DNA Amplification by Breakage/Fusion/Bridge Cycles Initiated by Spontaneous Telomere Loss in a Human Cancer Cell Line

Tisty, 1997, Genomic instability and its role in neoplasia, Cmr Top Alicrobiol Immunol, 221, 37 Nowell, 1976, The clonal evolution of tumor cell populations, Science, 194, 23, 10.1126/science.959840 Loeb, 1992, Mrrlator phenotype may be required for rnultistage carcinogenesis, Cancer Res, 51, 3075 Schwab, 1999, Oncogene amplification in solid tumors, Semin Cancer Biol, 9, 319, 10.1006/scbi.1999.0126 Brodeur, 1998, Gene amplification in human cancers: biological and clinical significance, 161 Brison, 1993, Gene amplification and Tumor progression, Biochem Biophys Acta, 1155, 25 Hahn, 1993, Molecular biology of double-minute chromosomes, Bioessays, 15, 477, 10.1002/bies.950150707 McClintock, 1941, The stability of broken ends of chromosomes in Zea mays, Genetics, 41, 234, 10.1093/genetics/26.2.234 Paa, 1993, Sister chromatid fusion initiates amplification of the dihydrofolate reductase gene in CFrinese hamster cells, Genes Dev, 7, 605, 10.1101/gad.7.4.605 Saudi, 1990, Distinc!ive chromosomal structures are formed very early in the amplification of CAD genes in Syrian hamster cells, Cell, 63, 1219, 10.1016/0092-8674(90)90417-D Toledo, 1993, The origin of chromosome rearrangements at early stages of Ah+PD2 gene amplification in Chinese hamster cells, Curr Bio, 13, 255, 10.1016/0960-9822(93)90175-N Coquelle, 1997, Expression of fragile sites triggers intrachmmosomal mammalian gene arnplirication and sets boundaries to early amplification, Ce11, 89, 215 McEachern, 2000, Telomeres and their control, Anew Rev Genet, 34, 331, 10.1146/annurev.genet.34.1.331 Blackburn, 2001, SSvitching and signaling at the telornere, Cell, 108, 661, 10.1016/S0092-8674(01)00492-5 deLange, 1995, Telomere dynamics and genuine instability in human cancer, 265 Haley, 1995, Telomeres and aging, 247 Bodnar, 1998, Extension of life-span by introduction of telomerase into normal human cells, Science, 279, 349, 10.1126/science.279.5349.349 Counter, 1992, Telornere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity, EMSOJ, 11, 1921 Murnane, 1994, Tclomerc dynamics in an immortal human cell line, EMBO J, 13, 4953, 10.1002/j.1460-2075.1994.tb06822.x Dunhram, 2000, Telomere maintenance by recombina8on in human cells, Nat Genet, 26, 447, 10.1038/82586 van Steensel, 1998, TRF2 protects hurnan telorneres from end-to-end iusions, Cell, 92, 40113, 10.1016/S0092-8674(00)80932-0 Hsu, 2000, Ku ants in a unique way at the mammalian telornere to prevent end joining, Genes Dev, 14, 2807, 10.1101/gad.844000 Bailey, 1999, DNA double-strand break repair proteins are required to cap the ends of mammalian chromosomes, Prce NaflAcad Sci USA, 96, 14899, 10.1073/pnas.96.26.14899 Gilley, 2001, DNA- PKcs is critical for falconers capping, Puts Nat Aced Set USA, 98, 15084, 10.1073/pnas.261574698 Goytisolo, 2001, The absence of the DNA-dependent protein kinase catalytic sutunit in mice resure in anaphase bridges and increased Telomeric fusions with natural aloniere length and G -strand overhang, Mol Cell Biol, 21, 3642, 10.1128/MCB.21.11.3642-3651.2001 Gisselsscn, 2001, Telomere dysfunm ion triggers extensive DNA fragmentation and evolution of complex chromosome abnormalities in human malignant tumors, Prow Natl Acted Sat USA, 98, 12683, 10.1073/pnas.211357798 Bryan, 1998, Telomere length dynamics in telomerase-positive immortal human cell populations, Exp Cell Res, 239, 370, 10.1006/excr.1997.3907 Schwartz, 2001, TP53-dependent chromosome instability is associated with transient reductions in telomere length in immortal Telomerase-positive cell lines, Genes Chromosomes Cancer, 30, 236, 10.1002/1098-2264(2000)9999:9999<::AID-GCC1085>3.0.CO;2-G Sprung, 1999, Telomere instability in a human cancer cell line, falutat Res, 429, 209 Lo, 2002, Chrornosonme usability as a result of double-strand breaks near telomeres in mouse embryonic stem cells, Mol Cell Biol, 22, 4836, 10.1128/MCB.22.13.4836-4850.2002 Yu, 1991, Developmentally programmed healing of chromosomes by telomerase in Tet,.ahgrnona, Coli, 67, 823 Diede, 1999, Telomerase-mediated telomere addition in viva requires DNA primase and DNA polymerase a and b, Cell, 99, 723, 10.1016/S0092-8674(00)81670-0 Varley, 2000, Characterization of terminal deletions at 7g32 and 22gl3.3 healed by de r:cvc telomere addition, Am J Hum Genet, 67, 610, 10.1086/303050 Wong, 1997, Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation, Art, J Hum Genet, 60, 113 Flint, 1997, The relationship between chromosome structure and function al a human telorneric region, Nat Comet, 15, 252 Sprung, 1999, Chromosome healing in mouse embryonic stem cells, Proc Nat Acad Sci USA, 96, 6181, 10.1073/pnas.96.12.6781 Meltzer, 1993, Telornere capture stabilizes chromosome breakage, Nat Genet, 4, 252, 10.1038/ng0793-252 Fouladi, 2000, The relaTionship beTween spontaneous telomere loss and chromosome instability in a human turner cell line, Neoplasia, 2, 540, 10.1038/sj.neo.7900107 Hackeb, 2001, Telomere dysfunction increases mutation rates and genornic instability, Cell, 106, 27586 Bosco, 1998, Chromosome break-induced replicaSon leads to nonreciprocal translocations and telomere capture, Genetics, 150, 1037, 10.1093/genetics/150.3.1037 Rudolph, 2001, Telomere dysfunction and evolution of intes.inal carcinoma in mice and humans, Nat Genet, 28, 155, 10.1038/88871 Shuster, 2000, A consistent pattern a' RIN1 rearrangements in oral squamous cell carcinoma cell lines supports a breakage fusion bridge cycle model for itg23 amplification, Genes Chromosomes Cancer, 28, 153, 10.1002/(SICI)1098-2264(200006)28:2<153::AID-GCC4>3.0.CO;2-9 Hellman, 2002, A role for common fragile site induction in amplification of human oncogenes, Cancer Cell, 1, 89, 10.1016/S1535-6108(02)00017-X Sirigor, 2000, Amplification of the human dihydrofolate reductase gene vra double minutes is initiated by chromosome breaks, Pace Carl Aced Set USA, 97, 7921 O'Toole, 1983, Identity of some human bladder cancer cell lines, Nature, 301, 429, 10.1038/301429a0 Murnane, 1985, EsTablishment and characterization of a pernianerd pSVori- transformed ataxia-telangiecTacia cell line, Exp Cet Res, 158, 119, 10.1016/0014-4827(85)90437-9 Dutrillaux, 1981 Lemieux, 1992, A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes, Cytogenet Cell Genet, 59, 311, 10.1159/000133277 Doggett, 1995, An integrated physical map of human chromosome, Nature, 377, 335 Longmire, 1993, Construction and characterization of partial digest DNA, Genet Anal Tech Appl, 10, 69, 10.1016/1050-3862(93)90037-J Knight, 2000, An optimized set of human telornere clones for studying telomere integrity and architecture, Am J Hum Genet, 67, 320, 10.1086/302998 Lansdorp, 1996, Heterogeneity in telomere length of human chromosomes, Hum Mat Genet, 5, 685, 10.1093/hmg/5.5.685 Hanish, 1994, Stringent sequence requirements for iheformation of human telomeres, Pro; NaG'Arad Sci USA, 91, 8861, 10.1073/pnas.91.19.8861 Barnett, 1993, Telomere directed fragmentation of mammalian chromosomes, Nucierc Acids Res, 21, 27, 10.1093/nar/21.1.27 Farr, 1991, Functional reimroductien cf human telomeres into mammalian cells, Pre Nat' Acad Sci USA, 86, 7006, 10.1073/pnas.88.16.7006 Sprung, 1999, Telomere dynamics in human cancer cell line, Exp Cell Res, 247, 29, 10.1006/excr.1998.4293 Gisselsscn, 2000, Chromosomal breakage-fusion-bridge events cause genetic ruratumor heTerogenery, Prx NadAcadSci USA, 97, 5357, 10.1073/pnas.090013497 Akgun, 1997, Palindrome resoluficn and recombination in the mammalian germ line, Mot Cell Blol, 17, 5559, 10.1128/MCB.17.9.5559 Waldman, 1999, Long inverted repeats are an at-risk motif for recombination in mammalian cells, Genetics, 153, 1873, 10.1093/genetics/153.4.1873 Gebow, 2000, Homologous and nonhorrologous recombination resulting in deletion: effects of p53 status, microhomology, repeTnive DNA Ienrch and orientation, Mot Celt Brci, 20, 4028 Ford, 1986, Large inverted duplications are associated witir gene amplification, Cott, 45, 425 Artandi, 2000, Telomere dysfunction promotes non-reciprocal translocations and epdhefal cancers in mice, Nature, 406, 641, 10.1038/35020592 Atkin, 1986, Lack of nonreciprocal translocations in carcinomas, Cancer Genet Cytogenet, 21, 275, 10.1016/0165-4608(86)90009-9