Department of Ecology and Evolutionary Biology, University of California, Los Angeles, California 90095, USA.
Zhejiang Provincial Laboratory of Life Sciences and Biomedicine, Key Laboratory of Structural Biology of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, 310024, China.
Genome Res. 2021 Jan;31(1):110-120. doi: 10.1101/gr.256636.119. Epub 2020 Nov 18.
Quantifying and comparing the amount of adaptive evolution among different species is key to understanding how evolution works. Previous studies have shown differences in adaptive evolution across species; however, their specific causes remain elusive. Here, we use improved modeling of weakly deleterious mutations and the demographic history of the outgroup species and ancestral population and estimate that at least 20% of nonsynonymous substitutions between humans and an outgroup species were fixed by positive selection. This estimate is much higher than previous estimates, which did not correct for the sizes of the outgroup species and ancestral population. Next, we jointly estimate the proportion and selection coefficient ( and , respectively) of newly arising beneficial nonsynonymous mutations in humans, mice, and by examining patterns of polymorphism and divergence. We develop a novel composite likelihood framework to test whether these parameters differ across species. Overall, we reject a model with the same and of beneficial mutations across species and estimate that humans have a higher compared with that of and mice. We show that this result cannot be caused by biased gene conversion or hypermutable CpG sites. We discuss possible biological explanations that could generate the observed differences in the amount of adaptive evolution across species.
量化和比较不同物种之间的适应性进化程度对于理解进化机制至关重要。先前的研究表明,不同物种之间的适应性进化存在差异;然而,其具体原因仍难以捉摸。在这里,我们使用改进的弱有害突变模型和外群物种以及祖先群体的种群历史,估计至少有 20%的人类和外群物种之间的非同义替换是由正选择固定的。这一估计远高于以前的估计,以前的估计没有纠正外群物种和祖先群体的大小。接下来,我们通过检查多态性和分歧模式,共同估计人类、小鼠和 中新出现的有益非同义突变的比例( 和 )和选择系数。我们开发了一种新的复合似然框架来检验这些参数是否在不同物种之间存在差异。总体而言,我们拒绝了一个假设所有物种具有相同有益突变的 和 的模型,并估计人类的 高于 和小鼠。我们表明,这一结果不能归因于偏倚基因转换或易突变的 CpG 位点。我们讨论了可能产生不同物种之间适应性进化程度差异的生物学解释。