CHARACTERIZATION AND LOCALIZATION OF THE HUNTINGTON DISEASE GENE-PRODUCT

The recent identification of the Huntington's disease (HD) gene, enabl ed us to synthesize oligopeptides corresponding with the carboxy-termi nal end of the predicted HD-gene (IT15) product. Immunobiochemical stu dies with polyclonal antibodies directed against this synthetic peptid e (position 3114-3141) on lymphoblastoid cells from normal individuals and patients with Huntington disease, revealed the presence of a prot ein (huntingtin) with a molecular mass of approximately 330 kDa. Immun ocytochemical studies showed a cytoplasmic localization of huntingtin in various cell types including neurons. In most of the neuronal cells the protein was also present in the nucleus. No difference in molecul ar mass or intracellular localization was found between normal and mut ant cells.