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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...

Topics

Adenosine Triphosphatases
Chromatin
Chromosomal Proteins, Non-Histone
Epigenesis, Genetic
Gene Silencing
Humans
Polymorphism, Single Nucleotide
Protein Domains
Structure-Activity Relationship

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32779700
DOI: 10.1042/BST20200242
PMCID: PMC7458401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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

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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 ↗

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