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

• Published in: BMC molecular biology Vol. 9; no. 1; p. 30
• Main Authors: Maenz, Barbara, Hekerman, Paul, Vela, Eva M, Galceran, Juan, Becker, Walter
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 26.03.2008; BioMed Central
• Subjects: Alternative Splicing - drug effects; Base Sequence; Binding Sites; Cell Line, Tumor; Chromatin - metabolism; Colforsin - pharmacology; Cyclic AMP Response Element-Binding Protein - metabolism; Databases, Nucleic Acid; DNA binding proteins; DNA Mutational Analysis; Dyrk Kinases; E2F1 Transcription Factor - metabolism; Gene Expression Regulation, Enzymologic - drug effects; Genes, Reporter; Genetic regulation; Humans; Molecular Sequence Data; Physiological aspects; Promoter Regions, Genetic - genetics; Promoters (Genetics); Protein Serine-Threonine Kinases - genetics; Protein-Tyrosine Kinases - genetics; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Deletion; Sp1 Transcription Factor - metabolism; Transcription Initiation Site; Up-Regulation - drug effects; Up-Regulation - genetics; Germany

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 fun...