High-frequency illegitimate integration of transfected DNA at preintegrated target sites in a mammalian genome

Molecular and Cellular Biology

Volumn 16, Issue 1, 1996, Pages 10-18

  Merrihew, Raymond V ^a   Marburger, K ^a   Pennington, Sandra L ^b   Roth, David B ^a   Wilson, John H ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Fred Hutchinson Cancer Research Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIA;

DNA;

ANIMAL CELL; ARTICLE; CHO CELL; DNA DETERMINATION; DNA TRANSFECTION; GENE SEQUENCE; GENE TARGETING; GENOME; MAMMAL; NONHUMAN; PRIORITY JOURNAL;

ADENINE PHOSPHORIBOSYLTRANSFERASE; ANIMAL; BASE SEQUENCE; CHO CELLS; DNA; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; GENE REARRANGEMENT; GENOME; HAMSTERS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC; SUPPORT, U.S. GOV'T, P.H.S.; TRANSFECTION;

EID: 0029655281     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.16.1.10     Document Type: Article

References (77)

1. Adair, G. M., J. H. Carver, and D. L. Wandress. 1980. Mutagenicity testing in mammalian cells. I. Derivation of a Chinese hamster ovary cell line heterozygous for the adenine phosphoribosyltransferase and thymidine kinase loci. Mutat. Res. 72:187-205.
2. Adair, G. M., R. S. Nairn, J. H. Wilson, M. M. Seidman, K. A. Brotherman, C. MacKinnon, and J. B. Scheerer. 1989. Targeted homologous recombination at the endogenous adenine phosphoribosyltransferase locus in Chinese hamster cells Proc. Natl Acad. Sci. USA 86:4574-4578.
3. Adair, G. M., R. L. Stallings, R. S. Nairn, and M. J. Siciliano. 1983. High-frequency structural gene deletion as the basis for functional hemizygosity of the adenine phosphoribosyltransferase locus in Chinese hamster ovary cells. Proc. Natl. Acad. Sci. USA 80:5961-5964
4. Allen, M. J., A. J. Jeffreys, M. A. Surani, S. Barton, M. L. Norris, and A. Collick. 1994. Tandemly repeated transgenes of the human minisatellite MS32 (D1S8), with novel mouse gamma satellite integration Nucleic Acids Res 22:2976-2981.
5. Aratani, Y., R. Okazaki, and H. Koyama. 1992. End extension repair of introduced targeting vectors mediated by homologous recombination in mammalian cells Nucleic Acids Res. 20:4795-4801.
6. Barsh, G. S., C. L. Roush, J. Bonadio, P. H. Byers, and R. E. Gelinas. 1985. Intron-mediated recombination may cause a deletion in an α1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc. Natl Acad. Sci. USA 82:2870-2874.
7. Bernatowicz, L. F., X.-M. Li, R. Carrozzo, A. Ballabio, T. Mohandas, P. H. Yen, and L. J. Shapiro. 1992. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints Genomics, 13:892-893
8. Botchan, M., W. Topp, and J. Sambrook. 1978. Studies on simian virus 40 excision from cellular chromosomes. Cold Spring Harbor Symp. Quant Biol. 43:709-719.
9. Breimer, L. H., J. Nalbantoglu, and M. Meuth. 1986. Structure and sequence of mutations induced by ionizing radiation at selectable loci in Chinese hamster ovary cells J. Mol Biol. 192:669-674.
10. Capecchi, M. R. 1980. High efficiency transformation by direct microinjection of DNA into cultured mammalian cells Cell 22:479-488.
11. Seattle I. Am J Hum. Genet. 47:1020-1022
12. Chu, G., H. Hayakawa, and P. Berg. 1987. Electroporation for the efficient transfection of mammalian cells with DNA Nucleic Acids Res 15:1311-1326.
13. Chu, M.-L., V. Gargiulo, C. J. Williams, and F. Ramirez. 1985. Multiexon deletion in an osteogenesis imperfecta variant with increased Type III collagen mRNA. J Biol. Chem 260:691-694.
14. De Jong, P. J., A. J. Grosovsky, and B. W. Glickman. 1988 Spectrum of spontaneous mutation at the APRT locus of Chinese hamster ovary cells: an analysis at the DNA sequence level Proc. Natl Acad. Sci. USA 85:3499-3503.
