Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.

ABSTRACT: Individuals carrying the same pathogenic mutation can present with a broad range of disease outcomes. While some of this variation arises from environmental factors, it is increasingly recognized that the background genetic variation of each individual can have a profound effect on the expressivity of a pathogenic mutation. In order to understand this background effect on disease-causing mutations, studies need to be performed across a wide range of backgrounds. Recent advancements in model organism biology allow us to test mutations across genetically diverse backgrounds and identify the genes that influence the expressivity of a mutation. In this study, we used the Drosophila Genetic Reference Panel, a collection of ∼200 wild-derived strains, to test the variability of the retinal phenot

SUBMITTER: Chow CY 

PROVIDER: S-EPMC4743685 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature