TY - JOUR
AU - Gerbert A. Jansen, Eveline M. Hogenhout, Sacha Ferdinandusse, Hans R. Waterham, Rob Ofman, Cornelis Jakobs, Ola H. Skjeldal, Ronald J.A. Wanders
AB - Refsum’s disease (RD) is an inherited neurological syndrome biochemically characterized by the accumulation of phytanic acid in plasma and tissues. Patients with RD are unable to degrade phytanic acid due to a deficient activity of phytanoyl-CoA hydroxyl­ase (PhyH), a peroxisomal enzyme catalysing the first step of phytanic acid α-oxidation. To enable mutation analysis of RD at the genome level, we have elucidated the genomic organization of the PHYH gene. The gene is ~21 kb and contains nine exons and eight introns. Mutation analysis of PHYH cDNA from 22 patients with RD revealed 14 different missense mutations, a 3 bp insertion, and a 1 bp deletion, which were all confirmed at the genome level. A 111 bp deletion identified in the PHYH cDNA of several patients with RD was due to either one of two different mutations in the same splice acceptor site, which result in skipping of exon 3. Six mutations, including a large in-frame deletion and five missense mutations, were expressed in the yeast Saccharomyces cerevisiae to study their effect on PhyH activity. The results showed that all these mutations lead to an enzymatically inactive PhyH protein. Received 10 January 2000; Revised and Accepted 13 March 2000. « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (2000) 9 (8): 1195-1200. doi: 10.1093/hmg/9.8.1195 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Report Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Jansen, G. A. Articles by Wanders, R. J. 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TI - Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum’s disease
JF - Human Molecular Genetics
DO - 10.1093/hmg/9.8.1195
DA - 2000-05-01
UR - https://www.deepdyve.com/lp/oxford-university-press/human-phytanoyl-coa-hydroxylase-resolution-of-the-gene-structure-and-koEoLRdeM3
SP - 1195
VL - 9
IS - 8
DP - DeepDyve
ER -