title: The stop mutation R553X in the CFTR gene results in exon skipping.
abstract: Stop or nonsense mutations are known to disrupt gene function in a number of different ways. We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Four patients who were compound heterozygotes for the R553X mutation were studied. Ten non-CF control subjects were also studied. In all four patients, full-length CFTR mRNA was identified, but only a very small proportion of this was derived from the R553X allele. A smaller transcript, lacking exon 11, was also seen in the R553X patients but not in the controls. Most of this transcript was derived from the R553X allele. These results suggest that the R553X mutation results in skipping of the exon in which it is located.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, England.
authors.forename: J
authors.initials: J
authors.lastname: Hull
authors.forename: S
authors.initials: S
authors.lastname: Shackleton
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D016368:Frameshift Mutation; D005787:Gene Frequency; D005796:Genes; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D012333:RNA, Messenger / Q000096:biosynthesis* / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator