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Title: Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR
Authors: Wei, L
Vankeerberghen, Anne
Jaspers, M
Cassiman, Jean-Jacques
Nilius, Bernd
Cuppens, Harry #
Issue Date: May-2000
Publisher: Elsevier science bv
Series Title: FEBS Letters vol:473 issue:2 pages:149-153
Abstract: The S1235R locus in CFTR was studied in combination with alleles found at the M470V and G628R loci. While R628 caused a maturational defect, R1235 did not. The impact of R1235 was found to be influenced by the alleles present at the G628R and M470V loci. At the single channel level, R1235-V (R1235 on a V470 background) was characterized by an open probability significantly higher than V470-wildtype CFTR, M470, which on its own increases CFTR chloride transport activity when compared to V470-wildtype CFTR, suppressed the activity of R1235 in such a way that a protein with an open probability not significantly different from V470-wildtype CFTR was obtained. While R628-V CFTR had similar current densities as V470-wildtype CFTR in Xenopus laevis oocytes, R1235-V resulted in current densities that were more than twofold higher than those of V470-wildtype CFTR, However, the current densities generated by R1235/R628-V (R1235 and R628 on a V470 background) CFTR were significant lower than R1235-V or R628-V CFTR, (C) 2000 Federation of European Biochemical Societies.
ISSN: 0014-5793
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Human Mutations and Polymorphisms Section (-)
Laboratory of Ion Channel Research
Department of Cellular and Molecular Medicine - miscellaneous
Forensic Biomedical Sciences
# (joint) last author

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