Alternative splicing of a previously unidentified CFTR exon introduces an in-frame stop codon 5' of the R region

FEBS Lett. 1993 Aug 23;329(1-2):159-62. doi: 10.1016/0014-5793(93)80214-f.

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) has been extensively characterized as the carrier of the basic defect in cystic fibrosis. CFTR is part of a growing family of proteins encoded by a single gene, the variant isoforms of which are generated by alternative splicing or RNA editing. We have analyzed the CFTR mRNA in the region of exons 10-11 in T84 cells and detected an alternatively spliced exon (10b) accounting for about 5% of the CFTR mRNA. The exon 10b found in both the human and mice genomes, introduces an in-frame stop codon. The resulting mRNA is translated into a truncated CFTR protein, identified in T84 cells by immunoprecipitation with the CFTR-specific monoclonal antibody MATG 1061. The insertion of a differentially spliced exon carrying an in-frame stop codon is a novel cellular mechanism for the production of a protein sharing common sequences with another, but having different properties and functions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Antibodies, Monoclonal
  • Base Sequence
  • Cloning, Molecular
  • Codon*
  • Colonic Neoplasms
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / chemistry
  • DNA / genetics
  • Exons*
  • Humans
  • Immunosorbent Techniques
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Mice
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA Splicing*
  • RNA, Messenger / analysis
  • RNA, Messenger / chemistry
  • RNA, Messenger / genetics
  • Sequence Homology, Nucleic Acid
  • Tumor Cells, Cultured

Substances

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