CBFB

Core-binding factor, beta subunit, also known as CBFB, is a human gene.

PBB_Summary
section_title =
summary_text = The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene.cite web | title = Entrez Gene: CBFB core-binding factor, beta subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=865| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hart SM, Foroni L |title=Core binding factor genes and human leukemia. |journal=Haematologica |volume=87 |issue= 12 |pages= 1307–23 |year= 2003 |pmid= 12495904 |doi=
*cite journal | author=Liu P, Seidel N, Bodine D, "et al." |title=Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail. |journal=Cold Spring Harb. Symp. Quant. Biol. |volume=59 |issue= |pages= 547–53 |year= 1995 |pmid= 7587111 |doi=
*cite journal | author=Hajra A, Collins FS |title=Structure of the leukemia-associated human CBFB gene. |journal=Genomics |volume=26 |issue= 3 |pages= 571–9 |year= 1995 |pmid= 7607682 |doi=
*cite journal | author=Bae SC, Takahashi E, Zhang YW, "et al." |title=Cloning, mapping and expression of PEBP2 alpha C, a third gene encoding the mammalian Runt domain. |journal=Gene |volume=159 |issue= 2 |pages= 245–8 |year= 1995 |pmid= 7622058 |doi=
*cite journal | author=Liu P, Tarlé SA, Hajra A, "et al." |title=Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. |journal=Science |volume=261 |issue= 5124 |pages= 1041–4 |year= 1993 |pmid= 8351518 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Hillier LD, Lennon G, Becker M, "et al." |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=
*cite journal | author=Hajra A, Collins FS |title=Structure of the leukemia-associated human CBFB gene. |journal=Genomics |volume=38 |issue= 1 |pages= 107 |year= 1997 |pmid= 9064279 |doi=
*cite journal | author=Chiba N, Watanabe T, Nomura S, "et al." |title=Differentiation dependent expression and distinct subcellular localization of the protooncogene product, PEBP2beta/CBFbeta, in muscle development. |journal=Oncogene |volume=14 |issue= 21 |pages= 2543–52 |year= 1997 |pmid= 9191054 |doi= 10.1038/sj.onc.1201109
*cite journal | author=Tanaka Y, Watanabe T, Chiba N, "et al." |title=The protooncogene product, PEBP2beta/CBFbeta, is mainly located in the cytoplasm and has an affinity with cytoskeletal structures. |journal=Oncogene |volume=15 |issue= 6 |pages= 677–83 |year= 1997 |pmid= 9264408 |doi= 10.1038/sj.onc.1201235
*cite journal | author=Kitabayashi I, Ida K, Morohoshi F, "et al." |title=The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1. |journal=Mol. Cell. Biol. |volume=18 |issue= 2 |pages= 846–58 |year= 1998 |pmid= 9447981 |doi=
*cite journal | author=Levanon D, Goldstein RE, Bernstein Y, "et al." |title=Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 20 |pages= 11590–5 |year= 1998 |pmid= 9751710 |doi=
*cite journal | author=Kogan SC, Lagasse E, Atwater S, "et al." |title=The PEBP2betaMYH11 fusion created by Inv(16)(p13;q22) in myeloid leukemia impairs neutrophil maturation and contributes to granulocytic dysplasia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 20 |pages= 11863–8 |year= 1998 |pmid= 9751756 |doi=
*cite journal | author=Goger M, Gupta V, Kim WY, "et al." |title=Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta. |journal=Nat. Struct. Biol. |volume=6 |issue= 7 |pages= 620–3 |year= 1999 |pmid= 10404215 |doi= 10.1038/10664
*cite journal | author=Lutterbach B, Hou Y, Durst KL, Hiebert SW |title=The inv(16) encodes an acute myeloid leukemia 1 transcriptional corepressor. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 22 |pages= 12822–7 |year= 1999 |pmid= 10536006 |doi=
*cite journal | author=Warren AJ, Bravo J, Williams RL, Rabbitts TH |title=Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta. |journal=EMBO J. |volume=19 |issue= 12 |pages= 3004–15 |year= 2000 |pmid= 10856244 |doi= 10.1093/emboj/19.12.3004
*cite journal | author=Kanto S, Chiba N, Tanaka Y, "et al." |title=The PEBP2beta/CBF beta-SMMHC chimeric protein is localized both in the cell membrane and nuclear subfractions of leukemic cells carrying chromosomal inversion 16. |journal=Leukemia |volume=14 |issue= 7 |pages= 1253–9 |year= 2000 |pmid= 10914550 |doi=
*cite journal | author=O'Reilly J, Chipper L, Springall F, Herrmann R |title=A unique structural abnormality of chromosome 16 resulting in a CBF beta-MYH11 fusion transcript in a patient with acute myeloid leukemia, FAB M4. |journal=Cancer Genet. Cytogenet. |volume=121 |issue= 1 |pages= 52–5 |year= 2000 |pmid= 10958941 |doi=
*cite journal | author=Bravo J, Li Z, Speck NA, Warren AJ |title=The leukemia-associated AML1 (Runx1)--CBF beta complex functions as a DNA-induced molecular clamp. |journal=Nat. Struct. Biol. |volume=8 |issue= 4 |pages= 371–8 |year= 2001 |pmid= 11276260 |doi= 10.1038/86264
*cite journal | author=Bäckström S, Wolf-Watz M, Grundström C, "et al." |title=The RUNX1 Runt domain at 1.25A resolution: a structural switch and specifically bound chloride ions modulate DNA binding. |journal=J. Mol. Biol. |volume=322 |issue= 2 |pages= 259–72 |year= 2002 |pmid= 12217689 |doi=

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