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

Nature Genetics

Volumn 12, Issue 3, 1996, Pages 266-273

  Overturf, Ken ^a   Al Dhalimy, Muhsen ^a   Tanguay, Robert ^b   Brantly, Mark ^c   Ou, Ching Nan ^d   Finegold, Milton ^d   Grompe, Markus ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITÉ LAVAL   (Canada)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL MODEL; ARTICLE; GENE EXPRESSION; GENE THERAPY; GENE TRANSFER; LIVER CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; TYROSINEMIA;

AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; CELL COUNT; CELL TRANSPLANTATION; CYCLOHEXANONES; DISEASE MODELS, ANIMAL; ENZYME INHIBITORS; GENE THERAPY; HUMANS; HYDROLASES; IMMUNOENZYME TECHNIQUES; LIVER; LIVER FUNCTION TESTS; LIVER NEOPLASMS; MALE; MICE; MICE, INBRED C57BL; NITROBENZOATES; RETROVIRIDAE; TYROSINE;

EID: 0029875835     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0396-266     Document Type: Article

References (51)

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 Inhented Disease (MacGraw-Hill, New York, 1994).
3. Norwich, A L. Inherited hepatic enzyme defects as candidates for liver-directed gene therapy. Curr. Topics Microbiol. Immun. 168, 165-200 (1991).
4. Grossman, M. & Wilson, J.M. Relroviruses. delivery vehicle to the liver. Curr. Opin. Genet. Dev. 3, 110-114 (1993).
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).
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).
7. Lindblad, B., Lindstedt, S. & Steen, G. On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad. Sci USA 74, 4641-4645 (1977).
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).
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).
10. Klebig, M.L , Russell, L.B. & Rinchik, E.M. Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethat albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus Proc. Natl. Acad Sci. USA 89, 1363-1367 (1992).
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).
12. Gluecksohn-Waelsch, S. Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse. Cell. 16, 225-237 (1979).
13. Ruppert, S. et al. Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes. Cell 61, 895-904 (1990).
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).
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).
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).
17. Paradis, K et al. Liver transplantation for hereditary tyrosinemia: the Quebec experience. Am. J. Hum Genet 47, 338-342 (1990).
18. Kvittingen, E.A., Rootweil, 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).
19. Kvittingen, E.A., Rootwelt, H., Berger, R & Brandtzaeg, P Self-induced correction of the genetic defect in tyrosinemia type I J. Clin. Invest. 94, 1657-1661 (1994)
20. Sandgren, E.P. et al. Complete hepatic regeneration after somatic deletion of an albumin-plasminogen activator transgene. Cell 66, 245-256 (1991).
21. Rhim, J.A., Sandgren, E.P., Degen, J.L. & Brinster, R.L. Replacement of disease mouse liver by hepatic cell transplantation. Science 263, 1149-1152 (1994).
22. Rhim, J A., Sandgren, E.P., Palmiter, R.D. & Brinster, R L. Complete reconstitution of mouse liver with xenogeneic hepatocytes. Proc. Natl. Acad. Sci USA 92, 4942-4946 (1995).
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).
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).
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).
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).
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. 55, 59-68 (1994).
28. Russo, P. & O'Regan, S. Visceral pathology of hereditary tyrosinemia type I. Am. J. Hum. Genet. 47, 317-324 (1990).
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).
30. Fausto, N. In The Liver - Biology and Pathobiology. (ed Arias, I.M.) 1501-1518 (Raven Press, New York, 1994).
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).
32. Lemischka, I.R., Raulet, D H. & Mulligan, R.C. Developmental potential and dynamic behavior of hematopoietic stem cells. Cell. 45, 917-927 (1986)
33. Cepko, C L , Ryder, E F , Austin, C.P., Walsh, C. & Fekete, D.M Lineage analysis using retrovirus vectors. Meth. Enzym. 225, 933-960 (1993).
34. Grompe, M., Jones, S.N., Loulseged, H & Caskey, C.T. Retroviral-mediated gene transfer of human omithine transcarbamylase into primary hepatocytes of spf and spf-ash mice. Hum. Gene Ther. 3, 35-44 (1992).
35. Ponder, K.P. et al. Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc. Natl. Acad Sci. USA 88, 1217-1221 (1991)
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).
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).
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).
39. Markowitz, D., Goff, S. & Bank, A Construction and use of a safe and efficient amphotropic packaging cell line Virology 167, 400-406 (1988)
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).
42. Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem 162, 156-159 (1987).
43. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1989).
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).
45. Davis, R.L., Weintraub, H. & Lassar, A.B. Expression of a single transfected cDNA converts fibroblasts to myoblasts Cell 51, 987-1000 (1987).
46. Grompe, M. & al-Dhalimy, M. Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase. Biochem. Med Metab. Biol. 48, 26-31 (1992).
47. Grenier, A. & Lescault, A. In Methods of Enzymatic Analysis (ed. Bergmeyer, H.) 79 (VCH Verlagsgesellschaft, Weinheim, FR Germany, 1985).
48. Knox, W E. & Edwards, S.W Enzymes involved in conversion of tyrosine to acetoacetate. Meth. Enzym. 2, 287-300 (1955).
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)
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).
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).