Article
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.
Nature genetics - 1 Aug 2010
Nikoloski Gorica, Langemeijer Saskia M C, Kuiper Roland P, Knops Ruth, Massop Marion, Tönnissen Evelyn R L T M, van der Heijden Adrian, Scheele Theresia N, Vandenberghe Peter, de Witte Theo, van der Reijden Bert A, Jansen Joop H
Abstract excerpt
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...
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