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Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)

Genomics, 2012
We performed a detailed genomic investigation of the chimpanzee locus syntenic to human chromosome 4q35.2, associated to the facioscapulohumeral dystrophy. Two contigs of approximately 150 kb and 200 kb were derived from PTR chromosomes 4q35 and 3p12, respectively: both regions showed a very similar sequence organization, including D4Z4 and Beta ...
Marta Giussani, Maria Francesca Cardone, Beatrice Bodega   +2 more
exaly   +5 more sources

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Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

Annals of Neurology, 2005
AbstractFacioscapulohumeral muscular dystrophy (FSHD) progressively affects the facial, shoulder, and upper arm muscles and is associated with contractions of the polymorphic D4Z4 repeat array in 4q35. Recently, we demonstrated that FSHD alleles are hypomethylated at D4Z4.
Overveld, P.G, Enthoven, L., Ricci, E., Rossi, M., Felicetti, L., Jeanpierre, M., Winokur, S.T., Frants, R.R., Padberg, G.W.A.M., Maarel, S.M. van der   +9 more
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Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

2022
Summary Facioscapulohumeral muscular dystrophy (FSHD) can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repeat on chromosome 4q35, and FSHD2, caused by mild contraction of the D4Z4 repeat plus aberrant hypomethylation mediated by genetic variants in SMCHD1, DNMT3B
Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Dae-Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, Shinichiro Hayashi, Yuichi Goto, Satoru Noguchi, Ichizo Nishino   +18 more
openaire   +1 more source

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2005
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contractions of D4Z4 in two successive generations.
Silvere Van Der Maarel, Richard Lemmers, Ivailo Tournev   +2 more
exaly   +4 more sources

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder caused by abnormal expression of the DUX4 protein, commonly resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal. More than 10 units of the D4Z4 repeat, with a length of 3.3 kb per unit, are typically required to silence DUX4 ...
Patra Yeetong, Vorasuk Shotelersuk, Oranee Sanmaneechai   +2 more
exaly   +3 more sources

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

Neurology, 2007
Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q. This D4Z4 contraction is associated with significant allele-specific hypomethylation of the repeat. Hypomethylation of D4Z4 is also observed in patients with phenotypic FSHD without contraction of D4Z4 and in ...
Greef, J.C. de, Wohlgemuth, M., Chan, O.A., Hansson, K.B., Smeets, D.F.C.M., Frants, R.R., Weemaes, C.M.R., Padberg, G.W.A.M., Maarel, S.M. van der   +8 more
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Macrosatellite epigenetics: the two faces of DXZ4 and D4Z4

Chromosoma, 2009
Almost half of the human genome consists of repetitive DNA. Understanding what role these elements have in setting up chromatin states that underlie gene and chromosome function in complex genomes is paramount. The function of some types of repetitive DNA is obvious by virtue of their location, such as the alphoid arrays that define active centromeres.
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Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

Human Genetics, 2005
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on chromosome 4q. Genetic confirmation of the clinical diagnosis of FSHD is complicated by the presence of a homologous repeat on chromosome 10q and the frequent repeat exchanges between both chromosomes. Here, we describe the genetic evaluation of an FSHD patient
Borian T, Buzhov, Richard J L F, Lemmers, Ivailo, Tournev, Chayka, Dikova, Ivo, Kremensky, Julia, Petrova, Rune R, Frants, Silvère M, van der Maarel   +7 more
openaire   +2 more sources

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy

Brain, 2022
Abstract Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy. The conventional diagnostic strategy addresses the known genetic parameters of FSHD: the required presence of ...
Hannes Erdmann, Florentine Scharf, Stefanie Gehling, Anna Benet-Pagès, Sibylle Jakubiczka, Kerstin Becker, Maria Seipelt, Felix Kleefeld, Karl Christian Knop, Eva-Christina Prott, Miriam Hiebeler, Federica Montagnese, Dieter Gläser, Matthias Vorgerd, Tim Hagenacker, Maggie C Walter, Peter Reilich, Teresa Neuhann, Martin Zenker, Elke Holinski-Feder, Benedikt Schoser, Angela Abicht   +21 more
openaire   +4 more sources

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

Human Molecular Genetics, 1994
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.
Jane E. Hewitt, Robert Lyle, Lorraine N. Clark, Elizabeth M. Valleley, Tracy J. Wright, Cisca Wijmenga, Judith C.T. van Deutekom, Fiona Francis, Paul T. Sharpe, Marten Hofker, Rune R. Frants, Robert Williamson   +11 more
openaire   +2 more sources