Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

ABSTRACT: Mutations in RPGR (retinitis pigmentosa GTPase regulator) are the most common cause of X-linked RP, a severe blindness disorder. RPGR mutations result in clinically variable disease with early- to late-onset phenotypic presentation. Molecular mechanisms underlying such heterogeneity are unclear. Here we show that phenotypic expression of Rpgr-loss in mice is influenced genetically by the loss of Cep290, a human ciliopathy gene. We found that Rpgr^ko/Y mice with a heterozygous hypomorphic allele of Cep290 (Cep290^rd16/+) but not of a heterozygous null allele of Cep290 (Cep290^null/+) or of other ciliopathy genes, Rpgrip1, Nphp1, Nphp4 and Nphp5, exhibit relatively early onset (by 3 months of age) retinal degeneration and dysfunction when compared with the onset

SUBMITTER: Rao KN 

PROVIDER: S-EPMC5062589 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature