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Article

Relating SMCHD1 structure to its function in epigenetic silencing.

Biochemical Society transactions - 28 Aug 2020

Gurzau Alexandra D, Blewitt Marnie E, Czabotar Peter E, Murphy James M, Birkinshaw Richard W

Abstract excerpt

The structural maintenance of chromosomes hinge domain containing protein 1 (SMCHD1) is a large multidomain protein involved in epigenetic gene silencing. Variations in the SMCHD1 gene are associated with two debilitating human disorders, facioscapulohumeral muscular dystrophy (FSHD) and Bosma arhinia microphthalmia syndrome (BAMS). Failure of SMCHD1 to silence the D4Z4 macro-repeat array causes FSHD, yet the...

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Share to Adenosine Triphosphatases
Share to Chromatin
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Gene Silencing

Share to Polymorphism, Single Nucleotide

Share to Protein Domains

Share to Structure-Activity Relationship

Source

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Identifiers

PMID: 32779700
DOI: 10.1042/BST20200242
PMCID: PMC7458401

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Relating SMCHD1 structure to its function in epigenetic silencing.PMID 32779700Read ↗

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

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

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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in diseaseSemantic proximity Read ↗

SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2Semantic 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 ↗

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A New Role for SMCHD1 in Life's Master Switch and Beyond.Semantic proximity Read ↗

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

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