Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs

Abstract

-The δ and γ subunits of the cGMP-phosphodiesterase (PDE6D, PDE6G) genes were screened in order to identify mutations causing generalised progressive retinal atrophy (gPRA) in dogs. In the PDE6D gene, single nucleotide polymorphisms (SNP) were observed in exon 4, in introns 2 and 3 and in the 3 untranslated region (UTR) of different dog breeds. In the coding region of the PDE6G gene, exclusively healthy Labrador Retrievers showed an A → G transition in exon 4 without amino acid exchange. SNP were also observed in introns 1 and 2 in different dog breeds. The different SNP were used as intragenic markers to investigate the involvement of both genes in gPRA. The informative substitutions allowed us to exclude mutations in the PDE6D and PDE6G genes as causing retinal degeneration in 15 of the 22 dog breeds with presumed autosomal recessively transmitted (ar) gPRA.cGMP-phosphodiesterase / canine / generalised progressive retinal atrophy / SNP / retinitis pigmentosa / SSCP

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

“…Examples include PDE6A (Wang et al 1999), PDE6D and PDE6G (Dekomien and Epplen 2003; Wang et al 1999), arrestin (Dekomien and Epplen 2002c), peripherin/ rds (Ray et al 1996; Runte et al 2000), ROM1 (Gould et al 1997; Klein et al 1998), phosducin (Dekomien and Epplen 2002a; Lin et al 1998; Zhang et al 1998), opsin (Gould et al 1995; Ray et al 1999), and recoverin (Dekomien and Epplen 2002b). As mutations could be identified in only 3.4% of the candidate gene studies of canine RDs, there was considerable pessimism as to the applicability and efficacy of this approach (Aguirre-Hernandez and Sargan 2005).…”