Article

DNA binding by ATPase-adjacent domains stimulates SMCHD1 ATPase activity

2026-02-05

Abstract excerpt

<h4>ABSTRACT</h4> SMCHD1 is an epigenetic regulator in which heterozygous variants are reported in facioscapulohumeral muscular dystrophy (FSHD), as well as Bosma arhinia microphthalmia syndrome (BAMS). While we have previously shown that SMCHD1 is able to interact with nucleic acids via its hinge domain, we have now identified a second DNA-binding site that is located C-terminal to the ATPase domain and formed b...

Topics

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

Identifiers and source

Literature Corpus work: 92d5a0f9-3f2d-5e4d-bfb2-f7d14ca14503
DOI: 10.64898/2026.02.05.704097

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DNA binding by ATPase-adjacent domains stimulates SMCHD1 ATPase activityDOI 10.64898/2026.02.05.704097Read

SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.Semantic proximity Read

Relating SMCHD1 structure to its function in epigenetic silencing.Semantic proximity Read

Selective interaction of SMCHD1 with chromatin is governed by LRIF1 and SMCHD1 ATPase activity.Semantic proximity Read

Selective interaction of the protein SMCHD1 with specific chromatin regions is governed by the loading factor LRIF1 and SMCHD1 ATPase activitySemantic proximity Read

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndromeSemantic proximity Read

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.Semantic proximity Read

SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2Semantic proximity Read

SMCHD1 loss re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cellsSemantic proximity Read

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesisSemantic proximity Read

The Epigenetic Regulator SMCHD1 in Development and Disease.Semantic proximity Read

SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatelliteSemantic proximity Read

Many faces of SMCHD1.Semantic proximity Read