Characterization of the human DYRK1A promoter and its regulation by the transcription factor E2F1.

ABSTRACT:

Background

Overexpression of the human DYRK1A gene due to the presence of a third gene copy in trisomy 21 is thought to play a role in the pathogenesis of Down syndrome. The observation of gene dosage effects in transgenic mouse models implies that subtle changes in expression levels can affect the correct function of the DYRK1A gene product. We have therefore characterized the promoter of the human DYRK1A gene in order to study its transcriptional regulation.

Results

Transcription start sites of the human DYRK1A gene are distributed over 800 bp within a region previously identified as an unmethylated CpG island. We have identified a new alternative noncoding 5'-exon of the DYRK1A gene which is located 772 bp upstream of the previously described transcription start site. Tra

SUBMITTER: Maenz B 

PROVIDER: S-EPMC2292204 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature