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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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17-Hydroxysteroid Dehydrogenases / genetics*
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Base Sequence
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DNA / chemistry
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DNA / genetics
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Enoyl-CoA Hydratase*
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Exons
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Genes / genetics*
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Humans
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Hydro-Lyases
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Introns
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Luciferases / genetics
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Luciferases / metabolism
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Molecular Sequence Data
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Multienzyme Complexes*
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Peroxisomal Multifunctional Protein-2
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Promoter Regions, Genetic / genetics
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Recombinant Fusion Proteins / genetics
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Tumor Cells, Cultured / cytology
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Tumor Cells, Cultured / enzymology
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Tumor Cells, Cultured / metabolism
Substances
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Multienzyme Complexes
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Recombinant Fusion Proteins
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DNA
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17-Hydroxysteroid Dehydrogenases
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Luciferases
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Hydro-Lyases
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Peroxisomal Multifunctional Protein-2
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HSD17B4 protein, human
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Enoyl-CoA Hydratase
Associated data
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GENBANK/AF057720
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GENBANK/AF057721
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GENBANK/AF057722
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GENBANK/AF057723
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GENBANK/AF057724
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GENBANK/AF057725
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GENBANK/AF057726
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GENBANK/AF057727
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GENBANK/AF057728
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GENBANK/AF057729
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GENBANK/AF057730
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GENBANK/AF057731
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GENBANK/AF057732
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GENBANK/AF057733
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GENBANK/AF057734
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GENBANK/AF057735
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GENBANK/AF057736
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GENBANK/AF057737
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GENBANK/AF057738
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GENBANK/AF057739
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GENBANK/AF057740