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