CBF is a heterodimer comprising the subunit b (CBFb) and the subunit CBFa (3 CBFa genes are known, of which is CBFa2, also called AML1, involved in the well known t(8;21), t(12;21), and in other leukaemias); CBFa binds to a core motif of the DNA (5'-PYGPYGGT-3'); CBFb increases CBFa's affinity to DNA by 5 to 10 fold; CBF is a transcription factor which regulates the expression of myeloid and T-cell specific genes such as: GM-CSF, M-CSFR, IL3, T- Cell receptors TCRA-D, TCRB and TCRG; CBF cooperate with various tissue specific factors to activate these lineage-restricted transcriptions; homozygous knock down of either CBFb or CBFa results in embryonic lethality, showing that they are essential for fetal liver hematopoiesis
Chromosomal aberrations: inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) are associated with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS).The hybrid gene isCBFB-MYH11, in which the N-terminus and most of CBFB is fused to the MYH11 C-terminus.
References (open access):
Genetic tests to evaluate prognosis and predict therapeutic response in acute myeloid leukemia. Gulley ML, Shea TC, Fedoriw Y. J Mol Diagn. 2010 Jan;12(1):3-16.
CBFbeta is critical for AML1-ETO and TEL-AML1 activity. Roudaia L, Cheney MD, Manuylova E, Chen W, Morrow M, Park S, Lee CT, Kaur P, Williams O, Bushweller JH, Speck NA. Blood. 2009 Mar 26;113(13):3070-9.
Identification of genes that synergize with Cbfb-MYH11 in the pathogenesis of acute myeloid leukemia. Castilla LH, Perrat P, Martinez NJ, Landrette SF, Keys R, Oikemus S, Flanegan J, Heilman S, Garrett L, Dutra A, Anderson S, Pihan GA, Wolff L, Liu PP. Proc Natl Acad Sci U S A. 2004 Apr 6;101(14):4924-9.