Gene Symbol: AML1
Description: runt related transcription factor 1
Alias: AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha, runt-related transcription factor 1, AML1-EVI-1 fusion protein, PEA2-alpha B, PEBP2-alpha B, SL3-3 enhancer factor 1 alpha B subunit, SL3/AKV core-binding factor alpha B subunit, acute myeloid leukemia 1 protein, core-binding factor, runt domain, alpha subunit 2, oncogene AML-1, polyomavirus enhancer-binding protein 2 alpha B subunit
Species: human
Products:     AML1

Top Publications

  1. Zhang J, Kalkum M, Yamamura S, Chait B, Roeder R. E protein silencing by the leukemogenic AML1-ETO fusion protein. Science. 2004;305:1286-9 pubmed
    The AML1-ETO fusion protein, generated by the t(8;21) chromosomal translocation, is causally involved in nearly 15% of acute myeloid leukemia (AML) cases...
  2. Dunne J, Cullmann C, Ritter M, Soria N, Drescher B, Debernardi S, et al. siRNA-mediated AML1/MTG8 depletion affects differentiation and proliferation-associated gene expression in t(8;21)-positive cell lines and primary AML blasts. Oncogene. 2006;25:6067-78 pubmed
    ..The resultant fusion protein AML1/MTG8 interferes with haematopoietic gene expression and is an important regulator of leukaemogenesis...
  3. Torrano V, Procter J, Cardus P, Greaves M, Ford A. ETV6-RUNX1 promotes survival of early B lineage progenitor cells via a dysregulated erythropoietin receptor. Blood. 2011;118:4910-8 pubmed publisher
    ..These data support the contention that ETV6-RUNX1 directly activates ectopic expression of a functional EPOR and provides cell survival signals that may contribute critically to persistence of covert premalignant clones in children. ..
  4. Owen C, Toze C, Koochin A, Forrest D, Smith C, Stevens J, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112:4639-45 pubmed publisher
    ..Therefore, it would appear prudent to screen young patients with MDS/AML for RUNX1 mutation, before consideration of sibling hematopoietic stem cell transplantation. ..
  5. Ptasinska A, Assi S, Mannari D, James S, Williamson D, Dunne J, et al. Depletion of RUNX1/ETO in t(8;21) AML cells leads to genome-wide changes in chromatin structure and transcription factor binding. Leukemia. 2012;26:1829-41 pubmed publisher
    ..This demonstrates that RUNX1/ETO represents a pivotal therapeutic target in AML. ..
  6. Krapf G, Kaindl U, Kilbey A, Fuka G, Inthal A, Joas R, et al. ETV6/RUNX1 abrogates mitotic checkpoint function and targets its key player MAD2L1. Oncogene. 2010;29:3307-12 pubmed publisher
    ..Although tetraploidy is an almost exclusive feature of E/R-positive leukemias, its rarity within this particular subgroup implies that further yet unknown factors are required for its manifestation. ..
  7. Tijssen M, Cvejic A, Joshi A, Hannah R, Ferreira R, Forrai A, et al. Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators. Dev Cell. 2011;20:597-609 pubmed publisher
    ..Multifactor ChIP-Seq analysis in primary human cells coupled with a high-throughput in vivo perturbation screen therefore offers a powerful strategy to identify essential regulators of complex mammalian differentiation processes...
  8. Auewarakul C, Leecharendkeat A, Tocharoentanaphol C, Promsuwicha O, Sritana N, Thongnoppakhun W. AML1 mutation and its coexistence with different transcription factor gene families in de novo acute myeloid leukemia (AML): redundancy or synergism. Haematologica. 2007;92:861-2 pubmed
    b>AML1 mutations were identified in 6.3% of AML patients with chromosomal translocations involving CBF, PML-RARalpha, HOX, or ETS transcription factor (TF) gene families. Rare chromosomal abnormalities, t(16;21) and t(7;11), were also found...
  9. Gaidzik V, Bullinger L, Schlenk R, Zimmermann A, Röck J, Paschka P, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol. 2011;29:1364-72 pubmed publisher
    ..0001). AML with RUNX1 mutations are characterized by distinct genetic properties and are associated with resistance to therapy and inferior outcome. ..

