明,每个高跑者系确实以某种独特的方式对选择做出了反应,但 HR3 是最独特的。然后,当仅排除 HR3 时,我们应用了另外 2 种分析方法(基于单倍型和涉及固定模式的非统计测试)。当排除 HR3 时,所有 3 种方法都鉴定出了 7 个新的区域(与使用所有 4 个高跑者系的分析相比),其中包括与活动水平、多巴胺信号、海马体形态、心脏大小和体型相关的基因,这些基因在高跑者和对照系之间都有所不同。我们的结果说明了多种解决方案和“私有”等位基因如何掩盖涉及“公共”等位基因的选择的一般特征。