Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

American Journal of Human Genetics

Volumn 81, Issue 5, 2007, Pages 884-894

  Lemmers, Richard J L F ^a   Wohlgemuth, Mariëlle ^b   Van Der Gaag, Kristiaan J ^a   Van Der Vliet, Patrick J ^a   Van Teijlingen, Corrie M M ^a   De Knijff, Peter ^a   Padberg, George W ^b   Frants, Rune R ^a   Van Der Maarel, Silvère M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 4Q; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MICROARRAY ANALYSIS; MUSCLE ATROPHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 35348907287     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521986     Document Type: Article

References (23)

1. Padberg GW (1982) Facioscapulohumeral disease. Leiden University, Leiden
2. Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2:26-30
3. van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR (1993) FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2:2037-2042
4. Lemmers RJ, van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM (2004) Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet 75:44-53
5. Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, van Deutekom JC, Francis F, Sharpe PT, Hofker M, et al (1994) Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3:1287-1295
6. Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, et al (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 2:225-234
7. Gabriels J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, et al (1999) Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 236:25-32
8. Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 12:2895-2907
9. Alexiadis V, Ballestas ME, Sanchez C, Winokur S, Vedanarayanan V, Warren M, Ehrlich M (2007) RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA. Biochim Biophys Acta 1769:29-40
10. Gabellini D, Green M, Tupler R (2002) Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110:339-248
11. Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der MS, Ehrlich M (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 12:2909-2921
12. Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST (2004) Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? Hum Mol Genet 13:1857-1871
13. van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM (2003) Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35:315-317
14. Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR (1995) The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 2:S39-S44
15. Deidda G, Cacurri S, Piazzo N, Felicetti L (1996) Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33:361-365
16. van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE (2002) Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics 79:210-217
17. Lemmers RJL, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM (2001) Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 50:816-819
18. Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM (2002) Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 32:235-236
19. Wohlgemuth M, Lemmers RJ, van der Kooi EL, van der Wielen MJ, van Overveld PG, Dauwerse H, Bakker E, Frants RR, Padberg GW, van der Maarel SM (2003) Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology 61:909-913
20. van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM (2000) Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet 9:2879-2884
21. Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM (2004) Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 75:1124-1130
22. Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS (2006) Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci USA 103:6982-6987
23. Clapp J, Mitchell LM, Bolland DJ, Fantes J, Cornocan AE, Scotting PJ, Armour JA, Hewitt JE (2007) Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 81:264-279