One-hit wonders of genomic instability
Tóm tắt
Tài liệu tham khảo
Santarius T, Shipley J, Brewer D, Stratton MR, Cooper CS: A census of amplified and overexpressed human cancer genes. Nat Rev Cancer 2010,10(1):59–64. 10.1038/nrc2771
Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ, Greenman CD, Varela I, Lin ML, Ordonez GR, Bignell GR, et al.: A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 2010,463(7278):191–196. 10.1038/nature08658
Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, Simpson JT, Stebbings LA, Leroy C, Edkins S, Mudie LJ, et al.: Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 2009,462(7276):1005–1010. 10.1038/nature08645
Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, Santarius T, Stebbings LA, Leroy C, Edkins S, Hardy C, et al.: Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 2008,40(6):722–729. 10.1038/ng.128
Lengauer C, Kinzler KW, Vogelstein B: Genetic instability in colorectal cancers. Nature 1997,386(6625):623–627. 10.1038/386623a0
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al.: Finding the missing heritability of complex diseases. Nature 2009,461(7265):747–753. 10.1038/nature08494
Hannan AJ: Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'. Trends Genet 2010,26(2):59–65. 10.1016/j.tig.2009.11.008
Segditsas S, Rowan AJ, Howarth K, Jones A, Leedham S, Wright NA, Gorman P, Chambers W, Domingo E, Roylance RR, et al.: APC and the three-hit hypothesis. Oncogene 2009,28(1):146–155. 10.1038/onc.2008.361
Soutoglou E, Dorn JF, Sengupta K, Jasin M, Nussenzweig A, Ried T, Danuser G, Misteli T: Positional stability of single double-strand breaks in mammalian cells. Nat Cell Biol 2007,9(6):675–682. 10.1038/ncb1591
Michaelis C, Ciosk R, Nasmyth K: Cohesins: chromosomal proteins that prevent premature separation of sister chromatids. Cell 1997,91(1):35–45. 10.1016/S0092-8674(01)80007-6
Nasmyth K, Haering CH: Cohesin: its roles and mechanisms. Annu Rev Genet 2009, 43: 525–558. 10.1146/annurev-genet-102108-134233
Canudas S, Smith S: Differential regulation of telomere and centromere cohesion by the Scc3 homologues SA1 and SA2, respectively, in human cells. J Cell Biol 2009,187(2):165–173. 10.1083/jcb.200903096
Pauli A, Althoff F, Oliveira RA, Heidmann S, Schuldiner O, Lehner CF, Dickson BJ, Nasmyth K: Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons. Dev Cell 2008,14(2):239–251. 10.1016/j.devcel.2007.12.009
Schuldiner O, Berdnik D, Levy JM, Wu JS, Luginbuhl D, Gontang AC, Luo L: piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning. Dev Cell 2008,14(2):227–238. 10.1016/j.devcel.2007.11.001
Oliveira RA, Hamilton RS, Pauli A, Davis I, Nasmyth K: Cohesin cleavage and Cdk inhibition trigger formation of daughter nuclei. Nat Cell Biol 2010,12(2):185–192. 10.1038/ncb2018
Uhlmann F, Wernic D, Poupart MA, Koonin EV, Nasmyth K: Cleavage of cohesin by the CD clan protease separin triggers anaphase in yeast. Cell 2000,103(3):375–386. 10.1016/S0092-8674(00)00130-6
Uzawa S, Samejima I, Hirano T, Tanaka K, Yanagida M: The fission teast cut1+ gene regulates spindle pole doby duplication and has homology to the budding yeast ESP1 gene. Cell 1990, 62: 913–925. 10.1016/0092-8674(90)90266-H
Kumada K, Yao R, Kawaguchi T, Karasawa M, Hoshikawa Y, Ichikawa K, Sugitani Y, Imoto I, Inazawa J, Sugawara M, et al.: The selective continued linkage of centromeres from mitosis to interphase in the absence of mammalian separase. J Cell Biol 2006,172(6):835–846. 10.1083/jcb.200511126
Lu Y, Cross F: Mitotic exit in the absence of separase activity. Mol Biol Cell 2009,20(5):1576–1591. 10.1091/mbc.E08-10-1042
Jager H, Herzig A, Lehner CF, Heidmann S: Drosophila separase is required for sister chromatid separation and binds to PIM and THR. Genes Dev 2001,15(19):2572–2584. 10.1101/gad.207301
Wirth KG, Wutz G, Kudo NR, Desdouets C, Zetterberg A, Taghybeeglu S, Seznec J, Ducos GM, Ricci R, Firnberg N, et al.: Separase: a universal trigger for sister chromatid disjunction but not chromosome cycle progression. J Cell Biol 2006,172(6):847–860. 10.1083/jcb.200506119
Hauf S, Waizenegger IC, Peters JM: Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. Science 2001,293(5533):1320–1323. 10.1126/science.1061376
Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004,13(Spec No 1):R57–64. 10.1093/hmg/ddh073
Hirota T, Gerlich D, Koch B, Ellenberg J, Peters JM: Distinct functions of condensin I and II in mitotic chromosome assembly. J Cell Sci 2004,117(Pt 26):6435–6445. 10.1242/jcs.01604
Palframan WJ, Meehl JB, Jaspersen SL, Winey M, Murray AW: Anaphase inactivation of the spindle checkpoint. Science 2006,313(5787):680–684. 10.1126/science.1127205
Mannini L, Liu J, Krantz ID, Musio A: Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat 2010,31(1):5–10. 10.1002/humu.21129
Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, et al.: Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 2009,18(3):418–427. 10.1093/hmg/ddn369
Barber TD, McManus K, Yuen KW, Reis M, Parmigiani G, Shen D, Barrett I, Nouhi Y, Spencer F, Markowitz S, et al.: Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci USA 2008,105(9):3443–3448. 10.1073/pnas.0712384105
Zhang N, Ge G, Meyer R, Sethi S, Basu D, Pradhan S, Zhao YJ, Li XN, Cai WW, El-Naggar AK, et al.: Overexpression of Separase induces aneuploidy and mammary tumorigenesis. Proc Natl Acad Sci USA 2008,105(35):13033–13038. 10.1073/pnas.0801610105
Shepard JL, Amatruda JF, Finkelstein D, Ziai J, Finley KR, Stern HM, Chiang K, Hersey C, Barut B, Freeman JL, et al.: A mutation in separase causes genome instability and increased susceptibility to epithelial cancer. Genes Dev 2007,21(1):55–59. 10.1101/gad.1470407
Kimura K, Hirano T: ATP-dependent positive supercoiling of DNA by 13S condensin: a biochemical implication for chromosome condensation. Cell 1997,90(4):625–634. 10.1016/S0092-8674(00)80524-3
Freeman L, Aragon-Alcaide L, Strunnikov A: The condensin complex governs chromosome condensation and mitotic transmission of rDNA. J Cell Biol 2000,149(4):811–824. 10.1083/jcb.149.4.811
Yu HG, Koshland D: Chromosome morphogenesis: condensin-dependent cohesin removal during meiosis. Cell 2005,123(3):397–407. 10.1016/j.cell.2005.09.014
Onn I, Aono N, Hirano M, Hirano T: Reconstitution and subunit geometry of human condensin complexes. Embo J 2007,26(4):1024–1034. 10.1038/sj.emboj.7601562
Takemoto A, Maeshima K, Ikehara T, Yamaguchi K, Murayama A, Imamura S, Imamoto N, Yokoyama S, Hirano T, Watanabe Y, et al.: The chromosomal association of condensin II is regulated by a noncatalytic function of PP2A. Nat Struct Mol Biol 2009,16(12):1302–1308. 10.1038/nsmb.1708
Ono T, Fang Y, Spector DL, Hirano T: Spatial and temporal regulation of Condensins I and II in mitotic chromosome assembly in human cells. Mol Biol Cell 2004,15(7):3296–3308. 10.1091/mbc.E04-03-0242
Takemoto A, Kimura K, Yanagisawa J, Yokoyama S, Hanaoka F: Negative regulation of condensin I by CK2-mediated phosphorylation. Embo J 2006,25(22):5339–5348. 10.1038/sj.emboj.7601394
Kimura K, Rybenkov VV, Crisona NJ, Hirano T, Cozzarelli NR: 13S condensin actively reconfigures DNA by introducing global positive writhe: implications for chromosome condensation. Cell 1999,98(2):239–248. 10.1016/S0092-8674(00)81018-1
Mora-Bermudez F, Gerlich D, Ellenberg J: Maximal chromosome compaction occurs by axial shortening in anaphase and depends on Aurora kinase. Nat Cell Biol 2007,9(7):822–831. 10.1038/ncb1606
Hagstrom KA, Holmes VF, Cozzarelli NR, Meyer BJ: C. elegans condensin promotes mitotic chromosome architecture, centromere organization, and sister chromatid segregation during mitosis and meiosis. Genes Dev 2002,16(6):729–742. 10.1101/gad.968302
Oliveira RA, Coelho PA, Sunkel CE: The condensin I subunit Barren/CAP-H is essential for the structural integrity of centromeric heterochromatin during mitosis. Mol Cell Biol 2005,25(20):8971–8984. 10.1128/MCB.25.20.8971-8984.2005
Yong-Gonzalez V, Wang BD, Butylin P, Ouspenski I, Strunnikov A: Condensin function at centromere chromatin facilitates proper kinetochore tension and ensures correct mitotic segregation of sister chromatids. Genes Cells 2007,12(9):1075–1090. 10.1111/j.1365-2443.2007.01109.x
Ribeiro SA, Gatlin JC, Dong Y, Joglekar A, Cameron L, Hudson DF, Farr CJ, McEwen BF, Salmon ED, Earnshaw WC, et al.: Condensin Regulates the Stiffness of Vertebrate Centromeres. Mol Biol Cell 2009,20(9):2371–2380. 10.1091/mbc.E08-11-1127
Uchida KS, Takagaki K, Kumada K, Hirayama Y, Noda T, Hirota T: Kinetochore stretching inactivates the spindle assembly checkpoint. J Cell Biol 2009,184(3):383–390. 10.1083/jcb.200811028
Bazett-Jones DP, Kimura K, Hirano T: Efficient supercoiling of DNA by a single condensin complex as revealed by electron spectroscopic imaging. Mol Cell 2002,9(6):1183–1190. 10.1016/S1097-2765(02)00546-4
Furuyama T, Henikoff S: Centromeric nucleosomes induce positive DNA supercoils. Cell 2009,138(1):104–113. 10.1016/j.cell.2009.04.049
Vagnarelli P, Hudson DF, Ribeiro SA, Trinkle-Mulcahy L, Spence JM, Lai F, Farr CJ, Lamond AI, Earnshaw WC: Condensin and Repo-Man-PP1 co-operate in the regulation of chromosome architecture during mitosis. Nat Cell Biol 2006,8(10):1133–1142. 10.1038/ncb1475
Moore LL, Stanvitch G, Roth MB, Rosen D: HCP-4/CENP-C promotes the prophase timing of centromere resolution by enabling the centromere association of HCP-6 in Caenorhabditis elegans. Mol Cell Biol 2005,25(7):2583–2592. 10.1128/MCB.25.7.2583-2592.2005
Salmon ED, Cimini D, Cameron LA, DeLuca JG: Merotelic kinetochores in mammalian tissue cells. Philos Trans R Soc Lond B Biol Sci 2005,360(1455):553–568. 10.1098/rstb.2004.1610
Liu D, Vader G, Vromans MJ, Lampson MA, Lens SM: Sensing chromosome bi-orientation by spatial separation of aurora B kinase from kinetochore substrates. Science 2009,323(5919):1350–1353. 10.1126/science.1167000
Lilly MA, Duronio RJ: New insights into cell cycle control from the Drosophila endocycle. Oncogene 2005,24(17):2765–2775. 10.1038/sj.onc.1208610
Hong A, Narbonne-Reveau K, Riesgo-Escovar J, Fu H, Aladjem MI, Lilly MA: The cyclin-dependent kinase inhibitor Dacapo promotes replication licensing during Drosophila endocycles. Embo J 2007,26(8):2071–2082. 10.1038/sj.emboj.7601648
Mehrotra S, Maqbool SB, Kolpakas A, Murnen K, Calvi BR: Endocycling cells do not apoptose in response to DNA rereplication genotoxic stress. Genes Dev 2008,22(22):3158–3171. 10.1101/gad.1710208
McCleland ML, Shermoen AW, O'Farrell PH: DNA replication times the cell cycle and contributes to the mid-blastula transition in Drosophila embryos. J Cell Biol 2009,187(1):7–14. 10.1083/jcb.200906191
Zhang J, Song YH, Brannigan BW, Wahrer DC, Schiripo TA, Harris PL, Haserlat SM, Ulkus LE, Shannon KM, Garber JE, et al.: Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin. Mol Cancer Res 2009,7(9):1510–1516. 10.1158/1541-7786.MCR-09-0033
Navas TA, Zhou Z, Elledge SJ: DNA polymerase epsilon links the DNA replication machinery to the S phase checkpoint. Cell 1995,80(1):29–39. 10.1016/0092-8674(95)90448-4
D'Urso G, Nurse P: Schizosaccharomyces pombe cdc20+ encodes DNA polymerase epsilon and is required for chromosomal replication but not for the S phase checkpoint. Proc Natl Acad Sci USA 1997,94(23):12491–12496. 10.1073/pnas.94.23.12491
Early A, Drury LS, Diffley JF: Mechanisms involved in regulating DNA replication origins during the cell cycle and in response to DNA damage. Philos Trans R Soc Lond B Biol Sci 2004,359(1441):31–38. 10.1098/rstb.2003.1362
Lengronne A, Schwob E: The yeast CDK inhibitor Sic1 prevents genomic instability by promoting replication origin licensing in late G(1). Mol Cell 2002,9(5):1067–1078. 10.1016/S1097-2765(02)00513-0
Clifford DM, Chen CT, Roberts RH, Feoktistova A, Wolfe BA, Chen JS, McCollum D, Gould KL: The role of Cdc14 phosphatases in the control of cell division. Biochem Soc Trans 2008,36(Pt 3):436–438. 10.1042/BST0360436
Khmelinskii A, Roostalu J, Roque H, Antony C, Schiebel E: Phosphorylation-dependent protein interactions at the spindle midzone mediate cell cycle regulation of spindle elongation. Dev Cell 2009,17(2):244–256. 10.1016/j.devcel.2009.06.011
Bassermann F, Frescas D, Guardavaccaro D, Busino L, Peschiaroli A, Pagano M: The Cdc14B-Cdh1-Plk1 axis controls the G2 DNA-damage-response checkpoint. Cell 2008,134(2):256–267. 10.1016/j.cell.2008.05.043
Dulev S, de Renty C, Mehta R, Minkov I, Schwob E, Strunnikov A: Essential global role of CDC14 in DNA synthesis revealed by chromosome underreplication unrecognized by checkpoints in cdc14 mutants. Proc Natl Acad Sci USA 2009,106(34):14466–14471. 10.1073/pnas.0900190106
Geymonat M, Spanos A, Wells GP, Smerdon SJ, Sedgwick SG: Clb6/Cdc28 and Cdc14 regulate phosphorylation status and cellular localization of Swi6. Mol Cell Biol 2004,24(6):2277–2285. 10.1128/MCB.24.6.2277-2285.2004
Bloom J, Cross FR: Novel role for Cdc14 sequestration: Cdc14 dephosphorylates factors that promote DNA replication. Mol Cell Biol 2007,27(3):842–853. 10.1128/MCB.01069-06
Tomson BN, D'Amours D, Adamson BS, Aragon L, Amon A: Ribosomal DNA transcription-dependent processes interfere with chromosome segregation. Mol Cell Biol 2006,26(16):6239–6247. 10.1128/MCB.00693-06
Clemente-Blanco A, Mayan-Santos M, Schneider DA, Machin F, Jarmuz A, Tschochner H, Aragon L: Cdc14 inhibits transcription by RNA polymerase I during anaphase. Nature 2009,458(7235):219–222. 10.1038/nature07652
Wang BD, Eyre D, Basrai M, Lichten M, Strunnikov A: Condensin binding at distinct and specific chromosomal sites in the Saccharomyces cerevisiae genome. Mol Cell Biol 2005,25(16):7216–7225. 10.1128/MCB.25.16.7216-7225.2005
Ishida T, Fujiwara S, Miura K, Stacey N, Yoshimura M, Schneider K, Adachi S, Minamisawa K, Umeda M, Sugimoto K: SUMO E3 ligase HIGH PLOIDY2 regulates endocycle onset and meristem maintenance in Arabidopsis. Plant Cell 2009,21(8):2284–2297. 10.1105/tpc.109.068072
Zielke N, Querings S, Rottig C, Lehner C, Sprenger F: The anaphase-promoting complex/cyclosome (APC/C) is required for rereplication control in endoreplication cycles. Genes Dev 2008,22(12):1690–1703. 10.1101/gad.469108
McCarroll RM, Fangman WL: Time of replication of yeast centromeres and telomeres. Cell 1988,54(4):505–513. 10.1016/0092-8674(88)90072-4
Raghuraman MK, Winzeler EA, Collingwood D, Hunt S, Wodicka L, Conway A, Lockhart DJ, Davis RW, Brewer BJ, Fangman WL: Replication dynamics of the yeast genome. Science 2001,294(5540):115–121. 10.1126/science.294.5540.115
Feng W, Bachant J, Collingwood D, Raghuraman MK, Brewer BJ: Centromere replication timing determines different forms of genomic instability in Saccharomyces cerevisiae checkpoint mutants during replication stress. Genetics 2009,183(4):1249–1260. 10.1534/genetics.109.107508
Mendoza M, Norden C, Durrer K, Rauter H, Uhlmann F, Barral Y: A mechanism for chromosome segregation sensing by the NoCut checkpoint. Nat Cell Biol 2009,11(4):477–483. 10.1038/ncb1855