Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

Gorica Nikoloski, Saskia M C Langemeijer, Roland P Kuiper, Ruth Knops, Marion Massop, Evelyn R L T M Tönnissen, Adrian van der Heijden, Theresia N Scheele, Peter Vandenberghe, Theo de Witte, Bert A van der Reijden, Joop H Jansen

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)665-7
Aantal pagina's3
TijdschriftNature Genetics
Volume42
Nummer van het tijdschrift8
DOI's
StatusGepubliceerd - aug. 2010
Extern gepubliceerdJa

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