Deletion, Rearrangement, and Gene Conversion; Genetic Consequences of Chromosomal Double-Strand Breaks in Human Cells

Environmental and Molecular Mutagenesis

Volumn 42, Issue 4, 2003, Pages 288-298

  Honma, Masamitsu ^a   Izumi, Masako ^b   Sakuraba, Mayumi ^a   Tadokoro, Satoshi ^a   Sakamoto, Hiroko ^a   Wang, Wensheng ^a   Yatagai, Fumio ^b   Hayashi, Makoto ^a  

^a NATIONAL INSTITUTE OF HEALTH SCIENCES   (Japan)

^b INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

Author keywords

Double strand breaks; End joining; Human somatic cells; Inter allelic recombination

Indexed keywords

ENDONUCLEASE; THYMIDINE KINASE;

ALLELE; ARTICLE; CHROMOSOME BREAKAGE; CONTROLLED STUDY; CROSSING OVER; DELETION MUTANT; GENE CONVERSION; GENE DELETION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC STABILITY; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; MAMMAL CELL; MUTANT; REVERTANT; SISTER CHROMATID;

CHROMOSOMES; DNA; DNA DAMAGE; DNA REPAIR; GENE CONVERSION; GENE DELETION; GENE REARRANGEMENT; GENETIC VECTORS; GENOME, HUMAN; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LYMPHOCYTES; MODELS, GENETIC; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; THYMIDINE KINASE; TRANSFECTION;

MAMMALIA;

EID: 0346728791     PISSN: 08936692     EISSN: None     Source Type: Journal    
DOI: 10.1002/em.10201     Document Type: Article

References (50)

1. Brenneman MA, Wagener BM, Miller CA, Allen C, Nickoloff JA. 2002. XRCC3 controls the fidelity of homologous recombination: roles for XRCC3 in late stages of recombination. Mol Cell 10:387-395.
2. Coquelle A, Pipiras E, Toledo F, Buttin G, Debatisse M. 1997. Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early amplicons. Cell 89:215-225.
3. Cromie GA, Connelly JC, Leach DR. 2001. Recombination at double-strand breaks and DNA ends: conserved mechanisms from phage to humans. Mol Cell 8:1163-1174.
4. Cui X, Brenneman M, Meyne J, Oshimura M, Goodwin EH, Chen DJ. 1999. The XRCC2 and XRCC3 repair genes are required for chromosome stability in mammalian cells. Mutat Res 434:75-88.
5. Elliott B, Richardson C, Winderbaum J, Nickoloff JA, Jasin M. 1998. Gene conversion tracts from double-strand break repair in mammalian cells. Mol Cell Biol 18:93-101.
6. Essers J, van Steeg H, de Wit J, Swagemakers SM, Vermeij M, Hoeijmakers JH, Kanaar R. 2000. Homologous and non-homologous recombination differentially affect DNA damage repair in mice. EMBO J 19:1703-1710.
7. Giver CR, Grosovsky AJ. 1997. Single and coincident intragenic mutations attributable to gene conversion in a human cell line. Genetics 146:1429-1439.
8. Grosovsky AJ, Walter BN, Giver CR. 1993. DNA-sequence specificity of mutations at the human thymidine kinase locus. Mutat Res 289: 231-243.
9. Haber JE. 1995. In vivo biochemistry: physical monitoring of recombination induced by site-specific endonucleases. BioEssays 17:609-620.
10. Haber JE. 1999. DNA recombination: the replication connection. Trends Biochem Sci 24:271-275.
11. Haber JE. 2000. Partners and pathways repairing a double-strand break. Trends Genet 16:259-264.
12. Hendrickson EA. 1997. Cell-cycle regulation of mammalian DNA double-strand-break repair. Am J Hum Genet 61:795-800.
13. Honma M, Hayashi M, Sofuni T. 1997a. Cytotoxic and mutagenic responses to X-rays and chemical mutagens in normal and p53-mutated human lymphoblastoid cells. Mutat Res 374:89-98.
14. Honma M, Zhang LS, Hayashi M, Takeshita K, Nakagawa Y, Tanaka N, Sofuni T. 1997b. Illegitimate recombination leading to allelic loss and unbalanced translocation in p53-mutated human lymphoblastoid cells. Mol Cell Biol 17:4774-4781.
15. Honma M, Momose M, Tanabe H, Sakamoto H, Yu Y, Little JB, Sofuni T, Hayashi M. 2000. Requirement of wild-type p53 protein for maintenance of chromosomal integrity. Mol Carcinog 28:203-214.
16. Honma M, Momose M, Sakamoto H, Sofuni T, Hayashi M. 2001. Spindle poisons induce allelic loss in mouse lymphoma cells through mitotic non-disjunction. Mutat Res 493:101-114.
17. Honma M, Tadokoro S, Sakamoto H, Tanabe H, Sugimoto M, Furuichi Y, Satoh T, Sofuni T, Goto M, Hayashi M. 2002. Chromosomal instability in B-lymphoblastoid cell lines from Werner and Bloom syndrome patients. Mutat Res 520:15.
18. Jackson SP. 2002. Sensing and repairing DNA double-strand breaks. Carcinogenesis 23:687-696.
19. Jackson SP, Jeggo PA. 1995. DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK. Trends Biochem Sci 20: 412-415.
20. Johnson RD, Jasin M. 2000. Sister chromatid gene conversion is a prominent double-strand break repair pathway in mammalian cells. EMBO J 19:3398-3407.
21. Johnson RD, Jasin M. 2001. Double-strand-break-induced homologous recombination in mammalian cells. Biochem Soc Trans 29:196-201.
22. Kadyk LC, Hartwell LH. 1992. Sister chromatids are preferred over homologs as substrates for recombinational repair in Saccharomyces cerevisiae. Genetics 132:387-402.
23. Khanna KK, Jackson SP. 2001. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 27:247-254.
24. Kuo MT, Vyas RC, Jiang LX, Hittelman WN. 1994. Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. Mol Cell Biol 14: 5202-5211.
25. Lasko D, Cavenee W, Nordenskjold M. 1991. Loss of constitutional heterozygosity in human cancer. Annu Rev Genet 25:281-314.
26. Liang F, Han M, Romanienko PJ, Jasin M. 1998. Homology-directed repair is a major double-strand break repair pathway in mammalian cells. Proc Natl Acad Sci USA 95:5172-5177.
27. Liber HL, Thilly WG. 1982. Mutation assay at the thymidine kinase locus in diploid human lymphoblasts. Mutat Res 94:467-485.
28. Lin FL, Sperle K, Sternberg N. 1990. Intermolecular recombination between DNAs introduced into mouse L cells is mediated by a nonconservative pathway that leads to crossover products. Mol Cell Biol 10:103-112.
29. Lin Y, Lukacsovich T, Waldman AS. 1999. Multiple pathways for repair of DNA double-strand breaks in mammalian chromosomes. Mol Cell Biol 19:8353-8360.
30. Little JB, Nagasawa H, Keng PC, Yu Y, Li CY. 1995. Absence of radiation-induced G1 arrest in two closely related human lymphoblast cell lines that differ in p53 status. J Biol Chem 270:11033-11036.
31. Lo AW, Sprung CN, Fouladi B, Pedram M, Sabatier L, Ricoul M, Reynolds GE, Murnane JP. 2002. Chromosome instability as a result of double-strand breaks near telomeres in mouse embryonic stem cells. Mol Cell Biol 22:4836-4850.
32. Moynahan ME, Jasin M. 1997. Loss of heterozygosity induced by a chromosomal double-strand break. Proc Natl Acad Sci USA 94: 8988-8993.
33. Nickoloff JA, Sweetser DB, Clikeman JA, Khalsa GJ, Wheeler SL. 1999. Multiple heterologies increase mitotic double-strand break-induced allelic gene conversion tract lengths in yeast. Genetics 153:665-679.
34. Palmer S, Schildkraut E, Lazarin R, Nguyen J, Nickoloff JA. 2003. Gene conversion tracts in Saccharomyces cerevisiae can be extremely short and highly directional. Nucleic Acids Res 31:1164-1173.
35. Paques F, Haber JE. 1999. Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol Mol Biol Rev 63:349-404.
36. Pipiras E, Coquelle A, Bieth A, Debatisse M. 1998. Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome. EMBO J 17:325-333.
37. Quintana PJ, Neuwirth EA, Grosovsky AJ. 2001. Interchromosomal gene conversion at an endogenous human cell locus. Genetics 158:757-767.
38. Richardson C, Moynahan ME, Jasin M. 1998. Double-strand break repair by interchromosomal recombination: suppression of chromosomal translocations. Genes Dev 12:3831-3842.
39. Rijkers T, Van Den OJ, Morolli B, Rolink AG, Baarends WM, Van Sloun PP, Lohman PH, Pastink A. 1998. Targeted inactivation of mouse RAD52 reduces homologous recombination but not resistance to ionizing mdiation. Mol Cell Biol 18:6423-6429.
40. Sale JE, Calandrini DM, Takata M, Takeda S, Neuberger MS. 2001. Ablation of XRCC2/3 transforms immunoglobulin V gene conversion into somatic hypermutation. Nature 412:921-926.
41. Sargent RG, Brenneman MA, Wilson JH. 1997. Repair of site-specific double-strand breaks in a mammalian chromosome by homologous and illegitimate recombination. Mol Cell Biol 17:267-277.
42. Stark JM, Jasin M. 2003. Extensive loss of heterozygosity is suppressed during homologous repair of chromosomal breaks. Mol Cell Biol 23:733-743.
43. Sugawara N, Ira G, Haber JE. 2000. DNA length dependence of the single-strand annealing pathway and the role of Saccharomyces cerevisiae RAD59 in double-strand break repair. Mol Cell Biol 20:5300-5309.
44. Szostak JW, Orr-Weaver TL, Rothstein RJ, Stahl FW. 1983. The double-strand-break repair model for recombination. Cell 33:25-35.
45. Taghian DG, Nickoloff JA. 1997. Chromosomal double-strand breaks induce gene conversion at high frequency in mammalian cells. Mol Cell Biol 17:6386-6393.
46. Takata M, Sasaki MS, Sonoda E, Morrison C, Hashimoto M, Utsumi H, Yamaguchi-Iwai Y, Shinohara A, Takeda S. 1998. Homologous recombination and non-homologous end-joining pathways of DNA double-strand break repair have overlapping roles in the maintenance of chromosomal integrity in vertebrate cells. EMBO J 17: 5497-5508.
47. Takata M, Sasaki MS, Tachiiri S, Fukushima T, Sonoda E, Schild D, Thompson LH, Takeda S. 2001. Chromosome instability and defective recombinational repair in knockout mutants of the five Rad51 paralogs. Mol Cell Biol 21:2858-2866.
48. Tremblay A, Jasin M, Chartrand P. 2000. A double-strand break in a chromosomal LINE element can be repaired by gene conversion with various endogenous LINE elements in mouse cells. Mol Cell Biol 20:54-60.
49. Van Dyck E, Stasiak AZ, Stasiak A, West SC. 1999. Binding of double-strand breaks in DNA by human Rad52 protein. Nature 398:728-731.
50. van Gent DC, Hoeijmakers JH, Kanaar R. 2001. Chromosomal stability and the DNA double-stranded break connection. Nat Rev Genet 2:196-206.