Biochemical Characterization of the Disease-Causing Mutation In Domain Six of the Wilson Protein
Hetrick, Evan M.
MetadataShow full item record
Wilson Disease is one of the most common causes of abnormally elevated copper content. The disease occurs because of mutations in the gene coding for the Wilson Protein, a copper-transporting ATPase. A mutation of amino acid residue 591 from glycine to aspartic acid in domain six of the Wilson Protein is believed to be one of the causes of this disease and is the focus of this study. In order to characterize this mutation, wild-type Wilson domain six was purified from BL21(DE3) cells with two column chromatography steps. Next, mutagenesis was performed on the wild-type plasmid to introduce the previously-mentioned mutation, and this mutated domain six was expressed in BL21(DE3) cells. Comparison of wild-type and mutant domain six will allow for characterization of this disease-causing mutation and may provide some insights into the cause of Wilson Disease.