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© 1993 Oxford University Press

RESEARCH-ARTICLE

Characterization and localization of the Huntington disease gene product

André T. Hoogeveen*, Rob Willemsen, Nicolle Meyer, Karien E.de Roolj1, Raymund A.C. Roos2, Gert-Jan B.van Ommen1 and Hans Galjaard

MGC Department of Clinical Genetics, Erasmus University PO Box 1738, 3000 DR Rotterdam 1MGC Department of Human Genetics, Leiden University Leiden, The Netherlands 2Department of Neurology, Leiden University Leiden, The Netherlands

*To whom correspondence should be addressed

Received October 14, 1993; Revised October 22, 1993; Accepted October 22, 1993

The recent identification of the Huntington's disease (HD) gene, enabled us to synthesize oligopeptides corresponding with the carboxy-terminal end of the predicted HD-gene (IT15) product. Immunobiochemical studies with polyclonal antibodies directed against this synthetic peptide (position 3114–3141) on lymphobiastold cells from normal individuals and patients with Huntington disease, revealed the presence of a protein (huntingtin) with a molecular mass of approximately 330 kDa. Immunocytochemical 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 molecular mass or intracellular localization was found between normal and mutant cells.


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