Mammalian artificial chromosomes as tools for gene therapy

Current Opinion in Genetics and Development

Volumn 8, Issue 3, 1998, Pages 351-359

  Vos, Jean Michel H ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERA; CHROMOSOME; CIS ISOMER; EPISOME; GENE THERAPY; HUMAN; MAMMAL; MULTIFACTORIAL GENETIC DISORDER; NONHUMAN; PRIORITY JOURNAL; REVIEW; SHUTTLE VECTOR; TRANSGENE;

EID: 0032104416     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(98)80093-2     Document Type: Article

References (64)

1. Huxley C. Mammalian artificial chromosomes and chromosome transgenics. Trends Genet. 13:1997;345-347.
2. Brown W, Tyler-Smith C. Centromere activation. Trends Genet. 11:1995;337-339.
3. Calos MP. The potential of extrachromosomal replicating vectors for gene therapy. Trends Genet. 12:1996;463-466.
4. Willard HF. Chromosome manipulation: a systematic approach toward understanding human chromosome structure and function. Proc Natl Acad Sci USA. 93:1996;7125-7130.
5. Vos J-MH. The simplicity of complex MACs. Nat Biotech. 15:1997;1257-1259.
6. Heartlein MW, Knoll JHM, Latt SA. Chromosome instability associated with human alphoid DNA transfected into the Chinese hamster genome. Mol Cell Biol. 8:1988;3611-3618.
7. Warburton PE, Cooke HJ. Hamster chromosomes containing amplified human α-satellite DNA show delayed sister chromatid separation in the absence of de novo kinetochore formation. Chromosoma. 106:1997;149-159.
8. Harrington JJ, Bokkelen GV, Mays RW, Gustashaw K, Willard HF. Formation for de novo centromeres and construction of first-generation human artificial microchromosomes. of outstanding interest Nat Genet. 15:1997;345-355 A remarkable description of the generation in situ of a human artificial mini-HAC 4.0-10.0 Mb in size and carrying an active centromere after co-transfection of human alphoid, total genomic and telomeric DNAs. This is the first evidence that human cells can function as a 'molecular mixer' to build MACs. This system represents a powerful research tool for studying centromeric function (see also the accompanying paper by Ikeno et al. [9]).
9. Ikeno M, Okazaki T, Grimes B, Saitoh K, Cooke H, Masumoto H. Generation of human artificial chromosomes from a YAC containing alphoid DNA with CENP-B boxed and human telomeres. Nat Biotechnol. 1998.
10. Haaf T. High-resolution analysis of DNA replication in released chromatin fibers containing 5-bromedeoxyuridine. Biotechniques. 21:1996;1050-1054.
11. Burke DT, Carle GF, Olson MV. Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science. 236:1987;806-812.
12. Hahnenberger KM, Baum MP, Polizzi CM, Carbon J, Clarke L. Construction of functional artificial minichromosomes in the fission yeast Schizosaccharomyces pombe. Proc Natl Acad Sci USA. 86:1989;577-581.
13. Choo KHA. Centromere DNA dynamics: latent centromeres and neocentromere formation. Am J Hum Genet. 61:1998;1225-1233.
14. Depinet TW, Zachowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, et al. Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. of outstanding interest Hum Mol Genet. 6:1998;1195-1204 This work reports that eight different human marker autosomal chromosomes appeared devoid of any detectable alphoid sequence but did carry a functional centromere. In combination with the work by du Sart et al. [15], this observation leads to the conclusion that alphoid DNA may be dispensable for human chromosome segregation.
15. of special interest du Sart D, Cancilla MR, Earle E, Mao J, Saffery R, Tainton KM, Kalitsis P, Martyn J, Barry AE, Choo KHA. A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA. of special interest Nat Genet. 16:1997;144-153 Similar to the report by Depinet et al. [14], these authors made the important observation that centromeric proteins associated with functional centromeres can bind to a 'neo-centromeric' region lacking any alphoid sequence. Through a refined in situ mapping strategy, the minimal core region of a latent neo-centromere was reduced to a 80 kb genomic region on human chromosome 10q25. Together, these two studies suggest that marker chromosome formation is accompanied by activation of non-centromeric sequences at non-centromeric sites.
16. of outstanding interest Wright WE, Platyszek MA, Rainey WE, Byrd W, Shay JW. Telomerase activity in human germline and embryonic tissues and cells. Dev Genet. 18:1996;173-179.
17. Greider CW. Telomere length regulation. Annu Rev Biochem. 65:1996;337-365.
18. Allsopp RC, Vaziri C, Patterson S, Goldstein EV, Younglai AB, Futcher CW, Grelder CW, Harley CB. Telomere length predicts replicative capacity of human fibroblasts. Proc Natl Acad Sci USA. 89:1992;10114-10118.
19. Notaro R, Cimmino D, Tabarini D, Rotoli B, Luzzatto L. In vivo telomere dynamics of human hematopoietic stem cells. of special interest Proc Natl Acad Sci USA. 94:1997;13782-13785 An elegant description of the in vivo telomeric shortening of human chromosomes from transplanted hematopoietic stem cells. Strikingly, the proliferation of transplanted stem cells was found to be reduced when compared to those of the original donor. As suggested by the authors, such as abbreviated lifespan of infused human cells must be considered when developing new gene therapy protocols.
20. Smith S, De Lange T. TRF1, a mammalian telomeric protein. Trends Genet. 13:1997;21-26.
21. Barnett MA, Buckle VJ, Evans EP, Porter ACG, Rout D, Smith AG, Brown WRA. Telomere directed fragmentation of mammalian chromosomes. Nucleic Acids Res. 21:1993;27-36.
22. Bodnar AG, Ouellette M, Frrolkis M, Holt SE, Chiu CP, Morin GB, Harley CB, Shay JW, Lichtsteiner S, Wright WE. Extension of life-span by introduction of telomerase into normal human cells. of outstanding interest Science. 279:1998;349-352 A remarkable description of the extension of the lifespan of human cells in cultures by stable expression of the catalytic subunit of the human telomerase. This work has important implications for aging mechanisms by establishing a direct link between cell senescence and the size of repeats at human chromosome ends. In addition, it may offer potential gene therapy strategies for cancer cells and aging diseases.
23. Lieber A, He CY, Kay MA. Adenoviral preterminal protein stabilizes mini-adenoviral genomes in vitro and in vivo. of outstanding interest Nat Biotech. 15:1997;1383-1387 An elegant demonstration that a viral protein involved in the replication of the adenoviral termini, the E2-preterminal protein, allows sustained expression and genomic persistence in tissue cultures as well as in immunodeficient mice. This study illustrates the importance of analyzing the role of various latent viral proteins to construct improved next-generation 'gutless' mini-adenoviral vectors (see also the report by Schiedner et al. [47]).
24. of special interest Ferrari FK, Xiao X, McCarthy D, Samulski RJ. New developments in the generation of Ad-free, high-titer rAAV gene therapy vectors. of special interest Nat Med. 3:1997;1295-1297 A nice report describing an important technical advance for the production of helper-free transducing infectious AAV. The possibility of making high-titer AAV vectors not contaminated with infectious adenovirus is a much-welcomed step in the development of safer gene therapy protocols based on this viral system.
25. Murray AW, Szostak JW. Construction of artificial chromosomes in yeast. Nature. 305:1983;189-193.
26. Karpen GH, Allshire RC. The case for epigenetic effects on centromere identity and function. Trends Genet. 13:1997;489-496.
27. Rein T, Zorbas H, DePamphilis M. Active mammalian replication origins are associated with a high-density cluster of mCpG dinucleotides. of special interest Mol Cell Biol. 17:1997;416-426 Several origins of bidirectional replication from mammalian chromosomes were shown to carry highly methylated clusters of CpG dinucleotides. Through a refined nascent-labelling strategy, the methylated origins were observed to be functionally active. The authors proposed a correlation between a high-density cluster of mCpG and the establishment and/or regulation of mammalian replications origins.
28. Perou CM, Justice MJ, Pryor RJ, Kaplan J. Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc Natl Acad Sci USA. 93:1996;5905-5909.
29. Simpson K, McGuigan A, Huxley C. Stable episomal maintenance of yeast artificial chromosomes in human cells. Mol Cell Biol. 16:1996;5117-5126.
30. Kelleher ZT, Fu H, Livanos E, Wendelburg B, Gulino S, Vos J-MH. Mouse artificial episomal chromosomes for shuttling 100 kb of self-replicating circular human DNA in mouse cells. Nat Biotechnol. 1998.
31. Sun T-Q, Fenstermacher D, Vos J-MH. Human artificial episomal chromosomes for cloning large DNA in human cells. Nat Genet. 8:1994;33-41.
