[Transcriptional regulation of Huntington disease gene]

Eight diseases have been reported to be caused by CAG repeat expansion in each causative gene. Expressions of these genes are considered ubiquitous so far examined except for SCA6 gene, and the question why the lesions of each disease are limited to specific areas in central nervous system has been raised. We reviewed in this paper the functional analysis of gene promoter of Huntington disease gene so far reported and introduced our own data on the effect of db-cAMP and TPA on the promoter activity of Huntington disease (HD) gene and DRPLA gene. Db-cAMP and TPA activated DRPLA gene promoter but didn't activate HD gene promoter. The importance of transcriptional regulation of HD gene was discussed.