Emerging preclinical animal models for FSHD

Deenen, 2014, Population-based incidence and prevalence of facioscapulohumeral dystrophy, Neurology, 83, 1056, 10.1212/WNL.0000000000000797 Landouzy, 1885, De la myopathie atrophique progressive, Rev. Med. Fr., 5, 81 Zatz, 1998, The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females, Am. J. Med. Genet., 161, 155, 10.1002/(SICI)1096-8628(19980501)77:2<155::AID-AJMG9>3.0.CO;2-R Brouwer, 1991, Hearing loss in facioscapulohumeral muscular dystrophy, Neurology, 41, 1878, 10.1212/WNL.41.12.1878 Fitzsimons, 1987, Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications, Brain, 110, 631, 10.1093/brain/110.3.631 Lemmers, 2012, Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2, Nat. Genet., 44, 1370, 10.1038/ng.2454 Van der Maarel, 2011, Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence, Trends Mol. Med., 17, 252, 10.1016/j.molmed.2011.01.001 Himeda, 2014, Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease, Antioxid. Redox Signal., 10.1089/ars.2014.6090 Wijmenga, 1990, Location of facioscapulohumeral muscular dystrophy gene on chromosome 4, Lancet, 336, 651, 10.1016/0140-6736(90)92148-B Van Deutekom, 1996, Evidence for subtelomeric exchange of 3.3kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1, Hum. Mol. Genet., 5, 1997, 10.1093/hmg/5.12.1997 Wijmenga, 1992, Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy, Nat. Genet., 2, 26, 10.1038/ng0992-26 Lemmers, 2010, A unifying genetic model for facioscapulohumeral muscular dystrophy, Science, 329, 1650, 10.1126/science.1189044 Lemmers, 2004, Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy, Am. J. Hum. Genet., 75, 1124, 10.1086/426035 Ricci, 2013, Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy, Brain, 136, 3408, 10.1093/brain/awt226 Scionti, 2012, Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy, Am. J. Hum. Genet., 90, 628, 10.1016/j.ajhg.2012.02.019 Sacconi, 2013, The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1, Am. J. Hum. Genet., 93, 744, 10.1016/j.ajhg.2013.08.004 Hewitt, 1994, Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy, Hum. Mol. Genet., 3, 1287, 10.1093/hmg/3.8.1287 Winokur, 1994, The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease, Chromosome Res., 2, 225, 10.1007/BF01553323 De Greef, 2009, Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD, Hum. Mutat., 30, 1449, 10.1002/humu.21091 Van Overveld, 2003, Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy, Nat. Genet., 35, 315, 10.1038/ng1262 Lemmers, R.J. et al. (2014) Department of Human Genetics Gaillard, 2014, Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers, Neurology, 83, 733, 10.1212/WNL.0000000000000708 Gabriels, 1999, Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3kb element, Gene, 236, 25, 10.1016/S0378-1119(99)00267-X Dixit, 2007, DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1, Proc. Natl. Acad. Sci. U.S.A., 104, 18157, 10.1073/pnas.0708659104 Snider, 2010, Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene, PLoS Genet., 6, e1001181, 10.1371/journal.pgen.1001181 Jones, 2012, Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: Evidence for disease modifiers and a quantitative model of pathogenesis, Hum. Mol. Genet., 21, 4419, 10.1093/hmg/dds284 Geng, 2012, DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy, Dev. Cell, 22, 38, 10.1016/j.devcel.2011.11.013 Tassin, 2013, DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?, J. Cell. Mol. Med., 17, 76, 10.1111/j.1582-4934.2012.01647.x Tsumagari, 2011, Gene expression during normal and FSHD myogenesis, BMC Med. Genomics, 4, 67, 10.1186/1755-8794-4-67 Winokur, 2003, Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation, Hum. Mol. Genet., 12, 2895, 10.1093/hmg/ddg327 Bosnakovski, 2008, An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies, EMBO J., 27, 2766, 10.1038/emboj.2008.201 Klooster, 2009, Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level, Eur. J. Hum. Genet., 17, 1615, 10.1038/ejhg.2009.62 Gabellini, 2002, Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle, Cell, 110, 339, 10.1016/S0092-8674(02)00826-7 van Deutekom, 1996, Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35, Hum. Mol. Genet., 5, 581, 10.1093/hmg/5.5.581 Rijkers, 2004, FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients, J. Med. Genet., 41, 826, 10.1136/jmg.2004.019364 van Geel, 2000, Identification of a novel