title: Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd).
abstract: Canine early retinal degeneration (erd) is an early onset form of canine progressive retinal atrophy phenotypically similar to human retinitis pigmentosa. In a previous study, the locus responsible for erd was mapped to canine chromosome 27 in the region corresponding to HSA12p, a region where no human retinal degeneration loci have been mapped. Canine SHARP1 gene has been localized on CFA27 in the erd interval by RH mapping, and considered as a positional candidate gene for erd. SHARP1 was cloned and sequenced from normal and erd affected dogs, and no disease-causing mutations were identified. Genotyping of 117 dogs from informative pedigrees did not reveal any recombinants between SHARP1 and erd. To date SHARP1 gene is the closest gene-specific marker to erd; genotyping additional informative pedigrees, and sequencing SHARP1 upstream regions from normal and affected dogs will be necessary to establish if SHARP1 is involved in this canine retinal disease.
authors.affiliation: James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA.
authors.forename: Anna V
authors.initials: AV
authors.lastname: Kukekova
authors.forename: Gustavo D
authors.initials: GD
authors.lastname: Aguirre
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Acland
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D021101:Radiation Hybrid Mapping; D012162:Retinal Degeneration / Q000235:genetics* / Q000662:veterinary; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013997:Time Factors; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D014157:Transcription Factors; D004247:DNA