title: [Clinical sequelae of mutation of the CBP gene].
abstract: Gene CBP codes for a transcriptional coactivator, which can interact with many transcriptional factors. It modifies the process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or by histone acetylation. CBP gene mutation is the molecular cause of autosomal dominant genetic disease called Rubinstein-Taybi syndrome that is manifested by mental and growth retardations, by typical face malformations and broad thumbs and broad big toes. The CBP gene can be affected by the t(8;16)(p11;p13.3) translocation resulting in production of the MOZ/CBP chimeric protein and in induction of acute myeloblastic leukaemia. Therapy using topoisomerase II inhibitors can induce the t(11;16)(q23;13.3) translocation causing acute myeloid or lymphoid leukaemia or myelodysplasia through production of the MLL/CBP protein chimera.
authors.affiliation: Oddĕlení bunĕcné a molekulární onkologie, Masarykův onkologický ústav, Brno.
authors.forename: J
authors.initials: J
authors.lastname: Smardová
authors.forename: J
authors.initials: J
authors.lastname: Smarda
mesh_terms: D050882:CREB-Binding Protein; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C020723:citrate-binding transport protein; D050882:CREB-Binding Protein; C494363:CREBBP protein, human