title: Characterization of canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards.
abstract: The nucleotide sequence of the canine rod photoreceptor cGMP-gated cation channel alpha-subunit (cCNCG1) cDNA has been determined. The open reading frame consists of 2073 nucleotides, which encode a putative protein of 691 amino acids. In addition, we have established the exon/intron boundaries of the cCNCG1 gene and determined the complete sequence of six introns of a total of eight. The exon/intron organization (location and length of exons and introns) of the cCNCG1 gene is very similar to that of the human rod photoreceptor cGMP-gated cation channel alpha-subunit gene. We used single-strand conformation polymorphism analysis to search for potential pathogenic sequence changes in the cCNCG1 gene in a Swedish Briard and Briard-Beagle dog kindred, in which an autosomal recessive retinal dystrophy is segregating, a disease which shows phenotypic similarities to retinitis pigmentosa, a heterogeneous group of hereditary and progressive retinal degeneration in human. In intron 3, we found several DNA polymorphisms, which do not cosegregate with the affected status of the dogs, thus excluding cCNCG1 as a candidate gene for the retinal dystrophy in this strain of Swedish Briards.
authors.affiliation: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Veske
authors.forename: S E
authors.initials: SE
authors.lastname: Nilsson
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle; D006152:Cyclic GMP / Q000235:genetics*; D054815:Cyclic Nucleotide-Gated Cation Channels; D018076:DNA, Complementary / Q000737:chemistry / Q000302:isolation & purification; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005091:Exons; D006801:Humans; D007178:Inbreeding; D007438:Introns; D007473:Ion Channels / Q000737:chemistry* / Q000235:genetics* / Q000502:physiology; D051379:Mice; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D051381:Rats; D012162:Retinal Degeneration / Q000235:genetics* / Q000662:veterinary*; D012374:Rod Cell Outer Segment / Q000737:chemistry* / Q000502:physiology; D017386:Sequence Homology, Amino Acid; D013548:Sweden
chemical_list: D054815:Cyclic Nucleotide-Gated Cation Channels; D018076:DNA, Complementary; D007473:Ion Channels; D006152:Cyclic GMP