Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

Nature

Volumn 478, Issue 7369, 2011, Pages 391-394

  Yusa, Kosuke ^a   Rashid, S Tamir ^b,c   Strick Marchand, Helene ^d,e   Varela, Ignacio ^f   Liu, Pei Qi ^g   Paschon, David E ^g   Miranda, Elena ^c,h   Ordóñez, Adriana ^c   Hannan, Nicholas R F ^b   Rouhani, Foad J ^a,b   Darche, Sylvie ^d,e   Alexander, Graeme ⁱ   Marciniak, Stefan J ^c   Fusaki, Noemi ^j,k   Hasegawa, Mamoru ^j   Holmes, Michael C ^g   Di Santo, James P ^d,e   Lomas, David A ^c   Bradley, Allan ^a   Vallier, Ludovic ^b  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d INSTITUT PASTEUR   (France)

^e INSTITUT PASTEUR   (France)

^f University of Cantabria   (Spain)

^g SANGAMO BIOSCIENCES INC   (United States)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^j DNAVEC Corporation   (Japan)

^k JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEASE; ZINC FINGER PROTEIN;

DISEASE TREATMENT; ENZYME ACTIVITY; GENE EXPRESSION; GENETIC ENGINEERING; GENOME; INHIBITOR; MEDICINE; MUTATION; PUBLIC HEALTH; RECOMBINATION;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOLOGOUS STEM CELL TRANSPLANTATION; BIOTECHNOLOGY; CELL THERAPY; CONTROLLED STUDY; EMBRYO; GENE MUTATION; GENE TARGETING; GENOME; GENOTYPE; HUMAN; HUMAN CELL; LIVER CELL; MOUSE; NONHUMAN; PLURIPOTENT STEM CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STEM CELL TRANSPLANTATION;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; ANIMALS; CELL LINE; DNA TRANSPOSABLE ELEMENTS; HEPATOCYTES; HUMANS; INDUCED PLURIPOTENT STEM CELLS; LIVER; MICE; SERUM ALBUMIN; TARGETED GENE REPAIR; TIME FACTORS;

MAMMALIA;

EID: 80054987997     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature10424     Document Type: Article

References (36)

