Department of Genetics and Evolutionary Biology, University of Sao Paulo, Sao Paulo (SP), Brazil.
Mol Biol Evol. 2022 Oct 7;39(10). doi: 10.1093/molbev/msac211.
Our understanding of the genetic architecture of phenotypic traits has experienced drastic growth over the last years. Nevertheless, the majority of studies associating genotypes and phenotypes have been conducted at the ontogenetic level. Thus, we still have an elusive knowledge of how these genetic-developmental architectures evolve themselves and how their evolution is mirrored in the phenotypic change across evolutionary time. We tackle this gap by reconstructing the evolution of male genital size, one of the most complex traits in insects, together with its underlying genetic architecture. Using the order Hemiptera as a model, spanning over 350 million years of evolution, we estimate the correlation between genitalia and three features: development rate, body size, and rates of DNA substitution in 68 genes associated with genital development. We demonstrate that genital size macro-evolution has been largely dependent on body size and weakly influenced by development rate and phylogenetic history. We further revealed significant correlations between mutation rates and genital size for 19 genes. Interestingly, these genes have diverse functions and participate in distinct signaling pathways, suggesting that genital size is a complex trait whose fast evolution has been enabled by molecular changes associated with diverse morphogenetic processes. Our data further demonstrate that the majority of DNA evolution correlated with the genitalia has been shaped by negative selection or neutral evolution. Thus, in terms of sequence evolution, changes in genital size are predominantly facilitated by relaxation of constraints rather than positive selection, possibly due to the high pleiotropic nature of the morphogenetic genes.
近年来,我们对表型特征的遗传结构的理解有了突飞猛进的发展。然而,大多数将基因型与表型相关联的研究都是在个体发育水平上进行的。因此,我们仍然难以了解这些遗传-发育结构是如何演变的,以及它们的进化如何反映在进化过程中表型的变化。为了弥补这一空白,我们通过重建昆虫中最复杂的特征之一——雄性生殖器大小的进化,以及其潜在的遗传结构,来解决这一问题。我们以Hemiptera 目昆虫为模型,跨越了 3.5 亿年的进化历史,估计了生殖器与三个特征之间的相关性:发育速度、体型和与生殖器发育相关的 68 个基因的 DNA 替换率。我们证明,生殖器大小的宏观进化在很大程度上取决于体型,而与发育速度和系统发育历史的关系较弱。我们还发现了 19 个与生殖器大小相关的基因之间存在显著的相关性。有趣的是,这些基因具有不同的功能,参与了不同的信号通路,这表明生殖器大小是一个复杂的特征,其快速进化是由与多种形态发生过程相关的分子变化所驱动的。我们的数据进一步表明,与生殖器相关的大部分 DNA 进化都受到了负选择或中性进化的影响。因此,从序列进化的角度来看,生殖器大小的变化主要是由约束的放松而不是正选择来促进的,这可能是由于形态发生基因的高度多效性。