Download Leukaemia Section t(3;11)(q25;q23) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(3;11)(q25;q23)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: February 2000
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t311GMPSID1173.html
DOI: 10.4267/2042/37600
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Protein
431 kDa; contains two DNA binding motifs (a AT
hook, and Zinc fingers), a DNA methyl transferase
motif, a bromodomain; transcriptional regulatory
factor; nuclear localisation.
Clinics and pathology
Disease
Treatment related acute non lymphoblastic leukemia.
Phenotype/cell stem origin
Result of the chromosomal
anomaly
M4 ANLL.
Etiology
One case, a 13 yr old boy; occurred 9 yrs after
treatment for neuroblastoma with antitopoisomerase II.
Hybrid gene
Genes involved and proteins
Description
Fusion of MLL exon 7 to GMPS.
GMPS
References
Location
3q24
DNA/RNA
2.2 kb mRNA.
Protein
76 kDa; enzyme of the de novo synthesis of guanine
nucleotides: amidotransferase that catalyzes the
amination of xanthosine 5 prime monophosphate to
form GMP.
Hirst M, Haliday E, Nakamura J, Lou L. Human GMP
synthetase. Protein purification, cloning, and functional
expression of cDNA. J Biol Chem. 1994 Sep
23;269(38):23830-7
Nakamura J, Straub K, Wu J, Lou L. The glutamine hydrolysis
function of human GMP synthetase. Identification of an
essential active site cysteine. J Biol Chem. 1995 Oct
6;270(40):23450-5
Pegram LD, Megonigal MD, Lange BJ, Nowell PC, Rappaport
EF, Felix CA. t(3;11)(q25;q23) fuses MLL with the GMPS
(guanosine 5'-monophosphate synthetase) gene in treatmentrelated acute myeloid leukemia (AML). Blood. 1999 ; 94
(numero Suppl 1).
MLL
Location
In 11q23.
DNA/RNA
13-15 kb mRNA.
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1)
This article should be referenced as such:
Huret JL. t(3;11)(q25;q23). Atlas Genet Cytogenet Oncol
Haematol. 2000; 4(1):41.
41