Identification of revertants for the cystic fibrosis deltaF508 mutation using STE6-CFTR chimeras in yeast

Article Abstract:

Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations, the most common of which is the deletion of phenylalanine at position 508 (deltaF508). STE6-CFTR hybrid genes in yeast cells were used to identify revertants of CFTRdeltaF508 mutations. When deltaF508 was introduced into the first nucleotide-binding domain (NBD1) of the yeast STE6 a-factor transporter, mating efficiency decreased. Two deltaF508 revertant mutations within the CFTR NBD1 sequence restored mating and introduction of these revertants into human CFTR partially restored the processing and Cl- channel gating defects.

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

Article Abstract:

The four processes that allow mutations to interfere with the cystic fibrosis transmembrane conductance regulator (CFTR) are faulty control of CFTR, erroneous conduction, faulty protein processing and faulty protein generation. The major differences in clinical phenotype and the problems involved in forecasting clinical irregularities caused by CF-associated mutations are some of the reasons for the difficulty of categorizing CFTR mutations using biochemical dysfunction as the criterion.

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An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR

Article Abstract:

Research demonstrates that the regulation of channel activity of the cystic fibrosis transmemebrane conductance regulator (CFTR), an anion channel protein of the ABC transporter family, is regulated by ATPase and Adenylate kinase. However, at physiologic nucleotide concentrations, the latter enzyme controls gating.

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