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Article

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

European journal of human genetics : EJHG - 1 Apr 2010

Masny Peter S, Chan On Ying A, de Greef Jessica C, Bengtsson Ulla, Ehrlich Melanie, Tawil Rabi, Lock Leslie F, Hewitt Jane E, Stocksdale Jennifer, Martin Jorge H, van der Maarel Silvere M, Winokur Sara T

Abstract excerpt

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is likely caused by epigenetic alterations in chromatin involving contraction of the D4Z4 repeat array near the telomere of chromosome 4q. The precise mechanism by which deletions of D4Z4 influence gene expression in FSHD is not yet resolved. Regulatory models include a cis effect on proximal gene transcription (position effect), DNA looping,...

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Topics

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Share to Chromatin
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Fluorescence

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Myoblasts

Share to Tandem Repeat Sequences

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Source

Open in PubMed Open full text

Identifiers

PMID: 19888305
DOI: 10.1038/ejhg.2009.183
PMCID: PMC2843500

Genes

FRG1
FRG2
FAT1
HELT
ING2
KLKB1
PDLIM3
SNX25
SORBS2
TLR3

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.PMID 19888305Read ↗

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.Semantic proximity Read ↗

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophySemantic proximity Read ↗

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.Semantic proximity Read ↗

Gene expression during normal and FSHD myogenesisSemantic proximity Read ↗

The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral DystrophySemantic proximity Read ↗

4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in FSHDSemantic proximity Read ↗

Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat lengthSemantic proximity Read ↗

Relationship of <i>DUX4</i> and target gene expression in FSHD myocytesSemantic proximity Read ↗

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.Semantic proximity Read ↗

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.Semantic proximity Read ↗

Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat lengthSemantic proximity Read ↗

Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeatsSemantic proximity Read ↗

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