Download Gene Section ETO (eigth twenty one) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Mini Review
ETO (eigth twenty one)
Jean-Loup Huret
Genetics, Department of Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021
Poitiers, France
Published in Atlas Database: October 1997
Online version is available at: http://AtlasGeneticsOncology.org/Genes/ETO.html
DOI: 10.4267/2042/32043
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1997 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Expression
Identity
Mainly in the brain; not in hematopoietic cells
(debated).
Other names: MTG8; CDR (cyclin D related gene);
AML1T1 (AML1 translocated to, 1); CBFA2T1
(CBFA2 translocated to, 1)
Location: 8q22
Localisation
Nuclear (probable).
Function
Putative transcription factor.
Homology
99% identical to the murine homolog.
Implicated in
ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy
Mariano Rocchi, Resources for Molecular Cytogenetics.
Laboratories willing to validate the probes are welcome:
contact M Rocchi.
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 agreement 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 retains the ability to recognize the
AML1 concensus binding site (→ negative dominant
competitor with the normal AML1) and to dimerize
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).
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
46
ETO (eigth twenty one)
Huret JL
with the cbtb/CBTB subunit → probable altered
transcriptional regulation of normal AML1 target
genes.
Nucifora G, Rowley JD. AML1 and the 8;21 and 3;21
translocations in acute and chronic myeloid leukemia. Blood
1995 Jul 1;86(1):1-14. (Review).
References
This article should be referenced as such:
Huret JL. ETO (eigth twenty one). Atlas Genet Cytogenet
Oncol Haematol.1997;1(2):46-47.
Ohki M. Molecular basis of the t(8;21) translocation in acute
myeloid leukemia. Semin Cancer Biol 1993 Dec;4(6):369-75.
(Review).
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
47