Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation.
By Damian Boon Siew Yap, Justin Chu, T. Berg, M. Schapira, S. G. Cheng, A. Moradian, Ryan D. Morin, A. Mungall, B. Meissner, M. Boyle and 7 more. Blood, 2011
623 citations recorded by the source corpus.
Subfields: Molecular Biology
View Paper: https://www.semanticscholar.org/paper/1e9eae745139402a9e77b45db73be5b4172685c2
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In Molecular Biology
- Olivier Elemento
- J. Audia
- Bradley E. Bernstein
- R. Campbell
- William A. Flavahan
- Elizabeth Gaskell
- V. Schirrmacher
Citations in the corpus
- Epigenetic plasticity and the hallmarks of cancer (2017, background): “The gain-of-function mutations create a hyperactive methyltransferase enzyme (32, 33).”
- Oncogenic histone methyltransferase EZH2: A novel prognostic marker with therapeutic potential in endometrial cancer (2017, neutral): “Although the Y641 mutant was initially reported to be a loss-of-function mutation [25], subsequent biochemical analyses indicated that this mutant actually caused increased activity of EZH2 [23, 26].”
- Histone Modifications and Cancer. (2016, background): “For instance, EZH2-activating mutations are observed in subsets of lymphoma, providing a biomarker for this type of lymphoma (Yap et al. 2011; Majer et al. 2012; McCabe et al. 2012), whereas MLL-fusion proteins in rearranged leukemias have altered DOT1L-dependent H3K79 methylation profiles, which…”
- EZH2 is required for germinal center formation and somatic EZH2 mutations promote lymphoid transformation (2013, background): “These mutations alter the enzymatic activity of EZH2, resulting in a protein that fails to recognize unmodified H3K27 and preferentially converts mono- or dimethylated H3K27 to the trimethylated state (Sneeringer et al., 2010; Yap et al., 2011).”