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1
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.脑肝肾（泽尔韦格）综合征及其他伴有过氧化物酶体功能普遍受损的遗传性疾病中的遗传异质性。一项采用互补分析的研究。
J Clin Invest. 1988 Jun;81(6):1710-5. doi: 10.1172/JCI113510.
2
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.泽尔韦格综合征与其他以过氧化物酶体组装受损为特征的过氧化物酶体疾病之间的遗传关系。
Prog Clin Biol Res. 1990;321:545-58.
3
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.脑肝肾综合征、婴儿型Refsum病和点状软骨发育不良的遗传关系。
N Engl J Med. 1986 Mar 20;314(12):787-8. doi: 10.1056/NEJM198603203141216.
4
Peroxisomal disorders: clinical commentary and future prospects.过氧化物酶体疾病：临床评论与未来展望。
Am J Med Genet. 1988 Jul;30(3):771-92. doi: 10.1002/ajmg.1320300311.
5
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.植烷酸α-氧化及经典型雷夫叙姆病和过氧化物酶体疾病的互补分析
Hum Genet. 1989 Jan;81(2):175-81. doi: 10.1007/BF00293897.
6
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.在过氧化物酶体生物发生障碍患者中鉴定出三种不同的过氧化物酶体蛋白导入缺陷。
J Cell Sci. 1995 May;108 ( Pt 5):1817-29. doi: 10.1242/jcs.108.5.1817.
7
Aberration in de novo ether lipid biosynthesis in peroxisomal disorders.过氧化物酶体疾病中从头合成醚脂的异常。
Prog Clin Biol Res. 1988;282:139-50.
8
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.过氧化物酶体3-酮脂酰辅酶A硫解酶在齐-韦二氏综合征和点状软骨发育不良中的异常亚细胞定位。
Pediatr Res. 1990 Mar;27(3):304-10. doi: 10.1203/00006450-199003000-00023.
9
Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.动物细胞突变体代表了过氧化物酶体缺陷型 Zellweger 综合征的两个互补群。
J Clin Invest. 1992 Nov;90(5):1864-70. doi: 10.1172/JCI116063.
10
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.更多关于泽尔韦格综合征、婴儿型雷夫叙姆病和点状软骨发育不良的内容。
N Engl J Med. 1986 Sep 18;315(12):766-7. doi: 10.1056/NEJM198609183151218.

引用本文的文献

1
DPPN-SVM: Computational Identification of Mis-Localized Proteins in Cancers by Integrating Differential Gene Expressions With Dynamic Protein-Protein Interaction Networks.DPPN-SVM：通过整合差异基因表达与动态蛋白质-蛋白质相互作用网络对癌症中定位错误的蛋白质进行计算识别
Front Genet. 2020 Oct 23;11:600454. doi: 10.3389/fgene.2020.600454. eCollection 2020.
2
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.胎儿磁共振成像在脑肝肾综合征产前诊断中的作用
AJNR Am J Neuroradiol. 2006 Feb;27(2):333-6.
3
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.NDUFS6突变是致死性新生儿线粒体复合体I缺乏症的一种新病因。
J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683.
4
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.过氧化物酶体生物发生障碍的临床、生化和遗传学方面以及神经元迁移
J Inherit Metab Dis. 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743.
5
Mucolipidosis IV consists of one complementation group.黏脂贮积症IV型由一个互补群组成。
Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8562-6. doi: 10.1073/pnas.96.15.8562.
6
Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).过氧化物酶体生物发生障碍：互补分析显示存在遗传异质性，其中一组（PEX1缺乏）明显过度。
J Inherit Metab Dis. 1999 May;22(3):314-8. doi: 10.1023/a:1005504104541.
7
Peroxisomal disorders: clinical, biochemical, and molecular aspects.过氧化物酶体疾病：临床、生化及分子层面
Neurochem Res. 1999 Apr;24(4):565-80. doi: 10.1023/a:1022592014988.
8
Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.过氧化物酶体生物发生障碍互补组3中的表型-基因型关系。
Am J Hum Genet. 1998 Nov;63(5):1294-306. doi: 10.1086/302103.
9
The surprising complexity of peroxisome biogenesis.过氧化物酶体生物发生的惊人复杂性。
Plant Mol Biol. 1998 Sep;38(1-2):163-89.
10
Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects.过氧化物酶体β-氧化紊乱患者的遗传异质性：基于降植烷酸β-氧化的互补研究提示不同的酶缺陷
J Inherit Metab Dis. 1997 Jul;20(3):437-40. doi: 10.1023/a:1005323221660.

