title: Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.
abstract: The human RDS gene, previously mapped to chromosome 6p, encodes a protein found in the outer disc membrane of the photoreceptor cells of the retina. The cDNA sequence of the human gene shows 85% identity with the bovine peripherin gene and the rds (retinal degeneration slow) genes from mouse and rat. Mutations in the RDS gene have recently been implicated in autosomal dominant retinitis pigmentosa (adRP) in some families. Here we present evidence that the third exon of this gene is subject to polymorphic variation in humans. The three sequence alterations described in this paper give rise to amino acid substitutions. However, as these missense mutations also occur in the normal population they are not implicated as causing adRP. Interestingly such sequence variation is not found within other species examined including mouse and bovine. These intragenic polymorphisms will be of future potential value in studies to locate further disease causing mutations in adRP patients in the RDS gene.
authors.affiliation: Department of Genetics, Trinity College, Dublin, Ireland.
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D017124:Conserved Sequence; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008562:Membrane Glycoproteins; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D011110:Polymorphism, Genetic; D051381:Rats; D012174:Retinitis Pigmentosa / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: D015342:DNA Probes; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C578996:Prph2 protein, mouse; C579003:Prph2 protein, rat; D004247:DNA