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Volumn 9, Issue 3, 2014, Pages

ATRX dysfunction induces replication defects in primary mouse cells

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; HYDROXYUREA; MRE11 PROTEIN; NIBRIN; PROTEIN ATRX; RAD50 PROTEIN; UNCLASSIFIED DRUG;

EID: 84898619104     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092915     Document Type: Article
Times cited : (78)

References (41)
  • 1
    • 77649099092 scopus 로고    scopus 로고
    • Distinct factors control histone variant H3.3 localization at specific genomic regions
    • Goldberg AD, Banaszynski LA, Noh KM, Lewis PW, Elsaesser SJ, et al. (2010) Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell 140: 678-691.
    • (2010) Cell , vol.140 , pp. 678-691
    • Goldberg, A.D.1    Banaszynski, L.A.2    Noh, K.M.3    Lewis, P.W.4    Elsaesser, S.J.5
  • 2
    • 77953955724 scopus 로고    scopus 로고
    • The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3
    • Drane P, Ouararhni K, Depaux A, Shuaib M, Hamiche A (2010) The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3. Genes Dev 24: 1253-1265.
    • (2010) Genes Dev , vol.24 , pp. 1253-1265
    • Drane, P.1    Ouararhni, K.2    Depaux, A.3    Shuaib, M.4    Hamiche, A.5
  • 3
    • 0029128827 scopus 로고
    • Syndromal mental retardation due to mutations in a regulator of gene expression
    • Gibbons RJ, Picketts DJ, Higgs DR (1995) Syndromal mental retardation due to mutations in a regulator of gene expression. Human Molecular Genetics 4: 1705-1709.
    • (1995) Human Molecular Genetics , vol.4 , pp. 1705-1709
    • Gibbons, R.J.1    Picketts, D.J.2    Higgs, D.R.3
  • 4
    • 33646473832 scopus 로고    scopus 로고
    • Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues
    • Garrick D, Sharpe JA, Arkell R, Dobbie L, Smith AJ, et al. (2006) Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. PLoS Genet 2: e58.
    • (2006) PLoS Genet , vol.2
    • Garrick, D.1    Sharpe, J.A.2    Arkell, R.3    Dobbie, L.4    Smith, A.J.5
  • 6
    • 84870491209 scopus 로고    scopus 로고
    • Compromised genomic integrity impedes muscle growth after Atrx inactivation
    • Huh MS, Price O'Dea T, Ouazia D, McKay BC, Parise G, et al. (2012) Compromised genomic integrity impedes muscle growth after Atrx inactivation. J Clin Invest 122: 4412-4423.
    • (2012) J Clin Invest , vol.122 , pp. 4412-4423
    • Huh, M.S.1    Price O'Dea, T.2    Ouazia, D.3    McKay, B.C.4    Parise, G.5
  • 7
    • 79956035605 scopus 로고    scopus 로고
    • Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome
    • Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, et al. (2011) Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Hum Mol Genet 20: 2213-2224.
    • (2011) Hum Mol Genet , vol.20 , pp. 2213-2224
    • Bagheri-Fam, S.1    Argentaro, A.2    Svingen, T.3    Combes, A.N.4    Sinclair, A.H.5
  • 8
    • 38749117849 scopus 로고    scopus 로고
    • Loss of ATRX leads to chromosome cohesion and congression defects
    • DOI 10.1083/jcb.200706083
    • Ritchie K, Seah C, Moulin J, Isaac C, Dick F, et al. (2008) Loss of ATRX leads to chromosome cohesion and congression defects. J Cell Biol 180: 315-324. (Pubitemid 351185918)
    • (2008) Journal of Cell Biology , vol.180 , Issue.2 , pp. 315-324
    • Ritchie, K.1    Seah, C.2    Moulin, J.3    Isaac, C.4    Dick, F.5    Berube, N.G.6
  • 9
    • 3042780173 scopus 로고    scopus 로고
    • ATRX, a member of the SNF2 family of helicase/ATPases, is required for chromosome alignment and meiotic spindle organization in metaphase II stage mouse oocytes
    • DOI 10.1016/j.ydbio.2003.12.012, PII S0012160603007930
    • De La Fuente R, Viveiros MM, Wigglesworth K, Eppig JJ (2004) ATRX, a member of the SNF2 family of helicase/ATPases, is required for chromosome alignment and meiotic spindle organization in metaphase II stage mouse oocytes. Dev Biol 272: 1-14. (Pubitemid 38887280)
    • (2004) Developmental Biology , vol.272 , Issue.1 , pp. 1-14
    • De La, F.R.1    Viveiros, M.M.2    Wigglesworth, K.3    Eppig, J.J.4
  • 10
    • 77958494782 scopus 로고    scopus 로고
    • ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner
    • Law MJ, Lower KM, Voon HP, Hughes JR, Garrick D, et al. (2010) ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner. Cell 143: 367-378.