1. Takahashi, K. et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131, 861-872 (2007). (Pubitemid 350138099)
2. Yu, J. et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 318, 1917-1920 (2007).
3. Stadtfeld, M. & Hochedlinger, K. Induced pluripotency: history, mechanisms, and applications. Genes Dev. 24, 2239-2263 (2010).
4. Hanna, J. et al. Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 318, 1920-1923 (2007).
5. Fairchild, P. J. The challenge of immunogenicity in the quest for induced pluripotency. Nature Rev. Immunol. 10, 868-875 (2010).
6. Tenzen, T., Zembowicz, F. & Cowan, C. A. Genome modification in human embryonic stem cells. J. Cell. Physiol. 222, 278-281 (2010).
7. Urnov, F. D., Rebar, E. J.,Holmes, M. C., Zhang, H.S.&Gregory, P. D.Genome editing with engineered zinc finger nucleases. Nature Rev. Genet. 11, 636-646 (2010).
8. Yusa, K., Zhou, L., Li, M. A., Bradley, A. & Craig, N. L. A hyperactive piggyBac transposase for mammalian applications. Proc. Natl Acad. Sci. USA 108, 1531-1536 (2011).
9. Wang, W. et al. Chromosomal transposition of PiggyBac inmouse embryonic stem cells. Proc. Natl Acad. Sci. USA 105, 9290-9295 (2008).
10. Hockemeyer, D. et al. Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases. Nature Biotechnol. 27, 851-857 (2009).
11. van der Weyden, L., Adams, D. J. & Bradley, A. Tools for targeted manipulation of the mouse genome. Physiol. Genomics 11, 133-164 (2002).
12. Meier, I. D. et al. Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression. FASEB J. 24, 1714-1724 (2010).
13. Lacoste, A., Berenshteyn, F. & Brivanlou, A. H. An efficient and reversible transposable system for gene delivery and lineage-specific differentiation in human embryonic stem cells. Cell Stem Cell 5, 332-342 (2009).
14. Fraser, M. J., Ciszczon, T., Elick, T. & Bauser, C. Precise excision of TTAA-specific lepidopteran transposons piggyBac (IFP2) and tagalong (TFP3) from the baculovirus genome in cell lines from two species of Lepidoptera. Insect Mol. Biol. 5, 141-151 (1996).
15. Yusa, K., Rad, R., Takeda, J. & Bradley, A. Generation of transgene-free induced pluripotent mouse stem cells by the piggyBac transposon. Nature Methods 6, 363-369 (2009).
16. Rashid, S. T. et al. Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. J. Clin. Invest. 120, 3127-3136 (2010).
17. Perlmutter, D. H. Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in a-1-antitrypsin deficiency. Cell Death Differ. 16, 39-45 (2009).
18. Gooptu, B. & Lomas, D. A. Conformational pathology of the serpins: themes, variations, and therapeutic strategies. Annu. Rev. Biochem. 78, 147-176 (2009).
19. Zou, J. et al.Gene targeting of a disease-related gene inhuman induced pluripotent stem and embryonic stem cells. Cell Stem Cell 5, 97-110 (2009).
20. Mitalipova, M. M. et al. Preserving the genetic integrity of human embryonic stem cells. Nature Biotechnol. 23, 19-20 (2005). (Pubitemid 41724618)
21. Baker, D. E. et al. Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nature Biotechnol. 25, 207-215 (2007). (Pubitemid 46227120)
22. Lefort, N. et al.Humanembryonic stemcells reveal recurrent genomicinstability at 20q11.21. Nature Biotechnol. 26, 1364-1366 (2008).
23. Spits, C. et al. Recurrent chromosomal abnormalities in human embryonic stem cells. Nature Biotechnol. 26, 1361-1363 (2008).
24. Touboul, T. et al. Generation of functional hepatocytes from human embryonic stem cells under chemically defined conditions that recapitulate liver development. Hepatology 51, 1754-1765 (2010).
25. Fusaki, N., Ban, H., Nishiyama, A., Saeki, K. & Hasegawa, M. Efficient induction of transgene-free humanpluripotent stemcells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome. Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci. 85, 348-362 (2009).
26. Watanabe, K. et al. A ROCK inhibitor permits survival of dissociated human embryonic stem cells. Nature Biotechnol. 25, 681-686 (2007). (Pubitemid 46897207)
27. Cadinanos, J. & Bradley, A. Generation of an inducible and optimized piggyBac transposon system. Nucleic Acids Res. 35, e87 (2007).
28. Skarnes, W. C. et al. A conditional knockout resource for the genome-wide study of mouse gene function. Nature 474, 337-342 (2011).
29. Liu, P., Jenkins, N. A. & Copeland, N. G. A highly efficient recombineering-based method for generating conditional knockout mutations. Genome Res. 13, 476-484 (2003). (Pubitemid 36395405)
30. Urnov, F. D. et al. Highly efficient endogenous human gene correction using designed zinc-finger nucleases. Nature 435, 646-651 (2005). (Pubitemid 40825505)
31. Beerli, R. R. & Barbas, C. F. III Engineering polydactyl zinc-finger transcription factors. Nature Biotechnol. 20, 135-141 (2002). (Pubitemid 34158028)
32. Pavletich, N. P. & Pabo, C. O. Zinc finger-DNA recognition: crystal structure of a Zif268-DNA complex at 2.1A? . Science 252, 809-817 (1991). (Pubitemid 121000517)
33. Guschin, D. Y. et al. A rapid and general assay for monitoring endogenous gene modification. Methods Mol. Biol. 649, 247-256 (2010).
34. Varela, I. et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 469, 539-542 (2011).
35. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
36. Seki, T. et al. Generation of induced pluripotent stemcells from human terminally differentiated circulating T cells. Cell Stem Cell 7, 11-14 (2010).