Mammalian Genome

, Volume 9, Issue 12, pp 1036–1041

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

  • Frauke  Leenders
  • Vincent  Dolez
  • Agnès  Begue
  • Gabriele  Möller
  • Johannes Ch.  Gloeckner
  • Yvan  de Launoit
  • Jerzy  Adamski

DOI: 10.1007/s003359900921

Cite this article as:
Leenders, F., Dolez, V., Begue, A. et al. (1998) 9: 1036. doi:10.1007/s003359900921

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.

Copyright information

© Springer-Verlag New York Inc. 1998

Authors and Affiliations

  • Frauke  Leenders
    • 1
  • Vincent  Dolez
    • 1
  • Agnès  Begue
    • 1
  • Gabriele  Möller
    • 2
  • Johannes Ch.  Gloeckner
    • 2
  • Yvan  de Launoit
    • 1
  • Jerzy  Adamski
    • 2
  1. 1.UMR 319, CNRS-Institut Pasteur de Lille, Institut de Biologie de Lille, 1 rue Calmette, BP 447, 59021 Lille Cedex, FranceFR
  2. 2.GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstaedter Landstr. 1, D-85764 Neuherberg, GermanyDE