Site-specific integration by the adeno-associated virus rep protein

Current Gene Therapy

Volumn 11, Issue 5, 2011, Pages 399-405

  Recchia, Alessandra ^a   Mavilio, Fulvio ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

AAV; AAVS1; Hybrid AAV vectors; MBS85; Rep; Targeted integration

Indexed keywords

ADENOVIRUS VECTOR; HELICASE;

ARTICLE; CHROMOSOME 19; GENE CASSETTE; GENE EXPRESSION; GENE INSERTION; GENE REPLICATION; GENE TRANSFER; GENETIC TRANSFECTION; HUMAN; INVERTED TERMINAL REPEAT; NONHUMAN; TRANSGENICS; VIRAL GENE DELIVERY SYSTEM; VIRUS REPLICATION;

ADENO-ASSOCIATED VIRUS; MAMMALIA;

EID: 80053482793     PISSN: 15665232     EISSN: 18755631     Source Type: Journal    
DOI: 10.2174/156652311797415809     Document Type: Article

References (60)

1. Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clinical Invest 2008; 118(9): 3132-42.
2. Howe SJ, Mansour MR, Schwarzwaelder K, et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clinical Invest 2008; 118(9): 3143-50.
3. Stein S, Ott MG, Schultze-Strasser S, et al. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nature medicine 2010; 16(2): 198-204.
4. Cavazzana-Calvo M, Payen E, Negre O, et al. Transfusion independence and HMGA2 activation after gene therapy of human beta-thalassaemia. Nature 2010; 467(7313): 318-22.
5. Urnov FD, Rebar EJ, Holmes MC, Zhang HS, Gregory PD. Genome editing with engineered zinc finger nucleases. Nat Rev 2010; 11(9): 636-46.
6. Henckaerts E, Linden RM. Adeno-associated virus: a key to the human genome? Future Virol 2010; 5(5): 555-74.
7. Ginsburg DS, Calos MP. Site-specific integration with phiC31 integrase for prolonged expression of therapeutic genes. Adv Genet 2005; 54: 179-87.
8. Tan W, Dong Z, Wilkinson TA, Barbas CF, Chow SA. Human immunodeficiency virus type 1 incorporated with fusion proteins consisting of integrase and the designed polydactyl zinc finger protein E2C can bias integration of viral DNA into a predetermined chromosomal region in human cells. J Virol 2006; 80(4): 1939-48.
9. Ivics Z, Katzer A, Stuwe EE, Fiedler D, Knespel S, Izsvak Z. Targeted Sleeping Beauty transposition in human cells. Mol Ther 2007; 15(6): 1137-44.
10. Gorbalenya AE, Koonin EV, Wolf YI. A new superfamily of putative NTP-binding domains encoded by genomes of small DNA and RNA viruses. FEBS Lett 1990 12; 262(1): 145-8.
11. James JA, Escalante CR, Yoon-Robarts M, Edwards TA, Linden RM, Aggarwal AK. Crystal structure of the SF3 helicase from adeno-associated virus type 2. Structure 2003 Aug; 11(8): 1025-35.
12. Yang Q, Kadam A, Trempe JP. Mutational analysis of the adenoassociated virus rep gene. J Virol 1992; 66(10): 6058-69.
13. Hickman AB, Ronning DR, Perez ZN, Kotin RM, Dyda F. The nuclease domain of adeno-associated virus rep coordinates replication initiation using two distinct DNA recognition interfaces. Mol Cell 2004; 13(3): 403-14.
14. Im DS, Muzyczka N. The AAV origin binding protein Rep68 is an ATP-dependent site-specific endonuclease with DNA helicase activity. Cell 1990; 61(3): 447-57.
15. Yoon-Robarts M, Linden RM. Identification of active site residues of the adeno-associated virus type 2 Rep endonuclease. J Biol Chem 2003; 278(7): 4912-8.
16. Kotin RM, Siniscalco M, Samulski RJ, et al. Site-specific integration by adeno-associated virus. Proceedings of the National Academy of Sciences of the United States of America 1990; 87(6): 2211-5.
17. Samulski RJ, Zhu X, Xiao X, et al. Targeted integration of adenoassociated virus (AAV) into human chromosome 19. EMBO J 1991; 10(12): 3941-50.
18. McCarty DM, Young SM, Samulski RJ. Integration of adenoassociated virus (AAV) and recombinant AAV vectors. Annu Rev Genet 2004; 38: 819-45.
19. Huser D, Weger S, Heilbronn R. Kinetics and frequency of adenoassociated virus site-specific integration into human chromosome 19 monitored by quantitative real-time PCR. J Virol 2002; 76(15): 7554-9.
