메뉴 건너뛰기




Volumn 3, Issue , 2012, Pages

Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients

Author keywords

Expression of TRF1 and TRF2; Primary FA cells; Telomere dysfunction

Indexed keywords

BUTADIENE DIEPOXIDE; FANCONI ANEMIA GROUP D2 PROTEIN; GAMMA HISTONE H2AX; HISTONE H2AX; TELOMERIC REPEAT BINDING FACTOR 1; TELOMERIC REPEAT BINDING FACTOR 2; UNCLASSIFIED DRUG;

EID: 84870354208     PISSN: None     EISSN: 20419414     Source Type: Journal    
DOI: 10.1186/2041-9414-3-6     Document Type: Article
Times cited : (26)

References (53)
  • 1
    • 0022402513 scopus 로고
    • Identification of a specific telomere terminal transferase activity in tetrahymena extracts
    • Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in tetrahymena extracts. Cell 1985, 43:405-413.
    • (1985) Cell , vol.43 , pp. 405-413
    • Greider, C.W.1    Blackburn, E.H.2
  • 2
    • 24944460598 scopus 로고    scopus 로고
    • Shelterin: the protein complex that shapes and safeguards human telomeres
    • de Lange T. Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 2005, 19:2100-2110.
    • (2005) Genes Dev , vol.19 , pp. 2100-2110
    • de Lange, T.1
  • 4
    • 0032489012 scopus 로고    scopus 로고
    • TRF2 protects human telomeres from end-to-end fusions
    • van Steensel B, Smogorzewska A, de Lange T. TRF2 protects human telomeres from end-to-end fusions. Cell 1998, 92:401-413.
    • (1998) Cell , vol.92 , pp. 401-413
    • van Steensel, B.1    Smogorzewska, A.2    de Lange, T.3
  • 6
    • 22144490491 scopus 로고    scopus 로고
    • DNA processing is not required for ATM-mediated telomere damage response after TRF2 deletion
    • Celli GB, de Lange T. DNA processing is not required for ATM-mediated telomere damage response after TRF2 deletion. Nat Cell Biol 2005, 7:712-718.
    • (2005) Nat Cell Biol , vol.7 , pp. 712-718
    • Celli, G.B.1    de Lange, T.2
  • 7
    • 33746644257 scopus 로고    scopus 로고
    • Ku70 stimulates fusion of dysfunctional telomeres yet protects chromosome ends from homologous recombination
    • Celli GB, Denchi EL, de Lange T. Ku70 stimulates fusion of dysfunctional telomeres yet protects chromosome ends from homologous recombination. Nat Cell Biol 2006, 8:885-890.
    • (2006) Nat Cell Biol , vol.8 , pp. 885-890
    • Celli, G.B.1    Denchi, E.L.2    de Lange, T.3
  • 8
    • 58249109501 scopus 로고    scopus 로고
    • Functional dissection of human and mouse POT1 proteins
    • Palm W, Hockemeyer D, Kibe T, de Lange T. Functional dissection of human and mouse POT1 proteins. Mol Cell Biol 2009, 29:471-482.
    • (2009) Mol Cell Biol , vol.29 , pp. 471-482
    • Palm, W.1    Hockemeyer, D.2    Kibe, T.3    de Lange, T.4
  • 9
    • 3142534591 scopus 로고    scopus 로고
    • Initiating cellular stress responses
    • Bakkenist CJ, Kastan MB. Initiating cellular stress responses. Cell 2004, 118:9-17.
    • (2004) Cell , vol.118 , pp. 9-17
    • Bakkenist, C.J.1    Kastan, M.B.2
  • 11
    • 0042420304 scopus 로고    scopus 로고
    • DNA damage foci at dysfunctional telomeres
    • Takai H, Smogorzewska A, de Lange T. DNA damage foci at dysfunctional telomeres. Curr Biol 2003, 13:1549-1556.
    • (2003) Curr Biol , vol.13 , pp. 1549-1556
    • Takai, H.1    Smogorzewska, A.2    de Lange, T.3
  • 12
    • 22944488871 scopus 로고    scopus 로고
    • Telomeres and human disease: ageing, cancer and beyond