    • (2010) Cell , vol.143 , pp. 367-378
    • Law, M.J.1    Lower, K.M.2    Voon, H.P.3    Hughes, J.R.4    Garrick, D.5
  • 11
    • 77649262618 scopus 로고    scopus 로고
    • ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells
    • Wong LH, McGhie JD, Sim M, Anderson MA, Ahn S, et al. (2010) ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. Genome Res 20: 351-360.
    • (2010) Genome Res , vol.20 , pp. 351-360
    • Wong, L.H.1    McGhie, J.D.2    Sim, M.3    Anderson, M.A.4    Ahn, S.5
  • 13
    • 79952279828 scopus 로고    scopus 로고
    • DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors
    • Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, et al. (2011) DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 331: 1199-1203.
    • (2011) Science , vol.331 , pp. 1199-1203
    • Jiao, Y.1    Shi, C.2    Edil, B.H.3    De Wilde, R.F.4    Klimstra, D.S.5
  • 14
    • 84862777348 scopus 로고    scopus 로고
    • Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
    • Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, et al. (2012) Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature 482: 226-231.
    • (2012) Nature , vol.482 , pp. 226-231
    • Schwartzentruber, J.1    Korshunov, A.2    Liu, X.Y.3    Jones, D.T.4    Pfaff, E.5
  • 15
    • 33645152790 scopus 로고    scopus 로고
    • Genomic mapping of single-stranded DNA in hydroxyurea-challenged yeasts identifies origins of replication
    • Feng W, Collingwood D, Boeck ME, Fox LA, Alvino GM, et al. (2006) Genomic mapping of single-stranded DNA in hydroxyurea-challenged yeasts identifies origins of replication. Nat Cell Biol 8: 148-155.
    • (2006) Nat Cell Biol , vol.8 , pp. 148-155
    • Feng, W.1    Collingwood, D.2    Boeck, M.E.3    Fox, L.A.4    Alvino, G.M.5
  • 16
    • 84883183357 scopus 로고    scopus 로고
    • The chromatin remodeller ATRX: A repeat offender in human disease
    • Clynes D, Higgs DR, Gibbons RJ (2013) The chromatin remodeller ATRX: a repeat offender in human disease. Trends Biochem Sci 38: 461-466.
    • (2013) Trends Biochem Sci , vol.38 , pp. 461-466
    • Clynes, D.1    Higgs, D.R.2    Gibbons, R.J.3
  • 17
    • 77149135723 scopus 로고    scopus 로고
    • ATR activation and replication fork restart are defective in FANCM-deficient cells
    • Schwab RA, Blackford AN, Niedzwiedz W (2010) ATR activation and replication fork restart are defective in FANCM-deficient cells. EMBO J 29: 806-818.