20. Kotin RM, Linden RM, Berns KI. Characterization of a preferred site on human chromosome 19q for integration of adeno-associated virus DNA by non-homologous recombination. EMBO J 1992; 11(13): 5071-8.
21. Lamartina S, Sporeno E, Fattori E, Toniatti C. Characteristics of the adeno-associated virus preintegration site in human chromosome 19: open chromatin conformation and transcriptioncompetent environment. J Virol 2000; 74(16): 7671-7.
22. Tan I, Ng CH, Lim L, Leung T. Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton. J Biol Chem 2001; 276(24): 21209-16.
23. Huser D, Gogol-Doring A, Lutter T, et al. Integration preferences of wildtype AAV-2 for consensus rep-binding sites at numerous loci in the human genome. PLoS pathogens. 2010; 6(7): e1000985.
24. Berns KI, Linden RM. The cryptic lyfe style of adeno-associated virus. Bioessays 1995; 17: 237-45.
25. Daya S, Cortez N, Berns KI. Adeno-associated virus site-specific integration is mediated by proteins of the nonhomologous endjoining pathway. J Virol 2009; 83(22): 11655-64.
26. Yamamoto N, Suzuki M, Kawano MA, et al. Adeno-associated virus site-specific integration is regulated by TRP-185. J Virol 2007; 81(4): 1990-2001.
27. Smith JR, Maguire S, Davis LA, et al. Robust, persistent transgene expression in human embryonic stem cells is achieved with AAVS1-targeted integration. Stem cells (Dayton, Ohio). 2008; 26(2): 496-504.
28. Ogata T, Kozuka T, Kanda T. Identification of an insulator in AAVS1, a preferred region for integration of adeno-associated virus DNA. J Virol 2003; 77(16): 9000-7.
29. Hockemeyer D, Soldner F, Beard C, et al. Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zincfinger nucleases. Nat Biotechnol 2009; 27(9): 851-7.
30. DeKelver RC, Choi VM, Moehle EA, et al. Functional genomics, proteomics, and regulatory DNA analysis in isogenic settings using zinc finger nuclease-driven transgenesis into a safe harbor locus in the human genome. Genome Research 2010; 20(8): 1133-42.
31. Dutheil N, Henckaerts E, Kohlbrenner E, Linden RM. Transcriptional analysis of the adeno-associated virus integration site. J Virol 2009; 83(23): 12512-25.
32. Surosky RT, Urabe M, Godwin SG, et al. Adeno-associated virus Rep proteins target DNA sequences to a unique locus in the human genome. J Virol 1997; 71: 7951-9.
33. Palombo F, Monciotti A, Recchia A, Cortese R, Ciliberto G, La Monica N. Site-specific integration in mammalian cells mediated by a new hybrid baculovirus-adeno-associated virus vector. J Virol 1998; 72(6): 5025-34.
34. Recchia A, Parks RJ, Lamartina S, et al. Site-specific integration mediated by a hybrid adenovirus/adeno-associated virus vector. Proceedings of the National Academy of Sciences of the United States of America 1999; 96(6): 2615-20.
35. Heister T, Heid I, Ackermann M, Fraefel C. Herpes simplex virus type 1/adeno-associated virus hybrid vectors mediate site-specific integration at the adeno-associated virus preintegration site, AAVS1, on human chromosome 19. J Virol 2002; 76(14): 7163-73.
36. Wang Y, Camp SM, Niwano M, et al. Herpes simplex virus type 1/adeno-associated virus rep(+) hybrid amplicon vector improves the stability of transgene expression in human cells by site-specific integration. J Virol 2002; 76(14): 7150-62.
37. Philpott NJ, Gomos J, Berns KI, Falck-Pedersen E. A p5 integration efficiency element mediates Rep-dependent integration into AAVS1 at chromosome 19. Proceedings of the National Academy of Sciences of the United States of America 2002; 99(19): 12381-5.
38. Philpott NJ, Giraud-Wali C, Dupuis C, et al. Efficient integration of recombinant adeno-associated virus DNA vectors requires a p5- rep sequence in cis. J Virol 2002; 76(11): 5411-21.
39. Guilbaud M, Chadeuf G, Avolio F, et al. Relative influence of the adeno-associated virus (AAV) type 2 p5 element for recombinant AAV vector site-specific integration. J Virol 2008; 82(5): 2590-3.
40. Hermonat PL. Inhibition of bovine papillomavirus plasmid DNA replication by adeno-associated virus. Virology 1992; 189: 329-33.
