在长 Evans 肉桂色突变大鼠中，威尔逊病基因的大鼠同源物在其蛋白质编码区域的 3' 端被部分删除。
The rat homologue of the Wilson's disease gene was partially deleted at the 3' end of its protein-coding region in Long-Evans Cinnamon mutant rats.
作者信息
Muramatsu Y, Yamada T, Moralejo D H, Cai Y, Xin X, Miwa Y, Izumi K, Matsumoto K
机构信息
Institute for Animal Experimentation, University of Tokushima School of Medicine, Japan.
出版信息
Res Commun Mol Pathol Pharmacol. 1995 Sep;89(3):421-4.
LEC mutant rats exhibit an abnormal hepatic copper accumulation, due to the defection of the rat homologue of the Wilson's disease gene. In this study, we found a definitive evidence that the rat Wilson's disease gene of LEC rats was partially deleted at the 3' end of its protein-coding region, by performing Southern blot analysis. Furthermore, in Northern blot analysis, we confirmed that expression of the rat Wilson's disease gene was deficient in the liver of LEC rats. The partial deletion of the rat Wilson's disease gene should be responsible for the deficient expression of that gene in LEC rats.
由于威尔逊病基因的大鼠同源物存在缺陷，LEC突变大鼠表现出肝脏铜异常蓄积。在本研究中，我们通过进行Southern印迹分析，发现了确凿证据，即LEC大鼠的大鼠威尔逊病基因在其蛋白质编码区的3'端部分缺失。此外，在Northern印迹分析中，我们证实大鼠威尔逊病基因在LEC大鼠肝脏中的表达缺乏。大鼠威尔逊病基因的部分缺失应是该基因在LEC大鼠中表达缺乏的原因。
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