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A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

✍ Scribed by Nanette Kälin; Thilo Dörk; Burkhard Tümmler

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
726 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Lap-Chee Tsui

German cystic fibrosis (CF) chromosomes were screened for molecular lesions in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by chemical cleavage of mismatch. An 3884G-to-A transition was detected in two patients which leads to an exchange of a serine by an asparagine in the Walker motif A of the second nucleotide binding fold. The affected serine residue is evolutionarily strongly conserved among the pro-and eukaryotic members of the protein superfamily of traffic ATPases. The two S1251N alleles were linked to the benign missense mutation F508C which is located in another conserved region of CFTR, the center region of the first nucleotide binding fold. Both patients with the complex allele F508C-Sl251N are carrying AF508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease. Although F508C has been classified as a neutral sequence variation because of its discovery in healthy AF508 gene carriers, it may nevertheless influence CFTR dysfunction caused by the S125 1N mutation.

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