Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.
In myelodysplastic syndromes (MDS), deletions of chromosome 7 or 7q are common and correlate with a poor prognosis. The relevant genes on chromosome 7 are unknown. We report here that EZH2, located at 7q36.1, is frequently targeted in MDS. Analysis of EZH2 deletions, missense and frameshift mutations strongly suggests that EZH2 is a tumor suppressor. As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS.
Nikoloski
Gorica
G
Department of Laboratory Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands.
Langemeijer
Saskia M C
SM
Kuiper
Roland P
RP
Knops
Ruth
R
Massop
Marion
M
Tönnissen
Evelyn R L T M
ER
van der Heijden
Adrian
A
Scheele
Theresia N
TN
Vandenberghe
Peter
P
de Witte
Theo
T
van der Reijden
Bert A
BA
Jansen
Joop H
JH
D004268:DNA-Binding Proteins; D000071221:Enhancer of Zeste Homolog 2 Protein; D016147:Genes, Tumor Suppressor; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D063151:Polycomb Repressive Complex 2; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D014157:Transcription Factors; D000076983:Histone Methyltransferases; C498409:EZH2 protein, human; D000071221:Enhancer of Zeste Homolog 2 Protein; D011495:Histone-Lysine N-Methyltransferase; D063151:Polycomb Repressive Complex 2