Nature 347, 358 - 363 (27 September 1990); doi:10.1038/347358a0

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

Devra P. Rich, Matthew P. Anderson, Richard J. Gregory^*, Seng H. Cheng^*, Sucharita Paul^*, Douglas M. Jefferson^†, John D. McCann, Katherine W. Klinger^‡, Alan E. Smith^* & Michael J. Welsh^§

Howard Hughes Medical Institute, Departments of Internal Medicine and Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
^*Genzyme Corporation and ^‡ IG Laboratories Inc., One Mountain Road, Framingham, Massachusetts 01701, USA
^†Department of Physiology, Tufts University School of Medicine, and Departments of Pediatrics and Medicine, New England Medical Center, Boston, Massachusetts 02111, USA
^§To whom correspondence should be addressed.

The cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in cultured cystic fibrosis airway epithelial cells and Cl^- channel activation assessed in single cells using a fluorescence microscopic assay and the patch-clamp technique. Expression of CFTR, but not of a mutant form of CFTR (F508), corrected the Cl^- channel defect. Correction of the phenotypic defect demonstrates a causal relationship between mutations in the CFTR gene and defective Cl^- transport which is the hallmark of the disease.

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