메뉴 건너뛰기




Volumn 724, Issue 1-2, 2011, Pages 46-51

Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams-Beuren syndrome patients

Author keywords

Comet assay; Genetic disorder; Genome instability; Lymphocytes; Microdeletion

Indexed keywords

DNA; HYDROGEN PEROXIDE;

EID: 79961011899     PISSN: 13835718     EISSN: 18793592     Source Type: Journal    
DOI: 10.1016/j.mrgentox.2011.05.009     Document Type: Article
Times cited : (9)

References (40)
  • 1
    • 63149168931 scopus 로고    scopus 로고
    • Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA
    • Yeshaya J., Amir I., Rimon A., Freedman J., Shohat M., Avivi L. Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA. Mol. Cytogenet. 2009, 2:11. http://www.molecularcytogenetics.org/content/2/1/11.
    • (2009) Mol. Cytogenet. , vol.2 , pp. 11
    • Yeshaya, J.1    Amir, I.2    Rimon, A.3    Freedman, J.4    Shohat, M.5    Avivi, L.6
  • 2
    • 0141960163 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
    • Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum. Mol. Genet. 2003, 12:229-237.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 229-237
    • Tassabehji, M.1
  • 3
    • 43049150400 scopus 로고    scopus 로고
    • Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
    • Pober B.R., Johnson M., Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J. Clin. Invest. 2008, 118:1606-1615.
    • (2008) J. Clin. Invest. , vol.118 , pp. 1606-1615
    • Pober, B.R.1    Johnson, M.2    Urban, Z.3
  • 4
    • 44049103092 scopus 로고    scopus 로고
    • Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype
    • Martens M.A., Wilson S.J., Reutens D.C. Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J. Child Psychol. Psychiatry 2008, 49:576-608.
    • (2008) J. Child Psychol. Psychiatry , vol.49 , pp. 576-608
    • Martens, M.A.1    Wilson, S.J.2    Reutens, D.C.3
  • 5
    • 63449107365 scopus 로고    scopus 로고
    • The genomic basis of the Williams-Beuren syndrome
    • Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell. Mol. Life Sci. 2009, 66:1178-1197.
    • (2009) Cell. Mol. Life Sci. , vol.66 , pp. 1178-1197
    • Schubert, C.1
  • 7
    • 0032837598 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: genes and mechanisms
    • Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum. Mol. Genet. 1999, 8:1947-1954.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1947-1954
    • Francke, U.1
  • 8
    • 46049096956 scopus 로고    scopus 로고
    • Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders
    • O'Driscoll M. Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders. Curr. Genomics 2008, 9:137-146.
    • (2008) Curr. Genomics , vol.9 , pp. 137-146
    • O'Driscoll, M.1
  • 10
    • 36348975713 scopus 로고    scopus 로고
    • The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
    • C
    • Shaffer L.G., Bejjani B.A., Torchia B., Kirkpatrick S., Coppinger J., Ballif B.C. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am. J. Med. Genet. C: Semin. Med. Genet. 2007, 145C:335-345.
    • (2007) Am. J. Med. Genet. C: Semin. Med. Genet. , vol.145 , pp. 335-345
    • Shaffer, L.G.1    Bejjani, B.A.2    Torchia, B.3    Kirkpatrick, S.4    Coppinger, J.5    Ballif, B.C.6
  • 14
    • 51149102710 scopus 로고    scopus 로고
    • Trypan blue exclusion test of cell viability
    • Appendix 3:Appendix 3B
    • Strober W. Trypan blue exclusion test of cell viability. Curr. Protoc. Immunol. 2001, Appendix 3:Appendix 3B.
    • (2001) Curr. Protoc. Immunol.
    • Strober, W.1
  • 16
    • 8544283254 scopus 로고    scopus 로고
    • The comet assay for DNA damage and repair: principles, applications, and limitations
    • Collins A.R. The comet assay for DNA damage and repair: principles, applications, and limitations. Mol. Biotechnol. 2004, 26:249-261.
    • (2004) Mol. Biotechnol. , vol.26 , pp. 249-261
    • Collins, A.R.1
  • 17
    • 0028004117 scopus 로고
    • In vitro repair of oxidative and ultraviolet-induced DNA damage in supercoiled nucleoid DNA by human cell extract
    • Collins A.R., Fleming I.M., Gedik C.M. In vitro repair of oxidative and ultraviolet-induced DNA damage in supercoiled nucleoid DNA by human cell extract. Biochim. Biophys. Acta 1994, 1219:724-727.
    • (1994) Biochim. Biophys. Acta , vol.1219 , pp. 724-727
