Mammalian Genome

, Volume 9, Issue 12, pp 1036-1041

First online:

Structure of the gene for the human 17β-hydroxysteroid dehydrogenase type IV

  • Frauke  LeendersAffiliated withUMR 319, CNRS-Institut Pasteur de Lille, Institut de Biologie de Lille, 1 rue Calmette, BP 447, 59021 Lille Cedex, France
  • , Vincent  DolezAffiliated withUMR 319, CNRS-Institut Pasteur de Lille, Institut de Biologie de Lille, 1 rue Calmette, BP 447, 59021 Lille Cedex, France
  • , Agnès  BegueAffiliated withUMR 319, CNRS-Institut Pasteur de Lille, Institut de Biologie de Lille, 1 rue Calmette, BP 447, 59021 Lille Cedex, France
  • , Gabriele  MöllerAffiliated withGSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstaedter Landstr. 1, D-85764 Neuherberg, Germany
  • , Johannes Ch.  GloecknerAffiliated withGSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstaedter Landstr. 1, D-85764 Neuherberg, Germany
  • , Yvan  de LaunoitAffiliated withUMR 319, CNRS-Institut Pasteur de Lille, Institut de Biologie de Lille, 1 rue Calmette, BP 447, 59021 Lille Cedex, France
  • , Jerzy  AdamskiAffiliated withGSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstaedter Landstr. 1, D-85764 Neuherberg, Germany

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Abstract.

The 17β-hydroxysteroid dehydrogenase type IV (17β-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 17β-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.