Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Academic Article uri icon

Overview

MeSH

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

MeSH Major

  • Cystic Fibrosis
  • Membrane Proteins
  • RNA, Messenger

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 date

  • February 1993

has subject area

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

Research

keywords

  • Journal Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/ng0293-151

PubMed ID

  • 7684646

Additional Document Info

start page

  • 151

end page

  • 156

volume

  • 3

number

  • 2