Atlas of Genetics and Cytogenetics in Oncology and Haematology
ETO (eigth twenty one)
RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related))
| Identity |
| Other names | MTG8 |
| CDR (cyclin D related gene), | |
| AML1T1 (AML1 translocated to, 1), | |
| CBFA2T1 (CBFA2 translocated to, 1) | |
| HGNC (Hugo) | RUNX1T1 |
| Location | 8q22 |
| Location_base_pair | Starts at 93040328 and ends at 93144367 bp from pter ( according to hg18-Mar_2006) [Mapping] |
 | |
| ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi | |
| 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 |
| Entity | t(8;21)(q24;q22)/ANLL. --> AML1 - ETO |
| Disease | ANLL, M2 mostly |
| Prognosis | CR is obtained; median survival (1.5-2 yrs) is the range with other ANLL 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 |
| External links |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 10-1997 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . ETO (eigth twenty one); RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related)). Atlas Genet Cytogenet Oncol Haematol. October 1997 . URL : http://AtlasGeneticsOncology.org/Genes/ETO.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:38:08 CEST 2009 |
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