title: Structure of the gene for the human 17beta-hydroxysteroid dehydrogenase type IV.
abstract: The 17beta-hydroxysteroid dehydrogenase type IV (17beta-HSD IV) is a multifunctional enzyme that is localized in the peroxisomes. The N-terminal part has dehydrogenase activity, the central part has hydratase activity, and the carboxy-terminal part is responsible for sterol transport. Recent observations of mutations in the human 17beta-HSD IV cDNA leading to a severe peroxisomal disorder motivated us to define the genomic organization of this gene mapped to Chromosome (Chr) 5q2. We show here that this gene consist of 24 exons and 23 introns with classical intron-exon junctions spanning more than 100 kbp. By mapping the regulatory region of this gene, we have shown that the first 400 bp upstream of the transcription start site are sufficient to activate transcription. The data presented here will permit sequence analysis of patients with peroxisomal disorders.
authors.affiliation: UMR 319, CNRS-Institut Pasteur de Lille, Institut de Biologie de Lille, 1 rue Calmette, BP 447, 59021 Lille Cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Leenders
authors.forename: V
authors.initials: V
authors.lastname: Dolez
authors.forename: A
authors.initials: A
authors.lastname: Begue
authors.forename: G
authors.initials: G
authors.lastname: Möller
authors.forename: J C
authors.initials: JC
authors.lastname: Gloeckner
authors.forename: Y
authors.initials: Y
authors.lastname: de Launoit
authors.forename: J
authors.initials: J
authors.lastname: Adamski
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004746:Enoyl-CoA Hydratase; D005091:Exons; D005796:Genes / Q000235:genetics*; D006801:Humans; D006836:Hydro-Lyases; D007438:Introns; D008156:Luciferases / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes; D064029:Peroxisomal Multifunctional Protein-2; D011401:Promoter Regions, Genetic / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000235:genetics; D014407:Tumor Cells, Cultured / Q000166:cytology / Q000201:enzymology / Q000378:metabolism
chemical_list: D009097:Multienzyme Complexes; D011993:Recombinant Fusion Proteins; D004247:DNA; D015067:17-Hydroxysteroid Dehydrogenases; D008156:Luciferases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; D004746:Enoyl-CoA Hydratase