University of Pennsylvania ScholarlyCommons Departmental Papers (Vet) School of Veterinary Medicine 8-2013 A Non-Stop S-Antigen Gene Mutation Is Associated With Late Onset Hereditary Retinal Degeneration in Dogs Orly Goldstein Julie Ann Jordan Gustavo D. Aguirre University of Pennsylvania,
[email protected] Gregory M. Acland Follow this and additional works at: https://repository.upenn.edu/vet_papers Part of the Veterinary Medicine Commons 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 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/vet_papers/77 For more information, please contact
[email protected]. 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) es gregating as an adult onset autosomal recessive disorder in the Basenji breed of dog. Methods: Basenji dogs were ascertained for the PRA hep notype 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).