ArticleBMC medical genetics2007
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 28 citations in OpenAlex.
- DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.Skeletal muscle · 2025Review
- Cellular and animal models for facioscapulohumeral muscular dystrophy.Disease models & mechanisms · 2020Review
- Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.Neuromuscular disorders : NMD · 2017Article
- CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Article
- Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.Antioxidants & redox signaling · 2015Review
- Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Clinical epigenetics · 2015Article
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Current molecular medicine · 2014Article
- Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.Human molecular genetics · 2013Article
- Evolution of DUX gene macrosatellites in placental mammals.Chromosoma · 2012Article
- The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.The Journal of cell biology · 2010Review
- FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.Journal of medical genetics · 2010Article
- Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.American journal of human genetics · 2010Article
- Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.Nucleic acids research · 2008Article
- Alternative splicing and muscular dystrophy.RNA biologyReview
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Authors and funding
7 authors at 4 institutions in 2 countries.
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Abstract
backgroundThe homologous 4q and 10q subtelomeric regions include two distinctive polymorphic arrays of 3.3 kb repeats, named D4Z4. An additional BlnI restriction site on the 10q-type sequence allows to distinguish the chromosomal origin of the repeats. Reduction in the number of D4Z4 repeats below a threshold of 10 at the 4q locus is tightly linked to Facioscapulohumeral Muscular Dystrophy (FSHD), while similar contractions at 10q locus, are not pathogenic. Sequence variations due to the presence of BlnI-sensitive repeats (10q-type) on chromosome 4 or viceversa of BlnI-resistant repeats (4q-type) on chromosome 10 are observed in both alleles.
resultsWe analysed DNA samples from 116 healthy subiects and 114 FSHD patients and determined the size distributions of polymorphic 4q and 10q alleles, the frequency and the D4Z4 repeat assortment of variant alleles, and finally the telomeric sequences both in standard and variant alleles. We observed the same frequency and types of variant alleles in FSHD patients and controls, but we found marked differences between the repeat arrays of the 4q and 10q chromosomes. In particular we detected 10q alleles completely replaced by the 4q subtelomeric region, consisting in the whole set of 4q-type repeats and the distal telomeric markers. However the reciprocal event, 10q-type subtelomeric region on chromosome 4, was never observed. At 4q locus we always identified hybrid alleles containing a mixture of 4q and 10q-type repeats.
conclusionsThe different size distribution and different structure of 10q variant alleles as compared with 4q suggests that these loci evolved in a different manner, since the 4q locus is linked to FSHD, while no inheritable disease is associated with mutations in 10qter genomic region. Hybrid alleles on chromosome 4 always retain a minimum number of 4q type repeats, as they are probably essential for maintaining the structural and functional properties of this subtelomeric region. In addition we found: i) several instances of variant alleles that could be misinterpreted and interfere with a correct diagnosis of FSHD; ii) the presence of borderline alleles in the range of 30-40 kb that carried a qA type telomere and were not associated with the disease.
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