title: Skipping of multiple CFTR exons is not a result of single exon omissions.
abstract: The omission of complete exons in a proportion of mature transcripts has been shown for a variety of genes. In the case of the cystic fibrosis transmembrane conductance regulator gene, this phenomenon has previously been observed for exons 4, 9 and 12. Here, we describe the detection of a combined skipping of exons 11 and 12 in the absence of detectable transcripts missing only exon 11. This constellation has been found both in peripheral blood cells and in specifically expressing lung tissue, and excludes the possibility that the simultaneous skipping of both exons is merely a stochastic combination of single exon skipping events.
authors.affiliation: Institut für Humangenetik der Universität, Göttingen, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Rickers
authors.forename: F
authors.initials: F
authors.lastname: Rininsland
authors.forename: L
authors.initials: L
authors.lastname: Osborne
authors.forename: J
authors.initials: J
authors.lastname: Reiss
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008168:Lung / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012313:RNA / Q000032:analysis
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012313:RNA; D004247:DNA