Hoefler G, Forstner M, McGuinness M C, Hulla W, Hiden M, Krisper P, Kenner L, Ried T, Lengauer C, Zechner R
Institute of Pathology, University of Graz, Austria.
Genomics. 1994 Jan 1;19(1):60-7. doi: 10.1006/geno.1994.1013.
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.
烯酰辅酶A水合酶：3-羟酰基辅酶A脱氢酶双功能酶是过氧化物酶体β-氧化途径的四种酶之一。在此，我们报道了全长人类cDNA序列以及相应基因在染色体3q26.3 - 3q28上的定位。该cDNA序列跨度为3779个核苷酸，开放阅读框为2169个核苷酸。在羧基末端存在已知作为过氧化物酶体靶向信号的三肽SKL。编码区的DNA序列比较显示，人类和大鼠双功能酶cDNA之间具有80%的同源性。3'非编码序列包含117个与Alu重复序列同源的核苷酸。基于序列比较，我们认为这些核苷酸是一个游离的左Alu臂，与Alu-J家族具有86%的同源性。RNA分析显示在肝脏和肾脏中有一条强度最高的条带。该cDNA将有助于深入研究过氧化物酶体双功能酶缺陷患者的分子缺陷。此外，它还将为研究人类过氧化物酶体β-氧化的调控提供一种手段。
