Causes and consequences of genetic background effects illuminated by integrative genomic analysis

The phenotypic consequences of individual mutations are modulated by the wild-type genetic background in which they occur. Although such background dependence is widely observed, we do not know whether general patterns across species and traits exist, nor about the mechanisms underlying it. We also lack knowledge on how mutations interact with genetic background to influence gene expression, and how this in turn mediates mutant phenotypes. Furthermore, how genetic background influences patterns of epistasis remains unclear. To investigate the genetic basis and genomic consequences of genetic background dependence of the scallopedE3 allele on the Drosophila melanogaster wing, we generated multiple novel genome-level datasets from a mapping-by-introgression experiment and a tagged RNA gene expression dataset. In addition we used whole genome re-sequencing of the parental lines—two commonly used laboratory strains—to predict polymorphic transcription factor binding sites for SD. We integra...

单个突变的表型效应会受到其所在野生型遗传背景的调控。尽管这种背景依赖性已被广泛观测到，但我们尚不清楚跨物种与跨性状是否存在通用规律，也不了解其背后的分子机制。我们同样缺乏对突变如何与遗传背景互作以调控基因表达，以及该过程如何介导突变表型形成的认知。此外，遗传背景如何影响上位性模式仍有待阐明。为探究黑腹果蝇（Drosophila melanogaster）翅膀上scallopedE3等位基因的遗传背景依赖性的遗传基础与基因组效应，我们通过导入作图（mapping-by-introgression）实验与带标签的RNA基因表达数据集，生成了多套全新的基因组级数据集。此外，我们对作为亲本株系的两个常用实验室果蝇品系进行了全基因组重测序，以预测SD（scalloped）的多态性转录因子结合位点。我们整合...