Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

Nat Genet. 1993 Feb;3(2):151-6. doi: 10.1038/ng0293-151.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • Exons
  • Female
  • Genotype
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA Processing, Post-Transcriptional / genetics
  • RNA Splicing / genetics
  • RNA, Messenger / genetics*
  • Transcription, Genetic

Substances

  • CFTR protein, human
  • Membrane Proteins
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA