Author

A. McElligott

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Open access Jul 2026

Divergent Pathogenic PR-DUB Complex Variants Converge Functionally Via PRC2 Displacement From Chromatin

It is discovered that ASXL1 BOS variants drive reductions – but not global ablations – in H2AK119ub1, consistent with gain-of-function, and is emerging as a common phenotype across genetically and mechanistically distinct Polycomb-related chromatinopathies.

E. Doyle, Maeve Boyce, Sarah Buggle et al. · bioRxiv · 0 citations