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Selected Publication:
Hoefler, G; Forstner, M; McGuinness, MC; Hulla, W; Hiden, M; Krisper, P; Kenner, L; Ried, T; Lengauer, C; Zechner, R.
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' noncoding region.
GENOMICS. 1994; 19(1): 60-67.
Doi: 10.1006%2Fgeno.1994.1013
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Höfler Gerald
- Co-authors Med Uni Graz
- Kenner Lukas
- Krisper Peter
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- Abstract:
- Enoyl-CoA hydratase:3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme is one of the four enzymes of the peroxisomal beta-oxidation pathway. Here, we 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' noncoding sequence contains 117 nucleotides homologous to an Alu repeat. Based on sequence comparison, we 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.
- Find related publications in this database (using NLM MeSH Indexing)
- 3-Hydroxyacyl CoA Dehydrogenases - genetics
- Amino Acid Sequence - genetics
- Animals - genetics
- Base Sequence - genetics
- Blotting, Northern - genetics
- Chromosome Mapping - genetics
- Chromosomes, Human, Pair 3 - genetics
- DNA, Complementary - genetics
- Enoyl-CoA Hydratase - genetics
- Genes - genetics
- Humans - genetics
- Introns - genetics
- Isomerases - genetics
- Kidney - enzymology
- Liver - enzymology
- Microbodies - enzymology
- Molecular Sequence Data - enzymology
- Multienzyme Complexes - genetics
- Open Reading Frames - genetics
- Organ Specificity - genetics
- Rats - genetics
- Repetitive Sequences, Nucleic Acid - genetics
- Sequence Alignment - genetics
- Sequence Homology, Amino Acid - genetics
- Species Specificity - genetics