Long-term and efficient expression of human β-globin gene in a hematopoietic cell line using a new site-specific integrating non-viral system

Gene Therapy

Volumn 22, Issue 8, 2015, Pages 663-674

  Dormiani, K ^a   Mir Mohammad Sadeghi, H ^a   Sadeghi Aliabadi, H ^a   Ghaedi, K ^b,c   Forouzanfar, M ^b   Baharvand, H ^b,d   Nasr Esfahani, M H ^b  

^a ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b ROYAN INSTITUTE FOR REPRODUCTIVE BIOMEDICINE   (Iran)

^c UNIVERSITY OF ISFAHAN   (Iran)

^d UNIVERSITY OF SCIENCE AND CULTURE   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

AMPICILLIN; CRE RECOMBINASE; GLOBIN MESSENGER RNA; HEMOGLOBIN BETA CHAIN; INTEGRASE; PUROMYCIN;

ANIMAL CELL; ARTICLE; CELL PROLIFERATION; CHROMOSOME 17; CONTINUOUS CULTURE; CONTROLLED STUDY; FLOW CYTOMETRY; GENE ACTIVITY; GENE EXPRESSION; GENE LOCATION; GENE VECTOR; GENETIC TRANSFECTION; HEMATOPOIETIC CELL; HOMOLOGOUS RECOMBINATION; HUMAN; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; INVERSE POLYMERASE CHAIN REACTION; LOXP SITE; NON VIRAL VECTOR; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REGULATOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STABLE EXPRESSION; TRANSIENT EXPRESSION; GENE DOSAGE; GENE TRANSFER; GENETICS; HEMATOPOIETIC STEM CELL; METABOLISM; TUMOR CELL LINE;

BACTERIA (MICROORGANISMS);

BETA-GLOBINS; CELL LINE, TUMOR; GENE DOSAGE; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; HEMATOPOIETIC STEM CELLS; HUMANS; INTEGRASES;

EID: 84938747200     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/gt.2015.30     Document Type: Article

References (54)

1. Kay MA. State-of-the-art gene-based therapies: the road ahead. Nat Rev Genet 2001; 12: 316-328.
2. O'Connor TP, Crystal RG. Genetic medicines: treatment strategies for hereditary disorders. Nat Rev Genet 2006; 7: 261-276.
3. Moi P, Sadelain M. Towards the genetic treatment of beta-thalassemia: new disease models, new vectors, new cells. Haematologica 2008; 93: 325-330.
4. Quek L, Thein SL. Molecular therapies in beta-thalassaemia. Br J Haematol 2007; 136: 353-365.
5. Dong A, Rivella S, Breda L. Gene therapy for hemoglobinopathies: progress and challenges. Transl Res 2013; 161: 293-306.
6. Naldini L. Ex vivo gene transfer and correction for cell-based therapies. Nat Rev Genet 2011; 12: 301-315.
7. Rund D, Rachmilewitz E. Thalassemia. N Engl J Med 2005; 355: 1135-1146.
8. Ye L, Chang JC, Lin C, Sun X, Yu J, Kan YW. Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases. Proc Natl Acad Sci USA 2009; 106: 9826-9830.
9. Papapetrou EP, Zoumbos NC, Athanassiadou A. Genetic modification of hematopoietic stem cells with non-viral systems: past progress and future prospects. Gene Therapy 2005; 12: S118-S130.
10. Karow M, Calos MP. The therapeutic potential of phiC31 integrase as a gene therapy system. Expert Opin Biol Ther 2011; 11: 1287-1296.
11. Hackett PB. Integrating DNA vectors for gene therapy. Mol Ther 2007; 15: 10-12.
12. Christopher L, Chavez CL, Calos MP. Therapeutic applications of the phiC31 integrase system. Curr Gene Ther 2011; 11: 1287-1296.
13. Liu Y, Lakshmipathy U, Ozgenc A, Thyagarajan B, Lieu P, Fontes A et al. hESC engineering by integrase-mediated chromosomal targeting. Methods Mol Biol 2010; 594: 229-268.
14. Glover DJ, Lipps HJ, Jans DA. Towards safe, non-viral therapeutic gene expression in humans. Nat Rev Genet 2005; 6: 299-310.
15. Calos MP. The phiC31 integrase system for gene therapy. Curr Gene Ther 2006; 6: 633-645.
16. Groth AC, Olivares EC, Thyagarajan B, Calos MP. A phage integrase directs efficient site-specific integration in human cells. Proc Natl Acad Sci USA 2000; 97: 5995-6000.
17. Thyagarajan B, Olivares EC, Hollis RP, Ginsburg DS, Calos MP. Site-specific genomic integration in mammalian cells mediated by phage phiC31 integrase. Mol Cell Biol 2001; 21: 3926-3934.
18. Sivalingam J, Krishnan S, NG WH, Lee SS, Phan TT, Kon OL. Biosafety assessment of site-directed transgene integration in human umbilical cord-lining cells. Mol Ther 2010; 18: 1346-1356.
19. Giudice A, Trounson A. Genetic modification of human embryonic stem cells for derivation of target cells. Cell Stem Cell 2008; 2: 422-433.
20. Thyagarajan B, Calos MP. Site-specific integration for high-level protein production in mammalian cells. In: Smales CM, James DC (eds), Therapeutic Proteins: Methods and Protocol. Humana Press: Totowa, NJ, 2005, pp 99-106.
21. Thyagarajan B, Liu Y, Shin S, Lakshmipathy U, Scheyhing K, Xue H et al. Creation of engineered human embryonic stem cell lines using phiC31 integrase. Stem Cells 2008; 26: 119-126.
22. Bertoni C, Jarrahian S, Wheeler TM, Li Y, Olivares EC, Calos MP et al. Enhancement of plasmid-mediated gene therapy for muscular dystrophy by directed plasmid integration. Proc Natl Acad Sci USA 2006; 103: 419-424.
23. Keravala A, Chavez CL, Hu G, Woodard LE, Monahan PE, Calos MP. Long-term phenotypic correction in factor IX knockout mice by using phiC31 integrasemediated gene therapy. Gene Therapy 2011; 18: 842-848.
24. Ishikawa Y, Tanaka N, Murakami K, Uchiyama T, Kumaki S, Tsuchiya S et al. Phage phiC31 integrase-mediated genomic integration of the common cytokine receptor gamma chain in human T-cell lines. J Gene Medicine 2006; 8: 646-653.
25. Quenneville SP, Chapdelaine P, Rousseau J, Beaulieu J, Caron NJ, Skuk D et al. Nucleofection of muscle-derived stem cells and myoblasts with phiC31 integrase: stable expression of a full-length-dystrophin fusion gene by human myoblasts. Mol Ther 2004; 10: 679-687.
26. Ortiz-Urda S, Keene D, Lin Q, Calos MP, Khavari P. PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. Hum Gene Ther 2003a; 14: 923-928.
27. Keravala A, Ormerod BK, Palmer TD, Calos MP. Long-term transgene expression in mouse neural progenitor cells modified with phiC31 integrase. J Neurosci Methods 2008; 173: 299-305.
28. Ellis J, Pannell D. The beta-globin locus control region versus gene therapy vectors: a struggle for expression. Clin Genet 2001; 59: 17-24.
29. Young K, Donovan-Peluso M, Bloom K, Allan M, Paul J, Bank A. Stable transfer and expression of exogenous human globin genes in human erythroleukemia (K562) cells. Proc Natl Acad Sci USA 1984; 81: 5315-5319.
30. Takagi S, Kimura M, Katsuki M. A rapid and efficient protocol of the inverted PCR using two primer pairs. Biotechniques 1992; 13: 176-178.
