Atlas of Genetics and Cytogenetics in Oncology and Haematology
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
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CBFB (subunit b of core binding factor)
| Identity |
| Other names | CBFb |
| PEBP2b ( polyomavirus enhancer binding protein b) | |
| HGNC (Hugo) | CBFB |
| LocusID (NCBI) | 865 |
| Location | 16q22.1 |
| Location_base_pair | Starts at 67063050 and ends at 67134958 bp from pter ( according to hg19-Feb_2009) [Mapping] |
 | |
| CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| 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 |
| Other Leukemias implicated (Data extracted from papers in the Atlas) |
| 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. 1999;3(3):124-125. |
| Free journal version : [ pdf ] [ DOI ] |
| URL : http://AtlasGeneticsOncology.org/Genes/CBFbID45.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Feb 17 20:05:55 CET 2015 |
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