In vitro functional correction of the mutation responsible for murine severe combined immune deficiency by small fragment homologous replacement

Human Gene Therapy

Volumn 17, Issue 2, 2006, Pages 158-166

  Zayed, Hatem ^a,d   McIvor, R Scott ^b   Wiest, David L ^c   Blazar, Bruce R ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c FOX CHASE CANCER CENTER   (United States)

^d Hematology/Oncology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DEPENDENT PROTEIN KINASE; DNA FRAGMENT; DOUBLE STRANDED DNA; SINGLE STRANDED DNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DNA FLANKING REGION; ENZYME SUBUNIT; GENE MUTATION; GENE REPLACEMENT THERAPY; GENETIC DISORDER; GENETIC RECOMBINATION; IMMUNE RESPONSE; INTRON; IONIZING RADIATION; MOUSE; NONHUMAN; POINT MUTATION; RADIATION DOSE; RADIOSENSITIVITY; SCID MOUSE; THYMOMA;

3' FLANKING REGION; 5' FLANKING REGION; ANIMALS; CATALYTIC DOMAIN; DNA; DNA DAMAGE; DNA, SINGLE-STRANDED; DNA-ACTIVATED PROTEIN KINASE; DOSE-RESPONSE RELATIONSHIP, RADIATION; EXONS; GENE TRANSFER TECHNIQUES; LYMPHOMA, T-CELL; MICE; MICE, SCID; POINT MUTATION; RECOMBINATION, GENETIC; SEQUENCE ANALYSIS, DNA; TUMOR CELLS, CULTURED;

ANIMALIA; MURINAE;

EID: 32944458242     PISSN: 10430342     EISSN: None     Source Type: Journal    
DOI: 10.1089/hum.2006.17.158     Document Type: Article

References (39)

