Genomes and Genes
core binding factors
Summary: Heterodimeric transcription factors containing a DNA-binding alpha subunits, (CORE BINDING FACTOR ALPHA SUBUNITS), along with a non-DNA-binding beta subunits, CORE BINDING FACTOR BETA SUBUNIT. Core Binding Factor regulates GENETIC TRANSCRIPTION of a variety of GENES involved primarily in CELL DIFFERENTIATION and CELL CYCLE progression.
- Wu Y, Yang B, Gao J, Chen J, Lu L, Zeng Z, et al. [Effects and mechanism of drug serum of prepared radix polygoni multiflori on rat osteoblast in vitro]. Zhong Yao Cai. 2011;34:1562-5 pubmed..05). The drug serum of prepared Radix Polygoni Multiflori can stimulate osteoblast proliferation in vitro, and its mechanism may be associated with increasing osteogenesis-related genes expression. ..
- Beghini A, Ripamonti C, Cairoli R, Cazzaniga G, Colapietro P, Elice F, et al. KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication. Haematologica. 2004;89:920-5 pubmed..These results underline that the KIT gene is activated in AML characterized by distinct cytogenetic and molecular genetic patterns and represents the most frequently mutated target in adult CBFL. ..
- Park S, Lee H, Kim I, Kang J, Lee E, Kim H, et al. Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population. Ann Lab Med. 2015;35:288-97 pubmed publisher..The prognostic impact of WT1 mutation in CBF AML is not evident and further investigation is required. ..
- Medeiros B, Othus M, Fang M, Appelbaum F, Estey E. Impact of residual normal metaphases in core binding factor acute myeloid leukemia. Cancer. 2012;118:2420-3 pubmed publisher..26 95% CI, 1.04-1.51; P = .02). In patients with CBF AML, the presence of cells with normal metaphases and increasing age negatively affect the prognosis, especially in patients with inv(16). ..
- Aldoss I, Pullarkat V. Therapy-related acute myeloid leukemia with favorable cytogenetics: still favorable?. Leuk Res. 2012;36:1547-51 pubmed publisher..Therapy-related APL has similar outcome as de novo APL. There is no evidence at the present time to support the routine use of allogeneic HSCT in first complete remission in t-AML with favorable cytogenetics. ..
- Zheng H, Guo Z, Ma Q, Jia H, Dang G. Cbfa1/osf2 transduced bone marrow stromal cells facilitate bone formation in vitro and in vivo. Calcif Tissue Int. 2004;74:194-203 pubmed..These studies indicate that cbfa1/osf2 can induce osteoblast differentiation and bone formation both in vitro and in vivo, suggesting that MSCs transduced with the cbfa1/osf2 gene may be useful in treating bone defects. ..
- Guo T, Cao G, Yu Q, Xiao M, Zhao S, Ji L. [The effect of core binding factor alpha1 on transcriptional regulation of mouse dentin sialophosphoprotein]. Shanghai Kou Qiang Yi Xue. 2006;15:657-9 pubmed..This suggests that cbfalpha1 can transcriptionally regulate the expression of DSPP. Supported by National Natural Science Foundation of China (Grant No.30271418). ..
- Engelse M, Neele J, Bronckers A, Pannekoek H, de Vries C. Vascular calcification: expression patterns of the osteoblast-specific gene core binding factor alpha-1 and the protective factor matrix gla protein in human atherogenesis. Cardiovasc Res. 2001;52:281-9 pubmed..Cbfa-1 expression is absent in normal medial SMC and co-localizes with neointimal macrophages and focal calcifications. ..
- Solis E. Treatment strategies in patients with core-binding factor acute myeloid leukemia. Curr Oncol Rep. 2011;13:359-60 pubmed publisher..Preliminary data with gemtuzumab ozogamicin plus FLAG has been reported. There are not studies with FLAG using oral fludarabine in acute leukemia patients. ..
- Hoyos M, Nomdedeu J, Esteve J, Duarte R, Ribera J, Llorente A, et al. Core binding factor acute myeloid leukemia: the impact of age, leukocyte count, molecular findings, and minimal residual disease. Eur J Haematol. 2013;91:209-18 pubmed publisher..Age, leukocyte counts, BAALC, and MN1 gene expressions as well as high copy numbers of RUNX1-RUNXT1 or CBFB-MYH11 after induction chemotherapy are useful tools to predict the outcome and should be considered for risk-adapted therapy. ..
