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Nat Genet. 1993 Apr;3(4):311-6.

The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.

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

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) is a phosphorylation-regulated Cl- channel. In most mammalian cells, the functional consequences of the most common CF mutation, delta F508-CFTR, cannot be assessed as the mutant protein undergoes biosynthetic arrest. However, function can be studied in the baculovirus-insect cell expression system where delta F508-CFTR does not appear to undergo such arrest. Our results show that phosphorylation-regulated Cl- channel activity of delta F508-CFTR is similar to that of wild-type CFTR. This observation was confirmed in comparative studies of purified delta F508-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.

PMID:
7526932
DOI:
10.1038/ng0493-311
[Indexed for MEDLINE]
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