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Volumn 3, Issue 10, 2008, Pages

A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; CHROMOSOME PROTEIN; PROTEIN FRG1; UNCLASSIFIED DRUG; FRG1 PROTEIN, HUMAN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR;

EID: 54449097230     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0003389     Document Type: Article
Times cited : (34)

References (32)
  • 1
    • 0027744223 scopus 로고
    • FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
    • van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, et al. (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.
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • van Deutekom, J.C.1    Wijmenga, C.2    van Tienhoven, E.A.3    Gruter, A.M.4    Hewitt, J.E.5
  • 2
    • 0032862871 scopus 로고    scopus 로고
    • The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements
    • van Geel M, Heather LJ, Lyle R, Hewitt JE, Frants RR, et al. (1999) The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics 61: 55-65.
    • (1999) Genomics , vol.61 , pp. 55-65
    • van Geel, M.1    Heather, L.J.2    Lyle, R.3    Hewitt, J.E.4    Frants, R.R.5
  • 3
    • 36749026295 scopus 로고    scopus 로고
    • DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
    • Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, et al. (2007) DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 104: 18157-18162.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 18157-18162
    • Dixit, M.1    Ansseau, E.2    Tassin, A.3    Winokur, S.4    Shi, R.5
  • 4
    • 54449083374 scopus 로고    scopus 로고
    • Pearls in junk: Dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy
    • in press: DOI: 10.1016/j.nmd.2008.1009.1004
    • Dmitriev P, Lipinski M, Vassetzky YS (2008) Pearls in junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Neuromuscular Disorders in press: DOI: 10.1016/j.nmd.2008.1009.1004.
    • (2008) Neuromuscular Disorders
    • Dmitriev, P.1    Lipinski, M.2    Vassetzky, Y.S.3
  • 5
    • 0037047439 scopus 로고    scopus 로고
    • Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
    • Gabellini D, Green MR, Tupler R (2002) Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110: 339-348.
    • (2002) Cell , vol.110 , pp. 339-348
    • Gabellini, D.1    Green, M.R.2    Tupler, R.3
  • 7
    • 8744240156 scopus 로고    scopus 로고
    • FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
    • Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, et al. (2004) FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet 41: 826-836.
    • (2004) J Med Genet , vol.41 , pp. 826-836
    • Rijkers, T.1    Deidda, G.2    van Koningsbruggen, S.3    van Geel, M.4    Lemmers, R.J.5
  • 8
    • 16844364725 scopus 로고    scopus 로고
    • Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
    • Laoudj-Chenivesse D, Carnac G, Bisbal C, Hugon G, Bouillot S, et al. (2005) Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 83: 216-224.
    • (2005) J Mol Med , vol.83 , pp. 216-224
    • Laoudj-Chenivesse, D.1    Carnac, G.2    Bisbal, C.3    Hugon, G.4    Bouillot, S.5
  • 10
    • 0344875044 scopus 로고    scopus 로고
    • Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
    • Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, et al. (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 12: 2895-2907.
    • (2003) Hum Mol Genet , vol.12 , pp. 2895-2907
    • Winokur, S.T.1    Chen, Y.W.2    Masny, P.S.3    Martin, J.H.4    Ehmsen, J.T.5
  • 11
    • 33847234593 scopus 로고    scopus 로고
    • Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
    • Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R (2007) Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68: 569-577.
    • (2007) Neurology , vol.68 , pp. 569-577
    • Osborne, R.J.1    Welle, S.2    Venance, S.L.3    Thornton, C.A.4    Tawil, R.5
  • 13
    • 38049094992 scopus 로고    scopus 로고
    • A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: Implications for the facio-scapulo-humeral dystrophy
    • Petrov AV, Allinne J, Pirozhkova IV, Laoudj D, Lipinski M, et al. (2008) A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res 18: 39-45.
    • (2008) Genome Res , vol.18 , pp. 39-45
    • Petrov, A.V.1    Allinne, J.2    Pirozhkova, I.V.3    Laoudj, D.4    Lipinski, M.5
  • 14
    • 33646485687 scopus 로고    scopus 로고
    • Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
    • Petrov A, Pirozhkova I, Laoudj D, Carnac G, Lipinski M, et al. (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.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 6982-6987
    • Petrov, A.1    Pirozhkova, I.2    Laoudj, D.3    Carnac, G.4    Lipinski, M.5
  • 15
    • 0036788610 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
    • Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, et al. (2002) Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 32: 235-236.
    • (2002) Nat Genet , vol.32 , pp. 235-236
    • Lemmers, R.J.1    de Kievit, P.2    Sandkuijl, L.3    Padberg, G.W.4    van Ommen, G.J.5
  • 16
    • 8844227430 scopus 로고    scopus 로고
    • Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
    • Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, et al. (2004) Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 75: 1124-1130.
    • (2004) Am J Hum Genet , vol.75 , pp. 1124-1130
    • Lemmers, R.J.1    Wohlgemuth, M.2    Frants, R.R.3    Padberg, G.W.4    Morava, E.5
  • 18
    • 0036923833 scopus 로고    scopus 로고
    • Looping and interaction between hypersensitive sites in the active beta-globin locus
    • Tolhuis B, Palstra RJ, Splinter E, Grosveld F, de Laat W (2002) Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol Cell 10: 1453-1465.
    • (2002) Mol Cell , vol.10 , pp. 1453-1465
    • Tolhuis, B.1    Palstra, R.J.2    Splinter, E.3    Grosveld, F.4    de Laat, W.5
  • 20
    • 9244232833 scopus 로고    scopus 로고
    • Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
    • van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, et al. (1996) Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5: 581-590.
    • (1996) Hum Mol Genet , vol.5 , pp. 581-590
    • van Deutekom, J.C.1    Lemmers, R.J.2    Grewal, P.K.3    van Geel, M.4    Romberg, S.5
  • 21
    • 0025227859 scopus 로고
    • OXBOX, a positive transcriptional element of the heart-skeletal muscle ADP/ATP translocator gene
    • Li K, Hodge JA, Wallace DC (1990) OXBOX, a positive transcriptional element of the heart-skeletal muscle ADP/ATP translocator gene. J Biol Chem 265: 20585-20588.
    • (1990) J Biol Chem , vol.265 , pp. 20585-20588
    • Li, K.1    Hodge, J.A.2    Wallace, D.C.3
  • 22
    • 0344436078 scopus 로고    scopus 로고
    • Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
    • Gabriels J, Beckers MC, Ding H, De Vriese A, Plaisance S, 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.
    • (1999) Gene , vol.236 , pp. 25-32
    • Gabriels, J.1    Beckers, M.C.2    Ding, H.3    De Vriese, A.4    Plaisance, S.5
  • 23
    • 0035707952 scopus 로고    scopus 로고
    • Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin
    • van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, et al. (2002) Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics 79: 210-217.
    • (2002) Genomics , vol.79 , pp. 210-217
    • van Geel, M.1    Dickson, M.C.2    Beck, A.F.3    Bolland, D.J.4    Frants, R.R.5
  • 24
    • 0032819056 scopus 로고    scopus 로고
    • Somatic pairing between subtelomeric chromosome regions: Implications for human genetic disease?
    • Stout K, van der Maarel S, Frants RR, Padberg GW, Ropers HH, et al. (1999) Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease? Chromosome Res 7: 323-329.
    • (1999) Chromosome Res , vol.7 , pp. 323-329
    • Stout, K.1    van der Maarel, S.2    Frants, R.R.3    Padberg, G.W.4    Ropers, H.H.5
  • 26
    • 33846552507 scopus 로고    scopus 로고
    • Selective matrix attachment regions in T helper cell subsets support loop conformation in the Ifng gene
    • Eivazova ER, Vassetzky YS, Aune TM (2007) Selective matrix attachment regions in T helper cell subsets support loop conformation in the Ifng gene. Genes Immun 8: 35-43.
    • (2007) Genes Immun , vol.8 , pp. 35-43
    • Eivazova, E.R.1    Vassetzky, Y.S.2    Aune, T.M.3
  • 27
    • 0345257778 scopus 로고    scopus 로고
    • Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    • van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, et al. (2003) Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35: 315-317.
    • (2003) Nat Genet , vol.35 , pp. 315-317
    • van Overveld, P.G.1    Lemmers, R.J.2    Sandkuijl, L.A.3    Enthoven, L.4    Winokur, S.T.5
  • 28
    • 33745715007 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy
    • Tawil R, Van Der Maarel SM (2006) Facioscapulohumeral muscular dystrophy. Muscle Nerve 34: 1-15.
    • (2006) Muscle Nerve , vol.34 , pp. 1-15
    • Tawil, R.1    Van Der Maarel, S.M.2
  • 29
    • 54449098190 scopus 로고    scopus 로고
    • Primary myoblasts derived from the facioscapulohumeral dystrophy patients are hypersensitive to oxidative stress and show defects upon terminal differentiation
    • in press
    • Barro M, Carnac G, Flavier S, Mercier J, Vassetzky YS, et al. (2008) Primary myoblasts derived from the facioscapulohumeral dystrophy patients are hypersensitive to oxidative stress and show defects upon terminal differentiation. J Cell Mol Med in press.
    • (2008) J Cell Mol Med
    • Barro, M.1    Carnac, G.2    Flavier, S.3    Mercier, J.4    Vassetzky, Y.S.5
  • 30
    • 0346458664 scopus 로고    scopus 로고
    • Dynamic alterations in the conformation of the Ifng gene region during T helper cell differentiation
    • Eivazova ER, Aune TM (2004) Dynamic alterations in the conformation of the Ifng gene region during T helper cell differentiation. Proc Natl Acad Sci U S A 101: 251-256.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 251-256
    • Eivazova, E.R.1    Aune, T.M.2
  • 31
    • 0030133291 scopus 로고    scopus 로고
    • Communication between homologous chromosomes: Genetic alterations at a nuclease-hypersensitive site can alter mitotic chromatin structure at that site both in cis and in trans
    • Keeney S, Kleckner N (1996) Communication between homologous chromosomes: genetic alterations at a nuclease-hypersensitive site can alter mitotic chromatin structure at that site both in cis and in trans. Genes Cells 1: 475-489.
    • (1996) Genes Cells , vol.1 , pp. 475-489
    • Keeney, S.1    Kleckner, N.2
  • 32
    • 0033397091 scopus 로고    scopus 로고
    • Intranuclear relocalization of matrix binding sites during T cell activation detected by amplified fluorescence in situ hybridization
    • Cai S, Kohwi-Shigematsu T (1999) Intranuclear relocalization of matrix binding sites during T cell activation detected by amplified fluorescence in situ hybridization. Methods 19: 394-402.
    • (1999) Methods , vol.19 , pp. 394-402
    • Cai, S.1    Kohwi-Shigematsu, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.