Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
- 1 February 1999
- journal article
- Published by Wiley in Annals of Neurology
- Vol. 45 (2) , 232-241
- https://doi.org/10.1002/1531-8249(199902)45:2<232::aid-ana14>3.0.co;2-7
Abstract
Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of a CAG trinucleotide repeat located in the coding region of the human SCA2 gene. The SCA2 gene product, ataxin-2, is a basic protein with two domains (Sm1 and Sm2) implicated in RNA splicing and protein interaction. However, the wild-type function of ataxin-2 is yet to be determined. To help clarify the function of ataxin-2, we produced antibodies to three antigenic peptides of ataxin-2 and analyzed the expression pattern of ataxin-2 in normal and SCA2 adult brains and cerebellum at different developmental stages. These studies revealed that (1) both wild-type and mutant forms of ataxin-2 were synthesized; (2) the wild-type ataxin-2 was localized in the cytoplasm in specific neuronal groups with strong labeling of Purkinje cells; (3) the level of ataxin-2 increased with age in Purkinje cells of normal individuals; and (4) ataxin-2-like immunoreactivity in SCA2 brain tissues was more intense than in normal brain tissues, and intranuclear ubiquitinated inclusions were not seen in SCA2 brain tissues.Keywords
This publication has 35 references indexed in Scilit:
- The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expressionHuman Molecular Genetics, 1998
- Genomic Structure of the Human Gene for Spinocerebellar Ataxia Type 2 (SCA2) on Chromosome 12q24.1Genomics, 1998
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997
- Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)Brain, 1995
- Huntington's disease: CAG genetics expands neurobiologyCurrent Opinion in Neurobiology, 1995
- Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individualsNature Genetics, 1995
- Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brainNature Genetics, 1995
- Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated formNature Genetics, 1995
- Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11Nature Genetics, 1994
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomesCell, 1993