Literature DB >> 18723032

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.

Jessica C de Greef1, Rune R Frants, Silvère M van der Maarel.   

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis.

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Year:  2008        PMID： 18723032      PMCID： PMC2650037          DOI： 10.1016/j.mrfmmm.2008.07.011

Source DB:  PubMed          Journal:  Mutat Res        ISSN： 0027-5107            Impact factor:   2.433


  89 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.  Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

Authors:  Peter S Masny; Ulla Bengtsson; Seung-Ah Chung; Jorge H Martin; Baziel van Engelen; Silvere M van der Maarel; Sara T Winokur
Journal:  Hum Mol Genet       Date:  2004-07-06       Impact factor: 6.150

Review 4.  Histones and histone modifications.

Authors:  Craig L Peterson; Marc-André Laniel
Journal:  Curr Biol       Date:  2004-07-27       Impact factor: 10.834

5.  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

Review 6.  Functional organization of the nuclear envelope.

Authors:  L Gerace; B Burke
Journal:  Annu Rev Cell Biol       Date:  1988

7.  A major nucleolar protein, nucleolin, induces chromatin decondensation by binding to histone H1.

Authors:  M S Erard; P Belenguer; M Caizergues-Ferrer; A Pantaloni; F Amalric
Journal:  Eur J Biochem       Date:  1988-08-15

8.  Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.

Authors:  Marina Bakay; Zuyi Wang; Gisela Melcon; Louis Schiltz; Jianhua Xuan; Po Zhao; Vittorio Sartorelli; Jinwook Seo; Elena Pegoraro; Corrado Angelini; Ben Shneiderman; Diana Escolar; Yi-Wen Chen; Sara T Winokur; Lauren M Pachman; Chenguang Fan; Raul Mandler; Yoram Nevo; Erynn Gordon; Yitan Zhu; Yibin Dong; Yue Wang; Eric P Hoffman
Journal:  Brain       Date:  2006-02-14       Impact factor: 13.501

9.  Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

Authors:  Barbara Celegato; Daniele Capitanio; Mario Pescatori; Chiara Romualdi; Beniamina Pacchioni; Stefano Cagnin; Agnese Viganò; Luca Colantoni; Shajna Begum; Enzo Ricci; Robin Wait; Gerolamo Lanfranchi; Cecilia Gelfi
Journal:  Proteomics       Date:  2006-10       Impact factor: 3.984

10.  The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres.

Authors:  Rose Tam; Kelly P Smith; Jeanne B Lawrence
Journal:  J Cell Biol       Date:  2004-10-25       Impact factor: 10.539
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  34 in total

1.  High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.

Authors:  Antoine Italiano; Yun Shao Sung; Lei Zhang; Samuel Singer; Robert G Maki; Jean-Michel Coindre; Cristina R Antonescu
Journal:  Genes Chromosomes Cancer       Date:  2011-11-10       Impact factor: 5.006

2.  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 3.  Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

Authors:  Silvère M van der Maarel; Rabi Tawil; Stephen J Tapscott
Journal:  Trends Mol Med       Date:  2011-02-01       Impact factor: 11.951

4.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

Authors:  Lauren Snider; Amy Asawachaicharn; Ashlee E Tyler; Linda N Geng; Lisa M Petek; Lisa Maves; Daniel G Miller; Richard J L F Lemmers; Sara T Winokur; Rabi Tawil; Silvère M van der Maarel; Galina N Filippova; Stephen J Tapscott
Journal:  Hum Mol Genet       Date:  2009-04-09       Impact factor: 6.150

Review 5.  Macrosatellite epigenetics: the two faces of DXZ4 and D4Z4.

Authors:  Brian P Chadwick
Journal:  Chromosoma       Date:  2009-08-19       Impact factor: 4.316

6.  New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Authors:  Mouna Barat-Houari; Karine Nguyen; Rafaëlle Bernard; Céline Fernandez; Catherine Vovan; Corinne Bareil; Philippe Khau Van Kien; Delphine Thorel; Sylvie Tuffery-Giraud; Francis Vasseur; Shahram Attarian; Jean Pouget; Anne Girardet; Nicolas Lévy; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2009-11-25       Impact factor: 4.246

7.  Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.

Authors:  Richard J L F Lemmers; Patrick J van der Vliet; Kristiaan J van der Gaag; Sofia Zuniga; Rune R Frants; Peter de Knijff; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

Review 8.  Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.

Authors:  Charis L Himeda; Takako I Jones; Peter L Jones
Journal:  Antioxid Redox Signal       Date:  2014-12-04       Impact factor: 8.401

9.  Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.

Authors:  Yvonne D Krom; Julie Dumonceaux; Kamel Mamchaoui; Bianca den Hamer; Virginie Mariot; Elisa Negroni; Linda N Geng; Nicolas Martin; Rabi Tawil; Stephen J Tapscott; Baziel G M van Engelen; Vincent Mouly; Gillian S Butler-Browne; Silvère M van der Maarel
Journal:  Am J Pathol       Date:  2012-08-04       Impact factor: 4.307

10.  Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.

Authors:  Ben C Reynolds; Richard J L F Lemmers; John Tolmie; Allan G Howatson; David A Hughes
Journal:  Pediatr Nephrol       Date:  2010-02-27       Impact factor: 3.714
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