DNA double-strand break repair and chromosome translocations

DNA Repair

Volumn 5, Issue 9-10, 2006, Pages 1075-1081

  Agarwal, Sheba ^a   Tafel, Agnieszka A ^a   Kanaar, Roland ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Fragile sites; Homologous recombination; Non homologous end joining; Translocations

Indexed keywords

ANTINEOPLASTIC AGENT; ATM PROTEIN; BRCA2 PROTEIN; DNA POLYMERASE; DOUBLE STRANDED DNA; RAD52 PROTEIN; SINGLE STRANDED DNA; T LYMPHOCYTE RECEPTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ALU SEQUENCE; ARTICLE; CANCER CHEMOTHERAPY; CANCER SURVIVAL; CELL CYCLE G2 PHASE; CELL CYCLE S PHASE; CHROMATID; CHROMOSOME TRANSLOCATION; DNA REPAIR; DNA SEQUENCE; DNA STRAND BREAKAGE; DNA STRUCTURE; GENE REARRANGEMENT; GENE TRANSLOCATION; GENOMIC INSTABILITY; HOMEOBOX; HOMOLOGOUS RECOMBINATION; HOX GENE; HUMAN; NON HOMOLOGOUS END JOINING; NONHUMAN; ONCOGENE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; T CELL LEUKEMIA;

CHROMOSOME BREAKAGE; DNA DAMAGE; DNA REPAIR; HUMANS; MODELS, GENETIC; NEOPLASMS; RECOMBINATION, GENETIC; TRANSLOCATION, GENETIC;

EID: 33747882881     PISSN: 15687864     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dnarep.2006.05.029     Document Type: Article

References (64)

1. Nowell P.C., and Hungerford D.A. A minute chromosome in human chronic granulocytic leukemia. Science 132 (1960) 1497
2. de Klein A., van Kessel A.G., Grosveld G., Bartram C.R., Hagemeijer A., Bootsma D., Spurr N.K., Heisterkamp N., Groffen J., and Stephenson J.R. A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300 (1982) 765-767
3. Kirsch I.R., Morton C.C., Nakahara K., and Leder P. Human immunoglobulin heavy chain genes map to a region of translocations in malignant B lymphocytes. Science 216 (1982) 301-303
4. Dalla-Favera R., Bregni M., Erikson J., Patterson D., Gallo R.C., and Croce C.M. Human c-myc one gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells. Proc. Natl. Acad. Sci. USA 79 (1982) 7824-7827
5. Lenoir G.M., Preud'homme J.L., Bernheim A., and Berger R. Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma. Nature 298 (1982) 474-476
6. Dang C.V., Li F., and Lee L.A. Could MYC induction of mitochondrial biogenesis be linked to ROS production and genomic instability?. Cell Cycle 4 (2005) 1465-1466
7. Hatano M., Roberts C.W., Minden M., Crist W.M., and Korsmeyer S.J. Deregulation of a homeobox gene, HOX11, by the t(10; 14) in T cell leukemia. Science 253 (1991) 79-82
8. Rowley J.D. Chromosome translocations: dangerous liaisons revisited. Nat. Rev. Cancer 1 (2001) 245-250
9. Kolialexi A., Tsangaris G.T., Kitsiou S., Kanavakis E., and Mavrou A. Impact of cytogenetic and molecular cytogenetic studies on hematologic malignancies. Anticancer Res. 25 (2005) 2979-2983
10. Staudt L.M. Molecular diagnosis of the hematologic cancers. N. Engl. J. Med. 348 (2003) 1777-1785
11. Friedberg E.C., McDaniel L.D., and Schultz R.A. The role of endogenous and exogenous DNA damage and mutagenesis. Curr. Opin. Genet. Dev. 14 (2004) 5-10
12. Haber J.E. DNA recombination: the replication connection. Trends Biochem. Sci. 24 (1999) 271-275
13. van Gent D.C., Hoeijmakers J.H., and Kanaar R. Chromosomal stability and the DNA double-stranded break connection. Nat. Rev. Genet. 2 (2001) 196-206
14. Game J.C., and Mortimer R.K. A genetic study of x-ray sensitive mutants in yeast. Mutat. Res. 24 (1974) 281-292
15. Symington L.S. Role of RAD52 epistasis group genes in homologous recombination and double-strand break repair. Microbiol. Mol. Biol. Rev. 66 (2002) 630-670 table of contents
16. Dudas A., and Chovanec M. DNA double-strand break repair by homologous recombination. Mutat. Res. 566 (2004) 131-167
17. Moynahan M.E., Chiu J.W., Koller B.H., and Jasin M. Brca1 controls homology-directed DNA repair. Mol. Cell 4 (1999) 511-518
18. Moynahan M.E., Pierce A.J., and Jasin M. BRCA2 is required for homology-directed repair of chromosomal breaks. Mol. Cell 7 (2001) 263-272
19. Davies A.A., Masson J.Y., McIlwraith M.J., Stasiak A.Z., Stasiak A., Venkitaraman A.R., and West S.C. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol. Cell 7 (2001) 273-282
20. Lavin M.F. The Mre11 complex and ATM: a two-way functional interaction in recognising and signaling DNA double strand breaks. DNA Repair (Amst.) 3 (2004) 1515-1520
21. Shivji M.K., and Venkitaraman A.R. DNA recombination, chromosomal stability and carcinogenesis: insights into the role of BRCA2. DNA Repair (Amst.) 3 (2004) 835-843
22. Pellegrini L., and Venkitaraman A. Emerging functions of BRCA2 in DNA recombination. Trends Biochem. Sci. 29 (2004) 310-316
23. Yu V.P., Koehler M., Steinlein C., Schmid M., Hanakahi L.A., van Gool A.J., West S.C., and Venkitaraman A.R. Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. Genes Dev. 14 (2000) 1400-1406
24. Johnson R.D., and Jasin M. Sister chromatid gene conversion is a prominent double-strand break repair pathway in mammalian cells. EMBO J. 19 (2000) 3398-3407
25. Schichman S.A., Canaani E., and Croce C.M. Self-fusion of the ALL1 gene. A new genetic mechanism for acute leukemia. JAMA 273 (1995) 571-576
26. Caligiuri M.A., Strout M.P., Schichman S.A., Mrozek K., Arthur D.C., Herzig G.P., Baer M.R., Schiffer C.A., Heinonen K., Knuutila S., Nousiainen T., Ruutu T., Block A.W., Schulman P., Pedersen-Bjergaard J., Croce C.M., and Bloomfield C.D. Partial tandem duplication of ALL1 as a recurrent molecular defect in acute myeloid leukemia with trisomy 11. Cancer Res. 56 (1996) 1418-1425
27. Caligiuri M.A., Strout M.P., Oberkircher A.R., Yu F., de la Chapelle A., and Bloomfield C.D. The partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics or trisomy 11 is restricted to one chromosome. Proc. Natl. Acad. Sci. USA 94 (1997) 3899-3902
28. Strout M.P., Marcucci G., Bloomfield C.D., and Caligiuri M.A. The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia. Proc. Natl. Acad. Sci. USA 95 (1998) 2390-2395
29. Schichman S.A., Caligiuri M.A., Strout M.P., Carter S.L., Gu Y., Canaani E., Bloomfield C.D., and Croce C.M. ALL-1 tandem duplication in acute myeloid leukemia with a normal karyotype involves homologous recombination between Alu elements. Cancer Res. 54 (1994) 4277-4280
30. West S.C. Molecular views of recombination proteins and their control. Nat. Rev. Mol. Cell. Biol. 4 (2003) 435-445
31. Richardson C., and Jasin M. Frequent chromosomal translocations induced by DNA double-strand breaks. Nature 405 (2000) 697-700
32. Griffin C.S., and Thacker J. The role of homologous recombination repair in the formation of chromosome aberrations. Cytogenet. Genome. Res. 104 (2004) 21-27
33. Weterings E., and van Gent D.C. The mechanism of non-homologous end-joining: a synopsis of synapsis. DNA Repair (Amst.) 3 (2004) 1425-1435
34. Feldmann E., Schmiemann V., Goedecke W., Reichenberger S., and Pfeiffer P. DNA double-strand break repair in cell-free extracts from Ku80-deficient cells: implications for Ku serving as an alignment factor in non-homologous DNA end joining. Nucl. Acids Res. 28 (2000) 2585-2596
35. Pfeiffer P., Goedecke W., Kuhfittig-Kulle S., and Obe G. Pathways of DNA double-strand break repair and their impact on the prevention and formation of chromosomal aberrations. Cytogenet. Genome. Res. 104 (2004) 7-13
36. Thode S., Schafer A., Pfeiffer P., and Vielmetter W. A novel pathway of DNA end-to-end joining. Cell 60 (1990) 921-928
37. Jeggo P.A., and Lobrich M. Artemis links ATM to double strand break rejoining. Cell Cycle 4 (2005) 359-362
38. Riballo E., Kuhne M., Rief N., Doherty A., Smith G.C., Recio M.J., Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P., Gennery A., Jeggo P.A., and Lobrich M. A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. Mol. Cell 16 (2004) 715-724
39. Lin W.C., and Desiderio S. Regulation of V(D)J recombination activator protein RAG-2 by phosphorylation. Science 260 (1993) 953-959
40. Ferguson D.O., and Alt F.W. DNA double strand break repair and chromosomal translocation: lessons from animal models. Oncogene 20 (2001) 5572-5579
41. Bassing C.H., and Alt F.W. The cellular response to general and programmed DNA double strand breaks. DNA Repair (Amst.) 3 (2004) 781-796
42. Manis J.P., Tian M., and Alt F.W. Mechanism and control of class-switch recombination. Trends Immunol. 23 (2002) 31-39
43. Haluska F.G., Finver S., Tsujimoto Y., and Croce C.M. The t(8; 14) chromosomal translocation occurring in B-cell malignancies results from mistakes in V-D-J joining. Nature 324 (1986) 158-161
44. Finger L.R., Harvey R.C., Moore R.C., Showe L.C., and Croce C.M. A common mechanism of chromosomal translocation in T- and B-cell neoplasia. Science 234 (1986) 982-985
45. Blunt T., Finnie N.J., Taccioli G.E., Smith G.C., Demengeot J., Gottlieb T.M., Mizuta R., Varghese A.J., Alt F.W., Jeggo P.A., et al. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation. Cell 80 (1995) 813-823
46. Kirchgessner C.U., Patil C.K., Evans J.W., Cuomo C.A., Fried L.M., Carter T., Oettinger M.A., and Brown J.M. DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 267 (1995) 1178-1183
47. Mills K.D., Ferguson D.O., and Alt F.W. The role of DNA breaks in genomic instability and tumorigenesis. Immunol. Rev. 194 (2003) 77-95
48. Van Veelen L.R., Kanaar R., and van Gent D.C. In: Degos L., Linch D.C., and Lowenberg B. (Eds). DNA repair and malignant hematopoiesis. Textbook of Malignant Hematology. second ed. (2005), Taylor & Francis Group, London, UK 155-164
49. Vanasse G.J., Halbrook J., Thomas S., Burgess A., Hoekstra M.F., Disteche C.M., and Willerford D.M. Genetic pathway to recurrent chromosome translocations in murine lymphoma involves V(D)J recombinase. J. Clin. Invest. 103 (1999) 1669-1675
50. Taub R., Kirsch I., Morton C., Lenoir G., Swan D., Tronick S., Aaronson S., and Leder P. Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells. Proc. Natl. Acad. Sci. USA 79 (1982) 7837-7841
51. Ramiro A.R., Jankovic M., Eisenreich T., Difilippantonio S., Chen-Kiang S., Muramatsu M., Honjo T., Nussenzweig A., and Nussenzweig M.C. AID is required for c-myc/IgH chromosome translocations in vivo. Cell 118 (2004) 431-438
52. Wang Y.H. Chromatin structure of human chromosomal fragile sites. Cancer Lett. (2005)
53. Surralles J., Puerto S., Ramirez M.J., Creus A., Marcos R., Mullenders L.H., and Natarajan A.T. Links between chromatin structure, DNA repair and chromosome fragility. Mutat. Res. 404 (1998) 39-44
54. Huebner K., and Croce C.M. FRA3B and other common fragile sites: the weakest links. Nat. Rev. Cancer 1 (2001) 214-221
55. Lichten M., and Goldman A.S. Meiotic recombination hotspots. Annu. Rev. Genet. 29 (1995) 423-444
56. Raghavan S.C., Swanson P.C., Wu X., Hsieh C.L., and Lieber M.R. A non-B-DNA structure at the Bcl-2 major breakpoint region is cleaved by the RAG complex. Nature 428 (2004) 88-93
57. Bacolla A., Jaworski A., Larson J.E., Jakupciak J.P., Chuzhanova N., Abeysinghe S.S., O'Connell C.D., Cooper D.N., and Wells R.D. Breakpoints of gross deletions coincide with non-B DNA conformations. Proc. Natl. Acad. Sci. USA 101 (2004) 14162-14167
58. Wang G., and Vasquez K.M. Naturally occurring H-DNA-forming sequences are mutagenic in mammalian cells. Proc. Natl. Acad. Sci. USA 101 (2004) 13448-13453
59. Gotter A.L., Shaikh T.H., Budarf M.L., Rhodes C.H., and Emanuel B.S. A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum. Mol. Genet. 13 (2004) 103-115
60. Chuzhanova N., Abeysinghe S.S., Krawczak M., and Cooper D.N. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum. Mutat. 22 (2003) 245-251
61. Nimmakayalu M.A., Gotter A.L., Shaikh T.H., and Emanuel B.S. A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22). Hum. Mol. Genet. 12 (2003) 2817-2825
62. Kurahashi H., Inagaki H., Yamada K., Ohye T., Taniguchi M., Emanuel B.S., and Toda T. Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J. Biol. Chem. 279 (2004) 35377-35383
63. Glover T.W., Arlt M.F., Casper A.M., and Durkin S.G. Mechanisms of common fragile site instability. Hum. Mol. Genet. 14 Spec No. 2 (2005) R197-205
64. Kao-Shan C.S., Fine R.L., Whang-Peng J., Lee E.C., and Chabner B.A. Increased fragile sites and sister chromatid exchanges in bone marrow and peripheral blood of young cigarette smokers. Cancer Res. 47 (1987) 6278-6282