Cressy M, Valente D, Altick A, Kockenmeister E, Honegger K, Qin H, Mitra P P, Dubnau J
Cold Spring Harbor Laboratory, Cold Spring Harbor; Graduate Program in Genetics, State University of NY at Stony Brook, Stony Brook, NY.
Genes Brain Behav. 2014 Jul;13(6):565-77. doi: 10.1111/gbb.12146. Epub 2014 Jun 19.
Gene interactions are acknowledged to be a likely source of missing heritability in large-scale genetic studies of complex neurological phenotypes. However, involvement of rare variants, de novo mutations, genetic lesions that are not easily detected with commonly used methods and epigenetic factors also are possible explanations. We used a laboratory evolution study to investigate the modulatory effects of background genetic variation on the phenotypic effect size of a null mutation with known impact on olfactory learning. To accomplish this, we first established a population that contained variation at just 23 loci and used selection to evolve suppression of the learning defect seen with null mutations in the rutabaga adenylyl cyclase. We thus biased the system to favor relatively simplified outcomes by choosing a Mendelian trait and by restricting the genetic variation segregating in the population. This experimental design also assures that the causal effects are among the known 23 segregating loci. We observe a robust response to selection that requires the presence of the 23 variants. Analyses of the underlying genotypes showed that interactions between more than two loci are likely to be involved in explaining the selection response, with implications for the missing heritability problem.
基因相互作用被认为是复杂神经表型大规模遗传研究中缺失遗传力的一个可能来源。然而,罕见变异、新发突变、常用方法难以检测到的遗传损伤以及表观遗传因素的参与也可能是原因。我们进行了一项实验室进化研究,以调查背景遗传变异对已知影响嗅觉学习的无效突变表型效应大小的调节作用。为了实现这一点,我们首先建立了一个仅在23个位点存在变异的群体,并通过选择来进化对rutabaga腺苷酸环化酶无效突变所导致的学习缺陷的抑制作用。因此,我们通过选择孟德尔性状并限制群体中分离的遗传变异,使系统偏向于产生相对简化的结果。这种实验设计还确保了因果效应存在于已知的23个分离位点之中。我们观察到对选择有强烈反应,而这需要23个变异的存在。对潜在基因型的分析表明,可能涉及两个以上位点之间的相互作用来解释选择反应,这对缺失遗传力问题具有启示意义。