PMID- 20601954 OWN - NLM STAT- MEDLINE DCOM- 20100813 LR - 20220408 IS - 1546-1718 (Electronic) IS - 1061-4036 (Linking) VI - 42 IP - 8 DP - 2010 Aug TI - Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. PG - 665-7 LID - 10.1038/ng.620 [doi] AB - 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. FAU - Nikoloski, Gorica AU - Nikoloski G AD - Department of Laboratory Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands. FAU - Langemeijer, Saskia M C AU - Langemeijer SM FAU - Kuiper, Roland P AU - Kuiper RP FAU - Knops, Ruth AU - Knops R FAU - Massop, Marion AU - Massop M FAU - Tonnissen, Evelyn R L T M AU - Tonnissen ER FAU - van der Heijden, Adrian AU - van der Heijden A FAU - Scheele, Theresia N AU - Scheele TN FAU - Vandenberghe, Peter AU - Vandenberghe P FAU - de Witte, Theo AU - de Witte T FAU - van der Reijden, Bert A AU - van der Reijden BA FAU - Jansen, Joop H AU - Jansen JH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20100704 PL - United States TA - Nat Genet JT - Nature genetics JID - 9216904 RN - 0 (DNA-Binding Proteins) RN - 0 (Transcription Factors) RN - EC 2.1.1.- (Histone Methyltransferases) RN - EC 2.1.1.43 (EZH2 protein, human) RN - EC 2.1.1.43 (Enhancer of Zeste Homolog 2 Protein) RN - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase) RN - EC 2.1.1.43 (Polycomb Repressive Complex 2) SB - IM MH - DNA-Binding Proteins MH - Enhancer of Zeste Homolog 2 Protein MH - Genes, Tumor Suppressor MH - Histone Methyltransferases MH - Histone-Lysine N-Methyltransferase MH - Humans MH - *Mutation MH - Myelodysplastic Syndromes/*genetics MH - Polycomb Repressive Complex 2 MH - Transcription Factors EDAT- 2010/07/06 06:00 MHDA- 2010/08/14 06:00 CRDT- 2010/07/06 06:00 PHST- 2010/01/15 00:00 [received] PHST- 2010/05/18 00:00 [accepted] PHST- 2010/07/06 06:00 [entrez] PHST- 2010/07/06 06:00 [pubmed] PHST- 2010/08/14 06:00 [medline] AID - ng.620 [pii] AID - 10.1038/ng.620 [doi] PST - ppublish SO - Nat Genet. 2010 Aug;42(8):665-7. doi: 10.1038/ng.620. Epub 2010 Jul 4.