    • (2010) EMBO J , vol.29 , pp. 806-818
    • Schwab, R.A.1    Blackford, A.N.2    Niedzwiedz, W.3
  • 18
    • 37249004667 scopus 로고    scopus 로고
    • The mammalian DNA replication elongation checkpoint: Implication of Chk1 and relationship with origin firing as determined by single DNA molecule and single cell analyses
    • Conti C, Seiler JA, Pommier Y (2007) The mammalian DNA replication elongation checkpoint: implication of Chk1 and relationship with origin firing as determined by single DNA molecule and single cell analyses. Cell Cycle 6: 2760-2767. (Pubitemid 350277167)
    • (2007) Cell Cycle , vol.6 , Issue.22 , pp. 2760-2767
    • Conti, C.1    Seiler, J.A.2    Pommier, Y.3
  • 19
    • 34250010317 scopus 로고    scopus 로고
    • Chk1 regulates the density of active replication origins during the vertebrate S phase
    • DOI 10.1038/sj.emboj.7601714, PII 7601714
    • Maya-Mendoza A, Petermann E, Gillespie DA, Caldecott KW, Jackson DA (2007) Chk1 regulates the density of active replication origins during the vertebrate S phase. EMBO J 26: 2719-2731. (Pubitemid 46884282)
    • (2007) EMBO Journal , vol.26 , Issue.11 , pp. 2719-2731
    • Maya-Mendoza, A.1    Petermann, E.2    Gillespie, D.A.F.3    Caldecott, K.W.4    Jackson, D.A.5
  • 20
    • 84864619205 scopus 로고    scopus 로고
    • Loss of ATRX, Genome Instability, and an Altered DNA Damage Response Are Hallmarks of the Alternative Lengthening of Telomeres Pathway
    • Lovejoy CA, Li W, Reisenweber S, Thongthip S, Bruno J, et al. (2012) Loss of ATRX, Genome Instability, and an Altered DNA Damage Response Are Hallmarks of the Alternative Lengthening of Telomeres Pathway. PLoS Genet 8: e1002772.
    • (2012) PLoS Genet , vol.8
    • Lovejoy, C.A.1    Li, W.2    Reisenweber, S.3    Thongthip, S.4    Bruno, J.5
  • 21
    • 0032555480 scopus 로고    scopus 로고
    • Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95
    • DOI 10.1074/jbc.273.34.21447
    • Trujillo KM, Yuan SS, Lee EY, Sung P (1998) Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. J Biol Chem 273: 21447-21450. (Pubitemid 28405310)
    • (1998) Journal of Biological Chemistry , vol.273 , Issue.34 , pp. 21447-21450
    • Trujillo, K.M.1    Yuan, S.-S.F.2    Lee, E.Y.-H.P.3    Sung, P.4
  • 22
    • 4544339736 scopus 로고    scopus 로고
    • Replication protein A and the Mre11.Rad50.Nbs1 complex co-localize and interact at sites of stalled replication forks
    • DOI 10.1074/jbc.M404750200
    • Robison JG, Elliott J, Dixon K, Oakley GG (2004) Replication protein A and the Mre11.Rad50.Nbs1 complex co-localize and interact at sites of stalled replication forks. J Biol Chem 279: 34802-34810. (Pubitemid 39318113)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.33 , pp. 34802-34810
    • Robison, J.G.1    Elliott, J.2    Dixon, K.3    Oakley, G.G.4
  • 23
    • 69849097500 scopus 로고    scopus 로고
    • PARP is activated at stalled forks to mediate Mre11-dependent replication restart and recombination
    • Bryant HE, Petermann E, Schultz N, Jemth AS, Loseva O, et al. (2009) PARP is activated at stalled forks to mediate Mre11-dependent replication restart and recombination. EMBO J 28: 2601-2615.
    • (2009) EMBO J , vol.28 , pp. 2601-2615
    • Bryant, H.E.1    Petermann, E.2    Schultz, N.3    Jemth, A.S.4    Loseva, O.5
  • 24
    • 84877115679 scopus 로고    scopus 로고
    • Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span
    • Watson LA, Solomon LA, Li JR, Jiang Y, Edwards M, et al. (2013) Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span. J Clin Invest 123: 2049-2063.
    • (2013) J Clin Invest , vol.123 , pp. 2049-2063
    • Watson, L.A.1    Solomon, L.A.2    Li, J.R.3    Jiang, Y.4    Edwards, M.5
  • 25
    • 84874763212 scopus 로고    scopus 로고
    • Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress
    • Leung JW, Ghosal G, Wang W, Shen X, Wang J, et al. (2013) Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. J Biol Chem 288: 6342-6350.
    • (2013) J Biol Chem , vol.288 , pp. 6342-6350
    • Leung, J.W.1    Ghosal, G.2    Wang, W.3    Shen, X.4    Wang, J.5
  • 26
    • 78649980436 scopus 로고    scopus 로고
    • Epigenetic instability due to defective replication of structured DNA
    • Sarkies P, Reams C, Simpson LJ, Sale JE (2010) Epigenetic instability due to defective replication of structured DNA. Mol Cell 40: 703-713.
