RUNX1 Gen

The RUNX1 gene, also called RUNX Family Transcription Factor 1, is a protein-coding gene that encodes a transcription factor (RUNX1) that forms a stabilizing complex with the cofactor CBFB. RUNX1 controls the expression of genes essential for proper development in many cell lines and tissues, including blood, bone, cartilage, hair follicles, and mammary glands. Impaired RUNX1 regulation is associated with many cancers. There is ample evidence that RUNX1 suppresses the aggressiveness of most breast cancer subtypes, especially in the early stages of tumorigenesis (Hong D et al. 2019).

Furthermore, RUNX1 is involved in the formation of hematopoietic stem cells and their differentiation into myeloid and lymphoid lineages. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lineages, often leading to the development of leukemia. In this respect, the detection of RUNX1 mutations in myelodysplastic syndrome should be considered a negative prognostic factor (Cai XH et al. 2020).

Suspected associations with psoriasis could not be confirmed in later studies (Stuart P et al. 2006).

RUNX also appears to play a role in the development of resistance to BRAF V600E inhibitors in melanoma (Giricz O et al (2018).

Diseases associated with RUNX1 include:

• Platelet Disorder, Familial, With Associated Myeloid Malignancy.

And

• Blood Platelet Disease.

An important paralog of this gene is RUNX2.

1. Cai XH et al (2020) Analysis of RUNX1 gene mutation in patients with myelodysplastic syndrome. Zhongguo Shi Yan Xue Ye Xue Za Zhi 28:202-208.
2. Giricz O et al (2018) The RUNX1/IL-34/CSF-1R axis is an autocrinally regulated modulator of resistance to BRAF-V600E inhibition in melanoma. JCI Insight 3:e120422.
3. Hong D et al (2019) RUNX1-dependent mechanisms in biological control and dysregulation in cancer. J Cell Physiol 234:8597-8609.
4. Hong D et al. (2017) Runx1 stabilizes the mammary epithelial cell phenotype and prevents epithelial to mesenchymal transition. Oncotarget 8:17610-17627.
5. Rafei H et al (2019) Hereditary myeloid malignancies. Best Pract Res Clin Haematol 32:163-176.

6. Stuart P et al (2006) Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage. J Med Genet 43:12-17.