- An T, Tian Z, He Y, Xiao Y, Jiang Y, Peng J, et al. Porcine reproductive and respiratory syndrome virus attachment is mediated by the N-terminal domain of the sialoadhesin receptor. Vet Microbiol. 2010;143:371-8 pubmed publisher..The present study demonstrates that the first domain at the N-terminus of Sn mediates PRRSV attachment to PAM cells and contributes to better understanding the interaction between PRRSV and its host cells. ..
- Varanasi S, Datta H. Characterisation of cytosolic FK506 binding protein 12 and its role in modulating expression of Cbfa1 and osterix in ROS 17/2.8 cells. Bone. 2005;36:243-53 pubmed
- Kühn M, Radtke I, Bullinger L, Goorha S, Cheng J, Edelmann J, et al. High-resolution genomic profiling of adult and pediatric core-binding factor acute myeloid leukemia reveals new recurrent genomic alterations. Blood. 2012;119:e67-75 pubmed publisher..31 region containing only LSAMP, a putative tumor suppressor. Determining the role of these lesions in leukemogenesis and drug resistance should provide important insights into core-binding factor acute myeloid leukemia. ..
- Yuge L, Okubo A, Miyashita T, Kumagai T, Nikawa T, Takeda S, et al. Physical stress by magnetic force accelerates differentiation of human osteoblasts. Biochem Biophys Res Commun. 2003;311:32-8 pubmed
- Shapiro I. Discovery: Osf2/Cbfa1, a master gene of bone formation. Clin Orthod Res. 1999;2:42-6 pubmed
- Shih L, Liang D, Huang C, Chang Y, Lai C, Lin T, et al. Cooperating mutations of receptor tyrosine kinases and Ras genes in childhood core-binding factor acute myeloid leukemia and a comparative analysis on paired diagnosis and relapse samples. Leukemia. 2008;22:303-7 pubmed..Our study showed that 54% of childhood CBF-AML had RTKs and/or Ras mutations; c-KIT but not CSF1R mutations play a role in the leukemogenesis of childhood CBF-AML. ..
- Wijmenga C, Gregory P, Hajra A, Schrock E, Ried T, Eils R, et al. Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells. Proc Natl Acad Sci U S A. 1996;93:1630-5 pubmed..These observations confirm previous indirect evidence that the CBFbeta-SMMHC fusion protein is capable of forming macromolecular nuclear aggregates and suggests possible models for the mechanism of leukemic transformation. ..
- Marcucci G. Core binding factor acute myeloid leukemia. Clin Adv Hematol Oncol. 2006;4:339-41 pubmed
- Meyers S, Lenny N, Hiebert S. The t(8;21) fusion protein interferes with AML-1B-dependent transcriptional activation. Mol Cell Biol. 1995;15:1974-82 pubmed..Mixing experiments indicated that AML-1/ETO can efficiently block AML-1B-dependent transcriptional activation, suggesting that the t(8;21) translocation creates a dominant interfering protein. ..
- Omori I, Yamaguchi H, Miyake K, Miyake N, Kitano T, Inokuchi K. D816V mutation in the KIT gene activation loop has greater cell-proliferative and anti-apoptotic ability than N822K mutation in core-binding factor acute myeloid leukemia. Exp Hematol. 2017;52:56-64.e4 pubmed publisher..These findings establish that D816V and N822K mutations are situated closely on the KIT receptor activation loop, but D816V has greater cell-proliferative and anti-apoptotic ability than N822K. ..
- Terry A, Kilbey A, Vaillant F, Stewart M, Jenkins A, Cameron E, et al. Conservation and expression of an alternative 3' exon of Runx2 encoding a novel proline-rich C-terminal domain. Gene. 2004;336:115-25 pubmed..In conclusion, the conservation and widespread utilisation of Runx2 exon 6.1 suggest that its encoded isoforms play an as yet undetermined role in mammalian development. ..
- Ziros P, Gil A, Georgakopoulos T, Habeos I, Kletsas D, Basdra E, et al. The bone-specific transcriptional regulator Cbfa1 is a target of mechanical signals in osteoblastic cells. J Biol Chem. 2002;277:23934-41 pubmed
- Bullinger L, Rücker F, Kurz S, Du J, Scholl C, Sander S, et al. Gene-expression profiling identifies distinct subclasses of core binding factor acute myeloid leukemia. Blood. 2007;110:1291-300 pubmed..While the leukemogenic relevance of these signatures remains to be validated, their existence nevertheless supports a prognostically relevant biologic basis for the heterogeneity observed in CBF leukemia. ..
- Ichikawa H, Tanabe K, Mizushima H, Hayashi Y, Mizutani S, Ishii E, et al. Common gene expression signatures in t(8;21)- and inv(16)-acute myeloid leukaemia. Br J Haematol. 2006;135:336-47 pubmed..These distinct features of t(8;21)- and inv(16)-associated genes correlate with the bimodular structures of the chimaeric proteins (CBF-related AML1 and CBFbeta portions, and CBF-unrelated MTG8 and MYH11 portions). ..
- Cammenga J, Horn S, Bergholz U, Sommer G, Besmer P, Fiedler W, et al. Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate. Blood. 2005;106:3958-61 pubmed..Our data show that the addition of kinase inhibitors to conventional chemotherapy might be a new therapeutic option for CBF-AML expressing mutant KIT. ..
- Reiter I, Tzukerman M, Maor G. Spontaneous differentiating primary chondrocytic tissue culture: a model for endochondral ossification. Bone. 2002;31:333-9 pubmed..The present study offers a model for primary chondrocytic tissue culture, which might serve as a model for in vitro endochondral ossification. ..
- Adijiang A, Goto S, Uramoto S, Nishijima F, Niwa T. Indoxyl sulphate promotes aortic calcification with expression of osteoblast-specific proteins in hypertensive rats. Nephrol Dial Transplant. 2008;23:1892-901 pubmed publisher..IS is not only a nephrotoxin but also a vascular toxin, and may contribute to the progression of aortic calcification in stage 5 CKD patients. ..
- van Wijngaarden J, de Rooij K, van Beek E, Bernsen H, Que I, van Hinsbergh V, et al. Identification of differentially expressed genes in a renal cell carcinoma tumor model after endostatin-treatment. Lab Invest. 2004;84:1472-83 pubmed..Using these techniques, we have identified several target genes of endostatin, of which cbfa1/osf2 was found to be specifically expressed in granulocytes in the tumor. ..
- Habtemariam B, Anisimov V, MacKerell A. Cooperative binding of DNA and CBFbeta to the Runt domain of the CBFalpha studied via MD simulations. Nucleic Acids Res. 2005;33:4212-22 pubmed..Results from the MD calculations are used to interpret a variety of experimental mutagenesis data. A novel role for RD Glu116 to the RD-CBFbeta interaction is predicted. ..
- Santos F, Jones D, Qiao W, Cortes J, Ravandi F, Estey E, et al. Prognostic value of FLT3 mutations among different cytogenetic subgroups in acute myeloid leukemia. Cancer. 2011;117:2145-55 pubmed publisher..In patients with NK-AML, FLT3-ITD mutations led to worse survival, which was even worse among patients who had high mutation burden. ..
- Fen J, Zhang J, Dallas S, Lu Y, Chen S, Tan X, et al. Dentin matrix protein 1, a target molecule for Cbfa1 in bone, is a unique bone marker gene. J Bone Miner Res. 2002;17:1822-31 pubmed..These studies highlight Dmp1 as a unique marker gene for osteoblastic differentiation. The close association of Dmp1 and Cbfa1 in the developing skeleton suggests that Dmp1 may play an important role in bone formation. ..
- Coustry F, Sinha S, Maity S, Crombrugghe B. The two activation domains of the CCAAT-binding factor CBF interact with the dTAFII110 component of the Drosophila TFIID complex. Biochem J. 1998;331 ( Pt 1):291-7 pubmed..In CBF-C the C-terminal portion of the molecule seems to be needed for these two activities. Our results suggest that TAF110 might represent one of the co-activators that mediate transcriptional activation by CBF. ..
- Sangle N, Perkins S. Core-binding factor acute myeloid leukemia. Arch Pathol Lab Med. 2011;135:1504-9 pubmed publisher..This review summarizes the spectrum of this subset of AMLs, with particular emphasis on molecular genetics and pathologic findings. ..
- Wang S, Wang Q, Crute B, Melnikova I, Keller S, Speck N. Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor. Mol Cell Biol. 1993;13:3324-39 pubmed..Association of the CBF beta subunits does not extend the phosphate contacts in the binding site. We propose that CBF beta is a non-DNA-binding subunit of CBF and does not contact DNA directly. ..
- Shin H, Kim H, Sohn S, Min Y, Won J, Kim I, et al. Re-analysis of the outcomes of post-remission therapy for acute myeloid leukemia with core binding factor according to years of patient enrollment. Jpn J Clin Oncol. 2010;40:556-66 pubmed publisher..On the contrary to previous findings, allogeneic stem cell transplantation provides significantly improved outcomes than high-dose cytarabine chemotherapy in acute myeloid leukaemia with t(8;21). ..
