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Article

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

Human molecular genetics - 15 Feb 2018

de Greef Jessica C, Krom Yvonne D, den Hamer Bianca, Snider Lauren, Hiramuki Yosuke, van den Akker Rob F P, Breslin Kelsey, Pakusch Miha, Salvatori Daniela C F, Slütter Bram, Tawil Rabi, Blewitt Marnie E, Tapscott Stephen J, van der Maarel Silvère M

Abstract excerpt

In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8-100 units. The D4Z4 repeat has heterochromatic features and does not express DUX4 in somatic cells. Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression resulting in the presence of DUX4 protein in sporadic muscle nuclei. Somatic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29281018
DOI: 10.1093/hmg/ddx437
PMCID: PMC5886298

Genes

DUX4
SMCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.PMID 29281018Read ↗

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.Semantic proximity Read ↗

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.Semantic proximity Read ↗

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHDSemantic proximity Read ↗

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

Genetic and epigenetic contributors to FSHD.Semantic proximity Read ↗

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.Semantic proximity Read ↗

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.Semantic proximity Read ↗

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

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.Semantic proximity Read ↗

SUMOylation differentially regulates SMCHD1 complex formation and function in a genomic context-specific mannerSemantic proximity Read ↗

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