Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)

Neuromuscular Disorders

Volumn 7, Issue 1, 1997, Pages 55-62

  Fisher, Julia ^a   Upadhyaya, Meena ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Chromosome; EcoRI; Facioscapulohumeral muscular dystrophy

Indexed keywords

REPETITIVE DNA;

ARM MUSCLE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 4Q; DNA POLYMORPHISM; FACE MUSCLE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE DELETION; HOMEOBOX; MOLECULAR GENETICS; MUSCLE WEAKNESS; ONSET AGE; PRIORITY JOURNAL; TELOMERE;

ANIMALS; ARM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; FACE; GENE REARRANGEMENT; HUMANS; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, ANIMAL; SHOULDER;

EID: 0030984543     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00400-2     Document Type: Article

References (69)

1. [1] Landouzy L. Dejerine J. De la myopathie atrophique progressive. Rev Med Franc 1885;5:81-253.
2. [2] Padberg G. Facioscapulohumeral disease. MD Thesis. University of Leiden, Leiden.
3. [3] Lunt PW, Harper PS. Genetic counseling in facioscapulohumeral muscular dystrophy. J Med Genet 1991;28:655-64.
4. [4] Padberg GW, Lunt PW, Koch M, Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscular Disord 1991;1:231-34.
5. [5] Fitzsimmons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. Brain 1987;110:631-48.
6. [6] Brouwer OF, Padberg GW, Ruys CJM, Brand R, De Laat JAPM, Grote JJ. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991;41:1878-81.
7. [7] Padberg GW, Brouwer OF, De Keizer RJW, Dijkman G, Wijmenga C, Grote JJ, Frants RR. On the significance of retinal vascular-disease and hearing-loss in facioscapulohumeral muscular-dystrophy. Muscle Nerve 1995;S2:S73-S80.
8. [8] Lunt PW, Compston DAS, Harper PS. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimizing ascertainment bias. J Med Genet 1989;26:755-60.
9. [9] Munsat TL. Facioscapulohumeral dystrophy and the scapuloperoneal syndrome. In: Engel AG, Banker BQ, editors. Myology New York: McGraw Hill, 1986.
10. [10] Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. A scapular onset muscular dystrophy without facial involvement-possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscular Disord 1994;4(5-6):477-82.
11. [11] Padberg G, Eriksson AW, Volkers WS et al. Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy. J Neurol Sci 1984;65:261-68.
12. [12] Padberg GW, Klasen EC, Volkers WS, de Lange GG, Wintzen AR. Linkage studies in facioscapulohumeral muscular dystrophy. Muscle Nerve 1988;11:833-35.
13. [13] Sarfarazi M, Upadhyaya M, Padberg G, Pericak-Vance MA, Siddique T, Lucotte G, Lunt PW. Construction of an exclusion map for facioscapulohumeral muscular-dystrophy from the linkage data. Cytogenet Cell Genet 1989;51(1-4):1073-74.
14. [14] Upadhyaya M, Sarfarazi M, Lunt PW, Broadhead W, Harper PS. A genetic linkage study of facioscapulohumeral (Landouzy-Dejerine) disease with 24 polymorphic DNA probes. J Med Genet 1989;26:490-93.
15. [15] Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet 1990;336:1320-21.
16. [16] Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-53.
17. [17] Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. J Med Genet 1991;28(10):665-71.
18. [18] Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner ECB et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics 1991;9:570-75.
19. [19] Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K, Murray J, Gilbert J, Pericak-Vance M, Lunt P, Frants RR, Jacobsen S, Harper PS, Padberg GW. Regional mapping of facioscapulohumeral muscular-dystrophy gene on 4q35 - combined analysis of an international consortium. Am J Hum Genet 1992;51:396-403.
20. [20] Wijmenga C, Sandkuijl LA, Moerer P, Van Der Boom N, Bodrug SE, Ray PN, Brouwer OF, Murray JC, Van Ommen GJB, Padberg GW, Krauts RR. Genetic-linkage map of facioscapulohumeral muscular-dystrophy and 5 polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992;51:411-15.
21. [21] Mathews KD, Mills KA, Bosch EP, Ionasescu VV, Wiles KR, Buetow KH, Murray JC. Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35. Am J Hum Genet 1992;51:428-31.
