Article
Mutational mechanisms of EZH2 inactivation in myeloid neoplasms.
Leukemia - 1 Dec 2020
Chase Andrew, Score Joannah, Lin Feng, Bryant Catherine, Waghorn Katherine, Yapp Sarah, Carreno-Tarragona Gonzalo, Aranaz Paula, Villasante Aranzazu, Ernst Thomas, Cross Nicholas C P
Abstract excerpt
EZH2, a component of the polycomb repressive complex 2, catalyses the trimethylation of histone H3 lysine 27, a chromatin mark associated with transcriptional repression. EZH2 loss-of-function mutations are seen in myeloid neoplasms and are associated with an adverse prognosis. Missense mutations in the SET/CXC domain abrogate catalytic activity as assessed by in vitro histone methylation assays, but missense...
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