Program in Ecology, Evolutionary Biology and Behavior, Michigan State University, East Lansing, MI, USA.
PLoS Genet. 2013;9(8):e1003661. doi: 10.1371/journal.pgen.1003661. Epub 2013 Aug 1.
The phenotypic outcome of a mutation cannot be simply mapped onto the underlying DNA variant. Instead, the phenotype is a function of the allele, the genetic background in which it occurs and the environment where the mutational effects are expressed. While the influence of genetic background on the expressivity of individual mutations is recognized, its consequences on the interactions between genes, or the genetic network they form, is largely unknown. The description of genetic networks is essential for much of biology; yet if, and how, the topologies of such networks are influenced by background is unknown. Furthermore, a comprehensive examination of the background dependent nature of genetic interactions may lead to identification of novel modifiers of biological processes. Previous work in Drosophila melanogaster demonstrated that wild-type genetic background influences the effects of an allele of scalloped (sd), with respect to both its principal consequence on wing development and its interactions with a mutation in optomotor blind. In this study we address whether the background dependence of mutational interactions is a general property of genetic systems by performing a genome wide dominant modifier screen of the sd(E3) allele in two wild-type genetic backgrounds using molecularly defined deletions. We demonstrate that ~74% of all modifiers of the sd(E3) phenotype are background-dependent due in part to differential sensitivity to genetic perturbation. These background dependent interactions include some with qualitative differences in the phenotypic outcome, as well as instances of sign epistasis. This suggests that genetic interactions are often contingent on genetic background, with flexibility in genetic networks due to segregating variation in populations. Such background dependent effects can substantially alter conclusions about how genes influence biological processes, the potential for genetic screens in alternative wild-type backgrounds identifying new loci that contribute to trait expression, and the inferences of the topology of genetic networks.
突变的表型结果不能简单地映射到潜在的 DNA 变体上。相反,表型是等位基因、发生遗传背景和表达突变效应的环境的函数。虽然遗传背景对个体突变表达的影响已得到认可,但它对基因之间相互作用或它们形成的遗传网络的影响在很大程度上仍是未知的。遗传网络的描述对于生物学的许多方面都是必不可少的;然而,如果以及如何,这种网络的拓扑结构受到背景的影响是未知的。此外,全面检查遗传相互作用的背景依赖性可能会导致发现生物过程的新修饰因子。先前在黑腹果蝇中的研究表明,野生型遗传背景会影响 scalloped(sd)等位基因的影响,无论是对翅膀发育的主要影响,还是与 optomotor blind 中的突变的相互作用。在这项研究中,我们通过在两个野生型遗传背景下使用分子定义的缺失,对 sd(E3)等位基因进行全基因组显性修饰剂筛选,以确定突变相互作用的背景依赖性是否是遗传系统的一般特性。我们证明,由于部分原因是对遗传扰动的敏感性不同,sd(E3)表型的约 74%的修饰因子都是背景依赖性的。这些背景依赖性相互作用包括一些表型结果的定性差异,以及符号上位性的实例。这表明遗传相互作用通常取决于遗传背景,由于群体中分离的变异,遗传网络具有灵活性。这种背景依赖的效应可以极大地改变关于基因如何影响生物过程的结论,在替代野生型背景下进行遗传筛选以确定有助于表型表达的新基因座的潜力,以及遗传网络拓扑结构的推断。