Regular ArticleThe FSHD Region on Human Chromosome 4q35 Contains Potential Coding Regions among Pseudogenes and a High Density of Repeat Elements☆
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Cited by (34)
Defective regulation of MicroRNA target genes in myoblasts from facioscapulohumeral dystrophy patients
2013, Journal of Biological ChemistryCitation Excerpt :The length of this array varies from 35 to 300 kb in healthy subjects but is consistently smaller than 35 kb in FSHD patients (3). Each D4Z4 repeat contains a functional promoter, an open reading frame for DUX4 (double homeobox protein 4) (4, 5), and a number of regulatory elements (reviewed in Ref. 6). In healthy subjects, DUX4 is expressed during embryogenesis and down-regulated in the course of development (7, 8).
The Subtelomeric D4Z4 Repeat Instability in Facioscapulohumeral Muscular Dystrophy
2006, Genetic Instabilities and Neurological DiseasesHuman genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats
2002, GeneCitation Excerpt :Interestingly, at 4q35 the deletion of an integral number of D4Z4 units was associated with sporadic and familial cases of the facioscapulohumeral muscular dystrophy (FSHD) syndrome (van Deutekom et al., 1993; Wijmenga et al., 1992). In the attempt to identify the gene responsible of the FSHD, 160 kb of the 4q subtelomeric region have been sequenced (van Geel et al., 1999). This region contains FRG1 and TUB4q genes, potential coding regions, pseudogenes, high density of interspersed repeats, a polymorphic array of D4Z4 repeats and a beta satellite block.
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Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. U85056, U89471, and AF146191.
- 1
Present address: Division of Genetics, Queen's Medical Centre, Nottingham University, Nottingham, UK.
- 2
To whom correspondence should be addressed at Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263. Telephone: (716) 845-3168. Fax: (716) 845-1698. E-mail: [email protected].