Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I (original) (raw)

References

  1. Arias, I.M. The Liver — Biology and Pathobiology (Raven Press, New York, 1994).
  2. Scriver, C.R., Beaudet, A.L., Sly, W. & Valle, D. The Metabolic Basis of Inherited Disease (MacGraw-Hill, NewYork 1994).
    Google Scholar
  3. Norwich, A.L. Inherited hepatic enzyme defects as candidates for liver-directed gene therapy. Curr. Topics Microbiol. Immun. 168, 185–200 (1991).
    Google Scholar
  4. Grossman, M. & Wilson, J.M. Retroviruses: delivery vehicle to the liver. Curr. Opin. Genet Dev. 3, 110–114 (1993).
    Article CAS PubMed Google Scholar
  5. Li, Q., Kay, M.A., Finegold, M., Stratford-Perricaudet, L.D. & Woo, S.L. Assessment of recombinant adenoviral vectors for hepatic gene therapy. Hum. Gene Ther. 4, 403–409 (1993).
    Article CAS PubMed Google Scholar
  6. Yang, Y. et al. Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc. Natl. Acad. Sci. USA 91, 4407–4411 (1994).
    Article CAS PubMed PubMed Central Google Scholar
  7. Lindblad, B., Lindstedt, S. & Steen, G. On the enzymic defects in hereditary tyrosinemia. Proc. Natl. Acad. Sci. USA 74, 4641–4645 (1977).
    Article CAS PubMed PubMed Central Google Scholar
  8. Mitchell, G.A., Lambert, M. & Tanguay, R.M. in The Metabolic Basis of Inherited Disease. (eds Scriver, C.R., Beaudet, A.L., Sly, W. & Valle, D.) 1077–1106 (MacGraw-Hill, New York, 1994).
    Google Scholar
  9. Grompe, M. et al. Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev. 7, 2298–2307 (1993).
    Article CAS PubMed Google Scholar
  10. Klebig, M.L., Russell, L.B. & Rinchik, E.M. Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr–1) locus. Proc. Natl. Acad. Sci. USA 89, 1363–1367 (1992).
    Article CAS PubMed PubMed Central Google Scholar
  11. Ruppert, S. et al. Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Genes Dev. 6, 1430–1443 (1992).
    Article CAS PubMed Google Scholar
  12. Gluecksohn-Waelsch, S. Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse. Cell. 16, 225–237 (1979).
    Article CAS PubMed Google Scholar
  13. Ruppert, S. et al. Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes. Cell 61, 895–904 (1990).
    Article CAS PubMed Google Scholar
  14. Lindstedt, S., Holme, E., Lock, E.A., Hjalmarson, O. & Strandvik, B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340, 813–817 (1992).
    Article CAS PubMed Google Scholar
  15. Grompe, M. et al. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Nature Genet. 10, 453–460 (1995).
    Article CAS PubMed Google Scholar
  16. Bain, M.D. et al. Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinemia type I. Eur. J. Pediatr. 149, 637–639 (1990).
    Article CAS PubMed Google Scholar
  17. Paradis, K. et al. Liver transplantation for hereditary tyrosinemia: the Quebec experience. Am. J. Hum. Genet. 47, 338–342 (1990).
    CAS PubMed PubMed Central Google Scholar
  18. Kvittingen, E.A., Rootwelt, H., Brandtzaeg, P., Bergan, A. & Berger, R. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. J. Clin. Invest. 91, 1816–1821 (1993).
    Article CAS PubMed PubMed Central Google Scholar
  19. Kvittingen, E.A., Rootwelt, H., Berger, R. & Brandtzaeg, R. Self-induced correction of the genetic defect in tyrosinemia type I. J. Clin. Invest. 94, 1657–1661 (1994).
    Article CAS PubMed PubMed Central Google Scholar
  20. Sandgren, E.P. et al. Complete hepatic regeneration after somatic deletion of an alburnin-plasminogen activator transgene. Cell 66, 245–256 (1991).
    Article CAS PubMed Google Scholar
  21. Rhim, J.A., Sandgren, E.R., Degen, J.L. & Brinster, R.L. Replacement of disease mouse liver by hepatic cell transplantation. Science 263, 1149–1152 (1994).
    Article CAS PubMed Google Scholar
  22. Rhim, J.A., Sandgren, E.R., Palmiter, R.D. & Brinster, R.L. Complete reconstitution of mouse liver with xenogeneic hepatocytes. Proc. Natl. Acad. Sci. USA 92, 4942–4946 (1995).
    Article CAS PubMed PubMed Central Google Scholar
  23. Kay, M.A. et al. Expression of human alpha 1-antitrypsin in dogs after autologous transplantation of retroviral transduced hepatocytes. Proc. Natl. Acad. Sci. USA 89, 89–93 (1992).
    Article CAS PubMed PubMed Central Google Scholar
  24. Grossman, M. et al. Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolemia. Nature Genet. 6, 335–341 (1994).
    Article CAS PubMed Google Scholar
  25. Chowdhury, J.R. et al. Long-term improvement of hypercholesterolemia after ex vivo gene therapy in LDLR-deficient rabbits. Science. 254, 1802–1805 (1991).
    Article CAS PubMed Google Scholar
  26. Kay, M.A. et al. In vivo gene therapy of hemophilia B: sustained partial correction in factor IX-deficient dogs. Science 262, 117–119 (1993).
    Article CAS PubMed Google Scholar
  27. Hirschhorn, R., Yang, D.R., Israni, A., Huie, M.L. & Ownby, D.R. Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am. J. Hum. Genet. 56, 59–68 (1994).
    Google Scholar
  28. Russo, P. & O'Regan, S. Visceral pathology of hereditary tyrosinemia type I Am. J. Hum. Genet. 47, 317–324 (1990).
    CAS PubMed Google Scholar
  29. Gerber, M.A. & Thung, S.N. in The role of cell types in hepatocarcinogenesis. (ed. Sirica, A.E.) 209–226 (CRC Press, Boca Raton, 1992).
    Google Scholar
  30. Fausto, N., In The Liver — Biology and Pathobiology. (ed. Arias, I.M.) 1501–1518 (Raven Press, New York, 1994).
    Google Scholar
  31. Becker, A.F., McCulloch, E.A. & Till, J.E. Cytological demonstration of the clonal nature of spleen colonies derived from transplanted mouse marrow cells. Nature 197, 452–455 (1963).
    Article CAS PubMed Google Scholar
  32. Lemischka, I.R., Raulet, D.H. & Mulligan, R.C. Developmental potential and dynamic behavior of hematopoietic stem cells. Cell 45, 917–927 (1986).
    Article CAS PubMed Google Scholar
  33. Cepko, C.L., Ryder, E.F., Austin, C.R., Walsh, C. & Fekete, D.M. Lineage analysis using retrovirus vectors. Mefn. Enzym. 225, 933–960 (1993).
    CAS Google Scholar
  34. Grompe, M., Jones, S.N., Loulseged, H. & Caskey, C.T. Retroviral-mediated gene transfer of human ornithine transcarbamylase into primary hepatocytes of spf and spf-ash mice. Hum. Gene Ther. 3, 35–44 (1992).
    Article CAS PubMed Google Scholar
  35. Ponder, K.R. et al. Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc. Natl. Acad. Sci. USA 88, 1217–1221 (1991).
    Article CAS PubMed PubMed Central Google Scholar
  36. Phaneuf, D. et al. Cloning and expression of the cDNA encoding human fumarylacetoacetae hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am. J. Hum. Genet. 48, 525–535 (1991).
    CAS PubMed PubMed Central Google Scholar
  37. McLachlin, J.R., Mittereder, N., Daucher, M.B., Kadan, M. & Eglitis, M.A. Factors affecting retroviral vector function and structural integrity. Virology 195, 1–5 (1993).
    Article CAS PubMed Google Scholar
  38. Markowitz, D., Goff, S. & Bank, A. A safe packaging line for gene transfer: separating viral genes on two different plasmids. J. Virol. 62, 1120–1124 (1988).
    CAS PubMed PubMed Central Google Scholar
  39. Markowitz, D., Goff, S. & Bank, A. Construction and use of a safe and efficient amphotropic packaging cell line. Virology 167, 400–406 (1988).
    Article CAS PubMed Google Scholar
  40. Vrancken Peeters, M.J., Lieber, A., Perkins, J. & Kay, M.A. Method for multiple portal vein infusions in mice: quantitation of adenovirus-mediated hepatic gene transfer. Biotechniques (in the press).
  41. Miller, S.A., Dykes, D.D. & Polesky, H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16, 1215 (1988).
    Article CAS PubMed PubMed Central Google Scholar
  42. Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156–159 (1987).
    Article CAS PubMed Google Scholar
  43. Sambrook, J., Fritsch, E.R. & Maniatis, T., Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1989).
    Google Scholar
  44. Gubbay, J. et al. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346, 245–250 (1990).
    Article CAS PubMed Google Scholar
  45. Davis, R.L., Weintraub, H. & Lassar, A.B. Expression of a single transfected cDNA converts fibroblasts to myoblasts. Cell 51, 987–1000 (1987).
    Article CAS PubMed Google Scholar
  46. Grompe, M. & al-Dhalimy, M. Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase. Biochem. Med. Metab. Biol. 48, 26–31 (1992).
    Article CAS PubMed Google Scholar
  47. Grenier, A. & Lescault, A., Methods of Enzymatic Analysis. (ed. Bergmeyer, H.) 79 (VCH Verlagsgesellschaft, Weinheim, F.R. Germany, 1985).
    Google Scholar
  48. Knox, W.E. & Edwards, S.W. Enzymes involved in conversion of tyrosine to acetoacetate. Meth. Enzym. 2, 287–300 (1955).
    Article CAS Google Scholar
  49. Bradford, M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.Anal. Biochem. 72, 248–254 (1976).
    Article CAS PubMed Google Scholar
  50. Tanguay, R.M. et al. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am. J. Hum. Genet. 47, 308–316 (1990).
    CAS PubMed PubMed Central Google Scholar
  51. Labelle, Y.,, Puymirat, J. & Tanguay, R.M. Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1. Biochim. Biophys. Acta. 1180, 250–256 (1993).
    Article CAS PubMed Google Scholar

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