Wu J, Forbes J R, Chen H S, Cox D W
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Nat Genet. 1994 Aug;7(4):541-5. doi: 10.1038/ng0894-541.
The Long-Evans Cinnamon (LEC) rat shows similarity to Wilson disease in many clinical and biochemical features. We have cloned cDNAs for the rat gene (Atp7b) homologous to the human Wilson disease gene (ATP7B) and have used them to identify a partial deletion in the Atp7b gene in the LEC rat. The deletion removes at least 900 bp of the coding region at the 3' end, includes the crucial ATP binding domain and extends downstream of the gene. Our results provide convincing evidence for defining the LEC rat as an animal model for Wilson disease. This model will be important for studying liver pathophysiology, for developing therapy for Wilson disease and for studying the pathway of copper transport and its possible interaction with other heavy metals.
长 Evans 肉桂色（LEC）大鼠在许多临床和生化特征上与威尔逊病相似。我们已经克隆了与人类威尔逊病基因（ATP7B）同源的大鼠基因（Atp7b）的 cDNA，并利用它们鉴定出 LEC 大鼠 Atp7b 基因中的部分缺失。该缺失至少去除了 3' 端编码区的 900 bp，包括关键的 ATP 结合域，并延伸至基因下游。我们的结果为将 LEC 大鼠定义为威尔逊病的动物模型提供了令人信服的证据。该模型对于研究肝脏病理生理学、开发威尔逊病治疗方法以及研究铜转运途径及其与其他重金属可能的相互作用将具有重要意义。
