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次黄嘌呤磷酸核糖转移酶:来自正常和莱施-奈恩溶血产物的二维凝胶电泳

Hypoxanthine phosphoribosyltransferase: two-dimensional gels from normal and Lesch-Nyhan hemolyzates.

作者信息

Ghangas G S, Milman G

出版信息

Science. 1977 Jun 3;196(4294):1119-20. doi: 10.1126/science.870972.

DOI:10.1126/science.870972
PMID:870972
Abstract

Immunoprecipitated hypoxanthine phosphoribosyltransferase (HPRT) from hemolyzates displays two major spots after two-dimensional polyacrylamide gel electrophoresis. HeLa cells or human lymphoblasts display only a single HPRT spot located at the same position as the most basic of the hemolyzate HPRT spots. This suggests that the most basic spot is the form initially synthesized, and the more acidic hemolyzate HPRT spot (a pseudoisozyme) is probably derived from the first by an age-related modification (for example, deamidation). The HPRT pattern of the hemolyzate from a Lesch-Nyhan patient was shifted to a more basic isoelectric pH, implying the mutation of a structural gene.

摘要

从溶血产物中免疫沉淀的次黄嘌呤磷酸核糖转移酶(HPRT)在二维聚丙烯酰胺凝胶电泳后显示出两个主要斑点。HeLa细胞或人淋巴母细胞仅显示一个HPRT斑点,其位置与溶血产物HPRT斑点中最碱性的斑点相同。这表明最碱性的斑点是最初合成的形式,而溶血产物中酸性更强的HPRT斑点(一种假同功酶)可能是由第一种形式通过与年龄相关的修饰(例如脱酰胺作用)衍生而来。莱施-奈恩病患者溶血产物的HPRT模式向更碱性的等电pH值偏移,这意味着结构基因发生了突变。

相似文献

1
Hypoxanthine phosphoribosyltransferase: two-dimensional gels from normal and Lesch-Nyhan hemolyzates.次黄嘌呤磷酸核糖转移酶:来自正常和莱施-奈恩溶血产物的二维凝胶电泳
Science. 1977 Jun 3;196(4294):1119-20. doi: 10.1126/science.870972.
2
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.莱施-奈恩综合征患者次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏的分子基础。
J Clin Invest. 1983 May;71(5):1331-5. doi: 10.1172/jci110884.
3
Study of immunoreactive material in patients with deficient HPRT activity.
Adv Exp Med Biol. 1977;76A:361-9. doi: 10.1007/978-1-4613-4223-6_46.
4
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.莱施-奈恩综合征患者红细胞中次黄嘌呤磷酸核糖基转移酶交叉反应物质的放射免疫测定。
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4147-50. doi: 10.1073/pnas.72.10.4147.
5
HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.次黄嘌呤鸟嘌呤磷酸核糖转移酶结构基因突变在莱施-奈恩综合征中的表现:抗原活性及酶缺陷的回复所提示
Hum Genet. 1981;57(2):185-8. doi: 10.1007/BF00282019.
6
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.在莱施-奈恩杂合子中,针对缺乏次黄嘌呤磷酸核糖基转移酶(HPRT)的血细胞的选择发生在多能干细胞水平。
Hum Genet. 1995 Dec;96(6):674-80. doi: 10.1007/BF00210298.
7
Analysis of HeLa cell hypoxanthine phosphoribosyltransferase mutants and revertants by two-dimensional polyacrylamide gel electrophoresis: evidence for silent gene activation.通过二维聚丙烯酰胺凝胶电泳分析海拉细胞次黄嘌呤磷酸核糖转移酶突变体和回复体:沉默基因激活的证据
Proc Natl Acad Sci U S A. 1976 Dec;73(12):4589-93. doi: 10.1073/pnas.73.12.4589.
8
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.一名患有莱施-奈恩综合征的女性与其临床症状正常的同卵双胞胎。
Mol Genet Metab. 2005 May;85(1):70-7. doi: 10.1016/j.ymgme.2004.11.009. Epub 2005 Feb 17.
9
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).人类次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶:从一名莱施 - 奈恩综合征患者(HPRTMidland)分离出的cDNA克隆中的单核苷酸替换。
Gene. 1988 Aug 15;68(1):85-91. doi: 10.1016/0378-1119(88)90601-4.
10
[Lesch-Nyhan disease studied in intact fibroblasts].[在完整成纤维细胞中研究的莱施-奈恩病]
An Esp Pediatr. 1983 May;18(5):394-8.

引用本文的文献

1
Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.人红细胞和培养成纤维细胞中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶亚基组成的表征
Biochem Genet. 1980 Feb;18(1-2):1-19. doi: 10.1007/BF00504356.
2
Assignment of genes to the human X chromosome by the two-dimensional electrophoretic analysis of total cell proteins from rodent-human somatic cell hybrids.通过对啮齿动物-人类体细胞杂种的全细胞蛋白质进行二维电泳分析,将基因定位到人类X染色体上。
Am J Hum Genet. 1981 Jul;33(4):495-512.
3
Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme.
人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶:该酶正常及五种突变形式的研究
Trans Am Clin Climatol Assoc. 1983;94:91-9.
4
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。源自该酶缺乏症患者的淋巴母细胞中结构变异体的证明。
J Clin Invest. 1982 Mar;69(3):706-15. doi: 10.1172/jci110499.
5
Protein variations associated with Lesch-Nyhan syndrome.与莱施-奈恩综合征相关的蛋白质变异。
Proc Natl Acad Sci U S A. 1981 Oct;78(10):6471-5. doi: 10.1073/pnas.78.10.6471.
6
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.莱施-奈恩综合征患者次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏的分子基础。
J Clin Invest. 1983 May;71(5):1331-5. doi: 10.1172/jci110884.
7
Amplification of hypoxanthine-guanine phosphoribosyltransferase genes in chromosome-mediated gene transferents.染色体介导的基因转移体中次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶基因的扩增
Mol Cell Biol. 1984 Apr;4(4):618-24. doi: 10.1128/mcb.4.4.618-624.1984.
8
Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees.通过对两个家系的血清、红细胞和成纤维细胞进行二维电泳分析出27种蛋白质多态性。
Am J Hum Genet. 1985 Sep;37(5):898-911.
9
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶(HPRT Ann Arbor)突变基因中单个核苷酸变化的鉴定。
Hum Genet. 1988 May;79(1):39-43. doi: 10.1007/BF00291707.