ScholarlyCommons

Title

A Non-Stop S-Antigen Gene Mutation Is Associated With Late Onset Hereditary Retinal Degeneration in Dogs

Author(s)

Orly Goldstein
Julie Ann Jordan
Gustavo D. Aguirre, University of PennsylvaniaFollow
Gregory M. Acland

Document Type

Journal Article

Date of this Version

8-2013

Publication Source

Molecular Vision

Volume

18

Start Page

1871

Last Page

1884

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 one chromosome, CFA25, and screening of the S-antigen (SAG) gene identified a non-stop mutation (c.1216T>C), which would result in the addition of 25 amino acids (p.*405Rext*25).

Conclusions: Identification of this non-stop SAG mutation in dogs affected with retinal degeneration establishes this canine disease as orthologous to Oguchi disease and SAG-associated retinitis pigmentosa in humans, and offers opportunities for genetic therapeutic intervention.

Copyright/Permission Statement

This work is under a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0. The authors retain copyright and grant Molecular Vision an irrevocable, royalty-free, perpetual license to publish and distribute the article, in all formats now known or later developed, and to identify Molecular Vision as the original publisher.

Keywords

progressive retinal atrophy, PRA, mutation, canine, Basenji dogs, s-antigen

Recommended Citation

Goldstein, O., Jordan, J., Aguirre, G. D., & Acland, G. M. (2013). A Non-Stop S-Antigen Gene Mutation Is Associated With Late Onset Hereditary Retinal Degeneration in Dogs. Molecular Vision, 18 1871-1884. Retrieved from https://repository.upenn.edu/vet_papers/77