title: Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (cGC-E) and exclusion of its involvement in the inherited retinal dystrophy of the Swedish Briard and Briard-beagle dogs.
abstract: Intracellular cyclic GMP concentration is known to change in response to a wide variety of agents, including hormones, neurotransmitters or light. In vertebrate photoreceptors, different membrane-bound guanylate cyclase isoforms are responsible for cGMP synthesis and thus directly involved in termination of light signalling via the phototransduction cascade and recovery of the dark state. We have characterized a 4.7 kb long cDNA for the canine retinal guanylate cyclase isoform E (cGC-E) predicting a polypeptide of 1109 amino acids. The genomic structure and the complete sequence of the canine GC-E gene, which consists of 20 exons and spans about 14.5 kb, has also been determined. Northern blot analysis showed that GC-E was expressed in the canine retina as a 4.7 and 6.1 kb large transcript. RT-PCR analysis also detected low expression in cerebrum (occipital lobe). We performed a sequence analysis of the cGC-E gene in animals of a Swedish Briard and Briard-Beagle dog kinship in which an inherited retinal dystrophy is segregating. Several intragenic DNA polymorphisms were identified and used for segregation analysis which excluded cGC-E as a candidate gene for this type of canine retinal dystrophy.
authors.affiliation: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 42, D-22529, 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; D018076:DNA, Complementary / Q000737:chemistry / Q000302:isolation & purification; D004283:Dog Diseases / Q000201:enzymology / Q000235:genetics*; D004285:Dogs; D005091:Exons; D005136:Eye Proteins / Q000096:biosynthesis / Q000235:genetics*; D006162:Guanylate Cyclase / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007438:Introns; D007527:Isoenzymes / Q000096:biosynthesis / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D051381:Rats; D011956:Receptors, Cell Surface; D000074261:Receptors, Enterotoxin; D050705:Receptors, Guanylate Cyclase-Coupled; D018000:Receptors, Peptide / Q000096:biosynthesis / Q000235:genetics*; D012160:Retina / Q000201:enzymology*; D012162:Retinal Degeneration / Q000201:enzymology / Q000235:genetics* / Q000662:veterinary*
chemical_list: D018076:DNA, Complementary; D005136:Eye Proteins; D007527:Isoenzymes; D011956:Receptors, Cell Surface; D018000:Receptors, Peptide; D006162:Guanylate Cyclase; C484781:Gucy2e protein, rat; D000074261:Receptors, Enterotoxin; D050705:Receptors, Guanylate Cyclase-Coupled