K137R Mutation on adeno-associated viral capsids had minimal effect on enhancing gene delivery in vivo

Human Gene Therapy Methods

Volumn 25, Issue 1, 2014, Pages 33-39

  Qiao, Chunping ^a   Li, Chengwen ^b   Zhao, Chunxia ^a,c   Li, Jianbin ^a   Bian, Tao ^a   Grieger, Joshua ^b   Li, Juan ^a   Samulski, R Jude ^b   Xiao, Xiao ^a  

^a UNC Hamner Institute for Drug Safety Sciences   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; BETA GALACTOSIDASE; K 137 R; LUCIFERASE; PARVOVIRUS VECTOR; UNCLASSIFIED DRUG;

ADENO ASSOCIATED VIRUS; ADENO ASSOCIATED VIRUS 7; ADENO ASSOCIATED VIRUS 8; ADENO ASSOCIATED VIRUS 9; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CYTOMEGALOVIRUS; DNA SEQUENCE; ENZYME ACTIVITY; GENE EXPRESSION; IN VIVO GENE TRANSFER; IN VIVO STUDY; MOUSE; MUTATION; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; REPORTER GENE; TRANSGENE; VIRAL GENE DELIVERY SYSTEM; VIRUS CAPSID; VIRUS GENE;

AMINO ACID SUBSTITUTION; ANIMALS; BETA-GALACTOSIDASE; CAPSID PROTEINS; CYTOMEGALOVIRUS; DEPENDOVIRUS; GENE TRANSFER TECHNIQUES; GENES, REPORTER; GENETIC VECTORS; LIVER; LUCIFERASES; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; PROMOTER REGIONS, GENETIC; SEROTYPING; TRANSDUCTION, GENETIC;

EID: 84893407639     PISSN: 19466536     EISSN: 19466544     Source Type: Journal    
DOI: 10.1089/hgtb.2013.176     Document Type: Article

References (42)

1. Asokan, A., Conway, J.C., Phillips, J.L., et al. (2010). Reengineering a receptor footprint of adeno-associated virus enables selective and systemic gene transfer to muscle. Nat. Biotechnol. 28, 79-82.
2. Ayuso, E., Mingozzi, F., Montane, J., et al. (2010). High AAV vector purity results in serotype-and tissue-independent enhancement of transduction efficiency. Gene Ther. 17, 503-510.
3. Bish, L.T., Morine, K., Sleeper, M.M., et al. (2008). Adeno-associated virus (AAV) serotype 9 provides global cardiac gene transfer superior to AAV1, AAV6, AAV7, and AAV8 in the mouse and rat. Hum. Gene Ther. 19, 1359-1368.
4. Bowles, D.E., Mcphee, S.W., Li, C., et al. (2012). Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol. Ther. 20, 443-455.
5. Dalkara, D., Byrne, L.C., Lee, T., et al. (2011). Enhanced gene delivery to the neonatal retina through systemic administration of tyrosine-mutated AAV9. Gene Ther. 19, 176-181.
6. Daya, S., and Berns, K.I. (2008). Gene therapy using adenoassociated virus vectors. Clin. Microbiol. Rev. 21, 583-593.
7. Gabriel, N., Hareendran, S., Sen, D., et al. (2013). Bioengineering of AAV2 capsid at specific serine, threonine, or lysine residues improves its transduction efficiency in vitro and in vivo. Hum. Gene Ther. Methods 24, 80-93.
8. Gao, G.P., Alvira, M.R., Wang, L., et al. (2002). Novel adenoassociated viruses from rhesus monkeys as vectors for human gene therapy. Proc. Natl. Acad. Sci. USA 99, 11854-11859.
9. Grieger, J.C., and Samulski, R.J. (2012). Adeno-associated virus vectorology, manufacturing, and clinical applications. Methods Enzymol. 507, 229-254.
10. Hauswirth, W.W., Aleman, T.S., Kaushal, S., et al. (2008). Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum. Gene Ther. 19, 979-990.
11. Inagaki, K., Fuess, S., Storm, T.A., et al. (2006). Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8. Mol. Ther. 14, 45-53.
12. Kaplitt, M.G., Feigin, A., Tang, C., et al. (2007). Safety and tolerability of gene therapy with an adeno-associated virus (AAV) borne GAD gene for Parkinson's disease: an open label, phase I trial. Lancet 369, 2097-2105.
13. Kornegay, J.N., Li, J., Bogan, J.R., et al. (2010). Widespread muscle expression of an AAV9 human mini-dystrophin vector after intravenous injection in neonatal dystrophin-deficient dogs. Mol. Ther. 18, 1501-1508.
14. Maguire, A.M., High, K.A., Auricchio, A., et al. (2009). Agedependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 374, 1597-1605.
15. Maguire, A.M., Simonelli, F., Pierce, E.A., et al. (2008). Safety and efficacy of gene transfer for Leber's congenital amaurosis. N. Engl. J. Med. 358, 2240-2248.
16. Manno, C.S., Chew, A.J., Hutchison, S., et al. (2003). AAVmediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood 101, 2963-2972.
17. Mendell, J.R., Campbell, K., Rodino-Klapac, L., et al. (2010). Dystrophin immunity in Duchenne's muscular dystrophy. N. Engl. J. Med. 363, 1429-1437.
18. Mueller, C., and Flotte, T.R. (2008). Clinical gene therapy using recombinant adeno-associated virus vectors. Gene Ther. 15, 858-863.
19. Muzyczka, N., and Warrington, K.H., Jr. (2005). Custom adenoassociated virus capsids: the next generation of recombinant vectors with novel tropism. Hum. Gene Ther. 16, 408-416.
20. Nakai, H., Fuess, S., Storm, T.A., et al. (2005). Unrestricted hepatocyte transduction with adeno-associated virus serotype 8 vectors in mice. J. Virol. 79, 214-224.
21. Nathwani, A.C., Tuddenham, E.G., Rangarajan, S., et al. (2011). Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N. Engl. J. Med. 365, 2357-2365.
22. Pang, J.J., Dai, X., Boye, S.E., et al. (2011). Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa. Mol. Ther. 19, 234-242.
23. Petrs-Silva, H., Dinculescu, A., Li, Q., et al. (2009). Highefficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors. Mol. Ther. 17, 463-471.
24. Qiao, C., Li, J., Zhu, T., et al. (2005). Amelioration of lamininalpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin. Proc. Natl. Acad. Sci. USA 102, 11999-12004.
25. Qiao, C., Yuan, Z., Li, J., et al. (2011). Liver-specific microRNA-122 target sequences incorporated in AAV vectors efficiently inhibits transgene expression in the liver. Gene Ther. 4, 403-410.
26. Qiao, C., Yuan, Z., Li, J., et al. (2012). Single tyrosine mutation in AAV8 and AAV9 capsids is insufficient to enhance gene delivery to skeletal muscle and heart. Hum. Gene Ther. Methods 23, 29-37.
27. Schaffer, D.V., and Maheshri, N. (2004). Directed evolution of AAV mutants for enhanced gene delivery. Conf. Proc. IEEE Eng. Med. Biol. Soc. 5, 3520-3523.
28. Sen, D., Balakrishnan, B., Gabriel, N., et al. (2013a). Improved adeno-associated virus (AAV) serotype 1 and 5 vectors for gene therapy. Sci. Rep. 3, 1832.
29. Sen, D., Gadkari, R.A., Sudha, G., et al. (2013b). Targeted modifications in adeno-associated virus serotype 8 capsid improves its hepatic gene transfer efficiency in vivo. Hum. Gene Ther. Methods 24, 104-116.
30. Thomas, C.E., Storm, T.A., Huang, Z., and Kay, M.A. (2004). Rapid uncoating of vector genomes is the key to efficient liver transduction with pseudotyped adeno-associated virus vectors. J. Virol. 78, 3110-3122.
31. Wang, B., Li, J., and Xiao, X. (2000). Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc. Natl. Acad. Sci. USA 97, 13714-13719.
32. Wang, Z., Ma, H.I., Li, J., et al. (2003). Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo. Gene Ther. 10, 2105-2111.
33. Wang, Z., Zhu, T., Qiao, C., et al. (2005). Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat. Biotechnol. 23, 321-328.
34. Wu, Z., Asokan, A., and Samulski, R.J. (2006). Adeno-associated virus serotypes: vector toolkit for human gene therapy. Mol. Ther. 14, 316-327.
35. Xiao, X., Li, J., and Samulski, R.J. (1998). Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus. J. Virol. 72, 2224-2232.
36. Xu, L., Daly, T., Gao, C., et al. (2001). CMV-beta-actin promoter directs higher expression from an adeno-associated viral vector in the liver than the cytomegalovirus or elongation factor 1 alpha promoter and results in therapeutic levels of human factor X in mice. Hum. Gene Ther. 12, 563-573.
37. Yang, L., Jiang, J., Drouin, L.M., et al. (2009). A myocardium tropic adeno-associated virus (AAV) evolved by DNA shuffling and in vivo selection. Proc. Natl. Acad. Sci. USA 106, 3946-3951.
38. Zhong, L., Li, B., Jayandharan, G., et al. (2008a). Tyrosinephosphorylation of AAV2 vectors and its consequences on viral intracellular trafficking and transgene expression. Virology 381, 194-202.
39. Zhong, L., Li, B., Mah, C.S., et al. (2008b). Next generation of adeno-associated virus 2 vectors: point mutations in tyrosines lead to high-efficiency transduction at lower doses. Proc. Natl. Acad. Sci. USA 105, 7827-7832.
40. Zhong, L., Zhao, W., Wu, J., et al. (2007). A dual role of EGFR protein tyrosine kinase signaling in ubiquitination of AAV2 capsids and viral second-strand DNA synthesis. Mol. Ther. 15, 1323-1330.
41. Zhu, T., Zhou, L., Mori, S., et al. (2005). Sustained whole-body functional rescue in congestive heart failure and muscular dystrophy hamsters by systemic gene transfer. Circulation 112, 2650-2659.
42. Zincarelli, C., Soltys, S., Rengo, G., and Rabinowitz, J.E. (2008). Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection. Mol. Ther. 16, 1073-1080.