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Article

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

Nature communications - 16 Jun 2026

Constantinescu Flavia, Szczurek Aleksander T, Nesterova Tatyana B, Wei Guifeng, Almeida Mafalda, Kelley Jessica R, Pustygina Victoria, Uphoff Stephan, Cawte Adam D, Brockdorff Neil

Abstract excerpt

The chromosomal protein SMCHD1 is a GHKL ATPase with important roles in epigenetic silencing, including on the inactive X chromosome (Xi). Mutations of SMCHD1 have been linked to facioscapulohumeral muscular dystrophy (FSHD) and Bosma arrhinia microphthalmia syndrome (BAMS). Here, we use live-cell and single-molecule imaging to investigate SMCHD1 interactions with chromatin and its function in epigenetic...

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Share to Adenosine Triphosphatases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomal Proteins, Non-Histone

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Source

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Identifiers

PMID: 42303997
DOI: 10.1038/s41467-026-74427-9
PMCID: PMC13434421

Genes

SMCHD1
LRIF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Selective interaction of SMCHD1 with chromatin is governed by LRIF1 and SMCHD1 ATPase activity.PMID 42303997Read ↗

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

DNA binding by ATPase-adjacent domains stimulates SMCHD1 ATPase activitySemantic proximity Read ↗

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

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

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

SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2Semantic 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 re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cellsSemantic proximity Read ↗

SMCHD1 activates the expression of genes required for the expansion of human myoblastsSemantic proximity Read ↗

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

Many faces of SMCHD1.Semantic proximity Read ↗

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

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