Recent advances in ex vivo gene therapy for xeroderma pigmentosum patients

References

• Bergoglio V, Magnaldo T. Nucleotide excision repair and related human diseases. Genome Dyn. 1, 35–52 (2006).
   PubMedGoogle Scholar
• Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature 218(5142), 652–656 (1968).
   PubMed Web of Science ®Google Scholar
• Bohr VA, Smith CA, Okumoto DS, Hanawalt PC. DNA repair in an active gene: removal of pyrimidine dimers from the DHFR gene of CHO cells is much more efficient than in the genome overall. Cell 40(2), 359–369 (1985).
   PubMed Web of Science ®Google Scholar
• Fréchet M, Bergoglio V, Chevallier-Lagente O, Sarasin A, Magnaldo T. Complementation assays adapted for DNA repair-deficient keratinocytes. Methods Mol. Biol. 314, 9–23 (2006).
   PubMedGoogle Scholar
• Soufir N, Ged C, Bourillon A et al. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J. Invest. Dermatol. 130(6), 1537–1542 (2010).
   PubMed Web of Science ®Google Scholar
• Nardo T, Oneda R, Spivak G et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc. Natl Acad. Sci. USA 106(15), 6209–6214 (2009).
   PubMedGoogle Scholar
• Cartault F, Nava C, Malbrunot AC et al. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients. DNA Repair (Amst.) 10(6), 577–585 (2011).
   PubMed Web of Science ®Google Scholar
• Hadj-Rabia S, Oriot D, Soufir N et al. Unexpected extradermatological findings in 31-xeroderma pigmentosum type C patients. Br. J. Dermatol. 168(5), 1109–1113 (2012).
   Google Scholar
• Sage E. Distribution and repair of photolesions in DNA: genetic consequences and the role of sequence context. Photochem. Photobiol. 57(1), 163–174 (1993).
   PubMed Web of Science ®Google Scholar
• Rochette PJ, Therrien JP, Drouin R et al. UVA-induced cyclobutane pyrimidine dimers form predominantly at thymine-thymine dipyrimidines and correlate with the mutation spectrum in rodent cells. Nucleic Acids Res. 31(11), 2786–2794 (2003).
   PubMed Web of Science ®Google Scholar
• Mouret S, Baudouin C, Charveron M, Favier A, Cadet J, Douki T. Cyclobutane pyrimidine dimers are predominant DNA lesions in whole human skin exposed to UVA radiation. Proc. Natl Acad. Sci. USA 103(37), 13765–13770 (2006).
   PubMed Web of Science ®Google Scholar
• Luijsterburg MS, Lindh M, Acs K et al. DDB2 promotes chromatin decondensation at UV-induced DNA damage. J. Cell Biol. 197(2), 267–281 (2012).
   PubMedGoogle Scholar
• Sarasin A. An overview of the mechanisms of mutagenesis and carcinogenesis. Mutat. Res. 544(2–3), 99–106 (2003).
   PubMed Web of Science ®Google Scholar
• Sarasin A, Blanchet-Bardon C, Renault G, Lehmann A, Arlett C, Dumez Y. Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair. Br. J. Dermatol. 127(5), 485–491 (1992).
   PubMed Web of Science ®Google Scholar
• Herlin C, Saunière D, Huertas D. Xeroderma pigmentosum: radical therapeutic procedure on the face using artificial skin. Ann. Chir. Plast. Esthet. 54(6), 594–599 (2009).
   PubMedGoogle Scholar
• Kraemer KH, DiGiovanna JJ, Peck GL. Chemoprevention of skin cancer in xeroderma pigmentosum. J. Dermatol. 19(11), 715–718 (1992).
   PubMedGoogle Scholar
• Yarosh D, Klein J, O’Connor A, Hawk J, Rafal E, Wolf P. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: a randomised study. Xeroderma Pigmentosum Study Group. Lancet 357(9260), 926–929 (2001).
   PubMed Web of Science ®Google Scholar
• Fuchs E, Raghavan S. Getting under the skin of epidermal morphogenesis. Nat. Rev. Genet. 3(3), 199–209 (2002).
   PubMed Web of Science ®Google Scholar
• Rochat A, Kobayashi K, Barrandon Y. Location of stem cells of human hair follicles by clonal analysis. Cell 76(6), 1063–1073 (1994).
   PubMed Web of Science ®Google Scholar
• Rheinwald JG, Green H. Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell 6(3), 331–343 (1975).
   PubMed Web of Science ®Google Scholar
• Barrandon Y, Green H. Three clonal types of keratinocyte with different capacities for multiplication. Proc. Natl Acad. Sci. USA 84(8), 2302–2306 (1987).
   PubMed Web of Science ®Google Scholar
• Gallico GG 3rd, O’Connor NE, Compton CC, Kehinde O, Green H. Permanent coverage of large burn wounds with autologous cultured human epithelium. N. Engl. J. Med. 311(7), 448–451 (1984).
   PubMed Web of Science ®Google Scholar
• Ronfard V, Rives JM, Neveux Y, Carsin H, Barrandon Y. Long-term regeneration of human epidermis on third degree burns transplanted with autologous cultured epithelium grown on a fibrin matrix. Transplantation 70(11), 1588–1598 (2000).
   PubMed Web of Science ®Google Scholar
• Mavilio F, Pellegrini G, Ferrari S et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med. 12(12), 1397–1402 (2006).
   PubMed Web of Science ®Google Scholar
• 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. 15(9), 1670–1676 (2007).
   PubMed Web of Science ®Google Scholar
• Warrick E, Garcia M, Chagnoleau C et al. Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells. Mol. Ther. 20(4), 798–807 (2012).
   PubMed Web of Science ®Google Scholar
• Mavilio F, Pellegrini G, Ferrari S et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med. 12(12), 1397–1402 (2006).
   PubMed Web of Science ®Google Scholar
• Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J. Invest. Dermatol. 131(10), 2069–2078 (2011).
   PubMedGoogle Scholar
• Khan SG, Oh KS, Shahlavi T et al. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27(1), 84–94 (2006).
   PubMedGoogle Scholar
• Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288(5466), 669–672 (2000).
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, Von Kalle C, Schmidt M et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302(5644), 415–419 (2003).
   PubMed Web of Science ®Google Scholar
• Maruggi G, Porcellini S, Facchini G et al. Transcriptional enhancers induce insertional gene deregulation independently from the vector type and design. Mol. Ther. 17(5), 851–856 (2009).
   PubMed Web of Science ®Google Scholar
• Magnaldo T, Barrandon Y. CD24 (heat stable antigen, nectadrin), a novel keratinocyte differentiation marker, is preferentially expressed in areas of the hair follicle containing the colony-forming cells. J. Cell. Sci. 109(Pt 13), 3035–3045 (1996).
   PubMed Web of Science ®Google Scholar
• Bergoglio V, Larcher F, Chevallier-Lagente O et al. Safe selection of genetically manipulated human primary keratinocytes with very high growth potential using CD24. Mol. Ther. 15(12), 2186–2193 (2007).
   PubMed Web of Science ®Google Scholar
• Fréchet M, Warrick E, Vioux C et al. Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. Oncogene 27(39), 5223–5232 (2008).
   PubMedGoogle Scholar