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小鼠中链酰基辅酶A脱氢酶cDNA的分子克隆与特性分析

Molecular cloning and characterization of the mouse medium-chain acyl-CoA dehydrogenase cDNA.

作者信息

Tolwani R J, Farmer S C, Wood P A

机构信息

Department of Comparative Medicine, School of Medicine, University of Alabama at Birmingham 35294-0019.

出版信息

Genomics. 1994 Sep 1;23(1):247-9. doi: 10.1006/geno.1994.1486.

DOI:10.1006/geno.1994.1486
PMID:7829081
Abstract

Medium-chain acyl-CoA dehydrogenase (MCAD) is one of the three straight-chain length-specific dehydrogenases involved in the first step of fatty acid oxidation. Inherited defects of acyl-CoA dehydrogenases occur in humans, and MCAD deficiency is the most common. We have cloned the coding and 3' untranslated sequence of mouse MCAD cDNA. The mouse MCAD cDNA coding region is 1263 bp long with a 3' untranslated region of 576 bp and encodes a 421 amino acid precursor protein. Comparing the nucleotide and deduced amino acid sequences of the mouse MCAD cDNA to rat and human MCAD cDNAs reveals considerable similarity between species. Amino acid residues where substitutions result in human MCAD deficiency are conserved in the mouse. Amino acid residues involved in important enzymatic functions are also conserved.

摘要

中链酰基辅酶A脱氢酶(MCAD)是参与脂肪酸氧化第一步的三种直链长度特异性脱氢酶之一。酰基辅酶A脱氢酶的遗传性缺陷在人类中存在,而MCAD缺乏症最为常见。我们克隆了小鼠MCAD cDNA的编码序列和3'非翻译序列。小鼠MCAD cDNA编码区长度为1263 bp,3'非翻译区为576 bp,编码一个421个氨基酸的前体蛋白。将小鼠MCAD cDNA的核苷酸和推导的氨基酸序列与大鼠和人类MCAD cDNA进行比较,发现物种间有相当大的相似性。导致人类MCAD缺乏症的氨基酸残基在小鼠中是保守的。参与重要酶功能的氨基酸残基也保守。

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