نتایج جستجو برای: d4z4

تعداد نتایج: 154  

Journal: :Human molecular genetics 2009
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

Deletion of a subset of the D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q causes facioscapulohumeral muscular dystrophy (FSHD) when occurring on a specific haplotype of 4qter (4qA161). Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, nor has ...

Journal: :PLoS Genetics 2009
Alexandre Ottaviani Sylvie Rival-Gervier Amina Boussouar Andrea M. Foerster Delphine Rondier Sabrina Sacconi Claude Desnuelle Eric Gilson Frédérique Magdinier

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the FSHD-associated gene(s) through position effect mechanisms. We investigated th...

2013
Sylvie Rival-Gervier Mandy YM Lo Shahryar Khattak Peter Pasceri Matthew C Lorincz James Ellis

Retroviral vectors are silenced in embryonic stem (ES) cells by epigenetic mechanisms whose kinetics are poorly understood. We show here that a 3'D4Z4 insulator directs retroviral expression with persistent but variable expression for up to 5 months. Combining an internal 3'D4Z4 with HS4 insulators in the long terminal repeats (LTRs) shows that these elements cooperate, and defines the first re...

2010
Christopher E. Pearson

Facioscapulohumeral muscular dystrophy (FSHD), was one of the first diseases shown to be caused by an unstable repeat in the early 1990s along with spinal and bulbar muscular atrophy (SBMA), myotonic dystrophy (DM1), and fragile X mental retardation (FRAXA), where the latter three are caused by genetically expanding trinucleotide repeats [1]. However, FSHD differs considerably from the trinuclo...

Journal: :American journal of human genetics 2012
Isabella Scionti Francesca Greco Giulia Ricci Monica Govi Patricia Arashiro Liliana Vercelli Angela Berardinelli Corrado Angelini Giovanni Antonini Michelangelo Cao Antonio Di Muzio Maurizio Moggio Lucia Morandi Enzo Ricci Carmelo Rodolico Lucia Ruggiero Lucio Santoro Gabriele Siciliano Giuliano Tomelleri Carlo Pietro Trevisan Giuliana Galluzzi Woodring Wright Mayana Zatz Rossella Tupler

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduct...

Journal: :PloS one 2016
Masaki Suimye Morioka Miwako Kitazume Ken Osaki Jonathan Wood Yujiro Tanaka

A majority of facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of macrosatellite repeats called D4Z4 that are located in the subtelomeric region of human chromosome 4q35. Sequencing the FSHD locus has been technically challenging due to its long size and nearly identical nature of repeat elements. Here we report sequencing and partial assembly of a BAC clone carrying an en...

Journal: :Human mutation 2015
Richard J L F Lemmers Marlinde L van den Boogaard Patrick J van der Vliet Colleen M Donlin-Smith Sharon P Nations Claudia A L Ruivenkamp Patricia Heard Bert Bakker Stephen Tapscott Jannine D Cody Rabi Tawil Silvère M van der Maarel

Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated expression in somatic cells of the normally repressed DUX4 gene within the D4Z4-repeat array. The most common form, FSHD1, is caused by a D4Z4-repeat array contraction to a size of 1-10 units (normal range 10-100 units). The less common form, FSHD2, is characterized by D4Z4 CpG hypomethylation and is most oft...

2013
Giulia Ricci Isabella Scionti Francesco Sera Monica Govi Roberto D’Amico Ilaria Frambolli Fabiano Mele Massimiliano Filosto Liliana Vercelli Lucia Ruggiero Angela Berardinelli Corrado Angelini Giovanni Antonini Elisabetta Bucci Michelangelo Cao Jessica Daolio Antonio Di Muzio Rita Di Leo Giuliana Galluzzi Elisabetta Iannaccone Lorenzo Maggi Valerio Maruotti Maurizio Moggio Tiziana Mongini Lucia Morandi Ana Nikolic Ebe Pastorello Enzo Ricci Carmelo Rodolico Lucio Santoro Maura Servida Gabriele Siciliano Giuliano Tomelleri Rossella Tupler

Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of subjects affected by facioscapulohumeral muscular dystrophy do not carry alleles with eight or fewer D...

Journal: :Neuromuscular disorders : NMD 2006
E L van der Kooi J C de Greef M Wohlgemuth R R Frants R J G P van Asseldonk H J Blom B G M van Engelen S M van der Maarel G W Padberg

Facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 allele on chromosome 4qter. There is also marked DNA hypomethylation of the D4Z4 allele. The DNA hypomethylation may have a central role in the pathogenesis of FSHD. Supplemental folic acid can boost DNA methylation. We evaluated the effect of oral folic acid and methionine supplementation on the methylat...

2012
Gregory J. Block Lisa M. Petek Divya Narayanan Amanda M. Amell James M. Moore Natalia A. Rabaia Ashlee Tyler Silvere M. van der Maarel Rabi Tawil Galina N. Filippova Daniel G. Miller

Facioscapulohumeral Disease (FSHD) is a dominantly inherited progressive myopathy associated with aberrant production of the transcription factor, Double Homeobox Protein 4 (DUX4). The expression of DUX4 depends on an open chromatin conformation of the D4Z4 macrosatellite array and a specific haplotype on chromosome 4. Even when these requirements are met, DUX4 transcripts and protein are only ...

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