1 ENS de Lyon, CNRS UMR 5239, INSERM U1210, LBMC, Univ Lyon, Université Claude Bernard Lyon 1 , F-69007 Lyon , France.
2 CNRS UMR 5558, LBBE, Univ Lyon, Université Claude Bernard Lyon 1 , F-69100 Villeurbanne , France.
Philos Trans R Soc Lond B Biol Sci. 2019 Jul 22;374(1777):20180234. doi: 10.1098/rstb.2018.0234. Epub 2019 Jun 3.
In evolutionary genomics, researchers have taken an interest in identifying substitutions that subtend convergent phenotypic adaptations. This is a difficult question that requires distinguishing foreground convergent substitutions that are involved in the convergent phenotype from background convergent substitutions. Those may be linked to other adaptations, may be neutral or may be the consequence of mutational biases. Furthermore, there is no generally accepted definition of convergent substitutions. Various methods that use different definitions have been proposed in the literature, resulting in different sets of candidate foreground convergent substitutions. In this article, we first describe the processes that can generate foreground convergent substitutions in coding sequences, separating adaptive from non-adaptive processes. Second, we review methods that have been proposed to detect foreground convergent substitutions in coding sequences and expose the assumptions that underlie them. Finally, we examine their power on simulations of convergent changes-including in the presence of a change in the efficacy of selection-and on empirical alignments. This article is part of the theme issue 'Convergent evolution in the genomics era: new insights and directions'.
在进化基因组学中,研究人员一直致力于识别那些促成趋同表型适应的替代。这是一个难题,需要区分那些与趋同表型相关的前景趋同替代,与那些与其他适应相关、中性或由突变偏倚造成的背景趋同替代。此外,目前还没有一个普遍接受的趋同替代定义。文献中已经提出了各种使用不同定义的方法,从而产生了不同的候选前景趋同替代集。在本文中,我们首先描述了在编码序列中产生前景趋同替代的过程,将适应性过程与非适应性过程区分开来。其次,我们综述了已被提议用于检测编码序列中前景趋同替代的方法,并揭示了它们所基于的假设。最后,我们在趋同变化的模拟(包括在选择有效性发生变化的情况下)和实际比对中检验了它们的能力。本文是“基因组时代的趋同进化:新的见解和方向”主题专刊的一部分。