Literature DB >> 7739628

Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.

J H Lee1, K Goto, C Matsuda, K Arahata.   

Abstract

A 3.3-kb KpnI repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5-kb HincII/KpnI fragment of the facioscapulohumeral muscular dystrophy (FSHD) gene region at 4q35-qter were sequenced and characterized. The 3.3-kb KpnI unit was 3303 bp in length and contained two homeodomain sequences, one LSau-like sequence, and several microsatellites. The GC content in the 3.3-kb unit was very high (73%), while it was only 35% in the nonrepeated region of the 2.5-kb fragment. We identified 99% homologous sequences (918 bp) in the 3' end of the 3.3- and 2.5-kb fragments. These findings suggested that the repeated sequences at the D4Z4 start from 918 bp upstream to the first KpnI site.

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Year:  1995        PMID： 7739628

Source DB:  PubMed          Journal:  Muscle Nerve Suppl


  9 in total

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

Authors:  S M van der Maarel; G Deidda; R J Lemmers; P G van Overveld; M van der Wielen; J E Hewitt; L Sandkuijl; B Bakker; G J van Ommen; G W Padberg; R R Frants
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

Authors:  T Rijkers; G Deidda; S van Koningsbruggen; M van Geel; R J L F Lemmers; J C T van Deutekom; D Figlewicz; J E Hewitt; G W Padberg; R R Frants; S M van der Maarel
Journal:  J Med Genet       Date:  2004-11       Impact factor: 6.318

Review 3.  The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Authors:  Silvère M van der Maarel; Rune R Frants
Journal:  Am J Hum Genet       Date:  2005-01-24       Impact factor: 11.025

4.  RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA.

Authors:  Vassilios Alexiadis; Mary E Ballestas; Cecilia Sanchez; Sara Winokur; Vettaikorumakankav Vedanarayanan; Mary Warren; Melanie Ehrlich
Journal:  Biochim Biophys Acta       Date:  2006-11-22

5.  Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.

Authors:  R Tupler; G Perini; M A Pellegrino; M R Green
Journal:  Proc Natl Acad Sci U S A       Date:  1999-10-26       Impact factor: 11.205

6.  Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects.

Authors:  Marietta Barro; Gilles Carnac; Sébastien Flavier; Jacques Mercier; Yegor Vassetzky; Dalila Laoudj-Chenivesse
Journal:  J Cell Mol Med       Date:  2008-05-24       Impact factor: 5.310

7.  Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.

Authors:  S Cacurri; N Piazzo; G Deidda; E Vigneti; G Galluzzi; L Colantoni; B Merico; E Ricci; L Felicetti
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

8.  Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).

Authors:  Yi Dai; Pidong Li; Zhiqiang Wang; Fan Liang; Fan Yang; Li Fang; Yu Huang; Shangzhi Huang; Jiapeng Zhou; Depeng Wang; Liying Cui; Kai Wang
Journal:  J Med Genet       Date:  2019-09-10       Impact factor: 6.318

Review 9.  DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.

Authors:  Eva Sidlauskaite; Laura Le Gall; Virginie Mariot; Julie Dumonceaux
Journal:  J Pers Med       Date:  2020-07-28
  9 in total

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