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突变的适合度效应:对拟南芥中基因冗余性的测试

Fitness effects of mutation: testing genetic redundancy in Arabidopsis thaliana.

作者信息

Rutter M T, Wieckowski Y M, Murren C J, Strand A E

机构信息

Department of Biology, College of Charleston, Charleston, SC, USA.

出版信息

J Evol Biol. 2017 Jun;30(6):1124-1135. doi: 10.1111/jeb.13081. Epub 2017 May 2.

DOI:10.1111/jeb.13081
PMID:28387971
Abstract

Screens of organisms with disruptive mutations in a single gene often fail to detect phenotypic consequences for the majority of mutants. One explanation for this phenomenon is that the presence of paralogous loci provides genetic redundancy. However, it is also possible that the assayed traits are affected by few loci, that effects could be subtle or that phenotypic effects are restricted to certain environments. We assayed a set of T-DNA insertion mutant lines of Arabidopsis thaliana to determine the frequency with which mutation affected fitness-related phenotypes. We found that between 8% and 42% of the assayed lines had altered fitness from the wild type. Furthermore, many of these lines exhibited fitness greater than the wild type. In a second experiment, we grew a subset of the lines in multiple environments and found whether a T-DNA insert increased or decreased fitness traits depended on the assay environment. Overall, our evidence contradicts the hypothesis that genetic redundancy is a common phenomenon in A. thaliana for fitness traits. Evidence for redundancy from prior screens of knockout mutants may often be an artefact of the design of the phenotypic assays which have focused on less complex phenotypes than fitness and have used single environments. Finally, our study adds to evidence that beneficial mutations may represent a significant component of the mutational spectrum of A. thaliana.

摘要

对具有单个基因破坏性突变的生物体进行筛选时,往往无法检测到大多数突变体的表型后果。这种现象的一种解释是旁系同源基因座的存在提供了遗传冗余。然而,也有可能被测性状受少数基因座影响,这些影响可能很微妙,或者表型效应仅限于特定环境。我们检测了一组拟南芥T-DNA插入突变体系,以确定突变影响与适应性相关表型的频率。我们发现,在被测株系中,8%至42%的株系与野生型相比适应性发生了改变。此外,其中许多株系的适应性高于野生型。在第二个实验中,我们在多种环境中种植了部分株系,发现T-DNA插入是增加还是降低适应性性状取决于检测环境。总体而言,我们的证据与遗传冗余是拟南芥适应性性状常见现象这一假设相矛盾。先前对敲除突变体进行筛选得出的冗余证据,可能常常是表型检测设计的人为结果,这些检测关注的是比适应性更简单的表型,且使用的是单一环境。最后,我们的研究进一步证明有益突变可能是拟南芥突变谱的重要组成部分。

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