- Jang W, Yoon J, Park J, Lee G, Kim J, Kwon A, et al. Significance of KIT exon 17 mutation depends on mutant level rather than positivity in core-binding factor acute myeloid leukemia. Blood Cancer J. 2016;6:e387 pubmed publisher..This study highlighted that the KIT mutation should be analyzed using sensitive and quantitative techniques and set a cutoff level for identifying the risk group. ..
- Viswanatha R, Wayt J, Ohouo P, Smolka M, Bretscher A. Interactome analysis reveals ezrin can adopt multiple conformational states. J Biol Chem. 2013;288:35437-51 pubmed publisher..Taken together, the data indicate that ezrin can exist in three different conformational states, and different ligands "perceive" ezrin conformational states differently. ..
- Kurosawa S, Miyawaki S, Yamaguchi T, Kanamori H, Sakura T, Moriuchi Y, et al. Prognosis of patients with core binding factor acute myeloid leukemia after first relapse. Haematologica. 2013;98:1525-31 pubmed publisher..These findings may help to guide therapeutic decisions after first relapse. ..
- Wang F, Wang C, Sheen Chen S, Kuo Y, Chen R, Yang K. Superoxide mediates shock wave induction of ERK-dependent osteogenic transcription factor (CBFA1) and mesenchymal cell differentiation toward osteoprogenitors. J Biol Chem. 2002;277:10931-7 pubmed..Thus, an appropriate modulation of redox reaction by ESW may have some positive effect on the bone regeneration. ..
- Fuster O, Barragan E, Bolufer P, Cervera J, Larráyoz M, Jimenez Velasco A, et al. Rapid detection of KIT mutations in core-binding factor acute myeloid leukemia using high-resolution melting analysis. J Mol Diagn. 2009;11:458-63 pubmed publisher..These findings verify that HRM is a reliable, rapid, and sensitive method for KIT mutation screening. Furthermore, our study corroborates the unfavorable prognosis associated with exon 17 KIT mutations. ..
- Ignatius A, Blessing H, Liedert A, Kaspar D, Kreja L, Friemert B, et al. [Effects of mechanical strain on human osteoblastic precursor cells in type I collagen matrices]. Orthopade. 2004;33:1386-93 pubmed..The application of mechanical load might have a beneficial effect on the quality and quantity of generated bone tissue and might be a important factor in tissue engineering of bone. ..
- Ferguson C, Alpern E, Miclau T, Helms J. Does adult fracture repair recapitulate embryonic skeletal formation?. Mech Dev. 1999;87:57-66 pubmed..Taken together, these data suggest the genetic mechanisms regulating fetal skeletogenesis also regulate adult skeletal regeneration, and point to important regulators of angiogenesis and ossification in bone regeneration. ..
- Bushweller J. CBF--a biophysical perspective. Semin Cell Dev Biol. 2000;11:377-82 pubmed..Determination of the 3D structures of CBFB and the DNA- and CBFB-binding domain of Runx, referred to as the Runt domain, are providing a structural basis for the functioning of the two proteins of CBF. ..
- Liu W, Toyosawa S, Furuichi T, Kanatani N, Yoshida C, Liu Y, et al. Overexpression of Cbfa1 in osteoblasts inhibits osteoblast maturation and causes osteopenia with multiple fractures. J Cell Biol. 2001;155:157-66 pubmed
- Dombret H, Preudhomme C, Boissel N. Core binding factor acute myeloid leukemia (CBF-AML): is high-dose Ara-C (HDAC) consolidation as effective as you think?. Curr Opin Hematol. 2009;16:92-7 pubmed publisher..These new insights in the heterogeneity of CBF-AML suggest that a tailored approach might be preferred to a unique predefined strategy to treat these patients. ..
- Geoffroy V, Kneissel M, Fournier B, Boyde A, Matthias P. High bone resorption in adult aging transgenic mice overexpressing cbfa1/runx2 in cells of the osteoblastic lineage. Mol Cell Biol. 2002;22:6222-33 pubmed
- Kundu M, Javed A, Jeon J, Horner A, Shum L, Eckhaus M, et al. Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat Genet. 2002;32:639-44 pubmed..Our findings raise the possibility that mutations in CBFB may be responsible for some cases of cleidocranial dysplasia that are not linked to mutations in RUNX2. ..
- Lu H, Kraut D, Gerstenfeld L, Graves D. Diabetes interferes with the bone formation by affecting the expression of transcription factors that regulate osteoblast differentiation. Endocrinology. 2003;144:346-52 pubmed