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人类与脂鲤科鱼类“阿氏细脂鲤”中二氢蝶啶还原酶的变异：二聚体酶结构的证据

Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.

作者信息

Kuhl P, Olek K, Wardenbach P

出版信息

Hum Genet. 1980;55(1):99-102. doi: 10.1007/BF00329133.

DOI:10.1007/BF00329133
PMID:7450761
Abstract

Genetic evidence for a dimeric structure of dihydropteridine reductase in man and in the fish species "Cheirodon axelrodi" and "Salmo irideus" is presented. A single locus in man and two loci in the fishes examined encode this enzyme. Zymograms revealed two alleles for the locus in man and two alleles for each locus in the fish "Cheirodon axelrodi". The liver homogenate of a patient with dihydropteridine reductase deficiency showed no detectable activity in the gel, while his parents showed the normal electrophoretic phenotype.

摘要

本文提供了人类以及鱼类物种“阿氏细脂鲤”和“虹鳟鱼”中二氢蝶啶还原酶二聚体结构的遗传学证据。人类中的一个单一位点以及所检测鱼类中的两个位点编码这种酶。酶谱显示人类该位点有两个等位基因，“阿氏细脂鲤”中有两个等位基因。一名二氢蝶啶还原酶缺乏症患者的肝脏匀浆在凝胶中未检测到活性，而他的父母表现出正常的电泳表型。

相似文献

1
Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.人类与脂鲤科鱼类“阿氏细脂鲤”中二氢蝶啶还原酶的变异：二聚体酶结构的证据
Hum Genet. 1980;55(1):99-102. doi: 10.1007/BF00329133.
2
Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4.人类醌二氢蝶啶还原酶（QDPR，EC 1.6.5.1）基因定位于4号染色体。
Hum Genet. 1979;53(1):47-9. doi: 10.1007/BF00289450.
3
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.人类二氢蝶啶还原酶缺乏症分子缺陷的异质性
Biochem J. 1981 Sep 15;198(3):677-82. doi: 10.1042/bj1980677.
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Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.智障家庭中部分二氢蝶啶还原酶缺乏症的基因分析。
J Inherit Metab Dis. 1986;9(4):400-1. doi: 10.1007/BF01800494.
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Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.人类二氢蝶啶还原酶：一个cDNA克隆的特征及其在二氢蝶啶还原酶缺乏症患者分析中的应用
Nucleic Acids Res. 1987 Mar 11;15(5):1921-32. doi: 10.1093/nar/15.5.1921.
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Phosphoglucose isomerase isozymes in the characid fish Cheirodon axelrodi: evidence for a spontaneous gene duplication.脂鲤科鱼类阿氏细脂鲤中的磷酸葡萄糖异构酶同工酶：自发基因复制的证据
Comp Biochem Physiol B. 1976;55(2):279-81.
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Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.二氢蝶啶还原酶缺乏症：通过白细胞酶测定进行诊断。
Clin Chim Acta. 1980 Aug 19;105(3):335-42. doi: 10.1016/0009-8981(80)90113-8.
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Probable assignment of the dihydropteridine reductase gene to 4p15.31.
Tohoku J Exp Med. 1990 Jan;160(1):93-4. doi: 10.1620/tjem.160.93.
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Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.通过原位杂交将人类二氢蝶啶还原酶基因定位于4号染色体的p15.3带。
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Purification and physicochemical properties of NADPH-specific dihydropteridine reductase from bovine and human livers.牛肝和人肝中NADPH特异性二氢蝶啶还原酶的纯化及理化性质
J Biochem. 1986 Mar;99(3):635-44. doi: 10.1093/oxfordjournals.jbchem.a135522.

本文引用的文献

1
The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis.通过十二烷基硫酸钠-聚丙烯酰胺凝胶电泳测定分子量的可靠性。
J Biol Chem. 1969 Aug 25;244(16):4406-12.
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Separation of leukocytes from blood and bone marrow. Introduction.从血液和骨髓中分离白细胞。引言。
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The isolation and characterization of dihydropteridine reductase from sheep liver.绵羊肝脏中二氢蝶啶还原酶的分离与鉴定
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4
Phenylketonuria due to a deficiency of dihydropteridine reductase.由于二氢蝶啶还原酶缺乏所致的苯丙酮尿症。
N Engl J Med. 1975 Oct 16;293(16):785-90. doi: 10.1056/NEJM197510162931601.
5
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.二氢蝶啶还原酶缺乏所致高苯丙氨酸血症。对患病婴儿、杂合子的成纤维细胞以及正常羊水细胞中的该酶进行测定。
J Pediatr. 1976 Nov;89(5):763-6. doi: 10.1016/s0022-3476(76)80798-6.
6
Identification of dihydropteridine reductase in human platelets.人血小板中二氢蝶啶还原酶的鉴定。
Blood. 1979 Jan;53(1):116-21.
7
The purification of rat and sheep liver dihydropteridine reductases by affinity chromatography on methotrexate-sepharose.
Anal Biochem. 1978 Feb;84(2):491-503. doi: 10.1016/0003-2697(78)90068-4.
8
A naphthoquinone adsorbent for affinity chromatography of human dihydropteridine reductase.
Eur J Biochem. 1978 Feb 1;83(1):319-24. doi: 10.1111/j.1432-1033.1978.tb12097.x.
9
Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4.人类醌二氢蝶啶还原酶（QDPR，EC 1.6.5.1）基因定位于4号染色体。
Hum Genet. 1979;53(1):47-9. doi: 10.1007/BF00289450.
10
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.由7,8-二氢生物蝶呤合成酶缺乏引起的非典型苯丙酮尿症。
Lancet. 1979 Jan 20;1(8108):131-3. doi: 10.1016/s0140-6736(79)90521-x.