本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Degradation of cholesterol to propionic acid by rat liver peroxisomes.大鼠肝脏过氧化物酶体将胆固醇降解为丙酸。
Biochem Biophys Res Commun. 1982 Aug;107(3):834-41. doi: 10.1016/0006-291x(82)90598-8.
3
Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway.通过酰基二羟基丙酮磷酸途径在过氧化物酶体中进行甘油olipid生物合成。 （注：原文中“甘油olipid”可能有误，推测应为“甘油脂质” glycerolipid ）
Ann N Y Acad Sci. 1982;386:170-82. doi: 10.1111/j.1749-6632.1982.tb21415.x.
4
Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.脑肝肾（泽韦格）综合征中缩醛磷脂缺乏症。
Eur J Pediatr. 1984 Apr;142(1):10-5. doi: 10.1007/BF00442582.
5
Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.齐-韦二氏（脑-肝-肾）综合征患者中酰基辅酶A：磷酸二羟丙酮酰基转移酶缺乏症
Biochem Biophys Res Commun. 1984 Apr 16;120(1):179-84. doi: 10.1016/0006-291x(84)91430-x.
6
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.二十四烷酸在过氧化物酶体中被氧化：对泽尔韦格脑肝肾综合征和肾上腺脑白质营养不良的影响。
Proc Natl Acad Sci U S A. 1984 Jul;81(13):4203-7. doi: 10.1073/pnas.81.13.4203.
7
Peroxisomes (microbodies) in cell pathology.细胞病理学中的过氧化物酶体（微体）
Int Rev Exp Pathol. 1984;26:45-84.
8
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.综述：齐尔韦格脑肝肾综合征，形态学和代谢方面。
Am J Med Genet. 1983 Dec;16(4):503-17. doi: 10.1002/ajmg.1320160409.
9
Cell-free synthesis of the enzymes of peroxisomal beta-oxidation.过氧化物酶体β-氧化酶的无细胞合成
Biochem Biophys Res Commun. 1982 Mar 30;105(2):639-46. doi: 10.1016/0006-291x(82)91482-6.
10
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.过氧化物酶体酶活性及过氧化氢酶在齐-韦二氏综合征中的细胞内分布
Biochem Biophys Res Commun. 1984 Sep 28;123(3):1054-61. doi: 10.1016/s0006-291x(84)80240-5.

脑肝肾（泽尔韦格）综合征及其他伴有过氧化物酶体功能普遍受损的遗传性疾病中的遗传异质性。一项采用互补分析的研究。

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

作者信息

Brul S, Westerveld A, Strijland A, Wanders R J, Schram A W, Heymans H S, Schutgens R B, van den Bosch H, Tager J M

机构信息

Laboratory of Biochemistry, University of Amsterdam, The Netherlands.

出版信息

J Clin Invest. 1988 Jun;81(6):1710-5. doi: 10.1172/JCI113510.

DOI:10.1172/JCI113510
PMID:2454948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC442615/
Abstract

We have used complementation analysis after somatic cell fusion to investigate the genetic relationships among various genetic diseases in humans in which there is a simultaneous impairment of several peroxisomal functions. The activity of acyl-coenzyme A:dihydroxyacetonephosphate acyltransferase, which is deficient in these diseases, was used as an index of complementation. In some of these diseases peroxisomes are deficient and catalase is present in the cytosol, so that the appearance of particle-bound catalase could be used as an index of complementation. The cell lines studied can be divided into at least five complementation groups. Group 1 is represented by a cell line from a patient with the rhizomelic form of chondrodysplasia punctata. Group 2 consists of cell lines from four patients with the Zellweger syndrome, a patient with the infantile form of Refsum disease and a patient with hyperpipecolic acidemia. Group 3 comprises one cel line from a patient with the Zellweger syndrome, group 4 one cell line from a patient with the neonatal form of adrenoleukodystrophy, and group 5 one cell line from a patient with the Zellweger syndrome. We conclude that at least five genes are required for the assembly of a functional peroxisome.

摘要

我们利用体细胞融合后的互补分析，来研究人类多种遗传疾病之间的遗传关系，这些疾病中几种过氧化物酶体功能同时受损。在这些疾病中缺乏的酰基辅酶A：二羟丙酮磷酸酰基转移酶的活性，被用作互补的指标。在其中一些疾病中，过氧化物酶体缺乏，过氧化氢酶存在于细胞质中，因此颗粒结合过氧化氢酶的出现可作为互补的指标。所研究的细胞系可分为至少五个互补组。第1组由点状软骨发育不良的根茎型患者的细胞系代表。第2组由来自四名齐韦格综合征患者、一名婴儿型Refsum病患者和一名高哌啶酸血症患者的细胞系组成。第3组包括一名齐韦格综合征患者的一个细胞系，第4组包括一名新生儿型肾上腺脑白质营养不良患者的一个细胞系，第5组包括一名齐韦格综合征患者的一个细胞系。我们得出结论，功能性过氧化物酶体的组装至少需要五个基因。