32. Yates JL. Epstein-Barr virus DNA replication. DNA Replication in Eukaryotic Cells. 1996;751-773 Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
33. Featherstone T, Huxley C. Extrachromosomal maintenance and amplification of yeast artificial chromosome DNA in mouse cells. Genomics. 17:1993;267-278.
34. Westphal EM, Sierakowska H, Livanos E, Kole R, Vos J-M. A system for shuttling 200 kb BAC/PAC clones into human cells: stable extrachromosomal persistence and long-term ectopic gene activation. Hum Gene Ther. 1998.
35. of special interest Wendelburg BJ, Vos J-MH. An enhanced EBNA1 variant with a partial Gly-Ala domain for long-term episomal maintenance and transgene expression. Gene Ther. 1998;. in press.
36. Peterson KR, Clegg CH, Li Q, Stamatoyannopoulos G. Production of transgenic mice with yeast artificial chromosomes. Trends Genet. 13:1997;61-66.
37. Dillon N, Grosveld F. Chromatin domains as potential units of eukaryotic gene function. Curr Opin Genet Dev. 4:1994;260-264.
38. Wolffe AP. Chromatin structure and DNA replication: implications for transcriptional activity. DNA Replication in Eukaryotic Cells. 1996;271-293 Cold Spring Harbor Press, Cold Spring Harbor, New York.
39. Vos J-MH, Westphal E-M, Banerjee S. Infectious herpes vectors for gene therapy. Gene Therapy. 1996;127-153 BIOS Scientific Publishers, Ltd, Oxford, UK.
40. Sandig V, Hofmann C, Steinert S, Jennings G, Schlag P, Strauss M. Gene transfer into hepatocytes and human liver tissue by baculovirus vectors. Hum Gene Ther. 7:1996;1937-1945.
41. Geller AI, Breakefield XO. A defective HSV-1 vector expresses Escherichia coli B-galactosidase in cultured peripheral neurons. Science. 241:1988;1667-1669.
42. Wang S, Vos J-MH. An HSV/EBV based vector for high efficient gene transfer to human cells in vitro/in vivo. J Virol. 70:1996;8422-8430.
43. Banerjee S, Livanos L, Vos J-MH. Therapeutic gene delivery in human B-lymphoblastoid cells by engineered non-transforming Epstein-Barr virus. Nat Med. 1:1995;1303-1308.
44. Wang F, Xianping L, Annis B, Faustman DL. Tap-1 and Tap-2 gene therapy selectively restores conformationally dependent HLA Class I expression in Type I diabetic cells. Hum Gene Ther. 6:1995;1005-1017.
45. Sun T-Q, Livanos E, Vos J-MH. Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes. Gene Ther. 3:1996;1081-1088.
46. Mitani K, Graham FL, Caskey CT, Kochanek S. Rescue, propagation, and partial purification of a helper virus-dependent adenovirus vector. Proc Natl Acad Sci USA. 92:1995;3854-3858.
47. Schiedner G, Morral N, Parks RJ, Wu Y, Koopmans SC, Langston C, Graham FL, Beaudet AL, Kochanek S. Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity. of outstanding interest Nat Genet. 18:1998;180-181 A remarkable description of the regulated expression of a tissue-specific gene, the 19 kb α1-antitrypsin, using a minimal gutless adenoviral virus injected intravenously in immuno-competent mice. Strikingly, expression from the non-replicating viral vector in liver cells persisted over at least 10 months. These results highlight the significant advantages of adenoviral vectors devoid of all viral coding sequences and of regulated gene expression using genomic DNA for in vivo gene therapy.
48. Curiel DT. Gene transfer mediated by adenovirus-polylysine-DNA complexes. Vos J-MH. Viruses in Human Gene Therapy. 1995;179-212 Carolina Academic Press, Durham, North Carolina.
49. Baker A, Cotten M. Delivery of bacterial artificial chromosomes into mammalian cells with psoralen-inactivated adenovirus carrier. Nucleic Acids Res. 25:1997;1950-1956.
50. Kelleher Z, Vos J-M. Long-term episomal gene delivery in human lymphoid cells using human and avian adenoviral-assisted transfection. Biotechniques. 17:1994;1110-1117.
