Expression and characterization of the cystic fibrosis transmembrane conductance regulator

Nature. 1990 Sep 27;347(6291):382-6. doi: 10.1038/347382a0.

Abstract

Cystic fibrosis (CF) is a common lethal genetic disease that manifests itself in airway and other epithelial cells as defective chloride ion absorption and secretion, resulting at least in part from a defect in a cyclic AMP-regulated, outwardly-rectifying Cl- channel in the apical surface. The gene responsible for CF has been identified and predicted to encode a membrane protein termed the CF transmembrane conductance regulator (CFTR). Identification of a cryptic bacterial promoter within the CFTR coding sequence led us to construct a complementary DNA in a low-copy-number plasmid, thereby avoiding the deleterious effects of CFTR expression on Escherischia coli. We have used this cDNA to express CFTR in vitro and in vivo. Here we demonstrate that CFTR is a membrane-associated glycoprotein that can be phosporylated in vitro by cAMP-dependent protein kinase. Polyclonal and monoclonal antibodies directed against distinct domains of the protein immunoprecipitated recombinant CFTR as well as the endogenous CFTR in nonrecombinant T84 cells. Partial proteolysis fingerprinting showed that the recombinant and non-recombinant proteins are indistinguishable. These data, which establish several characteristics of the protein responsible for CF, will now enable CFTR function to be studied and will provide a basis for diagnosis and therapy.

Publication types

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

MeSH terms

  • Chloramphenicol O-Acetyltransferase / genetics
  • Cyclic AMP / pharmacology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • Escherichia coli / genetics
  • Gene Expression*
  • HeLa Cells
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Phosphorylation
  • Plasmids
  • Promoter Regions, Genetic / genetics
  • Protein Kinases / metabolism
  • Recombinant Proteins / metabolism
  • Restriction Mapping
  • Transcription, Genetic
  • Transfection
  • Tumor Cells, Cultured

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Recombinant Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • Cyclic AMP
  • Chloramphenicol O-Acetyltransferase
  • Protein Kinases