Structure of the gene for the human 17β-hydroxysteroid dehydrogenase type IV
| Autor: | Dolez, Jerzy Adamski, Leenders F, Agnès Begue, Gloeckner Jc, de Launoit Y, Gabriele Möller |
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| Rok vydání: | 1998 |
| Předmět: |
17-Hydroxysteroid Dehydrogenases
Recombinant Fusion Proteins Molecular Sequence Data Biology Exon Multienzyme Complexes Transcription (biology) Complementary DNA Tumor Cells Cultured Genetics Humans Luciferases Peroxisomal Multifunctional Protein-2 Promoter Regions Genetic Enoyl-CoA Hydratase Gene Hydro-Lyases Genomic organization Base Sequence Intron DNA Exons Enoyl-CoA hydratase Molecular biology Sterol transport Introns Genes |
| Zdroj: | Mammalian Genome. 9:1036-1041 |
| ISSN: | 1432-1777 0938-8990 |
| DOI: | 10.1007/s003359900921 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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