Cystic fibrosis transmembrane conductance regulator gene

Rosenfeld, M.A., Yoshimura, K., Trapnell, B.C., et al. (1992). In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. Cell, 68(1), 143-155. 

Yoshimura K, Rosenfeld MA, Nakamura H, Scherer EM, Pavirani A, Lecocq JP, Crystal RG. Expression of the human cystic fibrosis transmembrane conductance regulator gene in the mouse lung after in vivo intratracheal plasmid-mediated gene transfer. Nucleic Acids Res 1992, 20, 3233-3240. 

Cystic fibrosis is a hereditary disorder caused by mutation in the cystic fibrosis transmembrane conductance regulator gene that encodes a cyclic adenosine monophosphate-regulated chloride channel. Defects in chloride ion transport in the airway epithelia lead to abnormal airway secretions, impaired mucociliary clearance, chronic bacterial infection, bronchiectasis, and premature death. Delivery of the cystic fibrosis transmembrane conductance regulator cDNA by adenovirus vectors or the plasmid-liposome complex resulted in transient correction of the defects in patients with cystic fibrosis. Formulations of cationic lipid-DNA complexes for aerosol delivery are being explored to improve on the gene therapy approach. 

Yoshimura K, Chu CS, Crystal RG. 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. J Biol Chem 1993 268 686. 

The primary structure refers to the amino acid sequence of the polypeptide chain. An error caused by a single incorrect amino acid amongst a chain of 1480 amino acids can seriously affect the function of the protein. This happens in people with cystic fibrosis who have a defective CFTR (cystic fibrosis transmembrane conductance regulator) gene, which produces a defective chloride transporter protein. In 70% of people with cystic fibrosis, the mutation is deletion of 3 base pairs in the DNA, which results in the loss of phenylalanine... 

Zuckerman JB, Robinson CB, McCoy KS, Shell R, Sferra TJ, Chirmule N, et al. A Phase I study of adenoviras-mediated transfer of the human cystic fibrosis transmembrane conductance regulator gene to a lung segment of individuals with cystic fibrosis. Hum Gene Ther 1999 10 2973-2985. 

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