title: The canine Phosducin gene: characterization of the exon-intron structure and exclusion as a candidate gene for generalized progressive retinal atrophy in 11 dog breeds.
abstract: OBJECTIVE
  The exon-intron structure of the canine Phosducin (PDC) gene was identified and the gene evaluated as a candidate for generalized progressive retinal atrophy (gPRA) in 20 dog breeds.
  
  
  METHODS
  Intronic sequences of the PDC gene were analyzed after amplification using polymerase chain reaction (PCR) and following sequencing from clones isolated from a canine genomic library. Mutation screening was performed by PCR with single strand conformation polymorphism (SSCP) analysis. Conspicuous banding patterns were analyzed via sequence analyses to detect the underlying nucleotide variations.
  
  
  RESULTS
  No polymorphisms were identified after PCR-SSCP analysis within the entire coding region of the PDC gene. A 3 bp deletion in intron intervening sequence (IVS) 3 (position -16 to -18) was observed in 9 breeds, a T->A transversion (position IVS3 -63) in 10 breeds and an A->T transversion (position IVS3 -64) in 2 dog breeds. CONCLUSIONS PDC was excluded as a candidate gene for autosomal recessively (ar) transmitted gPRA in 11 of the 20 dog breeds investigated.
authors.affiliation: Molecular Human Genetics, Ruhr University, 44780 Bochum, Germany. gabriele.dekomien@ruhr-uni-bochum.de
authors.forename: Gabriele
authors.initials: G
authors.lastname: Dekomien
authors.forename: Jörg Thomas
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000818:Animals; D001284:Atrophy; D001483:Base Sequence; D001766:Blindness / Q000235:genetics / Q000662:veterinary; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005091:Exons / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D020555:GTP-Binding Protein Regulators; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D010750:Phosphoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012160:Retina / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000662:veterinary*
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; D020555:GTP-Binding Protein Regulators; D010750:Phosphoproteins; C065631:phosducin