CHARACTERIZATION AND LOCALIZATION OF THE HUNTINGTON DISEASE GENE-PRODUCT

被引：157

作者：

HOOGEVEEN, AT

WILLEMSEN, R

MEYER, N

DEROOIJ, KE

ROOS, RAC

VANOMMEN, GJB

GALJAARD, H

机构：

[1] LEIDEN UNIV,MGC DEPT HUMAN GENET,LEIDEN,NETHERLANDS

[2] LEIDEN UNIV,DEPT NEUROL,LEIDEN,NETHERLANDS

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 12期

关键词：

D O I：

10.1093/hmg/2.12.2069

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 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.

引用

页码：2069 / 2073

页数：5

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