Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.
Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.
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Long-Evans Cinnamon 大鼠中威尔逊病基因的表达存在缺陷。
DOI：
10.1042/bj3010001
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Gitlin,JD
中科院分区：
文献类型：
--
作者：
Yamaguchi,Y;Heiny,ME;Shimizu,N;Aoki,T;Gitlin,JD
长-埃文斯肉桂大鼠发展为坏死性肝炎，其特征是肝脏铜积聚过多，全白蛋白生物合成缺陷和胆道铜排泄受损。为了阐明这一缺陷的分子基础，分离了一个编码大鼠威尔逊病基因的cDNA克隆，并在正常大鼠和Long-Evans肉桂大鼠的选定组织中检测了基因表达。尽管这种cDNA很容易在正常大鼠的肝脏和其他组织中检测到Wilson转录本，但这种转录本在Long-Evans肉桂大鼠菌株的组织中完全不存在。因此，这些数据确定了Long-Evans肉桂大鼠是威尔逊病的第一个真正的动物模型，并表明该大鼠菌株可能是研究这种遗传疾病的宝贵资源。
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.