15. Esumi, H., Y. Takahashi, S. Sato, S. Nagase, and T. Sugimura. 1983. A seven-base-pan deletion in an intron of the albumin gene of analbuminemic rats. Proc. Natl. Acad. Sci USA 80:95-99.
16. Figueiredo, M. S., M. H. Tavella, and B. P. Simoes. 1994. Large DNA inversions, deletions, and Taq1 site mutations in severe haemophilia A. Hum. Genet 94:473-478.
17. Aγδβ)○-thalassemia deletion breakpoint suggests a common mechanism for a number of such recombination events. Genomics 8:732-735.
18. Folger, K. R., E. A. Wong, G. M. Wahl, and M. R. Capecchi. 1982. Patterns of integration of DNA microinjected into cultured mammalian cells: evidence for homologous recombination between injected plasmid DNA molecules. Mol. Cell. Biol. 2:1372-1387.
19. Fuscoe, J. C., L. J. Zimmerman, K. Harrington-Brock, and M. M. Moore. 1994. Deletion mutations in the hprt gene of T-lymphocytes as a biomarker for genomic rearrangements important in human cancers. Carcinogenesis 15:1463-1466.
20. Gilliam, A. C., A. Shen, J. E. Richards, F. R. Blattner, J. F. Mushinski, and P. W. Tucker. 1984 Illegitimate recombination generates a class switch from Cμ to Cδ in an IgD-secreting plasmacytoma. Proc Natl. Acad. Sci. USA 81: 4161-4168.
21. Goldberg, S. Z., D. Kuebbing, D. Trauber, M. P. Schafer, S. E. Lewis, R. A. Popp, and W. F. Anderson. 1986. A 66-base pair insert bridges the deletion responsible for a mouse model of β-thalasscmia. J. Biol. Chem. 261:12368-12374.
22. Greger, V., E. Woolf, and M. Lalande. 1993. Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Hum. Mol. Genet. 2:921-924
23. Hamada, T., H. Sasaki, R. Seki, and Y. Sakaki. 1993. Mechanism of chromosomal integration of transgenes in microinjected mouse eggs: sequence analysis of genome-transgene and transgene-transgene junctions at two loci. Gene 128:197-202
24. Hartwell, L. 1992. Defects in a cell cycle checkpoint may be responsible for the genomic instability of cancer cells. Cell 71:543-546.
25. Henthorn, P. S., O. Smithies, and D. L. Mager. 1990. Molecular analysis of deletions in the human β-globin gene cluster: deletion junctions and locations of breakpoints Genomics 6:226-237
26. Hunter, D. J., and E. G. Gurney. 1994. The genomic instability associated with integrated simian virus 40 DNA is dependent on the origin of replication and early control region. J. Virol. 68:787-796
27. Kato, S., R. A. Anderson, and R. D. Camerini-Otero. 1986. Foreign DNA introduced by calcium phosphate is integrated into repetitive DNA elements of the mouse L genome. Mol. Cell. Biol. 6:1787-1795.
28. Kiba, T., H. Tsuda, C. Puirojkul, S. Inoue, T. Sugimura, and S. Hirohashi. 1993. Mutations of the p53 tumor suppressor gene and the ras gene family in intrahepatic cholangiocellular carcinomas in Japan and Thailand. Mol. Carcinog. 8:312-318.
29. Kootstra, A., L. K. Lew, R. S. Nairn, and M. C. MacLeod. 1989. Preferential modification of GC boxes by benzo'a:pyrene-7,8-diol-9,10-epoxide. Mol. Carcinog 1:239-244.
30. Laquerbe, A., E. Moustacchi, J. C. Fuscoe, and D. Papadopoulo. 1995. The molecular mechanism underlying formation of deletions in Fanconi anemia cells may involve a site-specific recombination. Proc. Natl. Acad. Sci. USA 92:831-835
31. Lieber, M. R. 1992. The mechanism of V(D)J recombination: a balance of diversity, specificity, and stability. Cell 70:873-876.
32. Marchuk, D., M. Drumm, A. Saulino, and F. S. Collins. 1991 Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products Nucleic Acids Res. 19:1154.
33. Mark, W. H., K. Signorelli, M. Blum, L. Kwee, and E. Lacy. 1992. Genomic structure of the locus associated with an insertional mutation in line 4 transgenic mice Genomics 13:159-166.
34. Merrihew, R. V., R. G. Sargent, and J. H. Wilson. Efficient modification of the APRT gene by FLP/FRT site-specific targeting Somatic Cell Mol. Genet , in press.
35. Meuth, M. 1989 Illegitimate recombination in mammalian cells, p. 833-860 In D E. Berg and M. M. Howe (ed.). Mobile DNA. American Society for Microbiology, Washington, D C.
36. Miles, C., G. Sargent, G. Phear, and M. Meuth. 1990. DNA sequence analysis of gamma radiation-induced deletions and insertions at the APRT locus of hamster cells. Mol. Carcinog 3:233-242.
37. Molineaux, S. M., H. Engh, F. de Ferra, L. Hudson, and R. A. Lazzarini. 1986. Recombination within the myelin basic protein gene created the dysmyelinating shiverer mouse mutation. Proc Natl. Acad. Sci. USA 83:7542-7546
38. Monnat, R. J., A. F. M. Hackman, and T. A. Chiaverotti. 1992. Nucleotide sequence analysis of human hypoxanthine phosphoribosyltansferase (HPRT) gene deletions. Genomics 13:777-787.
39. Morris, T., and J. Thacker. 1993 Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts Proc Natl. Acad Sci. USA 90:1392-1396.
40. Mulligan, R. C., and P. Berg. 1980 Expression of a bacterial gene in mammalian cells Science 209:1422-1427
41. Murnane, J. P., M. J. Yezzi, and B. R. Young. 1990. Recombination events during integration of transfected DNA into normal human cells. Nucleic Acids Res. 18:2733-2738.
42. Nairn, R. S., R. M. Humphrey, and G. M. Adair. 1988. Transformation of UV-hypersensitive Chinese hamster ovary cell mutants with UV-irradiated plasmids. Int. J. Radiat. Biol. 53:249-260.
43. Nalbantoglu, J., D. Hartley, G. Phear, G. Tear, and M. Meuth. 1986. Spontaneous deletion formation at the apit locus of hamster cells: the presence of short sequence homologies and dyad symmetries at deletion termini. EMBO J 5:1199-1204.
44. Nalbantoglu, J., C. Miles, and M. Meuth. 1988. Insertion of unique and repetitive DNA fragments into the aprt locus of hamster cells. J. Mol. Biol. 200:449-459.
45. Nalbantoglu, J., G. Phear, and M. Meuth. 1987. DNA sequence analysis of spontaneous mutations at the aprt locus of hamster cells. Mol. Cell. Biol 7: 1445-1449.
46. Nalbantoglu, J., G. A. Phear, and M. Meuth. 1986 Nucleotide sequence of the hamster adenine phosphoribosyl transferase (aprt) gene. Nucleic Acids Res. 14:1914.
47. Ochman, H., M. M. Medhora, D. Garza, and D. L. Hartl. 1990 Amplification of flanking sequences by inverse PCR, p 219-236. In M. A. Innis, D. H. Gelfand, J. J. Sninsky, and T. J. White (ed.), PCR protocols. Academic Press. Inc., San Diego, Calif.
48. O'Gorman, S., D. T. Fox, and G. M. Wahl. 1991. Recombinase-mediated gene activation and site-specific integration in mammalian cells. Science 251: 1351-1355.
49. δ locus accompanies Cμ deletion and switch to immunoglobulin D secretion. Mol. Cell. Biol. 11:5660-5670.
50. Palmiter, R. D., T. M. Wilkie, H. Y. Chen, and R. L. Brinster. 1984. Transmission distortion and mosaicism in an unusual transgenic mouse pedigree. Cell 36:869-877.
51. Peretz, H., N. Rosenberg, S. Usher, E. Graff, P. J. Newman, B. S. Coller, and U. Seligsohn, 1995. Glanzmann s thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene. Blood 85: 414-420
52. Pfeiffer, P., S. Thode, J. Hancke, and W. Vielmetter. 1994. Mechanisms of overlap formation in nonhomologous DNA end joining. Mol Cell. Biol 14: 888-895
53. Phillips, J. W., and W. F. Morgan. 1994. Illegitimate recombination induced by DNA double-strand breaks in a mammalian chromosome. Mol. Cell Biol. 14:5794-5803.
54. Pomykala, H. M., S. K. Bohlander, P. L. Broeker, O. I. Olopade, and M. O. Diaz. 1994. Breakpoint junctions of chromosome 9p deletions in two human glioma cell lines. Mol. Cell. Biol. 14:7604-7610.
55. Porter, T., S. L. Pennington, G. M. Adair, R. S. Nairn, and J. H. Wilson. 1990. A novel selection system for recombinational and mutational events within an intron of a eucaryotic gene. Nucleic Acids Res. 18:5173-5180
