title: cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region.
abstract: Enoyl-CoA hydratase:3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme is one of the four enzymes of the peroxisomal beta-oxidation pathway. Here, we report the full-length human cDNA sequence and the localization of the corresponding gene on chromosome 3q26.3-3q28. The cDNA sequence spans 3779 nucleotides with an open reading frame of 2169 nucleotides. The tripeptide SKL at the carboxy terminus, known to serve as a peroxisomal targeting signal, is present. DNA sequence comparison of the coding region showed an 80% homology between human and rat bifunctional enzyme cDNA. The 3' noncoding sequence contains 117 nucleotides homologous to an Alu repeat. Based on sequence comparison, we propose that these nucleotides are a free left Alu arm with 86% homology to the Alu-J family. RNA analysis shows one band with highest intensity in liver and kidney. This cDNA will allow in-depth studies of molecular defects in patients with defective peroxisomal bifunctional enzyme. Moreover, it will also provide a means for studying the regulation of peroxisomal beta-oxidation in humans.
authors.affiliation: Institute of Pathology, University of Graz, Austria.
authors.forename: G
authors.initials: G
authors.lastname: Hoefler
authors.forename: M
authors.initials: M
authors.lastname: Forstner
authors.forename: M C
authors.initials: MC
authors.lastname: McGuinness
authors.forename: W
authors.initials: W
authors.lastname: Hulla
authors.forename: M
authors.initials: M
authors.lastname: Hiden
authors.forename: P
authors.initials: P
authors.lastname: Krisper
authors.forename: L
authors.initials: L
authors.lastname: Kenner
authors.forename: T
authors.initials: T
authors.lastname: Ried
authors.forename: C
authors.initials: C
authors.lastname: Lengauer
authors.forename: R
authors.initials: R
authors.lastname: Zechner
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D018076:DNA, Complementary / Q000235:genetics; D004746:Enoyl-CoA Hydratase / Q000235:genetics*; D005796:Genes; D006801:Humans; D007438:Introns; D007535:Isomerases / Q000235:genetics*; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008830:Microbodies / Q000201:enzymology; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D016366:Open Reading Frames; D009928:Organ Specificity; D063994:Peroxisomal Bifunctional Enzyme; D051381:Rats / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: D018076:DNA, Complementary; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases