Phenotype-based identification of mouse chromosome instability mutants

Genetics

Volumn 163, Issue 3, 2003, Pages 1031-1040

  Shima, Naoko ^a   Hartford, Suzanne A ^a   Duffy, Ted ^a   Wilson, Lawriston A ^a   Schimenti, Kerry J ^a   Schimenti, John C ^a  

^a JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; DNA POLYMERASE; DOUBLE STRANDED DNA; ETHYLNITROSOUREA; HELICASE; MITOMYCIN C;

ALLELE; ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOME 16; CHROMOSOME DAMAGE; DNA REPAIR; FLOW CYTOMETRY; GENE MAPPING; GENE MUTATION; GENETIC STABILITY; MALE; MICRONUCLEUS TEST; MOUSE; MUTAGENESIS; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES; CROSSES, GENETIC; DNA DAMAGE; DNA REPAIR; DNA-DIRECTED DNA POLYMERASE; ETHYLNITROSOUREA; FEMALE; MALE; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICRONUCLEUS TESTS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTAGENS; PHENOTYPE; TRANSCRIPTION, GENETIC;

RODENTIA;

EID: 0037356808     PISSN: 00166731     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (60)

1. AGUIRREZABALAGA, I., L. M. SIERRA and M. A. COMENDADOR, 1995 The hypermutability conferred by the mus308 mutation of Drosophila is not specific for cross-linking agents. Mutat. Res. 336: 243-250.
2. BOYD, J. B., M. D. GOLINO, K. E. SHAW, C. J. OSGOOD and M. M. GREEN, 1981 Third-chromosome mutagen-sensitive mutants of Drosophila melanogaster. Genetics 97: 607-623.
3. BOYD, J. B., K. SAKAGUCHI and P. V. HARRIS, 1990 mus308 mutants of Drosophila exhibit hypersensitivity to DNA cross-linking agents and are defective in a deoxyribonuclease. Genetics 125: 813-819.
4. CHEN, M., D. J. TOMKINS, W. AUERBACH, C. MCKERLIE, H. YOUSSOUFIAN et al., 1996 Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat. Genet. 12: 448-451.
5. CHENG, N. C., H. J. VAN DE VRUGT, M. A. VAN DER VALK, A. B. OOSTRA, P. KRIMPENFORT et al., 2000 Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Hum. Mol. Genet. 9: 1805-1811.
6. DENG, C. X., and F. SCOTT, 2000 Role of the tumor suppressor gene Brca1 in genetic stability and mammary gland tumor formation. Oncogene 19: 1059-1064.
7. DERTINGER, S. D., D. K. TOROUS and K. R. TOMETSKO, 1996 Simple and reliable enumeration of micronucleated reticulocytes with a single-laser flow cytometer. Mutat. Res. 371: 283-292.
8. DERTINGER, S. D., D. K. TOROUS, N. E. HALL, C. R. TOMETSKO and T. A. GASIEWICZ, 2000 Malaria-infected erythrocytes serve as biological standards to ensure reliable and consistent scoring of micronucleated erythrocytes by flow cytometry. Mutat. Res. 464: 195-200.
9. DIGWEED, M., A. REIS and K. SPERLING, 1999 Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. Bioessays 21: 649-656.
10. DONEDA, L., G. BASILISCO, P. BIANCHI and L. LARIZZA, 1995 High spontaneous chromosomal damage in lymphocytes from patients with hereditary megaduodenum. Mutat. Res. 348: 33-36.
11. FRIEDBERG, E. C., G. C. WALKER and W. SIEDE, 1995 DNA Repair and Mutagenesis. ASM Press, Washington, DC.
12. GOODMAN, M. F., and B. TIPPIN, 2000 The expanding polymerase universe. Nat. Rev. Mol. Cell Biol. 1: 101-109.
13. HARRIS, P. V., O. M. MAZINA, E. A. LEONHARDT, R. B. CASE, J. B. BOYD et al., 1996 Molecular cloning of Drosophila mus308, a gene involved in DNA cross-link repair with homology to prokaryotic DNA polymerase I genes. Mol. Cell. Biol. 16: 5764-5771.
14. HAYASHI, M., T. MORITA, Y. KODAMA, T. SOFUNI and M. ISHIDATE, JR., 1990 The micronucleus assay with mouse peripheral blood reticulocytes using acridine orange-coated slides. Mutat. Res. 245: 245-249.
15. HEDDLE, J. A., 1973 A rapid in vivo test for chromosomal damage. Mutat. Res. 18: 187-190.
16. HENDRICKSON, E. A., 1997 Cell-cycle regulation of mammalian DNA double-strand-break repair. Am. J. Hum. Genet. 61: 795-800.
17. HITOTSUMACHI, S., D. A. CARPENTER and W. L. RUSSELL, 1985 Doserepetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia. Proc. Natl. Acad. Sci. USA 82: 6619-6621.
18. HRABE DE ANGELIS, M. H., H. FLASWINKEL, H. FUCHS, B. RATHKOLB, D. SOEWARTO et al., 2000 Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat. Genet. 25: 444-447.
19. JONES, N. J., R. Cox and J. THACKER, 1987 Isolation and cross-sensitivity of X-ray-sensitive mutants of V79-4 hamster cells. Mutat. Res. 183: 279-286.
20. JONES, N. J., R. COX and J. THACKER, 1988 Six complementation groups for ionising-radiation sensitivity in Chinese hamster cells. Mutat. Res. 193: 139-144.
21. JUSTICE, M. J., 1999 Mutagenesis of the mouse germline, pp. 185-215 in Mouse Genetics and Transgenics: A Practical Approach, edited by I. JACKSON and C. ABBOTT. Oxford University Press, Oxford.
22. JUSTICE, M. J., J. K. NOVEROSKE, J. S. WEBER, B. ZHENG and A. BRADLEY, 1999 Mouse ENU mutagenesis. Hum. Mol. Genet. 8: 1955-1963.
23. KARRAN, P., 2000 DNA double strand break repair in mammalian cells. Curr. Opin. Genet. Dev. 10: 144-150.
24. KHANNA, K. K., and S. P. JACKSON, 2001 DNA double-strand breaks: signaling, repair and the cancer connection. Nat. Genet. 27: 247-254.
25. KRAAKMAN-VAN DER ZWET, M., W. J. OVERKAMP, R. E. VAN LANGE, J. ESSERS, A. VAN DUIJN-GOEDHART et al., 2002 Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions. Mol. Cell. Biol. 22: 669-679.
26. LENGAUER, C., K. W. KINZLER and B. VOGELSTEIN, 1998 Genetic instabilities in human cancers. Nature 396: 643-649.
27. LEONHARDT, E. A., D. S. HENDERSON, J. E. RINEHART and J. B. BOYD, 1993 Characterization of the mus308 gene in Drosophila melanogaster. Genetics 133: 87-96.
28. MAGA, G., I. SHEVELEV, K. RAMADAN, S. SPADARI and U. HUBSCHER, 2002 DNA polymerase theta purified from human cells is a high-fidelity enzyme. J. Mol. Biol. 319: 359-369.
29. MARINI, F., and R. D. WOOD, 2002 A human DNA helicase homologous to the DNA cross-link sensitivity protein Mus308. J. Biol. Chem. 277: 8716-8723.
30. MARKER, P. C., K. SEUNG, A. E. BLAND, L. B. RUSSELL and D. M. KINGSLEY, 1997 Spectrum of Bmp5 mutations from germline mntagenesis experiments in mice. Genetics 145: 435-443.
31. MARX, J., 2002 Debate surges over the origins of genomic defects in cancer. Science 297: 544-546.
32. MCHUGH, P. J., V. J. SPANSWICK and J. A. HARTLEY, 2001 Repair of DNA interstrand crosslinks: molecular mechanisms and clinical relevance. Lancet Oncol. 2: 483-490.
33. MEYN, M. S., 1999 Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. Clin. Genet. 55: 289-304.
34. MORITA, T., N. ASANO, T. AWOGI, Y. F. SASAKI, S. SATO et al., 1997 Evaluation of the rodent micronucleus assay in the screening of IARC carcinogens (groups 1, 2A and 2B): the summary report of the 6th collaborative study by CSGMT/JEMS MMS. Collaborative Study of the Micronucleus Group Test. Mammalian Mutagenicity Study Group. Mutat. Res. 389: 3-122.
35. MULLER, C., P. CALSOU, P. FRIT and B. SALLES, 1999 Regulation of the DNA-dependent protein kinase (DNA-PK) activity in eukaryotic cells. Biochimie 81: 117-125.
36. NUSSE, M., B. M. MILLER, S. VIAGGI and J. GRAWE, 1996 Analysis of the DNA content distribution of micronuclei using flow sorting and fluorescent in situ hybridization with a centromeric DNA probe. Mutagenesis 11: 405-413.
37. PEACE, B. E., G. LIVINGSTON, E. B. SILBERSTEIN and J. C. LOPER, 1999 A case of elevated spontaneous micronuclens frequency derived from chromosome 2. Mutat. Res. 430: 109-119.
38. SALAMONE, M. F., and K. H. MAVOURNIN, 1994 Bone marrow micronucleus assay: a review of the mouse stocks used and their published mean spontaneous micronucleus frequencies. Environ. Mol. Mutagen. 23: 239-273.
39. SCHIMENTI, J., and M. BUCAN, 1998 Functional genomics in the mouse: phenotype-based mutagenesis screens. Genome Res. 8: 698-710.
40. SCOTT, D., J. B. BARBER, A. R. SPREADBOROUGH, W. BURRILL and S. A. ROBERTS, 1999 Increased chromosomal radiosensitivity in breast cancer patients: a comparison of two assays. Int. J. Radiat. Biol. 75: 1-10.
41. SERKE, S., and D. HUHN, 1992 Identification of CD71 (transferrin receptor) expressing erythrocytes by multiparameter-flow-cytometry (MP-FCM): correlation to the quantitation of reticulocytes as determined by conventional microscopy and by MP-FCM using a RNA-staining dye. Br. J. Haematol. 81: 432-439.
42. SHARIEF, F. S., P. J. VOJTA, P. A. ROPP and W. C. COPELAND, 1999 Cloning and chromosomal mapping of the human DNA polymerase theta (POLQ), the eighth human DNA polymerase. Genomics 59: 90-96.
43. SHEN, S. X., Z. WEAVER, X. XU, C. LI, M. WEINSTEIN et al., 1998 A targeted disruption of the murine Brcal gene causes gammairradiation hypersensitivity and genetic instability. Oncogene 17: 3115-3124.
44. THACKER, J., 1999 The role of homologous recombination processes in the repair of severe forms of DNA damage in mammalian cells. Biochimie 81: 77-85.
45. THOMPSON, L. H., and D. SCHILD, 1999 The contribution of homologous recombination in preserving genome integrity in mammalian cells. Biochimie 81: 87-105.
46. THOMPSON, L. H., and D. SCHILD, 2001 Homologous recombinational repair of DNA ensures mammalian chromosome stability. Mutat. Res. 477: 131-153.
47. THOMPSON, L. H., K. W. BROOKMAN, L. E. DILLEHAY, A. V. CARRANO, J. A. MAZRIMAS et al., 1982 A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary, baseline frequency of sister-chromatid exchange. Mutat. Res. 95: 427-440.
48. TOROUS, D. K., N. E. HALL, S. D. DERTINGER, M. S. DIEHL, A. H. ILLILOVE et al., 2001 Flow cytometric enumeration of micronucleated reticulocytes: high transferability among 14 laboratories. Environ. Mol. Mutagen. 38: 59-68.
49. TOSAL, L., M. A. COMENDADOR and L. M. SIERRA, 2000 The mus308 locus of Drosophila melanogaster is implicated in the bypass of ENU-induced O-alkylpyrimidine adducts. Mol. Gen. Genet. 263: 144-151.
50. TRUETT, G. E., P. HEEGER, R. L. MYNATT, A. A. TRUETT, J. A. WALKER et al., 2000 Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT). Biotechniques 29: 52-54.
51. TUTT, A., A. GABRIEL, D. BERTWISTLE, F. CONNOR, H. PATERSON et al., 1999 Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification. Curr. Biol. 9: 1107-1110.
52. VAN BRABANT, A. J., R. STAN and N. A. ELLIS, 2000 DNA helicases, genomic instability, and human genetic disease. Annu. Rev. Genomics Hum. Genet. 1: 409-459.
53. VAN GENT, D. C., J. H. HOEIJMAKERS and R. KANAAR, 2001 Chromosomal stability and the DNA double-stranded break connection. Nat. Rev. Genet. 2: 196-206.
54. VAN KREIJL, C. F., P. A. MCANULTY, R. B. BEEMS, A. VYNCKIER, H. VAN STEEG et al., 2001 Xpa and Xpa/p53+/- knockout mice: overview of available data. Toxicol. Pathol. 29: 117-127.
55. VENKITARAMAN, A. R., 2002 Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108: 171-182.
56. WANG, X., C. A. PETERSON, H. ZHENG, R. S. NAIRN, R. J. LEGERSKI et al., 2001 Involvement of nucleotide excision repair in a recombination-independent and error-prone pathway of DNA interstrand cross-link repair. Mol. Cell. Biol. 21: 713-720.
57. WIJNHOVEN, S. W., H. J. KOOL, L. H. MULLENDERS, A. A. VAN ZEELAND, E. C. FRIEDBERG et al., 2000 Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Oncogene 19: 5034-5037.
58. XU, X., K. U. WAGNER, D. LARSON, Z. WEAVER, C. LI et al., 1999 Conditional mutation of Brca1 in mammary, epithelial cells results in blunted ductal morphogenesis and tumour formation. Nat. Genet. 22: 37-43.
59. YANG, Y., Y. KUANG, R. M. DE OCA, T. HAYS, L. MOREAU et al., 2001 Targeted disruption of the murine Fanconi anemia gene, Fancg/ Xrcc9. Blood 98: 3435-3440.
60. ZDZIENICKA, M. Z., 1999 Mammalian X-ray-sensitive mutants which are defective in non-homologous (illegitimate) DNA doublestrand break repair. Biochimie 81: 107-116.