title: An ovine CFTR variant as a putative cystic fibrosis causing mutation.
abstract: This report describes a DNA variant in the ovine cystic fibrosis transmembrane conductance regulator (CFTR) gene that has been previously reported as a putative cystic fibrosis causing mutation in humans. The variant is a guanine to adenine base change at position 1019 of the ovine CFTR cDNA, corresponding to an arginine (R) to glutamine (Q) amino acid substitution at position 297 in the predicted CFTR polypeptide. The equivalent R297Q mutation in exon 7 of the human CFTR gene has been reported in a CF patient. This is the first putative cystic fibrosis mutation to be detected in another animal species.
authors.affiliation: Department of Biochemistry, University of Otago, Dunedin, New Zealand.
authors.forename: S J
authors.initials: SJ
authors.lastname: Tebbutt
authors.forename: A
authors.initials: A
authors.lastname: Harris
authors.forename: D F
authors.initials: DF
authors.lastname: Hill
mesh_terms: D000818:Animals; D001120:Arginine / Q000235:genetics; D003550:Cystic Fibrosis / Q000209:etiology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017931:DNA Primers; D005973:Glutamine / Q000235:genetics; D008214:Lymphocytes; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017421:Sequence Analysis; D012756:Sheep
chemical_list: D017931:DNA Primers; D005973:Glutamine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001120:Arginine