title: Evaluation of ROM1 as a candidate gene in generalised progressive retinal atrophy in dogs.
abstract: Generalised progressive retinal atrophy (gPRA) is a heterogeneous group of hereditary diseases causing degeneration of the retina in dogs and other animals. The genetic origin is unknown in most cases. We have screened the coding sequence of the ROM1 gene for disease causing mutations in Tibetan Terriers, Miniature Poodles, Dachshunds and Chesapeake Bay Retrievers by single strand conformation polymorphism analysis (SSCP). Two polymorphisms have been identified by sequencing, one in exon 1 in all examined breeds (position 210: G-->A; Gly40Arg and position 252: G-->T; Ala53-Ser). Another polymorphism was present in exon 2 (position 1150: C-->T and position 1195: C-->T) segregating in Miniature Poodles. None of these polymorphisms were cosegregating with gPRA rendering a disease causing mutation in the ROM1 gene unlikely.
authors.affiliation: Ruhr-University, Bochum, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Klein
authors.forename: G
authors.initials: G
authors.lastname: Dekomien
authors.forename: N
authors.initials: N
authors.lastname: Holmes
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000818:Animals; D001284:Atrophy / Q000235:genetics / Q000662:veterinary; D002874:Chromosome Mapping / Q000662:veterinary; D004247:DNA / Q000737:chemistry; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics* / Q000662:veterinary*; D017422:Sequence Analysis, DNA / Q000662:veterinary
chemical_list: D005136:Eye Proteins; D008565:Membrane Proteins; D004247:DNA