Divergent Pathogenic PR-DUB Complex Variants Converge Functionally Via PRC2 Displacement From Chromatin
Emma J. Doyle, Maeve Boyce, Sarah Buggle, Taylor Smith, Eugène Dillon, Anthony M. McElligott, Nina M. Orfali, Aisling Y. Coughlan, Diego Pasini, Eric Conway
The paper shows that pathogenic PR-DUB complex variants reduce H2AK119ub1 levels by stabilizing truncated ASXL1, leading to PRC2 displacement and H3K27me3 reduction, a phenotype shared across different chromatinopathies.
bioRxiv · Jul 26, 2026 · PreprintGenetics