Article

RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.

2024-01-03

Abstract excerpt

<title>Abstract</title> <p>Polycomb repressive complex 1 (PRC1) modifies chromatin through catalysis of histone 2A lysine 119 monoubiquitination (H2AK119ub1). RING1 and RNF2 interchangeably serve as the catalytic subunit within PRC1. Pathogenic missense variants in PRC1 core components reveal functions of these proteins that are obscured in knockout models. While <italic>Ring1a </italic>knockout models remain hea...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4fe2190f-abd3-5665-8977-b298d92ac8a9
DOI: 10.21203/rs.3.rs-3760059/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.DOI 10.21203/rs.3.rs-3760059/v1Read

De novo mutation in RING1 with epigenetic effects on neurodevelopment.Semantic proximity Read

H2AK119ub Safeguards Against Ectopic Transcription Factor Mediated Gene Activation in the Developing ForebrainSemantic proximity Read

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.Semantic proximity Read

Histone H2AK119 Mono-Ubiquitination is Essential for Polycomb-Mediated Transcriptional RepressionSemantic proximity Read

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural DifferentiationSemantic proximity Read

Divergent Pathogenic PR-DUB Complex Variants Converge Functionally Via PRC2 Displacement From ChromatinSemantic proximity Read

Structural basis of histone H2A lysine 119 deubiquitination by Polycomb Repressive Deubiquitinase BAP1/ASXL1Semantic proximity Read

BRD4 represses developmental and neuronal genes through interaction with PRC1.6Semantic proximity Read

JARID2 and AEBP2 regulate PRC2 activity in the presence of H2A ubiquitination or other histone modificationsSemantic proximity Read

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.Semantic proximity Read

ARID1B is a Dosage-sensitive Regulator of Polycomb Repressive Complex Distribution and HOX Gene Regulation in Patient-derived Neural ProgenitorsSemantic proximity Read

Phosphorylated ubiquitin is a secondary messenger and an epigenetic mark mediating mitochondria to nucleus signalingSemantic proximity Read