EP300


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EP300

A gene on chromosome 22q13.2 that encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein, which acts as a histone acetyltransferase, regulating transcription via chromatin remodelling; it is important in cell proliferation and differentiation. EP300 is a co-activator of HIF1A (hypoxia-inducible factor-1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes (e.g., VEGF).
 
Molecular pathology
EP300 mutations are the cause of Rubinstein-Taybi syndrome and may play a role in epithelial malignancies.
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References in periodicals archive ?
Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease.
These authors proposed the existence of 3 novel candidate oncogenes--NME2 (nucleoside diphosphate kinase), EID1/CRI1 (regulator of EP300 and RB1), and PDGFC (platelet-derived growth factor)--and 1 candidate tumor suppressor gene, GSN (cytoskeleton regulator), in MPM.
Mocetinostat is currently in two single-agent Phase II trials evaluating the treatment of patients that carry inactivating mutations of the histone acetyltransferase genes CREBBP and EP300.
Associations of genetic variants in the estrogen receptor coactivators PPAGC1A, PPARGC1B and EP300 with familial breast cancer.
The primary objective of the study is to determine the clinical activity of mocetinostat in patients with previously treated, locally advanced, unresectable or metastatic urothelial carcinoma of the bladder harboring inactivating mutations or deletions of the histone acetyltransferase genes CREBBP and/or EP300 (estimated to occur in approximately 20% of bladder cancer patients).
The trial will enroll patients whose tumors have mutations or deletions of the CREBBP and/or EP300 genes.
In addition, Phase 2 studies of mocetinostat are underway in patient populations selected for CREBBP and EP300 genetic mutations in Bladder Cancer and Diffuse Large B-cell Lymphoma.
The affected genes included BRAF, RAF1, H3F3A, ATRX, EP300, WHSC1 and CHD2.
In the same issue of Nature, investigators also reported that deletions and deactivating mutations in CREBBP and a related gene known as EP300 occurred in about one-third of patients identified with one of the two most common subtypes of B-cell non-Hodgkin lymphoma.