IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.

ABSTRACT:

Purpose

To identify the causative mutations in two early-onset canine retinal degenerations, crd1 and crd2, segregating in the American Staffordshire terrier and the Pit Bull Terrier breeds, respectively.

Methods

Retinal morphology of crd1- and crd2-affected dogs was evaluated by light microscopy. DNA was extracted from affected and related unaffected controls. Association analysis was undertaken using the Illumina Canine SNP array and PLINK (crd1 study), or the Affymetrix Version 2 Canine array, the "MAGIC" genotype algorithm, and Fisher's Exact test for association (crd2 study). Positional candidate genes were evaluated for each disease.

Results

Structural photoreceptor abnormalities were observed in crd1-affected dogs as young as 11-weeks old. Rod and cone inner se

SUBMITTER: Goldstein O 

PROVIDER: S-EPMC3809947 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature