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The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR

Nature Genetics volume 3, pages 311–316 (1993)Cite this article

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) is a phosphorylation-regulated Ch− channel. In most mammalian cells, the functional consequences of the most common CF mutation, ΔF508-CFTR, cannot be assessed as the mutant protein undergoes biosynthetic arrest. However, function can be studied in the baculovirus-insect cell expression system where ΔF508-CFTR does not appear to undergo such arrest. Our results show that phosphorylation-regulated Cl− channel activity of ΔF508-CFTR is similar to that of wild-type CFTR. This observation was confirmed in comparative studies of purified ΔF508-CFTR and CFTR reconstituted in planar lipid bilayers. Therefore, we suggest that this Common mutation does not result in a significant alteration in CFTR function

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Authors and Affiliations

  1. Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada

    Canhui Li, Mohabir Ramjeesingh, Evangelica Reyes, Tim Jensen, Xiubao Chang, Johanna M. Rommens & Christine E. Bear

  2. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, M5S 1A8, Canada

    Johanna M. Rommens

  3. Department of Physiology, University of Toronto, Toronto, Ontario, M5S 1A8, Canada

    Christine E. Bear

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  1. Canhui Li
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  4. Tim Jensen
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  6. Johanna M. Rommens
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Li, C., Ramjeesingh, M., Reyes, E. et al. The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR. Nat Genet 3, 311–316 (1993). https://doi.org/10.1038/ng0493-311

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