41. Weitzman MD, Fisher KJ, Wilson JM. Recruitment of wild-type and recombinant adeno-associated virus into adenovirus replication centers. J Virol 1996; 70: 1845-54.
42. Recchia A, Perani L, Sartori D, Olgiati C, Mavilio F. Site-specific integration of functional transgenes into the human genome by adeno/AAV hybrid vectors. Mol Ther 2004; 10: 660-70.
43. Freundlieb S, Schirra-Muller C, Bujard H. A tetracycline controlled activation/repression system with increased potential for gene transfer into mammalian cells. J Gene Med 1999; 1(1): 4-12.
44. Rizzuto G, Gorgoni B, Cappelletti M, et al. Development of animal models for adeno-associated virus site-specific integration. J Virol 1999; 73(3): 2517-26.
45. Goncalves MA, van Nierop GP, Tijssen MR, et al. Transfer of the full-length dystrophin-coding sequence into muscle cells by a dual high-capacity hybrid viral vector with site-specific integration ability. J Virol 2005; 79(5): 3146-62.
46. Goncalves MA, Holkers M, Cudre-Mauroux C, et al. Transduction of myogenic cells by retargeted dual high-capacity hybrid viral vectors: robust dystrophin synthesis in duchenne muscular dystrophy muscle cells. Mol Ther 2006; 13(5): 976-86.
47. Liu Q, Perez CF, Wang Y. Efficient site-specific integration of large transgenes by an enhanced herpes simplex virus/adenoassociated virus hybrid amplicon vector. J Virol 2006; 80(4): 1672-9.
48. Wang H, Lieber A. A helper-dependent capsid-modified adenovirus vector expressing adeno-associated virus rep78 mediates sitespecific integration of a 27-kilobase transgene cassette. J Virol 2006; 80(23): 11699-709.
49. Goncalves MA, Holkers M, van Nierop GP, Wieringa R, Pau MG, de Vries AA. Targeted chromosomal insertion of large DNA into the human genome by a fiber-modified high-capacity adenovirusbased vector system. PLoS ONE 2008; 3(8): e3084.
50. Howden SE, Voullaire L, Wardan H, Williamson R, Vadolas J. Site-specific, Rep-mediated integration of the intact beta-globin locus in the human erythroleukaemic cell line K562. Gene Ther 2008; 15(20): 1372-83.
51. Mates L, Chuah MK, Belay E, et al. Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates. Nat Genet 2009; 41(6): 753-61.
52. Yant SR, Ehrhardt A, Mikkelsen JG, Meuse L, Pham T, Kay MA. Transposition from a gutless adeno-transposon vector stabilizes transgene expression in vivo. Nat Biotechnol 2002; 20(10): 999-1005.
53. Olivares EC, Hollis RP, Chalberg TW, Meuse L, Kay MA, Calos MP. Site-specific genomic integration produces therapeutic Factor IX levels in mice. Nat Biotechnol 2002; 20(11): 1124-8.
54. Chen L, Woo SL. Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA. Proceedings of the National Academy of Sciences of the United States of America. 2005; 102(43): 15581-6.
55. Paques F, Duchateau P. Meganucleases and DNA double-strand break-induced recombination: perspectives for gene therapy. Curr Gene Ther 2007 Feb; 7(1): 49-66.
56. Nakai H, Montini E, Fuess S, Storm TA, Grompe M, Kay MA. AAV serotype 2 vectors preferentially integrate into active genes in mice. Nat Gene 2003; 34(3): 297-302.
57. Larcher F, Dellambra E, Rico L, et al. Long-term engraftment of single genetically modified human epidermal holoclones enables safety pre-assessment of cutaneous gene therapy. Mol Ther 2007; 15(9): 1670-6.
58. Schmidt M, Afione S, Kotin RM. Adeno-associated virus type 2 Rep78 induces apoptosis through caspase activation independently of p53. J Virol 2000; 74(20): 9441-50.
59. Young SM, Samulski RJ. Adeno-associated virus (AAV) sitespecific recombination does not require a Rep-dependent origin of replication within the AAV terminal repeat. Proceedings of the National Academy of Sciences of the United States of America 2001; 98(24): 13525-30.
60. Henckaerts E, Dutheil N, Zeltner N, et al. Site-specific integration of adeno-associated virus involves partial duplication of the target locus. Proceedings of the National Academy of Sciences of the United States of America 2009; 106(18): 7571-6.