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RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related))

Written1997-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other aliasETO (eigth twenty one)
MTG8
CDR (cyclin D related gene),
AML1T1 (AML1 translocated to, 1),
CBFA2T1 (CBFA2 translocated to, 1)
LocusID (NCBI) 862
Atlas_Id 26
Location 8q21.3  [Link to chromosome band 8q21]
Location_base_pair Starts at and ends at bp from pter
 
  ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GAD1 (2q31.1) / RUNX1T1 (8q21.3)KMT2A (11q23.3) / RUNX1T1 (8q21.3)LIMCH1 (4p13) / RUNX1T1 (8q21.3)
MGAT5 (2q21.2) / RUNX1T1 (8q21.3)MVB12B (9q33.3) / RUNX1T1 (8q21.3)RUNX1 (21q22.12) / RUNX1T1 (8q21.3)
RUNX1T1 (8q21.3) / BBX (3q13.12)RUNX1T1 (8q21.3) / KMT2A (11q23.3)RUNX1T1 (8q21.3) / MALAT1 (11q13.1)
RUNX1T1 (8q21.3) / RUNX1 (21q22.12)RUNX1T1 (8q21.3) / RUNX1T1 (8q21.3)RUNX1T1 (8q21.3) / STXBP5 (6q24.3)
RUNX1T1 (8q21.3) / TANC2 (17q23.2)RUNX1T1 (8q21.3) / TRIQK (8q22.1)

DNA/RNA

Transcription from telomere to centromere; alternate slicing at the 5' end -> MTG8A and MTG8B

Protein

 
  Protein Diagram
Description 577 or 604 amino acids ( MTG8A and MTG8B respectively), with a different N-term; 3 proline rich domains (as in transcription factors), 2 of which being also serine and threonine rich (as phosphorylation sites) and 2 Zn fingers (cys.cys/cys.cys and cys.cys/his.cys), a PEST region at the C terminus (conferring rapid intracellular degradation)
Expression mainly in the brain; not in hematopoietic cells (debated)
Localisation nuclear (probable)
Function putative transcription factor
Homology 99% identical to the murine homolog

Implicated in

Note
  
Entity t(8;21)(q24;q22)/AML. --> AML1 - RUNX1T1
Disease AML, M2 mostly
Prognosis CR is obtained; median survival (1.5-2 yrs) is the range with other AML or relatively better
Cytogenetics additional anomalies are frequent: loss of Y or X chromosome, del(7q)/-7, +8, del (9q); complex t(8;21;Var) are known and have revealed that the crucial event lies on der(8); in agrement with the fact that both genes are transcribed from telomere to centromere
Hybrid/Mutated Gene 5' AML1 - 3' ETO
Abnormal Protein N-term AML1 with the Runt domain fused to the nearly entire ETO
Oncogenesis the fusion protein retain the ability to recognize the AML1 concensus binding site (--> negative dominant competitor with the normal AML1) and to dimerize with the cbtb/CBTB subunit --> probable altered transcriptional regulation of normal AML1 target genes
  

Bibliography

AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia.
Nucifora G, Rowley JD
Blood. 1995 ; 86 (1) : 1-14.
PMID 7795214
 
Molecular basis of the t(8;21) translocation in acute myeloid leukaemia.
Ohki M
Seminars in cancer biology. 1993 ; 4 (6) : 369-375.
PMID 8142622
 

Citation

This paper should be referenced as such :
Huret, JL
ETO (eigth twenty one)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):46-47.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ETOID26.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 11 ]
  t(8;21)(q22;q22) RUNX1/RUNX1T1
21q22 rearrangements (RUNX1) in treatment related leukemia
Classification of acute myeloid leukemias
i(Xq10) in female patients
Myeloid sarcoma
r(8)
der(21)t(1;21)(q11-12;p11-13) and der(21)t(1;21)(q21-32;p11-13)
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia
t(9;17)(p13;p12) PAX5/NCOR1
t(16;21)(q24;q22) RUNX1/CBFA2T3


External links

Nomenclature
Cards
AtlasETOID26.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)862
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:35:37 CEST 2018

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