Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

Nature Medicine

Volumn 3, Issue 11, 1997, Pages 1280-1284

  Bedwell, David M ^a   Kaenjak, Anisa ^a   Benos, Dale J ^a,b   Bebok, Zsuzsa ^a,b   Bubien, James K ^a,b   Hong, Jeong ^a,b   Tousson, Albert ^a,b   Clancy, J P ^a,b,c   Sorscher, Eric J ^a,b,c  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c Center for Palliative Care   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; GENTAMICIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AMINO ACID SEQUENCE; ARTICLE; CHLORIDE CURRENT; CYSTIC FIBROSIS; GENE MUTATION; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; STOP CODON;

EID: 0030702773     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/nm1197-1280     Document Type: Article

References (20)

1. Kerem, B.-S. et al. Identification of the cystic fibrosis gene: Genetic analysis. Science 245, 1073-1080 (1989).
2. Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum. Mutat. 4, 167-177 (1994).
3. Howard, M., Frizzell, R.A. & Bedwell, D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nature Med. 2, 467-469 (1996).
4. Bonetti, B., Fu, L., Moon, J. & Bedwell, D.M. The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae. J. Mol. Biol. 251, 334-345 (1995).
5. Yang, Y. et al. Molecular basis of defective anion transport in L cells. Hum. Mol. Genet. 2, 1253-1261 (1993).
6. Zeitlin, P.L. et al. A cystic fibrosis bronchial epithelial cell line: Immortalization by adeno-12 SV40 infection. Am. J. Respir. Cell Mol. Biol. 4, 313-319 (1991).
7. Schwiebert, E.M., Flotte, T., Cutting, G.R. & Guggino, W.B. Both CFTR and outwardly rectifying chloride channels contribute to cAMP-stimulated whole cell chloride currents. Am. J. Physiol. 266, C1464-1477 (1994).
8. Gabriel, S.E., Clarke, L.L., Boucher, R.C. & Stutts, M.J. CFTR and outwardly rectifying chloride channels are distinct proteins with a regulatory relationship. Nature 363, 263-266 (1993).
9. Egan, M.E. et al. Defective regulation of outwardly rectifying chloride channels by protein kinase A corrected by insertion of CFTR. Nature 358, 581-584 (1992).
10. Schoumacher, R. et al. A cystic fibrosis pancreatic adenocarcinoma cell line. Proc. Natl. Acad. Sci, USA 87, 4012-4016 (1990).
11. Bradbury, N. et al. Regulation of plasma membrane recycling by CFTR. Science 256, 530-532 (1992).
12. Prince, L.S., Workman, R.B. & Marchase, R.B. Rapid endocytosis of the cystic fibrosis transmembrane conductance regulator chloride channel. Proc. Natl. Acad. Sci, USA 91, 5192-5196 (1994).
13. Tousson, A., Fuller, C.M. & Benos, D.J. Apical recruitment of CFTR in T-84 cells is dependent on CAMP and microtubules but not calcium or microfilaments. J. Cell Sci. 109, 1325-1334 (1996).
14. Cheng, S.H. et al. Defective intracellular transport and processing is the molecular basis of most cystic fibrosis. Cell 63, 827-834 (1990).
15. Hamosh, A., Rosenstein, B.J. & Cutting, G. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Hum. Mol. Genet. 1, 542-544 (1992).
16. Fuller, C.M., Howard, M., Bedwell, D.M., Frizzell, R.A. & Benos, D.J. Antibodies against the cystic fibrosis transmembrane regulator. Am. J. Physiol. 262, C396-C404 (1992).
17. Demolombe, S. et al. Abnormal subcellular localization of mutated CFTR protein in a cystic fibrosis epithelial cell line. Eur. J. Cell Biol. 65, 214-219 (1994).
18. Hamosh, A. et al. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J. Clin. Invest. 88, 1880-1885 (1991).
19. Shoshani, T. et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am. J. Hum. Genet. 50, 222-228 (1992).
20. Hasty, P. et al. A severe phenotype in mice with a termination mutation in exon 2 of the cystic fibrosis gene. Somat. Cell Mol. Genet. 21, 177-187 (1995).