Atlas of Genetics and Cytogenetics in Oncology and Haematology
CBFb (subunit b of core binding factor)
| Identity |
| Other names | PEBP2b ( polyomavirus enhancer binding protein b) |
| HGNC | CBFB |
| Location | 16q22 |
| Location_base_pair | Starts at 65620551 and ends at 65692459 bp from pter ( according to hg18-Mar_2006). |
 | |
| CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it | |
| DNA/RNA |
| Description | 6 exons; 50 kb |
| Transcription | alternate splicing at cDNA positions 495 (in exon 5) and 526 |
| Protein |
 | |
| Description | 2 alternative forms of 182 and 187 amino acids with the first 165 N-term identical amino acids and different C-term; 22 kDa |
| Expression | wide |
| Localisation | cytoplasmic when not dimerized |
| Function | 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); CBF binds to a core motif of the DNA (herein the name); CBFb by itself does not contain any known DNA binding motif or any transcriptional activation domain; CBFa binds to DNA; 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 |
| Homology | highly conserved through the species |
| Implicated in |
| Entity | inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (ANLL) or myelodysplastic syndromes (MDS) --> CBFb - MYH11 |
| Disease | nearly pathognomonic of M4eo-ANLL: with eosinophilia; frequent CNS involvement |
| Prognosis | high CR rate; better prognosis than most other ANLL |
| Cytogenetics | the 3 chromosome anomalies are variants of each other |
| Hybrid/Mutated Gene | 5' CBFb - 3' MYH11 |
| Abnormal Protein | the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain |
| External links |
| Bibliography |
| Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia. |
| Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS |
| Blood. 1993 ; 82 (3) : 716-721. |
| PMID 8338941 |
| Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha. |
| Ogawa E, Inuzuka M, Maruyama M, Satake M, Naito-Fujimoto M, Ito Y, Shigesada K |
| Virology. 1993 ; 194 (1) : 314-331. |
| PMID 8386878 |
| PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene. |
| Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M, Shigesada K, Ito Y |
| Proceedings of the National Academy of Sciences of the United States of America. 1993 ; 90 (14) : 6859-6863. |
| PMID 8341710 |
| Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor. |
| Wang S, Wang Q, Crute BE, Melnikova IN, Keller SR, Speck NA |
| Molecular and cellular biology. 1993 ; 13 (6) : 3324-3339. |
| PMID 8497254 |
| Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. |
| Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, Eckhaus M, Marˆ‚n-Padilla M, Collins FS, Wynshaw-Boris A, Liu PP |
| Cell. 1996 ; 87 (4) : 687-696. |
| PMID 8929537 |
| Acute myelogenous leukemia: a disorder of gene splicing? |
| van der Reijden BA, van Ommen GJ, Hagemeijer A, Breuning MH |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (2) : 204-206. |
| PMID 8637227 |
| The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. |
| Wang Q, Stacy T, Miller JD, Lewis AF, Gu TL, Huang X, Bushweller JH, Bories JC, Alt FW, Ryan G, Liu PP, Wynshaw-Boris A, Binder M, Marˆ‚n-Padilla M, Sharpe AH, Speck NA |
| Cell. 1996 ; 87 (4) : 697-708. |
| PMID 8929538 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 06-1999 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . CBFb (subunit b of core binding factor). Atlas Genet Cytogenet Oncol Haematol. June 1999 . URL : http://AtlasGeneticsOncology.org/Genes/CBFbID45.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sun Nov 9 19:38:21 2008 |
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