22. [22] Weiffenbach B, Bagley R, Falls K, Hyser C, Storvick D, Jacobsen SJ. Schultz P, Mendell J, Van Dijk KW, Milner ECB, Griggs R. Linkage analyses of 5 chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. Am J Hum Genet 1992;51:416-23.
23. [23] Mills KA, Buetow KH, Xu Y, Ritty TM, Mathews KD, Bodrug SE, Wijmenga C, Balazs I, Murray JC. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1992;51:432-39.
24. [24] Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. The mapping of chromosome-4q markers in relation to facioscapulohumeral muscular-dystrophy (FSHD). Am J Hum Genet 1992;51:404-10.
25. [25] Winokur ST, Schutte B, Weiffenbach B, Washington SS, McElligott D, Chakravarti A, Wasmuth JH, Altherr MR. A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1993;53:874-80.
26. [26] Altherr MR, Bengtsson U, Markovich RP, Winokur ST. Efforts toward understanding the molecular-basis of facioscapulohumeral muscular-dystrophy. Muscle Nerve 1995;S2:S32-S38.
27. [27] Gilbert JR, Stajich JM, Wall S, Carter SC, Qiu H, Vance JM, Stewart CS, Speer MC, Pufky J, Yamaoka LH, Rozear M, Samson F, Fardeau M, Roses AD, Pericak-Vance MA. Evidence for heterogeneity in facioscapulohumeral muscular-dystrophy (FSHD). Am J Hum Genet 1993;53:401-408.
28. [28] Gilbert JR, Speer MC, Stajich J, Clancy R, Lewis K, Qiu H, Yamaoka L, Kumar A, Vance J, Stewart C, Rozear M, Roses AD, Pericak-Vance MA. Exclusion mapping of chromosomal regions which cross hybridize to FSHDIA associated markers in FSHDIB. J Med Genet 1995;32(10):770-73.
29. [29] Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, Van Ommen GJB, Padberg GW, Krauts RR. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30.
30. [30] Wijmenga C, Van Deutekom JCT, Hewitt JE, Padberg GW, Van Ommen GJB, Hofker MH, Frants RR. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 1994;19:21-26.
31. [31] Van Deutekom JCT, Wijmenga C, Van Tienhoven EAE, Gruter AM, Frants RR, Hewitt JE, Padberg GW, Van Ommen GJB, Hofker MH. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2(12):2037-42.
32. [32] Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants RR, Harper PS, Lunt PW. Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Hum Mol Genet 1993;2(7):981-87.
33. [33] Wijmenga C, Frants RR, Hewitt JE, van Deutekom JCT, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GB. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscular Disord 1993;3(5-6):487-91.
34. [34] Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. 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(5):951-58.
35. [35] Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. 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(7):1243-44. (Erratum to Hum Mol Genet 1995;4(5):951-58.
36. [36] Wijmenga C, Wright TJ, Baan MI, Padberg GW, Williamson R, Van Ommen GJB, Hewitt JE, Hofker MH, Frants RR. Physical mapping and YAC-cloning connects 4 genetically distinct 4qter loci (D45163, D45139, D4F35S1 and D4F104S1) in the FSHD gene region. Hum Mol Genet 1993;2(10):1667-72.
37. [37] Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet 1993;2(10):1673-78.
38. [38] Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, Van Deutekom JCT, Francis F, Sharpe PT, Hofker M, Frants RR, Williamson R. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994;3(8):1287-95.
39. [39] Bengtsson U, Altherr MR, Wasmuth JJ, Winokur ST. High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Hum Mol Genet 1994;3(10):1801-05.
40. [40] Lee JH, Goto K, Matsuda C, Arahata K. Characterization of a tandemly repeated 3.3 kb Kpn1 unit in the facioscapulohumeral muscular-dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve 1995;S2:S6-S13.
41. [41] Winokur ST, Bengtsson L, Wasmuth JJ, Altherr MR. Mildly repetitive sequences closely linked to the facioscapulohumeral muscular dystrophy gene on distal chromosome 4q cross hybridize to regions of heterochromatin. Cytogenet Cell Genet 1994;66(4):231.
42. [42] Lyle R, Wright TJ, Clark LN, Hewitt JF. 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;28:389-97.
43. [43] Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet 1995;3(3):155-67.
