title: The retinal fascin gene 2 (FSCN2)--partial structural analysis and polymorphism detection in dogs with progressive retinal atrophy (PRA).
abstract: The retinal fascin 2 gene (FSCN2) underwent a molecular analysis, a search for polymorphisms and an evaluation as a candidate gene for retinopathies in dogs. Specific fragments of the gene encompassing partial exon 1 and intron 1, and exons 2-5 with respective introns were sequenced and these data were deposited in the GenBank database. Three distinct polymorphic sites detectable with PCR-RFLP were found--AM050719: g.237G>A, AM050719: g.525A>G, and AM050720: g.1071A>G. No positive associations between these polymorphisms and the PRA-clinical status were observed in the investigated population consisting of Poodles, American Cocker Spaniels, and English Cocker Spaniels. In spite of that, the FSCN2 gene remains an excellent candidate gene for retinopathies in dogs and the results can contribute to further research in this field.
authors.affiliation: Laboratory of Animal Genomics, Institute of Animal Physiology and Genetics, Rumburska 89, 277 21 Libechov, Czech Republic. horakpav@email.cz
authors.forename: Pavel
authors.initials: P
authors.lastname: Horák
authors.forename: Ales
authors.initials: A
authors.lastname: Knoll
authors.forename: Josef
authors.initials: J
authors.lastname: Dvorák
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005091:Exons; D007438:Introns; D008840:Microfilament Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000662:veterinary*
chemical_list: D002352:Carrier Proteins; D008840:Microfilament Proteins; C020324:fascin