ArticleAmerican journal of human genetics1998
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 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
- Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.Orphanet journal of rare diseases · 2021Review
- Review
- Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells.PloS one · 2016Article
- Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.Human mutation · 2014Article
- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
- Article
- Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.Sleep & breathing = Schlaf & Atmung · 2011Article
- The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.The Journal of cell biology · 2010Review
- Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2010Article
- Hypermethylation of genomic 3.3-kb repeats is frequent event in HPV-positive cervical cancer.BMC medical genomics · 2009Article
- Subtelomeric DNA hypomethylation is not required for telomeric sister chromatid exchanges in ALT cells.Oncogene · 2009Article
- Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.Nucleic acids research · 2008Article
- The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.BMC medical genetics · 2007Article
- Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy.The American journal of pathology · 2001Article
- De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.American journal of human genetics · 2000Article
- A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).Journal of medical genetics · 1999Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Physical mapping and in situ hybridization experiments have shown that a duplicated locus with a structural organization similar to that of the 4q35 locus implicated in facioscapulohumeral muscular dystrophy is present in the subtelomeric portion of 10q. We performed sequence analysis of the p13E-11 probe and of the adjacent KpnI tandem-repeat unit derived from a 10qter cosmid clone and compared our results with those published, by other laboratories, for the 4q35 region. We found that the sequence homology range is 98%-100% and confirmed that the only difference that can be exploited for differentiation of the 10qter from the 4q35 alleles is the presence of an additional BlnI site within the 10qter KpnI repeat unit. In addition, we observed that the high degree of sequence homology does facilitate interchromosomal exchanges resulting in displacement of the whole set of BlnI-resistant or BlnI-sensitive KpnI repeats from one chromosome to the other. However, partial translocations escape detection if the latter simply relies on the hybridization pattern from double digestion with EcoRI/BlnI and with p13E-11 as a probe. We discovered that the restriction enzyme Tru9I cuts at both ends of the array of KpnI repeats of different chromosomal origins and allows the use of cloned KpnI sequences as a probe by eliminating other spurious fragments. This approach coupled with BlnI digestion permitted us to investigate the structural organization of BlnI-resistant and BlnI-sensitive units within translocated chromosomes of 4q35 and 10q26 origin. A priori, the possibility that partial translocations could play a role in the molecular mechanism of the disease cannot be excluded.
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