• Richard B. Moss
Part of the Allergy and Immunology book series (ALIM, volume 1)


This work is concerned with Cystic Fibrosis (CF), the most common fatal genetic disease in the Caucasian population. The decade of the 1980s was one of spectacular progress in understanding the genetic and molecular basis of CF. The research breakthroughs of the decade began with the first fundamental insights, published in 1981–1983, into the basic cellular pathophysiology of CF with demonstrations of alteredion transport in specialized exocrine epithelial tissues (1–3). Research progress shifted into a triumph of “reverse genetics,” using restriction-fragment-length polymorphism DNA technology (4), with the localization of the CF gene to a region of chromosome 7 (5–7). Understanding, accelerated by an explosion of in vitro methodologies for epithelial cell culture and transformation, allowed controlled biochemical and physiological studies (8–11); these focused, with increasing precision, on the molecular pathology of distal steps in the regulatory pathways for epithelial ion transport (12–19). Finally, the “end of the beginning” occurred in late 1989with one of the great achievements of molecular genetics, the isolation and cloning of the CF gene (20). As a result, we now have a CF gene product, the cystic fibrosis transmembrane regulator (CFTR), possessing predicted amino acid sequence, suggested tertiary structure, and possible transmembrane transport function (21).


Cystic Fibrosis Cystic Fibrosis Patient Predict Amino Acid Sequence Cystic Fibrosis Transmembrane Regulator Cystic Fibrosis Lung 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Knowles, M., Gatzy, J., and Boucher, R. (1981), N. Engl.J. Med. 305, 1489–1495.PubMedCrossRefGoogle Scholar
  2. 2.
    Quinton, P. M. and Bijman, J. (1983), N. Engl. J. Med. 308, 1185–1189.PubMedCrossRefGoogle Scholar
  3. 3.
    Knowles, M., Gatzy, J., and Boucher, R. (1983),J. Clin. Invest. 71, 1410–1417.PubMedCentralPubMedCrossRefGoogle Scholar
  4. 4.
    Tsui, L.-C., Buchwald, M., Barker, D., Braman, J.C.,Knowlton, R.,Schumm, J. W., Eiberg, H., Mohr, J., Kennedy, D., Plavsic, M., Markiewicz, D., Akots, G., Brown, V., Helms, C, Gravius, T., Parker, C, Rediker, K., and Donis-Keller, H. (1985), Science 230, 1054–1057.PubMedCrossRefGoogle Scholar
  5. 5.
    Knowlton, R. G., Cohen-Haguenauer, O., Van Cong, N., Frezal, J., Brown, V. A., Barker, D., Braman, J. C, Schumm, J. W., Tsui, L.-C, Buchwald, M., and Donis-Keller, H. (1985), Nature 318, 380–382.PubMedCrossRefGoogle Scholar
  6. 6.
    White, R., Woodward, S., Leppert, M., O’Connell, P., Hoff, M., Herbst, J., Lalouel, J.M., Dean, M., and Vande Woude, G. (1985), Nature 318, 382–384.PubMedCrossRefGoogle Scholar
  7. 7.
    Wainwright, B. J., Scambler, P. J., Schmidtke, J., Watson, E. A., Law, H.-Y., Farrall, M, Cooke, H. J., Eiberg, H., and Williamson, R. (1985), Nature 3l8, 384, 385.CrossRefGoogle Scholar
  8. 8.
    Widdicombe, J. H., Welsh, M. J., and Finkbeiner, W. E. (1985), Proc. Natl Acad. Sci. USA 82, 6167–6171.PubMedCrossRefGoogle Scholar
  9. 9.
    Yankaskas, J. R., Knowles, M. R., Gatzy, J. T., and Boucher, R.C. (1985), Lancet 1, 954–956.PubMedCrossRefGoogle Scholar
  10. 10.
    Gruenert, D. C, Basbaum, C. B., Welsh, M. J., Li, M., Finkbeiner, W. E., and Nadel, J. A. (1988), Proc. Natl Acad. Sci. USA 85, 5951–5955.PubMedCrossRefGoogle Scholar
  11. 11.
    Jetten, A. M., Yankaskas, J. R., Stutts, M. J., Willumsen, N. J., and Boucher, R. C. (1989), Science 244, 1472–1475.PubMedCrossRefGoogle Scholar
  12. 12.
    Sato, K. and Sato, F. (1984),J. Clin. Invest. 73, 1763–1771.PubMedCentralPubMedCrossRefGoogle Scholar
  13. 13.
    Welsh, M. J. and Li, C. M. (1986), Nature 322, 467–470.PubMedCrossRefGoogle Scholar
  14. 14.
    Frizzell, R. A., Rechkemmer, G., and Shoemaker, R. L. (1986), Science 233, 558–560.PubMedCrossRefGoogle Scholar
  15. 15.
    Boucher, R.C., Stutts, M. J., Knowles, M. R., Cantley, L., and Gatzy, J. T. (1986), J. Clin. Invest. 78, 1245–1252.PubMedCentralPubMedCrossRefGoogle Scholar
  16. 16.
    Schoumacher, R. A., Shoemaker, R. L., Halm, D. R., Tallant, E. A., Wallace, R. W., and Frizzell, R. A. (1987), Nature 330, 752–754.PubMedCrossRefGoogle Scholar
  17. 17.
    Li, M, McCann, J. D., Liedtke, C. M., Nairn, A. C, Greengard, P., and Welsh, M. J. (1988), Nature 331, 358–360.PubMedCrossRefGoogle Scholar
  18. 18.
    Hwang, T.-G, Lu, L., Zeitlin, P. L., Gruenert, D. C., Huganir, R., and Guggino, W. B. (1989), Science 244, 1351–1353.PubMedCrossRefGoogle Scholar
  19. 19.
    Li, M., McCann, J. D., Anderson, M. P., Clancy, J. P., Liedtke, C. M., Nairn, A. C, Greengard, P., and Welsh, M. J. (1989), Science 244, 1353–1356.PubMedCrossRefGoogle Scholar
  20. 20.
    Rommens, J.M., Iannuzzi, M.C., Kerem, B.-S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J. L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J. R., Tsui, L.-C., and Collins, F. S. (1989), Science 245, 1059–1065.PubMedCrossRefGoogle Scholar
  21. 21.
    Riordan, J. R., Rommens, J.M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavisic, N., Chou, J.-L., Drumm, M.L., Iannuzzi, C, Collins, F. S., and Tsui, L., C. (1989), Science 245, 1066–1073.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Richard B. Moss
    • 1
  1. 1.Stanford University School of MedicinePalo Alto

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