1. AIUTI, A., SLAVIN, S., AKER, M., FICARA, F., DEOLA, S., MORTELLARO, A., MORECKI, S., ANDOLFI, G., TABUCCHI, A., CARLUCCI, F., MARINELLO, E., CATTANEO, F., VAI, S., SERVIDA, P., MINIERO, R., RONCAROLO, M., and BORDIGNON, C. (2002). Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296, 2410-2413.
2. ARAKI, R., FUJIMORI, A., HAMATANI, K., MITA, K., SAITO, T., MORI, M., FUKUMURA, R., MORIMYO, M., MUTO, M., ITOH, M., TATSUMI, K., and ABE, M. (1997). Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. Proc. Natl. Acad. Sci. U.S.A. 94, 2438-2443.
3. BARLOW, C., ECKHAUS, M., SCHAFFER, A., and WYNSHAW BORIS, A. (1999). Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice. Nat. Genet. 21, 359-360.
4. CAPECCHI, M. (1989). The new mouse genetics: Altering the genome by gene targeting. Trends Genet. 5, 70-76.
5. CARLETON, M., RUETSCH, N., BERGER, M., RHODES, M., KAPTIK, S., and WIEST, D. (1999). Signals transduced by CD3ε, but not by surface pre-TCR complexes, are able to induce maturation of an early thymic lymphoma in vitro. J. Immunol. 163, 2576-2585.
6. COLLIS, S., DEWEESE, T., JEGGO, P., and PARKER, A. (2005). The life and death of DNA-PK. Oncogene 24, 949-961.
7. COLOSIMO, A., GONCZ, K., NOVELLI, G., DALLAPICCOLA, B., and GRUENERT, D. (2001). Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments. Mol. Ther. 3, 178-185.
8. FERRARA, L., and KMIEC, E. (2004). Camptothecin enhances the frequency of oligonucleotide-directed gene repair in mammalian cells by inducing DNA damage and activating homologous recombination. Nucleic Acids Res. 32, 5239-5248.
9. FERRARA, L., PAREKH OLMEDO, H., and KMIEC, E. (2004). Enhanced oligonucleotide-directed gene targeting in mammalian cells following treatment with DNA damaging agents. Exp. Cell Res. 300, 170-179.
10. FULOP, G., and PHILLIPS, R. (1990). The scid mutation in mice causes a general defect in DNA repair. Nature 347, 479-482.
11. GONCZ, K., KUNZELMANN, K., XU, Z., and GRUENERT, D. (1998). Targeted replacement of normal and mutant CFTR sequences in human airway epithelial cells using DNA fragments. Hum. Mol. Genet. 7, 1913-1919.
12. GONCZ, K., COLOSIMO, A., DALLAPICCOLA, B., GAGNE, L., HONG, K., NOVELLI, G., PAPAHADJOPOULOS, D., SAWA, T., SCHREIER, H., WIENER KRONISH, J., XU, Z., and GRUENERT, D. (2001). Expression of ΔF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR. Gene Ther. 8, 961-965.
13. HABER, J. (2000). Partners and pathways repairing a double-strand break. Trends Genet. 16, 259-264.
14. HACEIN BEY ABINA, S., VON KALLE, C., SCHMIDT, M., MCCORMACK, M., WULFFRAAT, N., LEBOULCH, P., LIM, A., OSBORNE, C., PAWLIUK, R., MORILLON, E., SORENSEN, R., FORSTER, A., FRASER, P., COHEN, J., DE SAINT BASILE, G., ALEXANDER, I., WINTERGERST, U., FREBOURG, T., AURIAS, A., STOPPA LYONNET, D., ROMANA, S., RADFORD WEISS, I., GROSS, F., VALENSI, F., DELABESSE, E., MACINTYRE, E., SIGAUX, F., SOULIER, J., LEIVA, L., WISSLER, M., PRINZ, C., RABBITTS, T., LE DEIST, F., FISCHER, A., and CAVAZZANA CALVO, M. (2003). LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302, 415-419.
15. HALL, E., BRENNER, D., WORGUL, B., and SMILENOV, L. (2005). Genetic susceptibility to radiation. Adv. Space Res. 35, 249-253.
16. HENDRICKSON, E. (1993). The SCID mouse: Relevance as an animal model system for studying human disease. Am. J. Pathol. 143, 1511-1522.
17. HUMPHRIES, L., DANGELMAIER, C., SOMMER, K., KIPP, K., KATO, R., GRIFFITH, N., BAKMAN, I., TURK, C., DANIEL, J., and RAWLINGS, D. (2004). Tec kinases mediate sustained calcium influx via site-specific tyrosine phosphorylation of the phospholipase Cγ Src homology 2-Src homology 3 linker. J. Biol. Chem. 279, 37651-37661.
18. JASIN, M. (1996). Genetic manipulation of genomes with rare-cutting endonucleases. Trends Genet. 12, 224-228.
19. JEGGO, P. (1998). DNA breakage and repair. Adv. Genet. 38, 185-218.
20. JEGGO, P., TACCIOLI, G., and JACKSON, S. (1995). Menage à trois: Double strand break repair, V(D)J recombination and DNA-PK. Bioessays 17, 949-957.
21. JOHNSON, R., and JASIN, M. (2001). Double-strand-break-induced homologous recombination in mammalian cells. Biochem. Soc. Trans. 29, 196-201.
22. KAPSA, R., QUIGLEY, A., LYNCH, G., STEEPER, K., KORNBERG, A., GREGOREVIC, P., AUSTIN, L., and BYRNE, E. (2001). In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. Hum. Gene Ther. 12, 629-642.
23. KAPSA, R., QUIGLEY, A., VADOLAS, J., STEEPER, K., IOANNOU, P., BYRNE, E., and KORNBERG, A. (2002). Targeted gene correction in the mdx mouse using short DNA fragments: Towards application with bone marrow-derived cells for autologous remodeling of dystrophic muscle. Gene Ther. 9, 695-699.
24. KOBAYASHI, S., NISHIMURA, M., SHIMADA, Y., SUZUKI, F., MATSUOKA, A., SAKAMOTO, H., HAYASHI, M., SOFUNI, T., SADO, T., and OGIU, T. (1997). Increased sensitivity of scid heterozygous mice to ionizing radiation. Int. J. Radiat. Biol. 72, 537-545.
25. c-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways. Immunol. Rev. 202, 67-83.
26. KUNZELMANN, K., LEGENDRE, J., KNOELL, D., ESCOBAR, L., XU, Z., and GRUENERT, D. (1996). Gene targeting of CFTR DNA in CF epithelial cells. Gene Ther. 3, 859-867.
27. LANZOV, V. (1999). Gene targeting for gene therapy: Prospects. Mol. Genet. Metab. 68, 276-282.
28. LIANG, F., HAN, M., ROMANIENKO, P., and JASIN, M. (1998). Homology-directed repair is a major double-strand break repair pathway in mammalian cells. Proc. Natl. Acad. Sci. U.S.A. 95, 5172-5177.
29. RAUTH, S., SONG, K., AYARES, D., WALLACE, L., MOORE, P., and KUCHERLAPATI, R. (1986). Transfection and homologous recombination involving single-stranded DNA substrates in mammalian cells and nuclear extracts. Proc. Natl. Acad. Sci. U.S.A. 83, 5587-5591.
30. ROUET, P., SMIH, F., and JASIN, M. (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.
31. SANGIUOLO, F., BRUSCIA, E., SERAFINO, A., NARDONE, A., BONIFAZI, E., LAIS, M., GRUENERT, D., and NOVELLI, G. (2002). In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique. BMC Med. Genet. 3, 8-20.
32. SMIH, F., ROUET, P., ROMANIENKO, P., and JASIN, M. (1995). Double-strand breaks at the target locus stimulate gene targeting in embryonic stem cells. Nucleic Acids Res. 23, 5012-5019.
33. TAGHIAN, D., and NICKOLOFF, J. (1997). Chromosomal double-strand breaks induce gene conversion at high frequency in mammalian cells. Mol. Cell. Biol. 17, 6386-6393.
34. THOMAS, K., and CAPECCHI, M. (1987). Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51, 503-512.
35. TSUCHIYA, H., HARASHIMA, H., and KAMIYA, H. (2004). Increased SFHR gene correction efficiency with sense single-stranded DNA. J. Gene Med. 7, 486-493.
36. URNOV, F., MILLER, J., LEE, Y., BEAUSEJOUR, C., ROCK, J., AUGUSTUS, S., JAMIESON, A., PORTEUS, M., GREGORY, P., and HOLMES, M. (2005). Highly efficient endogenous human gene correction using designed zinc-finger nucleases. Nature 435, 646-651.
37. VALERIE, K., and POVIRK, L. (2003). Regulation and mechanisms of mammalian double-strand break repair. Oncogene 22, 5792-5812.
38. YANEZ, R., and PORTER, A. (1998). Therapeutic gene targeting. Gene Ther. 5, 149-159.
39. ZWAKA, T., and THOMSON, J. (2003). Homologous recombination in human embryonic stem cells. Nat. Biotechnol. 21, 319-321.