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Retinal Localization and Copper-Dependent Relocalization of the Wilson and Menkes Disease Proteins

By Predrag Krajacic, Ying Qian, Paul Hahn, Tzvete Dentchev, Nina Lukinova and Joshua L. Dunaief


PURPOSE. Menkes and Wilson diseases are associated with retinal degeneration. The Menkes and Wilson genes are homologous copper transporters, but differences in their expression pattern lead to different disease manifestations. To determine whether the Wilson and Menkes genes may act locally in the retina, this study was undertaken to assess retinal Wilson and Menkes expression and localization. METHODS. RT/PCR was used to test for the presence of Wilson and Menkes mRNAs in mouse and human retinas and retinal pigment epithelial cell lines. The Menkes and Wilson proteins were immunolocalized in human and mouse retinas and in the ARPE-19 cell line. RESULTS. The Menkes mRNA and protein were present in the RPE and neurosensory retina whereas the Wilson mRNA and protein were limited to the RPE. In the RPE, both protein

Year: 2013
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