Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes
G Nikoloski, SMC Langemeijer, RP Kuiper, R Knops… - Nature …, 2010 - nature.com
G Nikoloski, SMC Langemeijer, RP Kuiper, R Knops, M Massop, ER Tönnissen…
Nature genetics, 2010•nature.comIn 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.
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.
Abstract
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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