56. Pulkkinen, L., A. M. Christiano, T. Airenne, H. Haakana, K. Tryggvason, and J. Uitto. 1994. Mutations in the γ2 chain gene (LAMC2) of kalinin/ laminin 5 in the junctional forms of epidermolysis bullosa. Nat. Genet. 6: 293-297
57. Rassool, F. V., T. W. McKeithan, M. E. Neilly, E. van Melle, R. Espinosa, and M. M. Le Beau. 1991 Preferential integration of marker DNA into the chromosomal fragile site at 3p14: an approach to cloning fragile sites. Proc Natl. Acad. Sci. USA 88:6657-6661.
58. Robins, D. M., S. Ripley, A. S. Henderson, and R. Axel. 1981. Transforming DNA integrates into the host chromosome. Cell 23:29-39.
59. Roth, D. B., X.-B. Chang, and J. H. Wilson. 1989. Comparison of filler DNA at immune, nonimmune, and oncogene rearrangements suggests multiple mechanisms of formation Mol. Cell. Biol 9:3049-3057
60. Roth, D. B., T. N. Porter, and J. H. Wilson. 1985. Mechanisms of nonhomologous recombination in mammalian cells Mol. Cell. Biol 5:2599-2607.
61. Roth, D. B., and J. H. Wilson. 1986. Nonhomologous recombination in mammalian cells. Mol Cell. Biol. 6:4295-4304.
62. Roth, D. B., and J. H. Wilson. 1988. Illegitimate recombination in mammalian cells, p. 621-654 In R. Kucherlapati and G R. Smith (ed.), Genetic recombination, American Society for Microbiology, Washington, D.C.
63. Rouet, P., F. Smih, and M. Jasin. 1994. Introduction of double-strand breaks into the genome of mouse cells by expression of a rare-cutting endonuclease. Mol Cell. Biol. 14:8096-8106.
64. Rovinski, B., D. Munroe, J. Peacock, M. Mowat, A. Bernstein, and S. Benchimol. 1987. Deletion of 5′-coding sequences of the cellular p53 gene in mouse erythroleukemia: a novel mechanism or oncogene regulation. Mol. Cell. Biol 7:847-853.
65. Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989 Molecular cloning a laboratory manual, 2nd ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, N.Y.
66. Sargent, R. G., G. Phear, and M. Meuth. 1989. Deletion formation in mammalian cells molecular analysis of breakpoints and junctions in the hamster aprt locus New Biol 1:205-213.
67. Schluter, G., and U. Wick. 1994. An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia Clin. Genet. 45:84-87.
68. Shapiro, L. J., P. Yen, D. Pomerantz, E. Martin, L. Rolewic, and T. Mohandas. 1989. Molecular studies of deletions at the human steroid sulfatase locus Proc. Natl. Acad. Sci. USA 86:8477-8481
69. Streisinger, G., Y. Okada, J. Emrich, J. Newton, A. Tsugita, E. Terzaghi, M. Inouye. 1966. Frameshift mutations and the genetic code. Cold Spring Harbor Symp. Quant. Biol. 31:77-84.
70. 201 and radiation-induced dilute prenatal lethal Aa2 alleles. Mol. Cell. Biol. 10:501-509.
71. Sutcliffe, J. G. 1979. Complete nucleotide sequence of the Escherichia coli plasmid pBR322. Cold Spring Harbor Symp. Quant. Biol. 43:77-90.
72. Thomas, J. W., B. C. Holdener, and T. Magnuson. 1994. Sequence analysis of a radiation-induced deletion breakpoint fusion in mouse. Mamm. Genome 5:518-519
73. Thomas, K. R., and M. R. Capecchi. 1987. Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells Cell 51:503-512
74. Wiberg, F., P. Sunnerhagen, and G. Bjursell. 1986. New, small circular DNA in transfected mammalian cells. Mol. Cell Biol 6:653-662.
75. Wichman, H. A., R. A. van den Bussche, M. J. Hamilton, and R. J. Baker. 1992. Transposable elements and the evolution of genome organization in mammals. Genetica (Dordrecht) 86:287-293.
76. Wilkie, T. M., and R. D. Palmiter. 1987. Analysis of the integrant in MyK-103 transgenic mice in which males fail to transmit the integrant. Mol. Cell Biol. 7:1646-1655.
77. Woods-Samuels, P., H. H. Kazazian, and S. E. Antonarakis. 1991. Nonhomologous recombination in the human genome: deletions in the human factor VII gene Genomics 10:94-101