31. Hoebeeck J, Speleman F, Vandesompele J. Real-time quantitative PCR as an alternative to southern blot or fluorescence in situ hybridization for detection of gene copy number changes. In: Hilario E, Mackay J (eds), Methods in Molecular Biology. Humana Press: Totowa, NJ, 2007, pp 205-226.
32. Branda CS, Dymecki SM. Talking about a revolution: the impact of site-specific recombinases on genetic analyses in mice. Dev Cell 2004; 6: 7-28.
33. Kollias G, Wrighton N, Hurst J, Grosveld F. Regulated expression of human A gamma-, beta-, and hybrid gamma beta-globin genes in transgenic mice: manipulation of the developmental expression patterns. Cell 1986; 46: 89-94.
34. Howden SE, Voullaire L, Wardan H, Williamson R, Vadolas J. Site-specific Repmediated integration of the intact beta-globin locus in the human erythroleukaemic cell line K562. Gene Therapy 2008; 15: 1372-1383.
35. Kotzamanis G, Abdulrazzak H, Kotsinas A, Gorgoulis VG. Non-viral gene therapy. In: Yuan X (ed), Non-Viral Gene Therapy. InTech: Croatia 2011, pp 1-26.
36. Sadelain M, Lisowski L, Samakoglu S, Rivella S, May C, Riviere I. Progress toward the genetic treatment of the beta-thalassemias. Ann N Y Acad Sci 2005; 1054: 78-91.
37. Watanabe S, Nakamura S, Sakurai T, Akasaka K, Sato M. Improvement of a phiC31 integrase-based gene delivery system that confers high and continuous transgene expression. N Biotechnol 2011; 28: 312-319.
38. Tanimoto K, Liu Q, Bungert J, Engel JD. Effects of altered gene order or orientation of the locus control region on human globin gene expression in mice. Nature 1999; 398: 344-348.
39. Fraser P, Hurst J, Collis P, Grosveld F. DNaseI hypersensitive sites 1, 2 and 3 of the human beta-globin dominant control region direct position-independent expression. Nucleic Acids Res 1990; 18: 3503-3508.
40. Noordermeer D, Branco MR, Splinter E, Klous P, Van IW, Swagemakers S et al. Transcription and chromatin organization of a housekeeping gene cluster containing an integrated beta-globin locus control region. PLoS Genet 2009; 4: e1000016.
41. Bungert J, Davé U, Lim KC, Lieuw KH, Shavit JA, Liu Q et al. Synergistic regulation of human beta-globin gene switching by locus control region elements HS3 and HS4. Genes Dev 1995; 9: 3083-3096.
42. Zhu J, Kren BT, Park CW, Bilgim R, Wong PY, Steer CJ. Erythroid-specific expression of beta-globin by the sleeping beauty transposon for Sickle cell disease. Biochemistry 2007; 46: 6844-6858.
43. Antoniou M, Geraghty F, Hurst J, Grosveld F. Efficient 3'-end formation of human beta-globin mRNA in vivo requires sequences within the last intron but occurs independently of the splicing reaction. Nucleic Acids Res 1998; 26: 721-729.
44. Leboulch P, Huang GM, Humphries RK, Oh YH, Eaves CJ, Tuan DY et al. Mutagenesis of retroviral vectors transducing human beta-globin gene and betaglobin locus control region derivatives results in stable transmission of an active transcriptional structure. EMBO J 1994; 13: 3065-3076.
45. Rubin JE, Pasceri P, Wu X, Leboulch P, Ellis J. Locus control region activity by 5'HS3 requires a functional interaction with beta-globin gene regulatory elements: expression of novel beta/gamma-globin hybrid transgenes. Blood 2000; 95: 3242-3249.
46. Nishiumi F, Sone T, Kishine H, Thyagarajan B, Kogure T, Miyawaki A et al. Simultaneous single cell stable expression of 2-4 cDNAs in HeLaS3 using phiC31 integrase system. Cell Struct Funct 2009; 34: 47-59.
47. Ehrhardt A, Engler JA, Xu H, Cherry AM, Kay MA. Molecular analysis of chromosomal rearrangements in mammalian cells after phiC31-mediated integration. Hum Gene Ther 2006; 17: 1077-1094.
48. Chalberg TW, Portlock JL, Olivares EC, Thyagarajan B, Kirby PJ, Hillman RT et al. Integration specificity of phage phiC31 integrase in the human genome. J Mol Biol 2006; 357: 28-48.
49. Chen ZY, Riu E, He CY, Xu H, Kay MA. Silencing of episomal transgene expression in liver by plasmid bacterial backbone DNA is independent of CpG methylation. Mol Ther 2008; 16: 548-556.
50. Pham CT, MacIvor DM, Hug BA, Heusel JW, Ley TJ. Long-range disruption of gene expression by a selectable marker cassette. Proc Natl Acad Sci USA 1996; 93: 13090-13095.
51. Davis RP, Costa M, Grandela C, Holland AM, Hatzistavrou T, Micallef SJ et al. A protocol for removal of antibiotic resistance cassettes from human embryonic stem cells genetically modified by homologous recombination or transgenesis. Nat Protoc 2008; 3: 1550-1558.
52. Hemmi H, Takeuchi O, Kawai T, Kaisho T, Sato S, Sanjo H et al. A Toll-like receptor recognizes bacterial DNA. Nature 2000; 408: 740-745.
53. EMA. Guideline on the Non-Clinical Studies Required Before First Clinical Use of Gene Therapy Medicinal Products. European Medicines Agency: London, UK, 2008.
54. Peitz M, Pfannkuche K, Rajewsky K, Edenhofer F. Ability of the hydrophobic FGF and basic TAT peptides to promote cellular uptake of recombinant Cre recombinase: a tool for efficient genetic engineering of mammalian genomes. Proc Natl Acad Sci USA 2002; 99: 4489-4494.