title: Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.
abstract: Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative disease of photoreceptors in which defects in the genes encoding rhodopsin, the beta subunit of rod phosphodiesterase (PDEB) and, recently, in the gene for rod cGMP-gated channel, have been reported. However, detailed genetic involvement has not been ascertained in the great majority of cases. Recoverin, another member of the light transduction pathway, is a candidate gene for ARRP. We report the first analyses of the involvement of the recoverin gene (RCV1) in 42 Spanish ARRP families. Linkage and homozygosity studies with an intragenic polymorphism and the close markers D17S945 and D17S786 ruled out RCV1 as the cause of ARRP in 38 pedigrees. In the four remaining families, single strand conformation polymorphism analysis of the recoverin-coding region detected no mutations in the parents or in the affected members. These results strongly suggest that mutations in the RCV1 gene are not responsible for ARRP in these families.
authors.affiliation: Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Bayés
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
authors.forename: J
authors.initials: J
authors.lastname: Benítez
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Beneyto
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
mesh_terms: D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D005136:Eye Proteins; D005260:Female; D008040:Genetic Linkage; D051597:Hippocalcin; D006801:Humans; D008074:Lipoproteins; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D051603:Recoverin; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
chemical_list: D002135:Calcium-Binding Proteins; D005136:Eye Proteins; D008074:Lipoproteins; D009419:Nerve Tissue Proteins; C496731:RCVRN protein, human; D051603:Recoverin; D051597:Hippocalcin