Article

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

2026-07-26

Abstract excerpt

<h4>Summary</h4> The PR-DUB complex is responsible for erasing the repressive histone modification, H2AK119ub1. ASXL1-3 proteins are mutually exclusive catalytic partners of BAP1 in the PR-DUB complex. Somatic heterozygous ASXL1-3 variants are associated with cancer, including myeloid malignancies, while de novo germline variants cause neurodevelopmental disorders such as Bohring-Opitz syndrome. These pathogeni...

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Literature Corpus work: cc32d447-c778-512d-abee-49c1d99dc773
DOI: 10.64898/2026.07.23.740410

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