cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-Hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26. 3-3q28: A free left Alu arm is inserted in the 3[prime] noncoding region

Journal Article · Sat Jan 01 04:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1013· OSTI ID:6860487

Hoefler, G; Forstner, M; Hulla, W; Hiden, M; Krisper, P; Kenner, L; Zechner, R ^[1]; McGuinness, M C ^[2]; Ried, T; Lengauer, C ^[3]

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1. Univ. of Graz (Austria)
2. Johns Hopkins School of Medicine, Baltimore, MD (United States)
3. Univ. of Heidelberg (Germany); and others

Enoyl-CoA hydratase:3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme is one of the four enzymes of the peroxisomal, [beta]-oxidation pathway. Here, the authors report the full-length human cDNA sequence and the localization of the corresponding gene on chromosome 3q26.3-3q28. The cDNA sequence spans 3779 nucleotides with an open reading frame of 2169 nucleotides. The tripeptide SKL at the carboxy terminus, known to serve as a peroxisomal targeting signal, is present. DNA sequence comparison of the coding region showed an 80% homology between human and rat bifunctional enzyme cDNA. The 3[prime] noncoding sequence contains 117 nucleotides homologous to an Alu repeat. Based on sequence comparison, they propose that these nucleotides are a free left Alu arm with 86% homology to the Alu-J family. RNA analysis shows one band with highest intensity in liver and kidney. This cDNA will allow in-depth studies of molecular defects in patients with defective peroxisomal bifunctional enzyme. Moreover, it will also provide a means for studying the regulation of peroxisomal [beta]-oxidation in humans. 33 refs., 5 figs.

• OSTI ID: 6860487
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 19:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOTECHNOLOGY
CHROMOSOMES
CLONING
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
ENZYMES
GENES
GENETIC ENGINEERING
GENETIC MAPPING
HUMAN CHROMOSOME 3
HUMAN CHROMOSOMES
HYBRIDIZATION
MAPPING
NUCLEIC ACID HYBRIDIZATION
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS