CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.

ABSTRACT: Massive parallel sequencing enables identification of numerous genetic variants in mutant organisms, but determining pathogenicity of any one mutation can be daunting. The most commonly studied preclinical model of retinitis pigmentosa called the "rodless" (rd1) mouse is homozygous for two mutations: a nonsense point mutation (Y347X) and an intronic insertion of a leukemia virus (Xmv-28). Distinguishing which mutation causes retinal degeneration is still under debate nearly a century after the discovery of this model organism. Here, we performed gene editing using the CRISPR/Cas9 system and demonstrated that the Y347X mutation is the causative variant of disease. Genome editing in the first generation produced animals that were mosaic for the corrected allele but still showed neurofunction

SUBMITTER: Wu WH 

PROVIDER: S-EPMC5023380 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature