Abstract
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. Immunobiochemcial studies with polyclonal antibodies directed against this synthetic peptide (position 3114-3141) on lymphoblastoid 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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Amino Acid Sequence
-
Animals
-
Antibodies
-
Brain / cytology
-
Brain / metabolism*
-
Frontal Lobe / cytology
-
Frontal Lobe / metabolism*
-
Frontal Lobe / pathology
-
Humans
-
Huntingtin Protein
-
Huntington Disease / genetics*
-
Immunoenzyme Techniques
-
Immunohistochemistry
-
Lymphocytes / cytology
-
Lymphocytes / metabolism
-
Lymphocytes / pathology
-
Macaca mulatta
-
Male
-
Molecular Sequence Data
-
Nerve Tissue Proteins / analysis
-
Nerve Tissue Proteins / biosynthesis*
-
Neurons / cytology
-
Neurons / metabolism
-
Nuclear Proteins / analysis
-
Nuclear Proteins / biosynthesis*
-
Peptides / chemical synthesis
-
Peptides / immunology
-
Purkinje Cells / metabolism
-
Purkinje Cells / pathology
-
Reference Values
-
Testis / cytology
-
Testis / metabolism*
Substances
-
Antibodies
-
HTT protein, human
-
Huntingtin Protein
-
Nerve Tissue Proteins
-
Nuclear Proteins
-
Peptides