Article
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
American journal of human genetics - 1 Apr 2005
Roelfsema Jeroen H, White Stefan J, Ariyürek Yavuz, Bartholdi Deborah, Niedrist Dunja, Papadia Francesco, Bacino Carlos A, den Dunnen Johan T, van Ommen Gert-Jan B, Breuning Martijn H, Hennekam Raoul C, Peters Dorien J M
Abstract excerpt
CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various signal-transduction pathways. Both are potent histone acetyl transferases. A certain level of CREB-binding protein is essential for normal development, since inactivation of one allele causes Rubinstein-Taybi syndrome (RSTS). There is a direct link between loss of acetyl transferase activity...
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