    • (2010) Mol Cell , vol.40 , pp. 703-713
    • Sarkies, P.1    Reams, C.2    Simpson, L.J.3    Sale, J.E.4
  • 27
    • 79957556530 scopus 로고    scopus 로고
    • DNA replication through G-quadruplex motifs is promoted by the Saccharomyces cerevisiae Pif1 DNA helicase
    • Paeschke K, Capra JA, Zakian VA (2011) DNA replication through G-quadruplex motifs is promoted by the Saccharomyces cerevisiae Pif1 DNA helicase. Cell 145: 678-691.
    • (2011) Cell , vol.145 , pp. 678-691
    • Paeschke, K.1    Capra, J.A.2    Zakian, V.A.3
  • 28
    • 84857818879 scopus 로고    scopus 로고
    • FANCJ coordinates two pathways that maintain epigenetic stability at G-quadruplex DNA
    • Sarkies P, Murat P, Phillips LG, Patel KJ, Balasubramanian S, et al. (2012) FANCJ coordinates two pathways that maintain epigenetic stability at G-quadruplex DNA. Nucleic Acids Res 40: 1485-1498.
    • (2012) Nucleic Acids Res , vol.40 , pp. 1485-1498
    • Sarkies, P.1    Murat, P.2    Phillips, L.G.3    Patel, K.J.4    Balasubramanian, S.5
  • 29
    • 77951133257 scopus 로고    scopus 로고
    • Alternative lengthening of telomeres: Models, mechanisms and implications
    • Cesare AJ, Reddel RR (2010) Alternative lengthening of telomeres: models, mechanisms and implications. Nat Rev Genet 11: 319-330.
    • (2010) Nat Rev Genet , vol.11 , pp. 319-330
    • Cesare, A.J.1    Reddel, R.R.2
  • 30
    • 0342561644 scopus 로고    scopus 로고
    • Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres
    • DOI 10.1038/77139
    • Zhu XD, Kuster B, Mann M, Petrini JH, de Lange T (2000) Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. Nat Genet 25: 347-352. (Pubitemid 30437327)
    • (2000) Nature Genetics , vol.25 , Issue.3 , pp. 347-352
    • Zhu, X.-D.1    Kuster, B.2    Mann, M.3    Petrini, J.H.J.4    De Lange, T.5
  • 31
    • 33750801681 scopus 로고    scopus 로고
    • The DNA Damage Machinery and Homologous Recombination Pathway Act Consecutively to Protect Human Telomeres
    • DOI 10.1016/j.cell.2006.09.034, PII S0092867406012943
    • Verdun RE, Karlseder J (2006) The DNA damage machinery and homologous recombination pathway act consecutively to protect human telomeres. Cell 127: 709-720. (Pubitemid 44716251)
    • (2006) Cell , vol.127 , Issue.4 , pp. 709-720
    • Verdun, R.E.1    Karlseder, J.2
  • 32
    • 24044481977 scopus 로고    scopus 로고
    • Saccharomyces cerevisiae Mre11 is a high-affinity G4 DNA-binding protein and a G-rich DNA-specific endonuclease: Implications for replication of telomeric DNA
    • DOI 10.1093/nar/gki777
    • Ghosal G, Muniyappa K (2005) Saccharomyces cerevisiae Mre11 is a high-affinity G4 DNA-binding protein and a G-rich DNA-specific endonuclease: implications for replication of telomeric DNA. Nucleic Acids Res 33: 4692-4703. (Pubitemid 41418871)
    • (2005) Nucleic Acids Research , vol.33 , Issue.15 , pp. 4692-4703
    • Ghosal, G.1    Muniyappa, K.2
  • 33
    • 15044357804 scopus 로고    scopus 로고
    • Suppression of alternative lengthening of telomeres by Sp100-mediated sequestration of the MRE11/RAD50/NBS1 complex
    • DOI 10.1128/MCB.25.7.2708-2721.2005
    • Jiang WQ, Zhong ZH, Henson JD, Neumann AA, Chang AC, et al. (2005) Suppression of alternative lengthening of telomeres by Sp100-mediated sequestration of the MRE11/RAD50/NBS1 complex. Mol Cell Biol 25: 2708-2721. (Pubitemid 40381634)
    • (2005) Molecular and Cellular Biology , vol.25 , Issue.7 , pp. 2708-2721
