Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.

ABSTRACT: Defects in aryl hydrocarbon receptor interacting protein-like1 (AIPL1) are associated with blinding diseases with a wide range of severity in humans. We examined the mechanism behind autosomal dominant cone-rod dystrophy (adCORD) caused by 12 base pair (bp) deletion at proline 351 of hAIPL1 (P351Δ12) mutation in the primate-specific region of human AIPL1. Mutant P351Δ12 human isoform, aryl hydrocarbon receptor interacting protein-like 1 (hAIPL1) mice demonstrated a CORD phenotype with early defects in cone-mediated vision and subsequent photoreceptor degeneration. A dominant CORD phenotype was observed in double transgenic animals expressing both mutant P351Δ12 and normal hAIPL1, but not with co-expression of P351Δ12 hAIPL1 and the mouse isoform, aryl hydrocarbon receptor interacting prote

SUBMITTER: Ku CA 

PROVIDER: S-EPMC4357806 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature