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