Characterization and localization of the Huntington disease gene product.
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.
Hoogeveen
A T
AT
MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Willemsen
R
R
Meyer
N
N
de Rooij
K E
KE
Roos
R A
RA
van Ommen
G J
GJ
Galjaard
H
H
D000595:Amino Acid Sequence; D000818:Animals; D000906:Antibodies; D001921:Brain / Q000166:cytology / Q000378:metabolism*; D005625:Frontal Lobe / Q000166:cytology / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics*; D007124:Immunoenzyme Techniques; D007150:Immunohistochemistry; D008214:Lymphocytes / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D008253:Macaca mulatta; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000096:biosynthesis*; D009474:Neurons / Q000166:cytology / Q000378:metabolism; D009687:Nuclear Proteins / Q000032:analysis / Q000096:biosynthesis*; D010455:Peptides / Q000138:chemical synthesis / Q000276:immunology; D011689:Purkinje Cells / Q000378:metabolism / Q000473:pathology; D012016:Reference Values; D013737:Testis / Q000166:cytology / Q000378:metabolism*
D000906:Antibodies; C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D010455:Peptides