title: Human mitochondrial enoyl-CoA hydratase gene (ECHS1): structural organization and assignment to chromosome 10q26.2-q26.3.
abstract: The second step in mitochondrial fatty acid beta-oxidation is catalyzed by short chain enoyl-CoA hydratase (ECHS1; EC 4.2.1.17). Inherited disorders of this pathway of energy metabolism present clinical and laboratory features resembling sudden infant death syndrome and Reye-like syndrome. To investigate the role of ECHS1 further, the gene structure was analyzed and its chromosomal locus determined. A fragment of rat liver ECHS1 cDNA was employed for isolation and characterization of two overlapping genomic clones encompassing the entire human ECHS1 gene. The gene, approximately 11 kb, is composed of eight exons, with exons I and VIII containing the 5'- and 3'-untranslated regions, respectively. Two major transcription start sites, located 62 and 63 bp upstream of the translation initiation codon, were mapped by primer extension analysis. The immediate 5'-flanking region of the ECHS1 gene is GC-rich and contains several copies of the SP1 binding motive but no typical TATA or CAAT boxes are apparent. Alu repeat elements have been identified within the region -1052/-770 relative to the cap site and in intron 7. The human ECHS1 gene locus was assigned to chromosome 10q26.2-q26.3 by fluorescence in situ hybridization.
authors.affiliation: Medical Faculty, Universität Köln, Joseph-Stelzmann-Strasse 52, Cologne, D-50931, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Janssen
authors.forename: E M
authors.initials: EM
authors.lastname: Davis
authors.forename: M M
authors.initials: MM
authors.lastname: Le Beau
authors.forename: W
authors.initials: W
authors.lastname: Stoffel
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003001:Cloning, Molecular; D004746:Enoyl-CoA Hydratase / Q000235:genetics*; D006801:Humans; D008928:Mitochondria / Q000201:enzymology; D008969:Molecular Sequence Data; D051381:Rats; D017421:Sequence Analysis
chemical_list: D004746:Enoyl-CoA Hydratase