More Information


  1. Ben Ami O, Pencovich N, Lotem J, Levanon D, Groner Y. A regulatory interplay between miR-27a and Runx1 during megakaryopoiesis. Proc Natl Acad Sci U S A. 2009;106:238-43 pubmed publisher
  2. Cammenga J, Niebuhr B, Horn S, Bergholz U, Putz G, Buchholz F, et al. RUNX1 DNA-binding mutants, associated with minimally differentiated acute myelogenous leukemia, disrupt myeloid differentiation. Cancer Res. 2007;67:537-45 pubmed
    ..We propose that RDB mutants antagonize Runx1 function in early progenitors by disrupting a critical balance between DNA-binding-independent and DNA-binding-dependent signaling. ..
  3. Zhang L, Fried F, Guo H, Friedman A. Cyclin-dependent kinase phosphorylation of RUNX1/AML1 on 3 sites increases transactivation potency and stimulates cell proliferation. Blood. 2008;111:1193-200 pubmed
    RUNX1/AML1 regulates lineage-specific genes during hematopoiesis and stimulates G1 cell-cycle progression. Within RUNX1, S48, S303, and S424 fit the cyclin-dependent kinase (cdk) phosphorylation consensus, (S/T)PX(R/K)...
  4. Wee H, Voon D, Bae S, Ito Y. PEBP2-beta/CBF-beta-dependent phosphorylation of RUNX1 and p300 by HIPK2: implications for leukemogenesis. Blood. 2008;112:3777-87 pubmed publisher
    The heterodimeric transcription factor RUNX1/PEBP2-beta (also known as AML1/CBF-beta) is essential for definitive hematopoiesis...
  5. Kuster L, Grausenburger R, Fuka G, Kaindl U, Krapf G, Inthal A, et al. ETV6/RUNX1-positive relapses evolve from an ancestral clone and frequently acquire deletions of genes implicated in glucocorticoid signaling. Blood. 2011;117:2658-67 pubmed publisher
    ..These findings implicate glucocorticoid-associated drug resistance in ETV6/RUNX1-positive relapse pathogenesis and therefore might help to guide future therapies. ..
  6. Jacob B, Osato M, Yamashita N, Wang C, Taniuchi I, Littman D, et al. Stem cell exhaustion due to Runx1 deficiency is prevented by Evi5 activation in leukemogenesis. Blood. 2010;115:1610-20 pubmed publisher
    The RUNX1/AML1 gene is the most frequently mutated gene in human leukemia...
  7. Satoh Y, Matsumura I, Tanaka H, Harada H, Harada Y, Matsui K, et al. C-terminal mutation of RUNX1 attenuates the DNA-damage repair response in hematopoietic stem cells. Leukemia. 2012;26:303-11 pubmed publisher
    ..Together, these results suggest Gadd45a dysfunction due to RUNX1 mutations can cause additional mutation(s) required for multi-step leukemogenesis. ..
  8. Palii C, Perez Iratxeta C, Yao Z, Cao Y, Dai F, Davison J, et al. Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages. EMBO J. 2011;30:494-509 pubmed publisher
  9. Ding Y, Harada Y, Imagawa J, Kimura A, Harada H. AML1/RUNX1 point mutation possibly promotes leukemic transformation in myeloproliferative neoplasms. Blood. 2009;114:5201-5 pubmed publisher
    ..Among 18 patients who progressed to leukemia, AML1/RUNX1 mutations were detected in 5 patients at the LT but in none at the CP...
  10. Gessner A, Thomas M, Castro P, Büchler L, Scholz A, Brummendorf T, et al. Leukemic fusion genes MLL/AF4 and AML1/MTG8 support leukemic self-renewal by controlling expression of the telomerase subunit TERT. Leukemia. 2010;24:1751-9 pubmed publisher
    ..We examined the influence of MLL/AF4 and AML1/MTG8 fusion genes on the expression of TERT coding for the telomerase protein subunit, and subsequently telomerase ..
  11. Soma T, Ishimatsu Tsuji Y, Tajima M, Kishimoto J. Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles. J Dermatol Sci. 2006;41:221-4 pubmed
  12. Sakakura C, Hagiwara A, Miyagawa K, Nakashima S, Yoshikawa T, Kin S, et al. Frequent downregulation of the runt domain transcription factors RUNX1, RUNX3 and their cofactor CBFB in gastric cancer. Int J Cancer. 2005;113:221-8 pubmed
    ..These findings suggest that RUNX1 and CBFBeta in addition to RUNX3 play some roles in gastric cancers and that roles of RUNX gene family in gastric cancer are more widespread and complex than previously realized. ..
  13. Challen G, Goodell M. Runx1 isoforms show differential expression patterns during hematopoietic development but have similar functional effects in adult hematopoietic stem cells. Exp Hematol. 2010;38:403-16 pubmed publisher
  14. Keita M, Bachvarova M, Morin C, Plante M, Gregoire J, Renaud M, et al. The RUNX1 transcription factor is expressed in serous epithelial ovarian carcinoma and contributes to cell proliferation, migration and invasion. Cell Cycle. 2013;12:972-86 pubmed publisher
    ..Further studies are needed to more completely elucidate the functional implications of RUNX1 and other members of the RUNX gene family in ovarian tumorigenesis. ..
  15. Gelsi Boyer V, Trouplin V, Adélaïde J, Aceto N, Remy V, Pinson S, et al. Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. BMC Cancer. 2008;8:299 pubmed publisher
    ..We detected RAS pathway mutations and RUNX1 alterations. The latter included a new cryptic USP16-RUNX1 fusion. In some samples, two alterations coexisted already at this early chronic stage. ..
  16. Wu C, Hu Z, He Z, Jia W, Wang F, Zhou Y, et al. Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Nat Genet. 2011;43:679-84 pubmed publisher
    ..92 × 10(-56)). These findings highlight the involvement of multiple genetic loci and gene-environment interaction in the development of esophageal cancer. ..
  17. Liu Y, Chen W, Gaudet J, Cheney M, Roudaia L, Cierpicki T, et al. Structural basis for recognition of SMRT/N-CoR by the MYND domain and its contribution to AML1/ETO's activity. Cancer Cell. 2007;11:483-97 pubmed
    b>AML1/ETO results from the t(8;21) associated with 12%-15% of acute myeloid leukemia...
  18. Liu H, Carlsson L, Grundström T. Identification of an N-terminal transactivation domain of Runx1 that separates molecular function from global differentiation function. J Biol Chem. 2006;281:25659-69 pubmed
    RUNX1, or AML1, is a transcription factor that is the most frequent target for chromosomal gene translocations in acute leukemias...
  19. Diakos C, Krapf G, Gerner C, Inthal A, Lemberger C, Ban J, et al. RNAi-mediated silencing of TEL/AML1 reveals a heat-shock protein- and survivin-dependent mechanism for survival. Blood. 2007;109:2607-10 pubmed
    The TEL/AML1 fusion gene results from the most frequent t(12;21)(p13;q22) translocation in childhood acute lymphoblastic leukemia (ALL)...
  20. Wildonger J, Mann R. The t(8;21) translocation converts AML1 into a constitutive transcriptional repressor. Development. 2005;132:2263-72 pubmed
    ..Two genes, AML1 and ETO, are fused together at the translocation breakpoint, resulting in the expression of a chimeric protein ..
  21. Kozu T, Fukuyama T, Yamami T, Akagi K, Kaneko Y. MYND-less splice variants of AML1-MTG8 (RUNX1-CBFA2T1) are expressed in leukemia with t(8;21). Genes Chromosomes Cancer. 2005;43:45-53 pubmed
    The AML1-MTG8 fusion gene is generated by chromosome translocation t(8;21), which is frequently observed in acute myeloid leukemia...
  22. Krejci O, Wunderlich M, Geiger H, Chou F, Schleimer D, Jansen M, et al. p53 signaling in response to increased DNA damage sensitizes AML1-ETO cells to stress-induced death. Blood. 2008;111:2190-9 pubmed
    Chromosomal translocation (8;21) is present in 10% to 15% of patients with acute myeloid leukemia. Expression of the AML1-ETO (AE) fusion protein alone is not sufficient to induce leukemia, but the nature of the additional genetic ..
  23. Fazi F, Racanicchi S, Zardo G, Starnes L, Mancini M, Travaglini L, et al. Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein. Cancer Cell. 2007;12:457-66 pubmed
    ..Analysis of patient's primary leukemia blasts revealed that those carrying the t(8;21) generating AML1/ETO, the most common acute myeloid leukemia-associated fusion protein, display low levels of a microRNA-223 (miR-..
  24. Lu Y, Peng Z, Yuan T, Yin Q, Xia L, Chen G. Multi-sites cleavage of leukemogenic AML1-ETO fusion protein by caspase-3 and its contribution to increased apoptotic sensitivity. Leukemia. 2008;22:378-86 pubmed
    Leukemia-associated fusion protein AML1-ETO is a product of the chromosome translocation (8;21) frequently occurred in acute myeloid leukemia (AML)...
  25. Lam K, Zhang D. RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis. Front Biosci (Landmark Ed). 2012;17:1120-39 pubmed
    ..The RUNX1-ETO fusion protein is found in approximately 12% of all AML patients. In this review, we detail the structural features, functions, and models used to study both RUNX1 and RUNX1-ETO in hematopoiesis over the past two decades. ..
  26. DeKelver R, Yan M, Ahn E, Shia W, Speck N, Zhang D. Attenuation of AML1-ETO cellular dysregulation correlates with increased leukemogenic potential. Blood. 2013;121:3714-7 pubmed publisher
    b>AML1-ETO (RUNX1-ETO) fusion proteins are generated by the 8;21 translocation, commonly found in acute myeloid leukemia, which fuses the AML1 (RUNX1) and ETO (MTG8, RUNX1T1) genes...
  27. Wei H, Liu X, Xiong X, Wang Y, Rao Q, Wang M, et al. AML1-ETO interacts with Sp1 and antagonizes Sp1 transactivity through RUNT domain. FEBS Lett. 2008;582:2167-72 pubmed publisher
    b>AML1-ETO fusion protein is observed in approximately 12% of acute myeloid leukemia. In the present research, we found that AML1-ETO is able to inhibit Sp1 transactivity...
  28. Brioschi M, Fischer J, Cairoli R, Rossetti S, Pezzetti L, Nichelatti M, et al. Down-regulation of microRNAs 222/221 in acute myelogenous leukemia with deranged core-binding factor subunits. Neoplasia. 2010;12:866-76 pubmed
    ..that microRNA (MIR) 222/221 targets the 3' untranslated region of the KIT messenger RNA and our observation that AML1 can bind the MIR-222/221 promoter, we hypothesized that MIR-222/221 represents the link between CBF and KIT...
  29. Janes K. RUNX1 and its understudied role in breast cancer. Cell Cycle. 2011;10:3461-5 pubmed publisher
    ..FOXOs could, therefore, represent a synthetic-lethal target for RUNX1-deficient tumors if the hypothesized link to breast cancer is correct. ..
  30. Shia W, Okumura A, Yan M, Sarkeshik A, Lo M, Matsuura S, et al. PRMT1 interacts with AML1-ETO to promote its transcriptional activation and progenitor cell proliferative potential. Blood. 2012;119:4953-62 pubmed publisher
    Fusion protein AML1-ETO, resulting from t(8;21) translocation, is highly related to leukemia development. It has been reported that full-length AML1-ETO blocks AML1 function and requires additional mutagenic events to promote leukemia...
  31. Tang J, Hou H, Chen C, Liu C, Chou W, Tseng M, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood. 2009;114:5352-61 pubmed publisher
    Somatic mutation of the AML1/RUNX1(RUNX1) gene is seen in acute myeloid leukemia (AML) M0 subtype and in AML transformed from myelodysplastic syndrome, but the impact of this gene mutation on survival in AML patients remains unclear...
  32. Jiao B, Wu C, Liang Y, Chen H, Xiong S, Chen B, et al. AML1-ETO9a is correlated with C-KIT overexpression/mutations and indicates poor disease outcome in t(8;21) acute myeloid leukemia-M2. Leukemia. 2009;23:1598-604 pubmed publisher
    b>AML1-ETO fusion gene is generated from chromosomal translocation t(8;21) mainly in acute myeloid leukemia M2 subtype (AML-M2). Its spliced variant transcript, AML1-ETO9a, rapidly induces leukemia in murine model...
  33. Brady G, Whiteman H, Spender L, Farrell P. Downregulation of RUNX1 by RUNX3 requires the RUNX3 VWRPY sequence and is essential for Epstein-Barr virus-driven B-cell proliferation. J Virol. 2009;83:6909-16 pubmed publisher
    ..The results demonstrate the importance of RUNX3-mediated repression of RUNX1 for EBV-driven B-cell proliferation and identify functional differences between human RUNX family proteins. ..
  34. Ono M, Yaguchi H, Ohkura N, Kitabayashi I, Nagamura Y, Nomura T, et al. Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1. Nature. 2007;446:685-9 pubmed
    ..Here we show that the transcription factor AML1 (acute myeloid leukaemia 1)/Runx1 (Runt-related transcription factor 1), which is crucially required for normal ..
  35. Berg T, Fliegauf M, Burger J, Staege M, Liu S, Martinez N, et al. Transcriptional upregulation of p21/WAF/Cip1 in myeloid leukemic blasts expressing AML1-ETO. Haematologica. 2008;93:1728-33 pubmed publisher
    An inducible model for conditional expression of AML1-ETO in myeloid U-937 cells was generated previously to determine cellular effects of AML1-ETO and to identify target genes...
  36. Fuka G, Kantner H, Grausenburger R, Inthal A, Bauer E, Krapf G, et al. Silencing of ETV6/RUNX1 abrogates PI3K/AKT/mTOR signaling and impairs reconstitution of leukemia in xenografts. Leukemia. 2012;26:927-33 pubmed publisher
    ..Importantly, these results provide a first rationale and justification for targeting the fusion gene and the PI3K/AKT/mTOR pathway therapeutically. ..
  37. Huang G, Zhao X, Wang L, Elf S, Xu H, Zhao X, et al. The ability of MLL to bind RUNX1 and methylate H3K4 at PU.1 regulatory regions is impaired by MDS/AML-associated RUNX1/AML1 mutations. Blood. 2011;118:6544-52 pubmed publisher
    ..We identified a physical and functional interaction between RUNX1 (AML1) and MLL and show that both are required to maintain the histone lysine 4 trimethyl mark (H3K4me3) at 2 critical ..
  38. Rocquain J, Carbuccia N, Trouplin V, Raynaud S, Murati A, Nezri M, et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer. 2010;10:401 pubmed publisher
  39. Pimanda J, Donaldson I, de Bruijn M, Kinston S, Knezevic K, Huckle L, et al. The SCL transcriptional network and BMP signaling pathway interact to regulate RUNX1 activity. Proc Natl Acad Sci U S A. 2007;104:840-5 pubmed
    ..Taken together, our results integrate three key determinants of HSC development; the Scl transcriptional network, Runx1 activity, and the Bmp4/Smad signaling pathway. ..
  40. Gandemer V, Rio A, de Tayrac M, Sibut V, Mottier S, Ly Sunnaram B, et al. Five distinct biological processes and 14 differentially expressed genes characterize TEL/AML1-positive leukemia. BMC Genomics. 2007;8:385 pubmed
    ..This rearrangement results in the fusion of ETV6 (TEL) and RUNX1 (AML1) genes and defines a relatively uniform category, although only some patients suffer very late relapse...
  41. Gardini A, Cesaroni M, Luzi L, Okumura A, Biggs J, Minardi S, et al. AML1/ETO oncoprotein is directed to AML1 binding regions and co-localizes with AML1 and HEB on its targets. PLoS Genet. 2008;4:e1000275 pubmed publisher
    A reciprocal translocation involving chromosomes 8 and 21 generates the AML1/ETO oncogenic transcription factor that initiates acute myeloid leukemia by recruiting co-repressor complexes to DNA...
  42. Okumura A, Peterson L, Okumura F, Boyapati A, Zhang D. t(8;21)(q22;q22) Fusion proteins preferentially bind to duplicated AML1/RUNX1 DNA-binding sequences to differentially regulate gene expression. Blood. 2008;112:1392-401 pubmed publisher
    ..It generates fusion proteins between AML1 and ETO...
  43. Scheitz C, Lee T, McDermitt D, Tumbar T. Defining a tissue stem cell-driven Runx1/Stat3 signalling axis in epithelial cancer. EMBO J. 2012;31:4124-39 pubmed publisher
    ..Here, we uncover the transcription factor Runx1/AML1, a known haematopoietic and leukaemia factor, albeit dispensable for normal adult SC homeostasis, as being ..
  44. Wong W, Kurokawa M, Satake M, Kohu K. Down-regulation of Runx1 expression by TCR signal involves an autoregulatory mechanism and contributes to IL-2 production. J Biol Chem. 2011;286:11110-8 pubmed publisher
  45. Fujimoto T, Anderson K, Jacobsen S, Nishikawa S, Nerlov C. Cdk6 blocks myeloid differentiation by interfering with Runx1 DNA binding and Runx1-C/EBPalpha interaction. EMBO J. 2007;26:2361-70 pubmed
    ..Since Runx transcription factors play central roles in hematopoietic, neuronal and osteogenic lineages, this novel, noncanonical Cdk6 function may control terminal differentiation in multiple tissues and cell types. ..
  46. Mendler J, Maharry K, Radmacher M, Mrozek K, Becker H, Metzeler K, et al. RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures. J Clin Oncol. 2012;30:3109-18 pubmed publisher
    ..RUNX1-mutated blasts have molecular features of primitive hematopoietic and lymphoid progenitors, potentially leading to novel therapeutic approaches. ..
  47. Xu G, Kanezaki R, Toki T, Watanabe S, Takahashi Y, Terui K, et al. Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome. Leukemia. 2006;20:1002-8 pubmed
    ..Thus, our data indicate that physical interaction and synergy between GATA1 and RUNX1 are retained in DS-AMKL, although it is still possible that increased RUNX1 activity plays a role in the development of leukemia in DS. ..
  48. Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche Lestienne C, Boissel N, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood. 2009;113:5583-7 pubmed publisher
    ..Although haploinsufficiency of RUNX1 causes FPD, our findings suggest that a second genetic event involving RUNX1 is often associated with progression to AML. ..
  49. Diakos C, Zhong S, Xiao Y, Zhou M, Vasconcelos G, Krapf G, et al. TEL-AML1 regulation of survivin and apoptosis via miRNA-494 and miRNA-320a. Blood. 2010;116:4885-93 pubmed publisher
    ..We explored the impact of TEL-AML1 (ETV6-RUNX1), the most common fusion protein in childhood leukemia, on miRNA expression and the leukemic phenotype...
  50. Stender J, Kim K, Charn T, Komm B, Chang K, Kraus W, et al. Genome-wide analysis of estrogen receptor alpha DNA binding and tethering mechanisms identifies Runx1 as a novel tethering factor in receptor-mediated transcriptional activation. Mol Cell Biol. 2010;30:3943-55 pubmed publisher
  51. ENGEL M, Hiebert S. Proleukemic RUNX1 and CBFbeta mutations in the pathogenesis of acute leukemia. Cancer Treat Res. 2010;145:127-47 pubmed publisher
    ..Here we present an overview of the structural features of RUNX1/CBFbeta and their derivatives, their roles in transcriptional control, and their contributions to normal and malignant hematopoiesis. ..
  52. Li Y, Gao L, Luo X, Wang L, Gao X, Wang W, et al. Epigenetic silencing of microRNA-193a contributes to leukemogenesis in t(8;21) acute myeloid leukemia by activating the PTEN/PI3K signal pathway. Blood. 2013;121:499-509 pubmed publisher
    ..The biologic and clinical significance of microRNA dysregulation associated with AML1/ETO expressed in t(8;21) AML is unknown...
  53. Montero Ruiz O, Alcántara Ortigoza M, Betancourt M, Juárez Velázquez R, González Márquez H, Pérez Vera P. Expression of RUNX1 isoforms and its target gene BLK in childhood acute lymphoblastic leukemia. Leuk Res. 2012;36:1105-11 pubmed publisher
    ..Only expression of the total RUNT domain-containing isoforms and BLK presented positive correlation. Results suggest a more complex role of RUNX1 in leukemogenesis than the proposed antagonism between the isoforms. ..
  54. Fontana L, Pelosi E, Greco P, Racanicchi S, Testa U, Liuzzi F, et al. MicroRNAs 17-5p-20a-106a control monocytopoiesis through AML1 targeting and M-CSF receptor upregulation. Nat Cell Biol. 2007;9:775-87 pubmed
    ..progenitor cells these miRNAs are downregulated, whereas the transcription factor acute myeloid leukaemia-1 (AML1; also known as Runt-related transcription factor 1, Runx1) is upregulated at protein but not mRNA level...
  55. Chou F, Wunderlich M, Griesinger A, Mulloy J. N-Ras(G12D) induces features of stepwise transformation in preleukemic human umbilical cord blood cultures expressing the AML1-ETO fusion gene. Blood. 2011;117:2237-40 pubmed publisher
    b>AML1-ETO (AE) is a fusion product of t(8;21) observed in 40% French-American-British M2 type of acute myeloid leukemia (AML). Clinical data suggest that Ras mutation is a frequent cooperating event in t(8;21) AML...
  56. Fuka G, Kauer M, Kofler R, Haas O, Panzer Grümayer R. The leukemia-specific fusion gene ETV6/RUNX1 perturbs distinct key biological functions primarily by gene repression. PLoS ONE. 2011;6:e26348 pubmed publisher
    ETV6/RUNX1 (E/R) (also known as TEL/AML1) is the most frequent gene fusion in childhood acute lymphoblastic leukemia (ALL) and also most likely the crucial factor for disease initiation; its role in leukemia propagation and maintenance, ..
  57. Hong D, Gupta R, Ancliff P, Atzberger A, Brown J, Soneji S, et al. Initiating and cancer-propagating cells in TEL-AML1-associated childhood leukemia. Science. 2008;319:336-9 pubmed publisher
    ..precursor-B cell acute lymphoblastic leukemia that is characterized by a chromosomal translocation generating a TEL-AML1 fusion gene...
  58. Wang L, Gural A, Sun X, Zhao X, Perna F, Huang G, et al. The leukemogenicity of AML1-ETO is dependent on site-specific lysine acetylation. Science. 2011;333:765-9 pubmed publisher
    ..We found that AML1-ETO, the fusion protein generated by the t(8;21) translocation, is acetylated by the transcriptional coactivator ..
  59. Reed Inderbitzin E, Moreno Miralles I, Vanden Eynden S, Xie J, Lutterbach B, Durst Goodwin K, et al. RUNX1 associates with histone deacetylases and SUV39H1 to repress transcription. Oncogene. 2006;25:5777-86 pubmed
    RUNX1 (AML1) is a gene that is frequently disrupted by chromosomal translocations in acute leukemia. Like its Drosophila homolog Runt, RUNX1 both activates and represses transcription...
  60. Spender L, Whiteman H, Karstegl C, Farrell P. Transcriptional cross-regulation of RUNX1 by RUNX3 in human B cells. Oncogene. 2005;24:1873-81 pubmed
  61. Hoi C, Lee S, Lu S, McDermitt D, Osorio K, Piskun C, et al. Runx1 directly promotes proliferation of hair follicle stem cells and epithelial tumor formation in mouse skin. Mol Cell Biol. 2010;30:2518-36 pubmed publisher
    Runx1/AML1 is a transcription factor implicated in tissue stem cell regulation and belongs to the small Runx family of cancer genes...
  62. Wong W, Kohu K, Nakamura A, Ebina M, Kikuchi T, Tazawa R, et al. Runx1 deficiency in CD4+ T cells causes fatal autoimmune inflammatory lung disease due to spontaneous hyperactivation of cells. J Immunol. 2012;188:5408-20 pubmed publisher
    ..Our data indicate that Runx1 plays an essential role in repressing the transcription of cytokine genes in naive CD4(+) T cells and, thereby, maintains cell quiescence. ..
  63. Wichmann C, Becker Y, Chen Wichmann L, Vogel V, Vojtkova A, Herglotz J, et al. Dimer-tetramer transition controls RUNX1/ETO leukemogenic activity. Blood. 2010;116:603-13 pubmed publisher
    ..Our data reveal the existence of an essential structural motif (hot spot) at the NHR2 dimer-tetramer interface, suitable for a molecular intervention in t(8;21) leukemias. ..
  64. Theriault F, Nuthall H, Dong Z, Lo R, Barnabe Heider F, Miller F, et al. Role for Runx1 in the proliferation and neuronal differentiation of selected progenitor cells in the mammalian nervous system. J Neurosci. 2005;25:2050-61 pubmed
    ..Together, these findings suggest a previously unrecognized role for Runx1 in coordinating the proliferation and neuronal differentiation of selected populations of neural progenitors. ..
  65. Aho T, Sandholm J, Peltola K, Ito Y, Koskinen P. Pim-1 kinase phosphorylates RUNX family transcription factors and enhances their activity. BMC Cell Biol. 2006;7:21 pubmed