44. [44] Bakker E, Wijmenga C, Vossen RHAM, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR. The FSHD-Linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 1995;S2:S39-S44.
45. [45] Bakker E, Van der Wielen MJR, Voorhoeve E, Ippel PF, Padberg GW, Frants RR, Wijmenga C. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet 1996;33:29-35.
46. [46] Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Phenotypic-genotypic correlation will assist genetic counseling in 4q35 facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;52:S103-S109.
47. [47] Deidda G, Cacurri S, Piazzo N, Felicetti F. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996;33:361-65.
48. [48] Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy. J Med Genet (in press).
49. [49] Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper PS, Lunt P. Germinal mosaicism in facioscapulohumeral muscular-dystrophy (FSHD). Muscle Nerve 1995;S2:S45-S49.
50. [50] Kohler J, Rupilius B, Otto M, Bathke K, Koch MC. Germime mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHDIA) occurring predominantly in oogenesis. Hum Genet 1996: (in press).
51. [51] Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, Schultz P, Olandt S, Frants RR, Pericak-Vance M, Griggs RCTI. Mapping the facioscapulohumeral muscular-dystrophy gene is complicated by chromosome-4q35 recombination events. Nat Genet 1993;4(2):165-69.
52. [52] Van Deutekom JCT, Lemmers RJLF, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 1996;5(5):581-90.
53. [53] Van Deutekom JCT, Hofker MH, Romberg S, Van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve 1995;S2:S19-S26.
54. [54] Upadhyaya M, Osborn M, Maynard J, Altherr M, Ikeda J, Harper PS. Towards the finer mapping of facioscapulohumeral dystrophy at 4q35: construction of a laser microdissection library. Am J Med Genet 1995;60(3):244-51.
55. [55] John RM, Robbins CA, Myers RM. Identification of genes within CpG-enriched DNA from human chromosome 4p16.3. Hum Mol Genet 1994;3(9):1611-16.
56. [56] Lane PW, Beamer TC, Myers DD. Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered 1976;67:135-38.
57. [57] Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schleper RL, Smith R. Phenotypic and pathological evaluation of the myd mouse, a candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 1995;54(4):601-06.
58. [58] Elgar G, Sandford R, Aparicio S, Macrae A, Venkatesh B, Brenner S. Small is beautiful: comparative genomics with lhe pufferfish (Fugu rubripes). Trends Genet 1996;12(4):145-50.
59. [59] Dunne J, Hanby AM, Poulsom R, Jones TA, Sheer D, Chin WG, Da SM, Zhao Q, Beverley PCL, Owen MI. Molecular cloning and tissue expression of FAT, the human homologue of the drosophila fat gene that is located on chromosome 4q34-4q35 and encodes a putative adhesion molecule. Genomics 1995;30:207-23.
60. [60] Kraft HG, Haibach C, Lingenhel A, Brunner C, Trommsdorff M, Kronenberg F, Muller HJ, Utermann G. Sequence polymorphism in kringle IV 37 in linkage disequilibrium with the apolipoprotein(a) size polymorphism. Hum Genet 1995;95:275-82.
61. [61] Wilson C. Position effects on eukaryotic gene expression. Ann Rev Cell Biol 1990;6:679-714.
62. [62] Henikoff S. Position effect variegation after 60 years. Trends Genet 1990;6:422-26.
63. [63] Eissenberg JC, Ligin SCR. Boundary functions in the control of gene expression. Trends Genet 1991:7(10):335-39.
64. [64] Weiler KS, Wakimoto BT. Heterochromatin and gene expression in Drosophila. Ann Rev Genet 1995;29:577-605.
65. [65] Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996;33(5):366-70.
66. [66] Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, Israel J. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am J Med Genet 1988;31:533-48.
67. [67] Capel B, Rasberry C, Dyson J, Bishop CH, Simpson E, Vivian N, Lovell-Badge R, Rastan S, Cattanach BM. Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. Nat Genet 1993;5:301-07.
68. [68] Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, Danes S, van Heyningen V, Hanson I, Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 1995;4(3):415-22.
69. [69] Hanson I, van Heyningen V. PAX6: more than meets the eye. Trends Genet 1995;11(7):268-72.