title: 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.
abstract: 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.
authors.affiliation: Institute for Animal Experimentation, University of Tokushima School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Muramatsu
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: D H
authors.initials: DH
authors.lastname: Moralejo
authors.forename: Y
authors.initials: Y
authors.lastname: Cai
authors.forename: X
authors.initials: X
authors.lastname: Xin
authors.forename: Y
authors.initials: Y
authors.lastname: Miwa
authors.forename: K
authors.initials: K
authors.lastname: Izumi
authors.forename: K
authors.initials: K
authors.lastname: Matsumoto
mesh_terms: D000818:Animals; D015152:Blotting, Northern; D015139:Blotting, Southern; D015870:Gene Expression / Q000235:genetics*; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D008099:Liver / Q000473:pathology; D015394:Molecular Structure; D009154:Mutation; D051381:Rats; D011922:Rats, Mutant Strains; D017385:Sequence Homology