Ontology highlight
ABSTRACT:
SUBMITTER: Roelfsema JH
PROVIDER: S-EPMC1199295 | biostudies-literature | 2005 Apr
REPOSITORIES: biostudies-literature
Roelfsema Jeroen H JH White Stefan J SJ Ariyürek Yavuz Y Bartholdi Deborah D Niedrist Dunja D Papadia Francesco F Bacino Carlos A CA den Dunnen Johan T JT van Ommen Gert-Jan B GJ Breuning Martijn H MH Hennekam Raoul C RC Peters Dorien J M DJ
American journal of human genetics 20050210 4
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 and RSTS, which indicates that the disorder is caused by aberrant chromatin regulat ...[more]