A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.

ABSTRACT:

Purpose

To identify the causative mutation of canine progressive retinal atrophy (PRA) segregating as an adult onset autosomal recessive disorder in the Basenji breed of dog.

Methods

Basenji dogs were ascertained for the PRA phenotype by clinical ophthalmoscopic examination. Blood samples from six affected cases and three nonaffected controls were collected, and DNA extraction was used for a genome-wide association study using the canine HD Illumina single nucleotide polymorphism (SNP) array and PLINK. Positional candidate genes identified within the peak association signal region were evaluated.

Results

The highest -Log10(P) value of 4.65 was obtained for 12 single nucleotide polymorphisms on three chromosomes. Homozygosity and linkage disequilibrium analyses favored

SUBMITTER: Goldstein O 

PROVIDER: S-EPMC3762564 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature