ArticleGenome research2008
A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 67 citations in OpenAlex.
- Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology.Disease models & mechanisms · 2026Article
- 3D genome alterations and editing in pathology.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Does DNA Methylation Matter in FSHD?Genes · 2020Review
- 3D genomics imposes evolution of the domain model of eukaryotic genome organization.Chromosoma · 2017Review
- The Genome Conformation As an Integrator of Multi-Omic Data: The Example of Damage Spreading in Cancer.Frontiers in genetics · 2016Article
- ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy.Nucleic acids research · 2015Article
- Eukaryotic enhancers: common features, regulation, and participation in diseases.Cellular and molecular life sciences : CMLS · 2015Review
- Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.Antioxidants & redox signaling · 2015Review
- DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.European journal of human genetics : EJHG · 2014Article
- Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Molecular and cellular biology · 2014Article
- Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes.Journal of cellular and molecular medicine · 2014Article
- DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.Skeletal muscle · 2014Article
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.Skeletal muscle · 2014Review
- Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.The Journal of biological chemistry · 2013Article
- Kinetics and epigenetics of retroviral silencing in mouse embryonic stem cells defined by deletion of the D4Z4 element.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- Simultaneous miRNA and mRNA transcriptome profiling of human myoblasts reveals a novel set of myogenic differentiation-associated miRNAs and their target genes.BMC genomics · 2013Article
- DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?Journal of cellular and molecular medicine · 2013Article
- Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.Current opinion in neurology · 2012Review
- Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Human genetics · 2012Review
- Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.PloS one · 2012Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Facio-scapulo-humeral dystrophy (FSHD), a muscular hereditary disease with a prevalence of 1 in 20,000, is caused by a partial deletion of a subtelomeric repeat array on chromosome 4q. Earlier, we demonstrated the existence in the vicinity of the D4Z4 repeat of a nuclear matrix attachment site, FR-MAR, efficient in normal human myoblasts and nonmuscular human cells but much weaker in muscle cells from FSHD patients. We now report that the D4Z4 repeat contains an exceptionally strong transcriptional enhancer at its 5'-end. This enhancer up-regulates transcription from the promoter of the neighboring FRG1 gene. However, an enhancer blocking activity was found present in FR-MAR that in vitro could protect transcription from the enhancer activity of the D4Z4 array. In vivo, transcription from the FRG1 and FRG2 genes could be down- or up-regulated depending on whether or not FR-MAR is associated with the nuclear matrix. We propose a model for an etiological role of the delocalization of FR-MAR in the genesis of FSHD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.