TY - JOUR
T1 - cDNA Cloning of the Human Peroxisomal Enoyl-CoA Hydratase
T2 - 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
AU - Hoefler, Gerald
AU - Forstner, Michael
AU - McGuinness, Martina C.
AU - Hulla, Wolfgang
AU - Hiden, Michaela
AU - Krisper, Peter
AU - Kenner, Lukas
AU - Ried, Thomas
AU - Lengauer, Christoph
AU - Zechner, Rudolf
AU - Moser, Hugo W.
AU - Chen, Grace L.
PY - 1994/1/1
Y1 - 1994/1/1
N2 - Enoyl-CoA hydratase:3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme is one of the four enzymes of the peroxisomal β-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 β-oxidation in humans.
AB - Enoyl-CoA hydratase:3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme is one of the four enzymes of the peroxisomal β-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 β-oxidation in humans.
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U2 - 10.1006/geno.1994.1013
DO - 10.1006/geno.1994.1013
M3 - Article
C2 - 8188243
AN - SCOPUS:0028006457
SN - 0888-7543
VL - 19
SP - 60
EP - 67
JO - Genomics
JF - Genomics
IS - 1
ER -