ArticleEuropean journal of human genetics : EJHG2010
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- Review
- The 3D Genome: From Structure to Function.International journal of molecular sciences · 2021Review
- Redox Homeostasis in Muscular Dystrophies.Cells · 2021Review
- SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy.Genome research · 2015Article
- Direct interplay between two candidate genes in FSHD muscular dystrophy.Human molecular genetics · 2015Article
- FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).PloS one · 2015Article
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Current 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
- Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.PLoS genetics · 2013Article
- Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.The American journal of pathology · 2012Article
- A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.European journal of human genetics : EJHG · 2012Article
- Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Human genetics · 2012Review
- Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.Journal of molecular biology · 2011Article
- DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo.Annals of neurology · 2011Article
- Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.Differentiation; research in biological diversity · 2011Article
- Article
- Article
- Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome.BMC genomics · 2010Article
- A unifying genetic model for facioscapulohumeral muscular dystrophy.Science (New York, N.Y.) · 2010Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
Abstract
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, non-coding RNA, nuclear localization and trans-effects. To directly test whether deletions of D4Z4 affect gene expression in cis, nascent RNA was examined in single myonuclei so that transcription from each allele could be measured independently. FSHD and control myotubes (differentiated myoblasts) were subjected to sequential RNA-DNA FISH. A total of 16 genes in the FSHD region (FRG2, TUBB4Q, FRG1, FAT1, F11, KLKB1, CYP4V2, TLR3, SORBS2, PDLIM3 (ALP), LRP2BP, ING2, SNX25, SLC25A4 (ANT1), HELT and IRF2) were examined for interallelic variation in RNA expression within individual myonuclei. Sequential DNA hybridization with a unique 4q35 chromosome probe was then applied to confirm the localization of nascent RNA to 4q. A D4Z4 probe, labeled with a third fluorochrome, distinguished between the deleted and normal allele in FSHD nuclei. Our data do not support an FSHD model in which contracted D4Z4 arrays induce altered transcription in cis from 4q35 genes, even for those genes (FRG1, FRG2 and SLC25A4 (ANT1)) for which such an effect has been proposed.
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