β-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35, Cytogenet. Genome Res., 88, 316, 10.1159/000015518 Caruso, 2013, Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy, PLoS Genet., 9, e1003550, 10.1371/journal.pgen.1003550 Ansseau, 2009, DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation, PLoS ONE, 4, e7482, 10.1371/journal.pone.0007482 Cabianca, 2012, A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in fshd muscular dystrophy, Cell, 149, 819, 10.1016/j.cell.2012.03.035 Snider, 2009, RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy, Hum. Mol. Genet., 18, 2414, 10.1093/hmg/ddp180 Block, 2012, Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production, PLoS ONE, 7, e35532, 10.1371/journal.pone.0035532 Reed, 2007, Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy, Exp. Neurol., 205, 583, 10.1016/j.expneurol.2007.03.009 Pandey, 2012, Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice, Biol. Open, 1, 629, 10.1242/bio.20121305 Dmitriev, 2013, Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients, J. Biol. Chem., 288, 34989, 10.1074/jbc.M113.504522 Harafuji, 2013, miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors, Orphanet J. Rare Dis., 8, 55, 10.1186/1750-1172-8-55 Leidenroth, 2010, A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene, BMC Evol. Biol., 10, 364, 10.1186/1471-2148-10-364 Sharma, 2013, DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 Cells, PLoS ONE, 8, e64691, 10.1371/journal.pone.0064691 Young, 2013, DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis, PLoS Genet., 9, e1003947, 10.1371/journal.pgen.1003947 Ferri, 2015, Direct interplay between two candidate genes in FSHD muscular dystrophy, Hum. Mol. Genet., 24, 1256, 10.1093/hmg/ddu536 Celegato, 2006, 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, Proteomics, 6, 5303, 10.1002/pmic.200600056 Wuebbles, R.D. et al. (2010) Testing the effects of FSHD candidate gene expression in vertebrate muscle development. 3, 386–400 Mitsuhashi, 2013, Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy, Hum. Mol. Genet., 22, 568, 10.1093/hmg/dds467 Geng, 2011, Immunodetection of human double homeobox 4, Hybridoma, 30, 125, 10.1089/hyb.2010.0094 Wallace, 2011, DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo, Ann. Neurol., 69, 540, 10.1002/ana.22275 Krom, 2013, Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD, PLoS Genet., 9, e1003415, 10.1371/journal.pgen.1003415 Dandapat, 2014, Dominant lethal pathologies in male mice engineered to contain an X-Linked DUX4 transgene, Cell Rep., 8, 1484, 10.1016/j.celrep.2014.07.056 Gabellini, 2006, Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1, Nature, 439, 973, 10.1038/nature04422 Zhang, 2014, Human skeletal muscle xenograft as a new preclinical model for muscle disorders, Hum. Mol. Genet., 23, 10.1093/hmg/ddu028 Broucqsault, 2013, Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy, Hum. Mol. Genet., 22, 4206, 10.1093/hmg/ddt272 Alexiadis, 2007, RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA, Biochim. Biophys. Acta, 1769, 29, 10.1016/j.bbaexp.2006.11.006 Osborne, 2006, Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy, Neurology, 68, 569, 10.1212/01.wnl.0000251269.31442.d9 Jiang, 2003, Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q, Hum. Mol. Genet., 12, 2909, 10.1093/hmg/ddg323 Puppo, 2015, Identification of variants in the 4q35 gene FAT1 in patients with facioscapulohumeral dystrophy-like phenotype, Hum. Mutat., 10.1002/humu.22760 Marcil, 2003, Pitx1 and Pitx2 are required for development of hindlimb buds, Development, 130, 45, 10.1242/dev.00192 Gurnett, 2008, Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation, Am. J. Hum. Genet., 83, 616, 10.1016/j.ajhg.2008.10.004 Tonini, 2004, Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD), Neuromuscul. Disord., 14, 33, 10.1016/j.nmd.2003.07.001 Arashiro, 2009, Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers, Proc. Natl. Acad. Sci. U.S.A., 106, 6220, 10.1073/pnas.0901573106 Rocha, 2010, Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies, Curr. Neurol. Neurosci. Rep., 10, 267, 10.1007/s11910-010-0119-1 Pandya, 2008, Facioscapulohumeral dystrophy, Phys. Ther., 88, 105, 10.2522/ptj.20070104 Tawil, 2014, Facioscapulohumeral dystrophy: the path to consensus on pathophysiology, Skelet. Muscle, 4, 12, 10.1186/2044-5040-4-12 Richards, 2012, Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?, Hum. Genet., 131, 325, 10.1007/s00439-011-1100-z