Clinical Consequence of CBP Gene Mutation

Overview

Gene CBP codes for a transcriptional coactivator, which can interact with many transcriptional factors. It modifiesthe process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or byhistone acetylation. CBP gene mutation is the molecular cause of autosomal dominant genetic disease calledRubinstein-Taybi syndrome that is manifested by mental and growth retardations, by typical face malformations andbroad thumbs and broad big toes. The CBP gene can be affected by the t(8;16)(p11;p13.3) translocation resulting inproduction of the MOZ/CBP chimeric protein and in induction of acute myeloblastic leukaemia. Therapy usingtopoisomerase II inhibitors can induce the t(11;16)(q23;13.3) translocation causing acute myeloid or lymphoidleukaemia or myelodysplasia through production of the MLL/CBP protein chimera.

Key words:
CBP, Rubinstein-Taybi syndrome, leukaemia, t(8;16), t(11;16).