    • Blasco MA. Telomeres and human disease: ageing, cancer and beyond. Nat Rev Genet 2005, 6:611-622.
    • (2005) Nat Rev Genet , vol.6 , pp. 611-622
    • Blasco, M.A.1
  • 15
    • 33744481750 scopus 로고    scopus 로고
    • Molecular pathogenesis of fanconi anemia: recent progress
    • Taniguchi T, D'Andrea AD. Molecular pathogenesis of fanconi anemia: recent progress. Blood 2006, 107:4223-4233.
    • (2006) Blood , vol.107 , pp. 4223-4233
    • Taniguchi, T.1    D'Andrea, A.D.2
  • 16
    • 77956014949 scopus 로고    scopus 로고
    • Inherited bone marrow failure syndromes
    • Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. Haematologica 2010, 95:1236-1240.
    • (2010) Haematologica , vol.95 , pp. 1236-1240
    • Dokal, I.1    Vulliamy, T.2
  • 19
    • 34247576595 scopus 로고    scopus 로고
    • Hypomorphic mutations in the gene encoding a key fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
    • Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, et al. Hypomorphic mutations in the gene encoding a key fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 2007, 80:895-910.
    • (2007) Am J Hum Genet , vol.80 , pp. 895-910
    • Kalb, R.1    Neveling, K.2    Hoehn, H.3    Schneider, H.4    Linka, Y.5    Batish, S.D.6    Hunt, C.7    Berwick, M.8    Callen, E.9    Surralles, J.10
  • 21
    • 0035812845 scopus 로고    scopus 로고
    • The shortest telomere, not average telomere length, is critical for cell viability and chromosome stability
    • Hemann MT, Strong MA, Hao L-Y, Greider CW. The shortest telomere, not average telomere length, is critical for cell viability and chromosome stability. Cell 2001, 107:67-77.
    • (2001) Cell , vol.107 , pp. 67-77
    • Hemann, M.T.1    Strong, M.A.2    Hao, L.-Y.3    Greider, C.W.4
  • 22
    • 33846517601 scopus 로고    scopus 로고
    • Telomerase abrogation dramatically accelerates TRF2-induced epithelial carcinogenesis
    • Blanco R, Munoz P, Flores JM, Klatt P, Blasco MA. Telomerase abrogation dramatically accelerates TRF2-induced epithelial carcinogenesis. Genes Dev 2007, 21:206-220.
    • (2007) Genes Dev , vol.21 , pp. 206-220
    • Blanco, R.1    Munoz, P.2    Flores, J.M.3    Klatt, P.4    Blasco, M.A.5
  • 23
    • 53049091444 scopus 로고    scopus 로고
    • Distinct roles of TRF1 in the regulation of telomere structure and lengthening
    • Okamoto K, Iwano T, Tachibana M, Shinkai Y. Distinct roles of TRF1 in the regulation of telomere structure and lengthening. J Biol Chem 2008, 283:23981-23988.
    • (2008) J Biol Chem , vol.283 , pp. 23981-23988
    • Okamoto, K.1    Iwano, T.2    Tachibana, M.3    Shinkai, Y.4
  • 24
    • 0033393088 scopus 로고    scopus 로고
    • Double telomeric signals on single chromatids revealed by fish and prins
    • Philippe C, Coullin P, Bernheim A. Double telomeric signals on single chromatids revealed by fish and prins. Ann Genet 1999, 42:202-209.
    • (1999) Ann Genet , vol.42 , pp. 202-209
    • Philippe, C.1    Coullin, P.2    Bernheim, A.3
  • 26
    • 33745652501 scopus 로고    scopus 로고
    • Apollo, an artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase
    • van Overbeek M, de Lange T. Apollo, an artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase. Curr Biol 2006, 16:1295-1302.
    • (2006) Curr Biol , vol.16 , pp. 1295-1302
    • van Overbeek, M.1    de Lange, T.2
  • 27
    • 0031027618 scopus 로고    scopus 로고
    • Control of telomere length by the human telomeric protein TRF1
    • van Steensel B, de Lange T. Control of telomere length by the human telomeric protein TRF1. Nature 1997, 385:740-743.
    • (1997) Nature , vol.385 , pp. 740-743
    • van Steensel, B.1    de Lange, T.2
  • 29
    • 0035932397 scopus 로고    scopus 로고
    • Telomeric protein Pin2/TRF1 induces mitotic entry and apoptosis in cells with short telomeres and is down-regulated in human breast tumors
    • Kishi S, Wulf G, Nakamura M, Lu KP. Telomeric protein Pin2/TRF1 induces mitotic entry and apoptosis in cells with short telomeres and is down-regulated in human breast tumors. Oncogene 2001, 20:1497-1508.
    • (2001) Oncogene , vol.20 , pp. 1497-1508
    • Kishi, S.1    Wulf, G.2    Nakamura, M.3    Lu, K.P.4
  • 31
    • 84864882450 scopus 로고    scopus 로고
    • HMGB1 gene knockout in mouse embryonic fibroblasts results in reduced telomerase activity and telomere dysfunction
    • Polanska E, Dobsakova Z, Dvorackova M, Fajkus J, Stros M. HMGB1 gene knockout in mouse embryonic fibroblasts results in reduced telomerase activity and telomere dysfunction. Chromosoma 2012, 121:419-431.
    • (2012) Chromosoma , vol.121 , pp. 419-431
    • Polanska, E.1    Dobsakova, Z.2    Dvorackova, M.3    Fajkus, J.4    Stros, M.5
  • 32
    • 52949098309 scopus 로고    scopus 로고
    • Human telomere structure and biology
    • Riethman H. Human telomere structure and biology. Annu Rev Genomics Hum Genet 2008, 9:1-19.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 1-19
    • Riethman, H.1
  • 33
    • 38849111756 scopus 로고    scopus 로고
    • Developmentally regulated transcription of mammalian telomeres by DNA-dependent RNA polymerase II
    • Schoeftner S, Blasco MA. Developmentally regulated transcription of mammalian telomeres by DNA-dependent RNA polymerase II. Nat Cell Biol 2008, 10:228-236.
    • (2008) Nat Cell Biol , vol.10 , pp. 228-236
    • Schoeftner, S.1    Blasco, M.A.2
  • 36
    • 0346103784 scopus 로고    scopus 로고
    • Is there a link between telomere maintenance and radio sensitivity?
    • Slijepcevic P. Is there a link between telomere maintenance and radio sensitivity?. Radiat Res 2004, 161:82-86.
    • (2004) Radiat Res , vol.161 , pp. 82-86
    • Slijepcevic, P.1
  • 37
    • 0030854142 scopus 로고    scopus 로고
    • Elevated homologous recombination activity in fanconi anemia fibroblasts
    • Thyagarajan B, Campbell C. Elevated homologous recombination activity in fanconi anemia fibroblasts. J Biol Chem 1997, 272:23328-23333.
    • (1997) J Biol Chem , vol.272 , pp. 23328-23333
    • Thyagarajan, B.1    Campbell, C.2
  • 38
    • 0028237305 scopus 로고
    • Expression of a site-specific endonuclease stimulates homologous recombination in mammalian cells
    • Rouet P, Smih F, Jasin M. Expression of a site-specific endonuclease stimulates homologous recombination in mammalian cells. Proc Natl Acad Sci USA 1994, 91:6064-6068.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6064-6068
    • Rouet, P.1    Smih, F.2    Jasin, M.3
  • 42
    • 84984775429 scopus 로고    scopus 로고
    • Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2
    • Broccoli D, Smogorzewska A, Chong L, de Lange T. Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2. Nat Genet 1997, 17:231-235.
    • (1997) Nat Genet , vol.17 , pp. 231-235
