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人类中缺乏古洛糖酸内酯氧化酶（抗坏血酸生物合成的关键酶）的分子基础。

Molecular basis for the deficiency in humans of gulonolactone oxidase, a key enzyme for ascorbic acid biosynthesis.

作者信息

Nishikimi M, Yagi K

机构信息

Institute of Applied Biochemistry, Yagi Memorial Park, Gifu, Japan.

出版信息

Am J Clin Nutr. 1991 Dec;54(6 Suppl):1203S-1208S. doi: 10.1093/ajcn/54.6.1203s.

DOI:10.1093/ajcn/54.6.1203s
PMID:1962571
Abstract

The inability of humans to synthesize L-ascorbic acid is known to be due to a lack of L-gulono-gamma-lactone oxidase, an enzyme that is required for the biosynthesis of this vitamin. Isolation of a cDNA for rat L-gulono-gamma-lactone oxidase allowed us to study the basic defect underlying this deficiency at the gene level and led to isolation of a human genomic clone related to L-gulono-gamma-lactone oxidase as well as three overlapping clones covering the entire coding region of the rat L-gulono-gamma-lactone oxidase cDNA. Sequence analysis study indicated that the human L-gulono-gamma-lactone oxidase gene has accumulated a large number of mutations since it stopped being active and that it now exists as a pseudogene in the human genome.

摘要

已知人类无法合成L-抗坏血酸是由于缺乏L-古洛糖酸-γ-内酯氧化酶，这种酶是该维生素生物合成所必需的。大鼠L-古洛糖酸-γ-内酯氧化酶cDNA的分离使我们能够在基因水平上研究这种缺陷的根本原因，并导致分离出一个与L-古洛糖酸-γ-内酯氧化酶相关的人类基因组克隆，以及三个覆盖大鼠L-古洛糖酸-γ-内酯氧化酶cDNA整个编码区的重叠克隆。序列分析研究表明，人类L-古洛糖酸-γ-内酯氧化酶基因自停止活跃以来积累了大量突变，现在在人类基因组中以假基因的形式存在。

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1
Molecular basis for the deficiency in humans of gulonolactone oxidase, a key enzyme for ascorbic acid biosynthesis.人类中缺乏古洛糖酸内酯氧化酶（抗坏血酸生物合成的关键酶）的分子基础。
Am J Clin Nutr. 1991 Dec;54(6 Suppl):1203S-1208S. doi: 10.1093/ajcn/54.6.1203s.
2
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Random nucleotide substitutions in primate nonfunctional gene for L-gulono-gamma-lactone oxidase, the missing enzyme in L-ascorbic acid biosynthesis.灵长类动物中L-古洛糖酸-γ-内酯氧化酶（L-抗坏血酸生物合成中缺失的酶）非功能性基因中的随机核苷酸替换。
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Expression of rat gene for L-gulono-gamma-lactone oxidase, the key enzyme of L-ascorbic acid biosynthesis, in guinea pig cells and in teleost fish rainbow trout (Oncorhynchus mykiss).大鼠L-古洛糖酸-γ-内酯氧化酶基因（L-抗坏血酸生物合成的关键酶）在豚鼠细胞和硬骨鱼虹鳟（Oncorhynchus mykiss）中的表达。
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Expression in monkey cells of the missing enzyme in L-ascorbic acid biosynthesis, L-gulono-gamma-lactone oxidase.L-抗坏血酸生物合成中缺失的酶L-古洛糖酸-γ-内酯氧化酶在猴细胞中的表达。
Biochem Biophys Res Commun. 1991 Jun 14;177(2):659-63. doi: 10.1016/0006-291x(91)91839-5.

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