RUNX1


Also found in: Wikipedia.

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 ?
An abnormal gene created by the fusion of ETV6 and the RUNX1 gene is one of the most common alterations in childhood ALL and is found in the leukemic cells of 20 to 25 percent of pediatric ALL.
The three most common MPT families in AML represent translocations of the MLL, RUNX1 and NUP98 genes.
These genes include TAL1 and RUNX1, both of which are essential for the development of blood stem cells, and hence to human life.
CpG ID Chromosome Gene cg12803068 7 MYO1G (b) cg22549041 15 CYP1A1 (b) cg18092474 15 CYP1A1 (b) cg04180046 7 MYO1G (b) cg12477880 21 RUNX1 cg05549655 15 CYP1A1 (b) cg11924019 15 CYP1A1 (b) cg23067299 5 AHRR (b) cg22132788 7 MYO1G (b) cg19089201 7 MYO1G (b) cg03346806 8 NA cg25949550 7 CNTNAP2 (b) cg18655025 14 TTC7B cg03991871 5 AHRR cg21161138 5 AHRR cg04598670 7 NAb cg10399789 1 GFI1 cg06338710 1 GFI1 cg09662411 1 GFI1 cg18316974 1 GFI1 cg05575921 5 AHRR cg11715943 6 HLA-DPB2 cg14179389 1 GFI1 (b) cg12876356 1 GFI1 cg18146737 1 GFI1 cg09935388 1 GFI1 CpG ID MoBa newborns (a) DNAm [beta] p-Value difference (%) cg12803068 8.
It only takes a single mutation in the RUNX1 gene in this type of stem cell to send it down the path to becoming a leukemic stem cell.
A key factor driving the leukaemia for one in four ALL patients is a mutation that causes two of their genes, ETV6 and RUNX1, to fuse together.
This left 24 distinct mutations, including 16 missense mutations in these genes: CBL, FLT3, IDH2, KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog), NRAS [neuroblastoma RAS viral (v-ras) oncogene homolog], TP53, RUNX1, SRSF2, TET2, KDM6A [lysine (K)-specific demethylase 6A (also known as UTX)], and ZRSR2.
55,56) The rearrangement produces a fusion transcript between RUNX1 (also known as AML1) and RUNX1T1 (also known as ETO).
Earlier this year, Roche launched a set of sequence-based primer sets co-developed with the MLL for deep genetic variation detection in the TET2, CBL, KRAS, and RUNX1 genes using the GS FLX and GS Junior Systems.
Replication of reported genetic associations of PADI4, FCRL3, SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from metaanalysis of East Asian studies.
The team found that chemicals that increase blood flow in the tails of the embryos also boost activity of the RUNX1 gene, a master regulator of blood stem cells.