Facioscapulohumeral muscular dystrophy: Molecular pathological advances and future directions

Current Opinion in Neurology

Volumn 24, Issue 5, 2011, Pages 423-428

  Statland, Jeffrey M ^a   Tawil, Rabi ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Double homeobox; DUX4; facioscapulohumeral; muscular dystrophy; myopathy

Indexed keywords

MESSENGER RNA;

CHROMOSOME 4Q; DUX4 GENE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE; GENE EXPRESSION; GENETICS; HETEROCHROMATIN; HUMAN; MICROSATELLITE MARKER; NONHUMAN; PATHOPHYSIOLOGY; PROGNOSIS; REVIEW;

CHROMOSOMES, HUMAN, PAIR 4; GENE EXPRESSION REGULATION; GENE SILENCING; HOMEODOMAIN PROTEINS; HUMANS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION;

EID: 80052443371     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32834959af     Document Type: Review

References (58)

1. Flanigan KM, Coffeen CM, Sexton L, et al. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001; 11:525-529. (Pubitemid 32761794)
2. Mostacciuolo ML, Pastorello E, Vazza G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009; 75:550-555.
3. Padberg GW. Facioscapulohumeral disease. Thesis. Leiden, the Netherlands: University of Leiden; 1982.
4. van der Maarel SM, Tawil R, Tapscott SJ. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med 2011; 17:252-258.
5. de Greef JC, Lemmers RJ, Camano P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010; 75:1548-1554.
6. Landouzy L, Dejerine J. Progressive atrophic myopathy (De la myopathie atrophique progressive). C R Acad Sci: Comptes rendus de l'Acadé mie des Sciences 1884; 98:53-55.
7. Lunt PW, Jardine PE, Koch MP, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995; 4:951-958.
8. Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998; 50:1791-1794. (Pubitemid 28283253)
9. Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain 1987; 110 (Pt 3):631-648. (Pubitemid 17081165)
10. Padberg GW, Brouwer OF, de Keizer RJ, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 2:S73-80.
11. Bass SJ, Sherman J, Giovinazzo V. Bilateral Coats' response in a female patient leads to diagnosis of facioscapulohumeral muscular dystrophy. Optometry 2011; 82:72-76.
12. Bindoff LA, Mjellem N, Sommerfelt K, et al. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscul Disord 2006; 16 (9-10):559-563. (Pubitemid 44374321)
13. Shields CL, Zahler J, Falk N, et al. Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol 2007; 125:840-842. (Pubitemid 46919751)
14. Fitzsimons RB. Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? Neuromuscul Disord 2011; 21:263-271.
15. Laforet P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998; 51: 1454-1456. (Pubitemid 28520577)
16. Wohlgemuth M, van der Kooi EL, van Kesteren RG, et al. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 2004; 63:176-178. (Pubitemid 38943803)
17. The FSH-DY Group. A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. Neurology 1997; 48:38-46.
18. Stubgen JP, Stipp A. Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. J Neurol 2010; 257:1457-1464.
19. Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992; 2:26-30.
20. van Deutekom JC, Wijmenga C, van Tienhoven EA, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993; 2:2037-2042. (Pubitemid 24003395)
21. van Deutekom JC, Bakker E, Lemmers RJ, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996; 5:1997-2003. (Pubitemid 26413645)
22. Wijmenga C, Frants RR, Brouwer OF, et al. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990; 336:651-653. (Pubitemid 20288865)
23. Orrell RW, Tawil R, Forrester J, et al. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 1999; 52:1822-1826. (Pubitemid 29260895)
24. Gabriels J, Beckers MC, Ding H, et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 1999; 236:25-32. (Pubitemid 29347656)
25. Hewitt JE, Lyle R, Clark LN, et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994; 3:1287-1295. (Pubitemid 24255461)
26. Lyle R, Wright TJ, Clark LN, et al. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 1995; 28:389-397.
27. Clapp J, Mitchell LM, Bolland DJ, et al. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81:264-279. (Pubitemid 47236075)
28. Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002; 110:339-348.
29. Gabellini D, D'Antona G, Moggio M, et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006; 439:973-977. (Pubitemid 43292415)
30. Dmitriev P, Lipinski M, Vassetzky YS. Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2009; 19:17-20.
31. Jiang G, Yang F, van Overveld PG, et al. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 2003; 12:2909-2921. (Pubitemid 37442019)
32. Tupler R, Berardinelli A, Barbierato L, et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996; 33:366-370. (Pubitemid 26147866)
33. Bakker E, Wijmenga C, Vossen RH, et al. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 1995; 2:S39-44.
34. Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996; 33:361-365. (Pubitemid 26147865)
35. van Overveld PG, Lemmers RJ, Deidda G, et al. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet 2000; 9:2879-2884.
36. Lemmers RJ, van der Vliet PJ, van der Gaag KJ, et al. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. Am J Hum Genet 2010; 86:364-377.
37. Lemmers RJ, de Kievit P, van Geel M, et al. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 2001; 50:816-819. (Pubitemid 33116145)
38. Zhang Y, Forner J, Fournet S, Jeanpierre M. Improved characterization of FSHD mutations. Ann Genet 2001; 44:105-110. (Pubitemid 32826004)
39. Lemmers RJ, de Kievit P, Sandkuijl L, et al. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 2002; 32:235-236.
40. Lemmers RJ, Van Overveld PG, Sandkuijl LA, et al. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet 2004; 75:44-53. (Pubitemid 38801900)
41. van Geel M, Dickson MC, Beck AF, et al. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics 2002; 79:210-217.
42. Thomas NS, Wiseman K, Spurlock G, et al. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet 2007; 44:215-218. (Pubitemid 46580532)
43. Lemmers RJ, van der Vliet PJ, Klooster R, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010; 329:1650-1653.
44. Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81:884-894. (Pubitemid 47580243)
45. Spurlock G, Jim HP, Upadhyaya M. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle Nerve 2010; 42:820-821.
46. Robertson KD, Wolffe AP. DNA methylation in health and disease. Nat Rev Genet 2000; 1:11-19.
47. van Overveld PG, Lemmers RJ, Sandkuijl LA, et al. Hypomethylation of D4Z4 in 4q-linked and non4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003; 35:315-317. (Pubitemid 37486913)
48. Zeng W, de Greef JC, Chen YY, et al. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 2009; 5:e1000559.
49. de Greef JC, Lemmers RJ, van Engelen BG, et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 2009; 30:1449-1459.
50. Leidenroth A, Hewitt JE. A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene. BMC Evol Biol 2010; 10:364. The authors investigate the evolutionary history of the DUX4 gene. Its evolutionary conservation provided strong evidence that it is an expressed gene.
51. Wu SL, Tsai MS, Wong SH, et al. Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl. Dev Dyn 2010; 239:927-940.
52. Dixit M, Ansseau E, Tassin A, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 2007; 104:18157-18162. (Pubitemid 350210837)
53. Kowaljow V, Marcowycz A, Ansseau E, et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 2007; 17:611-623. (Pubitemid 47030917)
54. Snider L, Asawachaicharn A, Tyler AE, et al. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 2009; 18:2414-2430.
55. Bosnakovski D, Daughters RS, Xu Z, et al. Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One 2009; 4:e7003.
56. Bosnakovski D, Xu Z, Gang EJ, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 2008; 27:2766-2779.
57. Wuebbles RD, Long SW, Hanel ML, Jones PL. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol 2010; 3:386-400.
58. Snider L, Geng LN, Lemmers RJ, et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet 2010; 6:e1001181.