Article

Dominant negative effects on H3K27 methylation by Weaver syndrome-associated EZH2 variants

2023-06-01

Abstract excerpt

Heterozygous missense mutations in EZH2 cause Weaver syndrome (WS), a developmental disorder characterized by intellectual disability and overgrowth. EZH2 encodes the enzymatic subunit of Polycomb Repressive Complex 2 (PRC2), which mediates mono-, di-, and tri-methylation of histone H3 lysine residue 27 (H3K27me1/2/3). Although the functional characterization of most WS-associated EZH2 variants is lacking, they...

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Literature Corpus work: b51af3dc-af3f-56f1-8451-1b690b1397f5
DOI: 10.1101/2023.06.01.543208

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