    • Collins, A.R.1    Fleming, I.M.2    Gedik, C.M.3
  • 18
    • 0028305534 scopus 로고
    • The effect of various antioxidants and other modifying agents on oxygen-radical-generated DNA damage in human lymphocytes in the COMET assay
    • Anderson D., Yu T.W., Phillips B.J., Schmezer P. The effect of various antioxidants and other modifying agents on oxygen-radical-generated DNA damage in human lymphocytes in the COMET assay. Mutat. Res. 1994, 307:261-271.
    • (1994) Mutat. Res. , vol.307 , pp. 261-271
    • Anderson, D.1    Yu, T.W.2    Phillips, B.J.3    Schmezer, P.4
  • 20
    • 34248143695 scopus 로고    scopus 로고
    • FISH on chromosome preparations of peripheral blood - protocol
    • Springer-Verlag, Berlin, Heidelberg, B. Rautenstraus, T. Liehr (Eds.)
    • Liehr T., Claussen U. FISH on chromosome preparations of peripheral blood - protocol. FISH Technology 2002, 73-81. Springer-Verlag, Berlin, Heidelberg. B. Rautenstraus, T. Liehr (Eds.).
    • (2002) FISH Technology , pp. 73-81
    • Liehr, T.1    Claussen, U.2
  • 21
    • 79960984265 scopus 로고    scopus 로고
    • Cytogenetic analysis of individuals migrated from Gomel region to Minsk
    • (in Russian)
    • Polityko A.D., Egorova T.M. Cytogenetic analysis of individuals migrated from Gomel region to Minsk. Int. J. Rad. Med. 2001, 3:274. (in Russian).
    • (2001) Int. J. Rad. Med. , vol.3 , pp. 274
    • Polityko, A.D.1    Egorova, T.M.2
  • 22
    • 79960990465 scopus 로고    scopus 로고
    • Cytogenetic monitoring database: the assessment of the tendencies and dynamics of mutagenesis in children
    • Medizinische Genetik 3, Leipzig, Germany
    • Polityko A.D., Egorova T.M., Pisarik I.V., Khurs O.M. Cytogenetic monitoring database: the assessment of the tendencies and dynamics of mutagenesis in children. Abs. of 14th Meeting of the German Society of Human Genetics 2002, 290. Medizinische Genetik 3, Leipzig, Germany.
    • (2002) Abs. of 14th Meeting of the German Society of Human Genetics , pp. 290
    • Polityko, A.D.1    Egorova, T.M.2    Pisarik, I.V.3    Khurs, O.M.4
  • 23
    • 0028437934 scopus 로고
    • The cytogenetic monitoring of the victims of the accident at the Chernobyl Atomic Electric Power Station
    • (in Russian)
    • Pilinskaia M.A., Shemetun A.M., Dybskǐ S.S., Red'ko D.V., Vaniurikhina E.A., Dybskaia E.B. The cytogenetic monitoring of the victims of the accident at the Chernobyl Atomic Electric Power Station. Tsitol. Genet. 1994, 28:18-25. (in Russian).
    • (1994) Tsitol. Genet. , vol.28 , pp. 18-25
    • Pilinskaia, M.A.1    Shemetun, A.M.2    Dybskǐ, S.S.3    Red'ko, D.V.4    Vaniurikhina, E.A.5    Dybskaia, E.B.6
  • 24
    • 18744426660 scopus 로고
    • The cytogenetic examination of children in the Saint Petersburg region who suffered as a result of the accident at the Chernobyl Atomic Electric Power Station. The frequency of unstable chromosome aberrations in the peripheral blood lymphocytes
    • (in Russian)
    • Vorobtsova I.E., Vorob'eva M.V., Bogomazova A.N., Piukkenen AIu, Arkhangel'skaia T.B. The cytogenetic examination of children in the Saint Petersburg region who suffered as a result of the accident at the Chernobyl Atomic Electric Power Station. The frequency of unstable chromosome aberrations in the peripheral blood lymphocytes. Radiat. Biol. Radioecol. 1995, 35:630-635. (in Russian).
    • (1995) Radiat. Biol. Radioecol. , vol.35 , pp. 630-635
    • Vorobtsova, I.E.1    Vorob'eva, M.V.2    Bogomazova, A.N.3    Piukkenen, A.4    Arkhangel'skaia, T.B.5
  • 25
    • 0028242630 scopus 로고
    • Cancer risk in humans predicted by increased levels of chromosomal aberrations in lymphocytes: Nordic study group on the health risk of chromosome damage
    • Hagmar L., Brøgger A., Hansteen I.L., Heim S., Högstedt B., Knudsen L., Lambert B., Linnainmaa K., Mitelman F., Nordenson I. Cancer risk in humans predicted by increased levels of chromosomal aberrations in lymphocytes: Nordic study group on the health risk of chromosome damage. Cancer Res. 1994, 54:2919-2922.
    • (1994) Cancer Res. , vol.54 , pp. 2919-2922
    • Hagmar, L.1    Brøgger, A.2    Hansteen, I.L.3    Heim, S.4    Högstedt, B.5    Knudsen, L.6    Lambert, B.7    Linnainmaa, K.8    Mitelman, F.9    Nordenson, I.10
