Brian Davis, PhD
"RUNX1 translocation partner 1"; "Cyclin-D-Related Protein"; CDR; "Eight Twenty One Protein"; ETO; "Myeloid Translocation Gene On 8q22"; MTG8; "Acute Myelogenous Leukemia 1 Translocation 1"; AML1T1; "Zinc Finger MYND Domain-Containing Protein 2"; ZMYND2; "Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 1; Cyclin D-Related"; CBFA2T1; AML1-MTG8
Cytoband: 8q21.3 (previously located at 8q22, as represented in the name of one of the WHO disease categories of AML)
The t(8;21)(q22;q22.1), resulting in fusion of RUNXT1 and RUNX1, is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7]. The t(8;21)(q22;q22.1) produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 (RUNX1) gene fused to the 3'-region of the RUNX1T1 gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation.
RUNX1T1 is a member of the human myeloid translocation genes (MTGs). The nuclear MTGs can mediate the formation of complex protein networks among nuclear corepressors (for example Sin3a, N-CoR, SMRT), chromatin-modifying enzymes (for example histone deacetylases), and DNA-binding transcription factors. Repression at target genes by MTG protein complexes is probably required for gene regulation during development and differentiation. Alterations in these genes can disrupt gene regulatory protein networks and can cause of cancers and neurodegeneration . The RUNX1-RUNX1T1 chimeric protein resulting from the t(8;21)(q22;q22.1) is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation.
Common Alteration Types
The t(8;21)(q22;q22), resulting in RUNXT1-RUNX1 fusion, is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7].
|Copy Number Loss||Copy Number Gain||LOH||Loss-of-Function Mutation||Gain-of-Function Mutation||Translocation/Fusion|
RUNX1T1 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
RUNX1T1 by COSMIC - sequence information, expression, catalogue of mutations
RUNX1T1 by St. Jude ProteinPaint mutational landscape and matched expression data.
RUNX1T1 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
RUNX1T1 by My Cancer Genome - brief gene overview
RUNX1T1 by UniProt - protein and molecular structure and function
RUNX1T1 by Pfam - gene and protein structure and function information
RUNX1T1 by GeneCards - general gene information and summaries
RUNX1T1 by NCBI Gene - general gene information and summaries
RUNX1T1 by OMIM - compendium of human genes and genetic phenotypes
RUNX1T1 by LOVD(3) - Leiden Open Variation Database
RUNX1T1 by TICdb - database of Translocation breakpoints In Cancer
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2. Bellissimo DC and Speck NA, (2017). RUNX1 mutations in inherited and sporadic leukemia. Front Cell Dev Biol 5:111, PMID 29326930. 10.3389/fcell.2017.00111.
3. Wang M, et al., (2017). Molecular mutations and their cooccurrences in cytogenetically normal acute myeloid leukemia. Stem Cells Int 6962379, PMID 28197208. doi: 10.1155/2017/6962379.
4. Kamikubo Y, (2018). Genetic compensation of RUNX family transcription factors in leukemia. Cancer Sci (online version ahead of publication), PMID 29883054. doi.org/10.1111/cas.13664.
5. Post SM, et al., (2015). Biology of adult myelocytic leukemia and myelodysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
6. Taylor J, et al., (2017). Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood 130:410-423, PMID 28600336. doi: 10.1182/blood-2017-02-734541.
7. Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p140-141.
8. Rossetti S, et al., (2004). The MTG proteins: chromatin repression players with a passion for networking. Genomics 84:1-9, PMID 15203199. DOI 10.1016/j.ygeno.2004.02.011.
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