Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus. Academic Article uri icon

Overview

MeSH

  • Amino Acid Sequence
  • Base Sequence
  • Cells, Cultured
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cytoplasm
  • DNA
  • Humans
  • Macrophages, Alveolar
  • Molecular Sequence Data
  • Neutrophils
  • Nucleic Acid Conformation
  • Oligodeoxyribonucleotides
  • RNA, Messenger
  • Tumor Cells, Cultured

MeSH Major

  • Alternative Splicing
  • Cystic Fibrosis
  • Introns
  • Membrane Proteins
  • Transcription, Genetic

abstract

  • The cystic fibrosis transmembrane conductance regulator (CFTR) gene, the gene responsible for the lethal hereditary disorder cystic fibrosis, codes for a membrane protein functioning as a cAMP-regulated Cl- channel. Evaluation of human CFTR mRNA transcripts from epithelial and nonepithelial cells demonstrated a CFTR cDNA containing a 260-base pair (bp) insertion between the known CFTR exons 23 and 24, introducing a premature stop codon that would result in a CFTR protein shortened by 61 amino acids at the carboxyl terminus compared to that expected from the normal reported human CFTR coding sequences. Sequence analysis of intron 23 of the CFTR gene demonstrated that the 260-bp insertion (named exon 24a), a part of the reported intron 23 and located consecutive to exon 24, is likely generated by an alternative splice acceptor site. The exon 24a+ CFTR mRNA transcripts represented 3-16% of the total CFTR transcripts in epithelial and nonepithelial cells. These observations suggest an unexpected plasticity of expression of the CFTR gene, where alternative splicing of precursor CFTR mRNA transcripts permits the use of an alternative exon derived from a genomic segment previously believed to function as an intron.

publication date

  • January 5, 1993

has subject area

  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Cells, Cultured
  • Cystic Fibrosis
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cytoplasm
  • DNA
  • Humans
  • Introns
  • Macrophages, Alveolar
  • Membrane Proteins
  • Molecular Sequence Data
  • Neutrophils
  • Nucleic Acid Conformation
  • Oligodeoxyribonucleotides
  • RNA, Messenger
  • Transcription, Genetic
  • Tumor Cells, Cultured

Research

keywords

  • Journal Article

Identity

Language

  • eng

PubMed ID

  • 7678008

Additional Document Info

start page

  • 686

end page

  • 690

volume

  • 268

number

  • 1