51. Tlsty TD. Regulation of genomic instability in preneoplastic cells. Cancer Surv. 28:1996;217-224.
52. Kereso J, Praznovszky T, Cserpan I, Fodor K, Katona R, Csonka E, Fatyol K, Hollo G, Szeles A, Ross AR, et al. De novo chromosome formations by large-scale amplification of the centromeric region of mouse chromosomes. Chromosome Res. 4:1996;226-239.
53. Shen MH, Yang J, Loupart M-L, Smith A, Brown W. Human mini-chromosomes in mouse embryonal stem cells. of outstanding interest Hum Mol Genet. 6:1997;1375-1382 Following the successful transfer of 4.0-15.0 Mb human fragmented Y mini-HACs from CHO cells into murine embryonal stem cells, a mitotically stable 4 Mb mini-HAC was identified which had acquired mouse centromeric sequences. This unusual chimeric human-mouse MAC represents a unique tool for generating 'trans-chromosomic mice' carrying a human mini-Y. This work also highlights the potential instability of HACs in a rodent background (see also report by Tomizuka et al., [56]).
54. of special interest Farr CJ, Bayne RA, Kipling D, Mills W, Critcher R, Cooke HJ. Generation of a human X-derived minichromosome using telomere-associated chromosome fragmentation. EMBO J. 14:1995;5444-5454.
55. Heller R, Brown KE, Burgtorf C, Brown WR. Mini-chromosomes derived from the human Y chromosome by telomere directed chromosome breakage. Proc Natl Acad Sci USA. 93:1996;7125-7130.
56. Tomizuka K, Yoshida H, Uejima H, Kugoh H, Sato K, Ohguma A, Hayasaka M, Hanaoka K, Oshimura M, Ishida I. Functional expression and germline transmission of a human chromosome fragment in chimaeric mice. Nat Genet. 16:1997;113-114 A remarkable report on the generation of trans-chromosomic 'humanized' mice carrying intact or fragmented autosomal human chromosomes. Strikingly, germline transmission was observed with a particular sub-chromosome 2 fragment spanning the centromere. This work highlights the power of interspecies chromosomal shuttling for studies on functional genomics and for the future development of gene therapy strategies based on MACs.
57. of outstanding interest Nonet GH, Wahl GM. Introduction of YACs containing a putative mammalian replication origin into mammalian cells can generate structures that replicate autonomously. Somat Cell Mol Genet. 19:1993;171-192.
58. Taylor SS, Larin Z, Tyler-Smith C. Analysis of extrachromosomal structures containing human centromeric alphoid satellite DNA sequences in mouse cells. Chromosoma. 105:1996;70-81.
59. Krysan PJ, Smith JG, Calos MP. Autonomous replication in human cells of multimers of specific human and bacterial DNA sequence. Mol Cell Biol. 13:1993;2688-2696.
60. Wohlgemuth JG, Kang SH, Bulboaca GH, Nawotka KA, Calos MP. Long-term gene expression from autonomously replicating vectors in mammalian cells. Gene Ther. 3:1996;503-512.
61. Wilmut I, Schnieke AE, McWhir J, Kind AJ, Campbell KH. Viable offspring derived from fetal and adult mammalian cells. of outstanding interest Nature. 385:1997;810-813 A ground-breaking report describing the birth of genetically identical newborn lambs through nuclear transfer from quiescent cells of a fetus, embryo or adult mammary gland. This work demonstrates that a normally developing 'clonal' mammal can be generated using the diploid genome from differentiated cells from an adult donor. By excluding irreversible modification of the genetic material, this study highlights the reversibility and flexibility of the differentiation process of mammalian cells (see also accompanying paper by Schnieke et al., [62]).
62. Schnieke AE, Kind AJ, Ritchle WA, Mycock K, Scott AR, Ritchie M, Wilmut I, Colman A, Campbell KH. Human factor IX transgenic sheep produced by transfer of nuclei from transfected fetal fibroblasts. Science. 278:1997;2130-2133 As a follow-up study to Wilmut et al., [61], the same group here demonstrate that standard in vitro gene-transfer techniques on primary fetal fibroblasts can be combined with whole-animal cloning technology based on nuclear transfer to generate newborn sheep transgenic for a therapeutic transgene such as human Factor IX. In combination with the earlier report, the implications of this work are far reaching for basic developmental studies as well as applied animal transgenics.
63. of outstanding interest Walters L, Palmer JG. The Ethics of Human Gene Therapy. 1997;209 Oxford University Press, New York.
64. Lewin DI. Herpes, EBV survive by antigenic stealth. J NIH Res. 7:1995;49-53.