    • Jiang, W.-Q.1    Zhong, Z.-H.2    Henson, J.D.3    Neumann, A.A.4    Chang, A.C.-M.5    Reddel, R.R.6
  • 34
    • 35748968799 scopus 로고    scopus 로고
    • Disruption of telomere maintenance by depletion of the MRE11/RAD50/NBS1 complex in cells that use alternative lengthening of telomeres
    • DOI 10.1074/jbc.M701413200
    • Zhong ZH, Jiang WQ, Cesare AJ, Neumann AA, Wadhwa R, et al. (2007) Disruption of telomere maintenance by depletion of the MRE11/RAD50/NBS1 complex in cells that use alternative lengthening of telomeres. J Biol Chem 282: 29314-29322. (Pubitemid 350043331)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.40 , pp. 29314-29322
    • Zhong, Z.-H.1    Jiang, W.-Q.2    Cesare, A.J.3    Neumann, A.A.4    Wadhwa, R.5    Reddel, R.R.6
  • 35
    • 27944496124 scopus 로고    scopus 로고
    • Functional human telomeres are recognized as DNA damage in G2 of the cell cycle
    • DOI 10.1016/j.molcel.2005.09.024, PII S109727650501645X
    • Verdun RE, Crabbe L, Haggblom C, Karlseder J (2005) Functional human telomeres are recognized as DNA damage in G2 of the cell cycle. Mol Cell 20: 551-561. (Pubitemid 41668640)
    • (2005) Molecular Cell , vol.20 , Issue.4 , pp. 551-561
    • Verdun, R.E.1    Crabbe, L.2    Haggblom, C.3    Karlseder, J.4
  • 36
    • 0037182814 scopus 로고    scopus 로고
    • A modified neutral comet assay: Elimination of lysis at high temperature and validation of the assay with anti-single-stranded DNA antibody
    • DOI 10.1016/S1383-5718(02)00070-0, PII S1383571802000700
    • Wojewodzka M, Buraczewska I, Kruszewski M (2002) A modified neutral comet assay: elimination of lysis at high temperature and validation of the assay with anti-single-stranded DNA antibody. Mutat Res 518: 9-20. (Pubitemid 34626841)
    • (2002) Mutation Research - Genetic Toxicology and Environmental Mutagenesis , vol.518 , Issue.1 , pp. 9-20
    • Wojewodzka, M.1    Buraczewska, I.2    Kruszewski, M.3
  • 37
    • 0025279931 scopus 로고
    • Telomeres shorten during ageing of human fibroblasts
    • Harley CB, Futcher AB, Greider CW (1990) Telomeres shorten during ageing of human fibroblasts. Nature 345: 458-460.
    • (1990) Nature , vol.345 , pp. 458-460
    • Harley, C.B.1    Futcher, A.B.2    Greider, C.W.3
  • 38
    • 13044252871 scopus 로고    scopus 로고
    • Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
    • McDowell TL, Gibbons RJ, Sutherland H, O'Rourke DM, Bickmore WA, et al. (1999) Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A 96: 13983-13988.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 13983-13988
    • McDowell, T.L.1    Gibbons, R.J.2    Sutherland, H.3    O'Rourke, D.M.4    Bickmore, W.A.5
  • 39
    • 33845764296 scopus 로고    scopus 로고
    • A guided tour into subcellular colocalization analysis in light microscopy
    • DOI 10.1111/j.1365-2818.2006.01706.x
    • Bolte S, Cordelieres FP (2006) A guided tour into subcellular colocalization analysis in light microscopy. J Microsc 224: 213-232. (Pubitemid 46010930)
    • (2006) Journal of Microscopy , vol.224 , Issue.3 , pp. 213-232
    • Bolte, S.1    Cordelieres, F.P.2
  • 40
    • 33745216451 scopus 로고    scopus 로고
    • Analysis of the DNA unwinding activity of RecQ family helicases
    • Bachrati CZ, Hickson ID (2006) Analysis of the DNA unwinding activity of RecQ family helicases. Methods Enzymol 409: 86-100.
    • (2006) Methods Enzymol , vol.409 , pp. 86-100
    • Bachrati, C.Z.1    Hickson, I.D.2


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