Literature DB >> 14634647

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.

Petra G M van Overveld1, Richard J F L Lemmers, Lodewijk A Sandkuijl, Leo Enthoven, Sara T Winokur, Floor Bakels, George W Padberg, Gert-Jan B van Ommen, Rune R Frants, Silvère M van der Maarel.   

Abstract

The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.

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Mesh：

Year:  2003        PMID： 14634647     DOI： 10.1038/ng1262

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  196 in total

1.  Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.

Authors:  Andrei Petrov; Iryna Pirozhkova; Gilles Carnac; Dalila Laoudj; Marc Lipinski; Yegor S Vassetzky
Journal:  Proc Natl Acad Sci U S A       Date:  2006-04-21       Impact factor: 11.205

2.  Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy.

Authors:  Fan Yang; Chunbo Shao; Vettaikorumakankav Vedanarayanan; Melanie Ehrlich
Journal:  Chromosoma       Date:  2004-05-11       Impact factor: 4.316

3.  Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

Authors:  Richard J F L Lemmers; Mariëlle Wohlgemuth; Rune R Frants; George W Padberg; Eva Morava; Silvere M van der Maarel
Journal:  Am J Hum Genet       Date:  2004-10-04       Impact factor: 11.025

4.  Clinical features of facioscapulohumeral muscular dystrophy 2.

Authors:  J C de Greef; R J L F Lemmers; P Camaño; J W Day; S Sacconi; M Dunand; B G M van Engelen; S Kiuru-Enari; G W Padberg; A L Rosa; C Desnuelle; S Spuler; M Tarnopolsky; S L Venance; R R Frants; S M van der Maarel; R Tawil
Journal:  Neurology       Date:  2010-10-26       Impact factor: 9.910

5.  A unifying genetic model for facioscapulohumeral muscular dystrophy.

Authors:  Richard J L F Lemmers; Patrick J van der Vliet; Rinse Klooster; Sabrina Sacconi; Pilar Camaño; Johannes G Dauwerse; Lauren Snider; Kirsten R Straasheijm; Gert Jan van Ommen; George W Padberg; Daniel G Miller; Stephen J Tapscott; Rabi Tawil; Rune R Frants; Silvère M van der Maarel
Journal:  Science       Date:  2010-08-19       Impact factor: 47.728

Review 6.  Constitutional epimutation as a mechanism for cancer causality and heritability?

Authors:  Megan P Hitchins
Journal:  Nat Rev Cancer       Date:  2015-09-18       Impact factor: 60.716

7.  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 8.  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

Review 9.  The new field of epigenomics: implications for cancer and other common disease research.

Authors:  H T Bjornsson; H Cui; D Gius; M D Fallin; A P Feinberg
Journal:  Cold Spring Harb Symp Quant Biol       Date:  2004

10.  DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Authors:  Manjusha Dixit; Eugénie Ansseau; Alexandra Tassin; Sara Winokur; Rongye Shi; Hong Qian; Sébastien Sauvage; Christel Mattéotti; Anne M van Acker; Oberdan Leo; Denise Figlewicz; Marietta Barro; Dalila Laoudj-Chenivesse; Alexandra Belayew; Frédérique Coppée; Yi-Wen Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-05       Impact factor: 11.205
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