ArticleAmerican journal of human genetics2004
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 58 citations in OpenAlex.
- Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.Genome research · 2026Article
- Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.Journal of human genetics · 2025Review
- Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.European journal of human genetics : EJHG · 2025Article
- Review
- Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.Brain : a journal of neurology · 2024Article
- Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.Neurology. Genetics · 2023Article
- Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.Clinical genetics · 2022Review
- Chromosome 10q-linked FSHD identifiesJournal of medical genetics · 2022Article
- Subtelomeric Transcription and its Regulation.Journal of molecular biology · 2020Review
- Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Clinical genetics · 2020Review
- SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.Journal of medical genetics · 2019Article
- Genotype-phenotype correlations in FSHD.BMC medical genomics · 2019Review
- A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.Neurology · 2018Observational
- Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage.Histochemistry and cell biology · 2016Article
- Genetic and epigenetic contributors to FSHD.Current opinion in genetics & development · 2015Review
- Article
- 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
- Evolution of DUX gene macrosatellites in placental mammals.Chromosoma · 2012Article
- Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Human genetics · 2012Review
- [Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].Der Nervenarzt · 2011Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1A) is associated with contractions of the polymorphic D4Z4 repeat on chromosome 4qter. Almost half of new FSHD mutations occur postfertilization, resulting in somatic mosaicism for D4Z4. Detailed D4Z4 analysis of 11 mosaic individuals with FSHD revealed a mosaic mixture of a contracted FSHD-sized allele and the unchanged ancestral allele in 8 cases, which is suggestive of a mitotic gene conversion without crossover. However, in 3 cases, the D4Z4 rearrangement resulted in two different-sized D4Z4 repeats, indicative of a gene conversion with crossover. In all cases, DNA markers proximal and distal to D4Z4 showed no allelic exchanges, suggesting that all rearrangements were intrachromosomal. We propose that D4Z4 rearrangements occur via a synthesis-dependent strand annealing model that relatively frequently allows for crossovers. Furthermore, the distribution of different cell populations in mosaic patients with FSHD suggests that mosaicism here results from D4Z4 rearrangements occurring during the first few zygotic cell divisions after fertilization.
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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.