title: Cloning of canine rom-1 and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs.
abstract: Generalized progressive retinal atrophy (gPRA) represents a genetically heterogenous group of retinal degenerations affecting pedigree dogs. Currently, we are using a candidate gene approach in an attempt to identify mutations causing gPRA in dogs. Here we report the cloning, sequencing and analysis of canine rom-1, a structural gene of the rod photoreceptor. Single-stranded conformation polymorphism (SSCP) analysis was used to look for polymorphisms segregating with gPRA in the English cocker spaniel, Labrador retriever, miniature poodle, miniature long-haired dachshund, Tibetan terrier, miniature schnauzer, Cardigan Welsh corgi and Irish wolfhound. Further investigation involved DNA sequencing and restriction fragment length polymorphism (RFLP) analysis. Our studies revealed the presence of three polymorphisms, none of which segregated with disease phenotype. Haplotype analysis identified four rom-1 alleles. Our results indicate that rom-1 is unlikely to be a cause of gPRA in the breeds of dog examined.
authors.affiliation: Department of Clinical Veterinary Medicine, University of Cambridge, UK.
authors.forename: D J
authors.initials: DJ
authors.lastname: Gould
authors.forename: S M
authors.initials: SM
authors.lastname: Petersen-Jones
authors.forename: C T
authors.initials: CT
authors.lastname: Lin
authors.forename: D R
authors.initials: DR
authors.lastname: Sargan
mesh_terms: D000818:Animals; D003001:Cloning, Molecular; D017931:DNA Primers; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs / Q000235:genetics*; D005091:Exons; D005136:Eye Proteins / Q000096:biosynthesis / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D011994:Recombinant Proteins / Q000096:biosynthesis; D012162:Retinal Degeneration / Q000235:genetics / Q000662:veterinary*; D012374:Rod Cell Outer Segment; D013045:Species Specificity
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; D008565:Membrane Proteins; D011994:Recombinant Proteins