    • Broccoli, D.1    Smogorzewska, A.2    Chong, L.3    de Lange, T.4
  • 43
    • 59249101446 scopus 로고    scopus 로고
    • Short telomeres initiate telomere recombination in primary and tumor cells
    • Morrish TA, Greider CW. Short telomeres initiate telomere recombination in primary and tumor cells. PLoS Genet 2009, 5:e1000357.
    • (2009) PLoS Genet , vol.5
    • Morrish, T.A.1    Greider, C.W.2
  • 46
    • 48849111029 scopus 로고    scopus 로고
    • Diagnosis of fanconi anemia by diepoxybutane analysis
    • Hoboken, NJ: ohn Wiley & Sons, Inc, Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR
    • Auerbach AD. Diagnosis of fanconi anemia by diepoxybutane analysis. Current Protocols in Human Genetics 2003, 8.7.1-8.7.15. Hoboken, NJ: ohn Wiley & Sons, Inc, Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR.
    • (2003) Current Protocols in Human Genetics
    • Auerbach, A.D.1
  • 47
    • 34247147609 scopus 로고    scopus 로고
    • A comprehensive strategy for the subtyping of patients with fanconi anaemia: conclusions from the spanish fanconi anemia research network
    • Casado AJ, Callen E, Jacome A, Rio P, Castella M, Lobitz S, Ferro T, Munoz A, Sevilla J, Cantalejo A, et al. A comprehensive strategy for the subtyping of patients with fanconi anaemia: conclusions from the spanish fanconi anemia research network. J Med Genet 2007, 44:241-249.
    • (2007) J Med Genet , vol.44 , pp. 241-249
    • Casado, A.J.1    Callen, E.2    Jacome, A.3    Rio, P.4    Castella, M.5    Lobitz, S.6    Ferro, T.7    Munoz, A.8    Sevilla, J.9    Cantalejo, A.10
  • 49
    • 0035706620 scopus 로고    scopus 로고
    • Telomere length measurement by Q-FISH
    • Slijepcevic P. Telomere length measurement by Q-FISH. Methods Cell Sci 2001, 23:17-22.
    • (2001) Methods Cell Sci , vol.23 , pp. 17-22
    • Slijepcevic, P.1
  • 50
    • 0016328318 scopus 로고
    • New Giemsa method for the differential staining of sister chromatids
    • Perry P, Wolff S. New Giemsa method for the differential staining of sister chromatids. Nature 1974, 251:156-158.
    • (1974) Nature , vol.251 , pp. 156-158
    • Perry, P.1    Wolff, S.2
  • 51
    • 0029939172 scopus 로고    scopus 로고
    • CO-FISH reveals inversions associated with isochromosome formation
    • Bailey SM, Goodwin EH, Meyne J, Cornforth MN. CO-FISH reveals inversions associated with isochromosome formation. Mutagenesis 1996, 11:139-144.
    • (1996) Mutagenesis , vol.11 , pp. 139-144
    • Bailey, S.M.1    Goodwin, E.H.2    Meyne, J.3    Cornforth, M.N.4
  • 52
    • 33750369696 scopus 로고    scopus 로고
    • Expression of telomere-associated genes as prognostic markers for overall survival in patients with non-small cell lung cancer
    • Lin X, Gu J, Lu C, Spitz MR, Wu X. Expression of telomere-associated genes as prognostic markers for overall survival in patients with non-small cell lung cancer. Clin Cancer Res 2006, 12:5720-5725.
    • (2006) Clin Cancer Res , vol.12 , pp. 5720-5725
    • Lin, X.1    Gu, J.2    Lu, C.3    Spitz, M.R.4    Wu, X.5
  • 53
    • 0036581160 scopus 로고    scopus 로고
    • Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR
    • Pfaffl MW, Horgan GW, Dempfle L. Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR. Nucleic Acids Res 2002, 30:e36.
    • (2002) Nucleic Acids Res , vol.30
    • Pfaffl, M.W.1    Horgan, G.W.2    Dempfle, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.