Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

ABSTRACT:

Unlabelled

Mutations in RPGRIP1 are associated with early onset retinal degenerations in humans and dogs. Dogs homozygous for a 44 bp insertion including a polyA(29) tract potentially leading to premature truncation of the protein, show cone rod degeneration. This is rapid and blinding in a colony of dogs in which the mutation was characterised but in dogs with the same mutation in the pet population there is very variable disease severity and rate of progression.

Objective

We hypothesized that this variability must be associated with leakiness of the RPGRIP1 mutation, allowing continued RPGRIP1 production. The study was designed to discover mechanisms that might allow such leakiness.

Methods

We analysed alternate start sites and splicing of RPGRIP1 transcripts; varia

SUBMITTER: Miyadera K 

PROVIDER: S-EPMC3520932 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature