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威尔逊氏病基因在长-伊文斯肉桂色大鼠中表达不足。

Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.

作者信息

Yamaguchi Y, Heiny M E, Shimizu N, Aoki T, Gitlin J D

机构信息

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.

出版信息

Biochem J. 1994 Jul 1;301 ( Pt 1)(Pt 1):1-4. doi: 10.1042/bj3010001.

DOI:10.1042/bj3010001
PMID:8037655
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1137132/
Abstract

Long-Evans Cinnamon rats develop a necrotizing hepatitis characterized by excessive hepatic copper accumulation, defective holoceruloplasmin biosynthesis and impaired biliary copper excretion. To elucidate the molecular basis of this defect, a cDNA clone encoding the rat Wilson disease gene was isolated and used to examine gene expression in selected tissues from normal and Long-Evans Cinnamon rats. Although this cDNA readily detects Wilson transcripts in liver and other tissues from normal rats, such transcripts are entirely absent from tissues derived from the Long-Evans Cinnamon rat strain. These data therefore identify the Long-Evans Cinnamon rat as the first bona fide animal model of Wilson disease and suggest that this rat strain may be a valuable resource in the study of this genetic disorder.

摘要

长 Evans 肉桂色大鼠会患上一种坏死性肝炎，其特征为肝脏铜过量蓄积、全铜蓝蛋白生物合成缺陷以及胆汁铜排泄受损。为阐明这种缺陷的分子基础，分离出了编码大鼠威尔逊病基因的 cDNA 克隆，并用于检测正常大鼠和长 Evans 肉桂色大鼠选定组织中的基因表达。尽管该 cDNA 能轻易检测到正常大鼠肝脏和其他组织中的威尔逊转录本，但长 Evans 肉桂色大鼠品系的组织中却完全没有此类转录本。因此，这些数据将长 Evans 肉桂色大鼠确定为首个真正的威尔逊病动物模型，并表明该大鼠品系可能是研究这种遗传疾病的宝贵资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/d67ef19edccb/biochemj00084-0013-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/3f3c1ca2457d/biochemj00084-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/dbb039dec49a/biochemj00084-0012-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/e1716ff09535/biochemj00084-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/d67ef19edccb/biochemj00084-0013-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/3f3c1ca2457d/biochemj00084-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/dbb039dec49a/biochemj00084-0012-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/e1716ff09535/biochemj00084-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/930b/1137132/d67ef19edccb/biochemj00084-0013-b.jpg

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1
Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.威尔逊氏病基因在长-伊文斯肉桂色大鼠中表达不足。
Biochem J. 1994 Jul 1;301 ( Pt 1)(Pt 1):1-4. doi: 10.1042/bj3010001.
2
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.LEC大鼠在与威尔逊病基因同源的铜转运ATP酶基因中存在缺失。
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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.威尔逊氏病基因是一种与门克斯病基因同源的铜转运ATP酶。
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Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.毒性牛奶突变（tx）对Wnd（威尔逊铜ATP酶的小鼠同源物）的功能及细胞内定位的影响。
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本文引用的文献

1
A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).对三十个患有威尔逊氏病（肝豆状核变性）家庭的遗传学分析。
Ann Hum Genet. 1960 Apr;24:33-43. doi: 10.1111/j.1469-1809.1959.tb01713.x.
2
The basic science of gene therapy.基因治疗的基础科学。
Science. 1993 May 14;260(5110):926-32. doi: 10.1126/science.8493530.
3
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.门克斯病候选基因的分离及其编码铜转运ATP酶的证据。
一种因转铁蛋白受体2突变导致的遗传性血色素沉着症的新型大鼠模型。
Comp Med. 2013 Apr;63(2):143-55.
4
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.威尔逊病和门克斯病的分子发病机制：突变与分子缺陷及疾病表型的相关性
J Med Genet. 2007 Nov;44(11):673-88. doi: 10.1136/jmg.2007.052746. Epub 2007 Aug 23.
5
ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.美国内科医师学会最佳实践第163号。威尔逊氏病：急性和症状前的实验室诊断与监测
J Clin Pathol. 2000 Nov;53(11):807-12. doi: 10.1136/jcp.53.11.807.
6
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.威尔逊病蛋白的功能表达揭示了常见H1069Q突变的定位错误和铜依赖性转运受损。
Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10854-9. doi: 10.1073/pnas.95.18.10854.
7
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.无铜蓝蛋白血症：这种铁代谢紊乱疾病的分子特征
Proc Natl Acad Sci U S A. 1995 Mar 28;92(7):2539-43. doi: 10.1073/pnas.92.7.2539.
Nat Genet. 1993 Jan;3(1):7-13. doi: 10.1038/ng0193-7.
4
Isolation of a partial candidate gene for Menkes disease by positional cloning.通过定位克隆分离门克斯病的部分候选基因。
Nat Genet. 1993 Jan;3(1):20-5. doi: 10.1038/ng0193-20.
5
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.分离出一种门克斯病的候选基因，该基因编码一种潜在的重金属结合蛋白。
Nat Genet. 1993 Jan;3(1):14-9. doi: 10.1038/ng0193-14.
6
Inhibition of the copper incorporation into ceruloplasmin leads to the deficiency in serum ceruloplasmin activity in Long-Evans cinnamon mutant rat.抑制铜掺入铜蓝蛋白会导致长 Evans 肉桂突变大鼠血清铜蓝蛋白活性缺乏。
J Biol Chem. 1993 Apr 25;268(12):8965-71.
7
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.铜锌超氧化物歧化酶基因突变与家族性肌萎缩侧索硬化症相关。
Nature. 1993 Mar 4;362(6415):59-62. doi: 10.1038/362059a0.
8
Prevention of spontaneous hepatocellular carcinoma in Long-Evans cinnamon rats with hereditary hepatitis by the administration of D-penicillamine.通过给予D-青霉胺预防遗传性肝炎的长-伊文斯肉桂色大鼠自发性肝细胞癌。
Hepatology. 1993 Sep;18(3):614-20.
9
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.威尔逊氏病基因是一种与门克斯病基因同源的铜转运ATP酶。
Nat Genet. 1993 Dec;5(4):344-50. doi: 10.1038/ng1293-344.
10
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.威尔逊氏病基因是一种假定的铜转运P型ATP酶，与门克斯基因相似。
Nat Genet. 1993 Dec;5(4):327-37. doi: 10.1038/ng1293-327.