  • 30
    • 0037022534 scopus 로고    scopus 로고
    • Oxygen metabolism causes chromosome breaks and is associated with the neuronal apoptosis observed in DNA double-strand break repair mutants
    • Karanjawala Z.E., Murphy N., Hinton D.R., Hsieh C.L., Lieber M.R. Oxygen metabolism causes chromosome breaks and is associated with the neuronal apoptosis observed in DNA double-strand break repair mutants. Curr. Biol. 2002, 12:397-402.
    • (2002) Curr. Biol. , vol.12 , pp. 397-402
    • Karanjawala, Z.E.1    Murphy, N.2    Hinton, D.R.3    Hsieh, C.L.4    Lieber, M.R.5
  • 31
    • 0032408489 scopus 로고    scopus 로고
    • Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23
    • Peoples R.J., Cisco M.J., Kaplan P., Francke U. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet. Cell Genet. 1998, 82:238-246.
    • (1998) Cytogenet. Cell Genet. , vol.82 , pp. 238-246
    • Peoples, R.J.1    Cisco, M.J.2    Kaplan, P.3    Francke, U.4
  • 32
    • 0032400961 scopus 로고    scopus 로고
    • A novel human gene, WSTF, is deleted in Williams syndrome
    • Lu X., Meng X., Morris C.A., Keating M.T. A novel human gene, WSTF, is deleted in Williams syndrome. Genomics 1998, 54:241-249.
    • (1998) Genomics , vol.54 , pp. 241-249
    • Lu, X.1    Meng, X.2    Morris, C.A.3    Keating, M.T.4
  • 33
    • 63849187827 scopus 로고    scopus 로고
    • Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions
    • Cook P.J., Ju B.G., Telese F., Wang X., Glass C.K., Rosenfeld M.G. Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature 2009, 458:591-596.
    • (2009) Nature , vol.458 , pp. 591-596
    • Cook, P.J.1    Ju, B.G.2    Telese, F.3    Wang, X.4    Glass, C.K.5    Rosenfeld, M.G.6
  • 35
    • 0032489391 scopus 로고    scopus 로고
    • Reconstitution of recombinant human replication factor C (RFC) and identification of an RFC subcomplex possessing DNA-dependent ATPase activity
    • Ellison V., Stillman B. Reconstitution of recombinant human replication factor C (RFC) and identification of an RFC subcomplex possessing DNA-dependent ATPase activity. J. Biol. Chem. 1998, 273:5979-5987.
    • (1998) J. Biol. Chem. , vol.273 , pp. 5979-5987
    • Ellison, V.1    Stillman, B.2
  • 36
    • 0345564858 scopus 로고    scopus 로고
    • Replication protein A-mediated recruitment and activation of Rad17 complexes
    • Zou L., Liu D., Elledge S.J. Replication protein A-mediated recruitment and activation of Rad17 complexes. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:13827-13832.
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 13827-13832
    • Zou, L.1    Liu, D.2    Elledge, S.J.3
  • 37
    • 34347258929 scopus 로고    scopus 로고
    • Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
    • O'Driscoll M., Dobyns W.B., van Hagen J.M., Jeggo P.A. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am. J. Hum. Genet. 2007, 81:77-86.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 77-86
    • O'Driscoll, M.1    Dobyns, W.B.2    van Hagen, J.M.3    Jeggo, P.A.4
  • 38
    • 56649088073 scopus 로고    scopus 로고
    • Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair
    • Czornak K., Chughtai S., Chrzanowska K.H. Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair. J. Appl. Genet. 2008, 49:383-396.
    • (2008) J. Appl. Genet. , vol.49 , pp. 383-396
    • Czornak, K.1    Chughtai, S.2    Chrzanowska, K.H.3
  • 39
    • 67349084662 scopus 로고    scopus 로고
    • Histone H2A.X Tyr142 phosphorylation: a novel switch for apoptosis?
    • Stucki M. Histone H2A.X Tyr142 phosphorylation: a novel switch for apoptosis?. DNA Repair (Amst) 2009, 8:873-876.
    • (2009) DNA Repair (Amst) , vol.8 , pp. 873-876
    • Stucki, M.1
  • 40
    • 79952342142 scopus 로고    scopus 로고
    • ATM-dependent cellular response to DNA double strand breaks plays a pivotal role in the maintenance of the integrity of the genome
    • Suzuki K., Yamauchi M., Yamashita S. ATM-dependent cellular response to DNA double strand breaks plays a pivotal role in the maintenance of the integrity of the genome. Radiat. Prot. Dosimetry 2011, 143:279-283.
    • (2011) Radiat. Prot. Dosimetry , vol.143 , pp. 279-283
    • Suzuki, K.1    Yamauchi, M.2    Yamashita, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.