Article

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation

2025-08-11

Abstract excerpt

<title>Abstract</title> Polycomb Repressive Complex 1 (PRC1) catalyzes H2AK119ub1 to facilitate transcriptional repression during development. De novo dominant missense variants in RNF2, the principal E3 ligase of PRC1, are the genetic basis of Luo-Schoch-Yamamoto syndrome. To investigate the developmental impact of catalytically impaired RNF2 alleles, we engineered hESC lines harboring homozygous hypomorphic...

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Literature Corpus work: 3693eccf-56c9-59ba-88ba-9a9a1a224b5a
DOI: 10.21203/rs.3.rs-7143352/v1

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