title: Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs.
abstract: The delta and gamma 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.
authors.affiliation: Human Genetics, Ruhr-University, 44780 Bochum, Germany. gabriele.dekomien@ruhr-uni-bochum.de
authors.forename: Gabriele
authors.initials: G
authors.lastname: Dekomien
authors.forename: Joerg T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000818:Animals; D001284:Atrophy; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D017931:DNA Primers / Q000235:genetics; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D007527:Isoenzymes / Q000235:genetics; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics / Q000662:veterinary*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D007527:Isoenzymes; D010727:Phosphoric Diester Hydrolases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6