title: Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
abstract: Variable in-frame skipping of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9-) occurs in the respiratory epithelium. To explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an inverse relationship between the length of the polythymidine tract at the exon 9 splice branch/acceptor site and the proportion of exon 9- CFTR mRNA transcripts. These results strongly indicate a genetic basis in vivo modulating post-transcriptional processing of CFTR mRNA transcripts.
authors.affiliation: Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: C S
authors.initials: CS
authors.lastname: Chu
authors.forename: B C
authors.initials: BC
authors.lastname: Trapnell
authors.forename: S
authors.initials: S
authors.lastname: Curristin
authors.forename: G R
authors.initials: GR
authors.lastname: Cutting
authors.forename: R G
authors.initials: RG
authors.lastname: Crystal
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA