RUNX1


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RUNX1

A gene on chromosome 21q22.3 that encodes the alpha subunit of core binding factor (CBF), a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. RUNX1 is thought to be involved in the development of normal haematopoiesis. 

Molecular pathology
Chromosomal translocations involving RUNX1 are well documented and associated with several types of leukaemia.
References in periodicals archive ?
Avapritinib demonstrated strong clinical activity in patients with SRSF2, ASXL1 and/or RUNX1 mutation positive genotypes, who historically have particularly poor prognoses.
The mutations in AML involve epigenetic modifiers (TET2, IDH1/IDH2, DNMT3A, ASXL1, KMT2A, EZH2), activated signaling pathway (FLT3, KRAS, NRAS, KIT), tumor suppressor genes (TP53, WT1), RNA splicing (SF3B1), nucleophosmin mutation (NPM1), and genes coding for transcription-differentiation (CEBPA, RUNX1) (Figure 1) (6-8).
(21) DDX41 germline mutation is considered as a founder mutation, with other additional mutations such as TP53 and RUNX1. (21)
The data suggest that one mutation in any of these pathways is sufficient for the pathogenesis of AML and that certain mutations common in AML (e.g., in DNMT3A, NPM1, CEPBA, IDH1/2, and RUNX1) play a role in the initiation of AML similar to the fusion genes.
Eighty-eight transcription regulators were found in the adipose tissue between 18 vs 24, KLF5, one of activated transcription regulators, which is relevant to cancer, cellular development, cellular growth and proliferation, and this regulator is unregulated FAM110A, MYC, DUSP1, ACTA2, NOTCH1 and PREB, down regulated RUNX1 (Fig.
Next-generation sequencing (NGS) was available in seven patients using a custom-designed 49 genes' panel (Ion S5™ System, Thermo Fisher, San Diego, CA, USA), including the entire coding region of ASXL1, ASXL2, BCOR, BCORL1, BIRC3, BRAF, CALR, CBL, CDKN2A, CSF3R, CSMD1, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA2, IDH1, IDH2, IL7R, JAK1, JAK2, JAK3, KIT, KRAS, MPL, MYD88, NOTCH1, NRAS, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PTEN, PTPN11, RUNX1, SETBP1, SETD2, SF3B1, SH2B3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1 , and ZRSR2 , with a median depth of x2000.
Non-syndromic thrombocytopenias with increased risk of hematologic malignancy are associated with mutations in RUNX1, ANKRD26 and ETV6, which lead to thrombocytopenia with mild to moderate bleeding and no other syndromic associations.
Mantel et al., "Transcription factors RUNX1 and RUNX3 in the induction and suppressive function of Foxp3+ inducible regulatory T cells," The Journal of Experimental Medicine, vol.
Lu et al., "Runx1 directly promotes proliferation of hair follicle stem cells and epithelial tumor formation in mouse skin," Molecular and Cellular Biology, vol.
Deng et al., "LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a predictor for esophageal cancer and prognosis," Oncogene, vol.
Tang et al., "MicroRNA-9 regulates the differentiation and function of myeloid-derived suppressor cells via targeting Runx1," Journal of Immunology, vol.