Macdonald Arlie R, James Maddie E, Mitchell Jonathan D, Holland Barbara R
School of Natural Sciences, University of Tasmania, Hobart, TS, Australia.
Australian Research Council Centre of Excellence for Plant Success in Nature and Agriculture, University of Tasmania, Sandy Bay, TS, Australia.
Genome Biol Evol. 2025 Sep 2;17(9). doi: 10.1093/gbe/evaf150.
Mapping genotypes to phenotypes is a fundamental goal in biology. Phylogenetic Genotype to Phenotype mapping methods are a relatively new set of tools that aim to identify genomic regions associated with trait variation between species. Here, we review recent developments in Phylogenetic Genotype to Phenotype mapping methods, focusing on three key areas: methods based on replicated substitutions at individual amino acid sites; methods detecting changes in evolutionary rates; and methods analyzing gene duplication and loss. We discuss how trait definition and measurement can impact these methods, as well as the genetic mechanisms that can give rise to trait variation between lineages. We examine the strengths and limitations of different approaches, highlighting the importance of explicit modeling of evolutionary processes. Finally, we outline promising future directions, including the integration of within-species variation, as well as epigenetic and environmental information. Since no single method is likely to identify all genomic regions of interest, we encourage users to apply a representative range of methods that are capable of detecting different types of associations. Overall, this review provides practitioners a roadmap for understanding and applying Phylogenetic Genotype to Phenotype mapping approaches.
将基因型映射到表型是生物学的一个基本目标。系统发育基因型到表型的映射方法是一组相对较新的工具,旨在识别与物种间性状变异相关的基因组区域。在这里,我们回顾了系统发育基因型到表型映射方法的最新进展,重点关注三个关键领域:基于单个氨基酸位点重复替换的方法;检测进化速率变化的方法;以及分析基因复制和丢失的方法。我们讨论了性状定义和测量如何影响这些方法,以及可能导致谱系间性状变异的遗传机制。我们研究了不同方法的优点和局限性,强调了对进化过程进行明确建模的重要性。最后,我们概述了有前景的未来方向,包括种内变异以及表观遗传和环境信息的整合。由于没有单一方法可能识别所有感兴趣的基因组区域,我们鼓励用户应用一系列能够检测不同类型关联的代表性方法。总体而言,本综述为从业者提供了一个理解和应用系统发育基因型到表型映射方法的路线图。