Human Molecular Genetics, Vol 7, 791-800, Copyright © 1998 by Oxford University Press
R Coles, R Caswell and DC Rubinsztein
The basis for the highly specific neuronal vulnerability seen in
Huntington's disease (HD) has not been determined. Recent studies have
demonstrated that variation in HD protein expression occurs in the
striatum, with affected regions showing increased HD immunoreactivity.
Experiments in HD and SCA1 transgenic mice suggest a correlation between
phenotypic severity and expression of the mutant transgene. To gain
insights into control of HD gene expression, and to investigate the
possibility of cell-cell differences in transcription, we have analysed the
5' upstream region of the HD gene in a neuronal (SK-N-SH) and a
non-neuronal (JEG3) cell line. Reporter gene assays demonstrated the
presence of a key positive-acting region apparently arising from two Sp1
sites in a tandem repeat acting synergistically. This site is polymorphic,
and a single Sp1 site is associated with reduced levels of transcription.
These experiments also reveal differences in control of expression between
neuronal and non-neuronal cell lines.
ARTICLES
Functional analysis of the Huntington's disease (HD) gene promoter
Department of Medical Genetics, University of Cambridge, Box 158, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK.
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