The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-02

AUTHORS

Per M. Knappskog, Hans Geir Eiken, Aurora Martinez, Torgeir Flatmark, Jaran Apold

ABSTRACT

The mutation S349P in exon 10 of the phenylalanine hydroxylase (PAH) gene was identified in one Norwegian and one Polish phenylketonuria (PKU) allele on a haplotype 1.7 background. This missense mutation in PAH codon 349 is a T to C transition in cDNA position 1267. This mutation has been reported both on haplotype 1 and 4, suggesting recurrent mutation. In two different expression systems, the pET and the pMAL systems of Escherichia coli, it was shown that the S349P mutation, introduced by site directed mutagenesis, results in complete loss of enzymatic activity. Thus, protein instability alone does not seem to be the direct cause of the lack of activity of this PKU mutation as previously reported.We have identified mutations in the PAH gene of 118 PKU patients in Norway. To obtain information about how the different mutations affect the catalytic properties of the PAH enzyme we have used two prokaryotic expression systems.We detected the mutation S349P (Forrest et al. 1991) in one Norwegian patient and one of Polish ancestry. This mutation has previously been reported on haplotype 4 in North-African Jews (Weinstein et al. 1993), and on haplotype 1 in French-Canadians (John et al. 1992) and in Danes (Guldberg et al. 1993a). Here we present gene expression data showing that the recombinant mutant enzyme has no measurable residual catalytic activity. More... »

PAGES

171-173

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00209396

DOI

http://dx.doi.org/10.1007/bf00209396

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048116043

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7860062


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213 schema:name Department of Biochemistry and Molecular Biology, University of Bergen, Bergen, Norway
214 rdf:type schema:Organization
 




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