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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.

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Figure 1: EZH2 is recurrently affected in individuals with MDS.


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We thank R. Woestenenk and E. Kamping for technical assistance. This work was supported by grants from the Dutch Organization for Scientific Research (NWO, 92003420) and the Stichting Vanderes (07-183). P.V. is a clinical investigator of Fonds Wetenschappelijk Onderzoek Vlaanderen.

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G.N., S.M.C.L., R.P.K., T.d.W., B.A.v.d.R. and J.H.J. designed the experiments. G.N., S.M.C.L., R.K., M.M., E.R.L.T.M.T., A.v.d.H., T.N.S., P.V. and T.d.W. provided subject material and clinical data. S.M.C.L. and R.P.K. performed and analyzed the SNP arrays. G.N., E.R.L.T.M.T., M.M., A.v.d.H. and T.N.S. performed sequence analysis and allelic discrimination assays. G.N. and J.H.J. wrote the paper.

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Correspondence to Joop H Jansen.

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The authors declare no competing financial interests.

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Nikoloski, G., Langemeijer, S., Kuiper, R. et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 42, 665–667 (2010).

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