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Article

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy

1 Jan 1994

Abstract excerpt

The sequence of the tandem repeat sequence (D4Z4) associated with facioscapulohumeral muscular dystrophy (FSHD) has been determined: each copy of the 3.3 kb repeat contains two homeoboxes and two previously described repetitive sequences, LSau and a GC-rich low copy repeat designated hhspm3. By Southern blotting, FISH and isolation of cDNA and genomic clones we show that there are repeat sequences similar to D4Z4...

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PMID: 7987304
DOI: 10.1093/hmg/3.8.1287

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Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhyPMID 7987304Read ↗

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

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

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeatsSemantic proximity Read ↗

Rethinking genomics of Facioscapulohumeral Muscular Dystrophy in the Telomere-to-Telomere era: pitfalls in the hidden landscape of D4Z4 repeatsSemantic proximity Read ↗

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

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

A unifying genetic model for facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.Semantic proximity Read ↗

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.Semantic proximity Read ↗

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.Semantic proximity Read ↗

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