Polster Robert, Petropoulos Christos J, Bonhoeffer Sebastian, Guillaume Frédéric
ETH Zürich, Institute of Integrative Biology, Universitätsstr. 16, Zürich, Switzerland.
Monogram Biosciences, South San Francisco, CA.
Mol Biol Evol. 2016 Dec;33(12):3213-3225. doi: 10.1093/molbev/msw206. Epub 2016 Sep 27.
The genotype-phenotype (GP) map is a central concept in evolutionary biology as it describes the mapping of molecular genetic variation onto phenotypic trait variation. Our understanding of that mapping remains partial, especially when trying to link functional clustering of pleiotropic gene effects with patterns of phenotypic trait co-variation. Only on rare occasions have studies been able to fully explore that link and tend to show poor correspondence between modular structures within the GP map and among phenotypes. By dissecting the structure of the GP map of the replicative capacity of HIV-1 in 15 drug environments, we provide a detailed view of that mapping from mutational pleiotropic variation to phenotypic co-variation, including epistatic effects of a set of amino-acid substitutions in the reverse transcriptase and protease genes. We show that epistasis increases the pleiotropic degree of single mutations and provides modularity to the GP map of drug resistance in HIV-1. Moreover, modules of epistatic pleiotropic effects within the GP map match the phenotypic modules of correlated replicative capacity among drug classes. Epistasis thus increases the evolvability of cross-resistance in HIV by providing more drug- and class-specific pleiotropic profiles to the main effects of the mutations. We discuss the implications for the evolution of cross-resistance in HIV.
基因型-表型(GP)图谱是进化生物学中的一个核心概念,因为它描述了分子遗传变异到表型性状变异的映射。我们对这种映射的理解仍然不完整,尤其是在试图将多效基因效应的功能聚类与表型性状共变模式联系起来的时候。只有在极少数情况下,研究才能充分探索这种联系,而且往往显示出GP图谱中的模块结构与表型之间的对应性较差。通过剖析HIV-1在15种药物环境中的复制能力的GP图谱结构,我们提供了从突变多效性变异到表型共变的详细映射视图,包括逆转录酶和蛋白酶基因中一组氨基酸替代的上位效应。我们表明,上位性增加了单个突变的多效程度,并为HIV-1耐药性的GP图谱提供了模块性。此外,GP图谱中上位多效效应的模块与药物类别之间相关复制能力的表型模块相匹配。因此,上位性通过为突变的主要效应提供更多药物和类别特异性的多效性概况,增加了HIV交叉耐药性的进化潜力。我们讨论了对HIV交叉耐药性进化的影响。