Prion protein genes and prion diseases: Studies in transgenic mice

Neuropathology and Applied Neurobiology

Volumn 26, Issue 3, 2000, Pages 209-220

  Telling, G C ^a  

^a UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Prions; Transgenic mice

Indexed keywords

PRION PROTEIN;

DISEASE MODEL; GENE; KNOCKOUT GENE; MOUSE; NONHUMAN; PATHOGENESIS; PRION DISEASE; PRIORITY JOURNAL; PROTEIN STRUCTURE; REVIEW; STRUCTURE ACTIVITY RELATION; TRANSGENIC MOUSE;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, TRANSGENIC; PRION DISEASES; PRIONS;

EID: 0034046695     PISSN: 03051846     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2990.2000.00253.x     Document Type: Review

References (72)

1. 1 Basler K, Oesch B, Scott M et al. Scrapie and cellular PrP isoforms are encoded by the same chromosomal gene. Cell 1986; 46: 417-28
2. 2 Bessen RA, Marsh RF. Biochemical and physical properties of the prion protein from two strains of the transmissible mink encephalopathy agent. J Virol 1992; 66: 2096-101
3. 3 Billeter M, Riek R, Wider G, Hornemann S, Glockshuber R, Wuthrich K. Prion protein NMR structure and species barrier for prion diseases. Proc Natl Acad Sci USA 1997; 94: 7281-5
4. 4 Bosque P, Telling G, Cayetano J, DeArmond S, Prusiner S. Evidence for prion replication in skeletal muscle. American Neurological Association, 122nd Meeting, September, 1997
5. 5 Brown DR, Qin K, Herms JW et al. The cellular prion protein binds copper in vivo. Nature 1997; 390: 684-7
6. 6 Brown DR, Schulz-Schaeffer WJ, Schmidt B, Kretzschmar HA. Prion protein-deficient cells show altered response to oxidative stress due to decreased SOD-1 activity. Exp Neurol 1997; 146: 104-12
7. 7 Bruce ME, Dickinson AG. Biological evidence that scrapie agent has an independent genome. J Gen Virol 1987; 68: 79-89
8. 8 Bueler H, Fischer M, Lang Y et al. Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein. Nature 1992; 356: 577-82
9. 9 Bueler H, Aguzzi A, Sailer A et al. Mice devoid of PrP are resistant to scrapie. Cell 1993; 73: 1339-47
10. Sc levels but delayed onset of disease in scrapie-innoculated mice heterozygous for a disrupted PrP gene. Mol Med 1995; 1: 19-30
11. 11 Carlson GA, Kingsbury DT, Goodman PA et al. Linkage of prion protein and scrapie incubation time genes. Cell 1986; 46: 503-11
12. 12 Chiesa R, Piccardo P, Ghetti B, Harris DA. Neurological illness in transgenic mice expressing a prion protein with an insertional mutation. Neuron 1998; 21: 1339-51
13. 13 Cohen FE, Pan K-M, Huang Z, Baldwin M, Fletterick RJ, Prusiner SB. Structural clues to prion replication. Science 1994; 264: 530-1
14. 14 Collinge J, Whittington MA, Sidle KCL et al. Prion protein is necessary for normal synaptic function. Nature 1994; 370: 295-7
15. 15 Collinge J, Palmer MS, Sidle KCL et al. Transmission of fatal familial insomnia to laboratory animals. Lancet 1995; 346: 569-70
16. 16 Collinge J, Palmer MS, Sidle KCL et al. Unaltered susceptibility to BSE in transgenic mice expressing human prion protein. Nature 1995; 378: 779-83
17. 17 Collinge J, Sidle KCL, Meads J, Ironside J, Hill AF. Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature 1996; 383: 685-90
18. 18 DeArmond SJ, Sánchez H, Yehiely H et al. Selective neuronal targeting in prion disease. Neuron 1997; 19: 1337-48
19. 19 Diedrich JF, Bendheim PE, Kim YS, Carp RI, Haase AT. Scrapie-associated prion protein accumulates in astrocytes during scrapie infection. Proc Natl Acad Sci USA 1991; 88: 375-9
20. 20 Fischer M, Rulicke T, Raber A et al. Prion protein (PrP) with amino terminal deletions restoring susceptibility of PrP knockout mice to scrapie. EMBO J 1996; 15: 1255-64
21. 21 Fraser H, Bruce ME, Chree A, McConnell I, Wells GA. Transmission of bovine spongiform encephalopathy and scrapie to mice. J Gen Virol 1992; 73: 1891-7
22. 22 Hegde RS, Mastrianni JA, Scott MR et al. A transmembrane from of the prion protein in neurodegenerative disease. Science 1998; 279: 827-34
23. 23 Herms JW, Kretzschmar HA, Titz S, Keller BU. Patchclamp analysis of synaptic transmission to cerebellar Purkinje cells of prion protein knockout mice. Eur J Neurosci 1995; 7: 2508-12
24. 24 Hill AF, Desbruslais M, Joiner S, Sidle KCL, Gowland I, Collinge J. The same prion strain causes vCJD and BSE. Nature 1997; 389: 448-50
25. 25 Hsiao KK, Scott M, Foster D, Groth DF, DeArmond SJ, Prusiner SB. Spontaneous neurodegeneration in transgenic mice with mutant prion protein. Science 1990; 250: 1587-90
26. 26 Hsiao KK, Groth D, Scott M et al. Serial transmission in rodents of neurodegeneration from transgenic mice expressing mutant prion protein. Proc Natl Acad Sci 1994; 91: 9126-30
27. 27 James TL, Liu H, Ulyanov NB et al. Solution structure of a 142-residue recombinant prion protein corresponding to the infectious fragment of the scrapie isoform. Proc Natl Acad Sci USA 1997; 94: 10086-91
28. 28 Kaneko K, Zulianello L, Scott M et al. Evidence for protein X binding to a discontinuous epitope on the cellular prion protein during scrapie prion propagation. Proc Natl Acad Sci USA 1997; 94: 10069-74
29. 29 Kretzschmar HA, Prusiner SB, Stowring LE, DeArmond SJ. Scrapie prion proteins are synthesized in neurons. Am J Pathol 1986; 122: 1-5
30. 30 Lledo P, Tremblay P, DeArmond SJ, Prusiner SB, Nicoll RA. Mice deficient for prion protein exhibit normal neuronal excitability and synaptic transmission in the hippocampus. Neurobiol 1996; 93: 2403-7
31. 31 Locht C, Chesebro B, Race R, Keith JM. Molecular cloning and complete sequence of prion protein cDNA from mouse brain infected with the scrapie agent. Proc Natl Acad Sci USA 1986; 83: 6372-6
32. 32 Manson JC, Clarke AR, Hooper ML, Aitchison L, McConnell I, Hope J. 129/OIa mice carrying a null mutation in PrP that abolishes mRNA production are developmentally normal. Mol Neurobiol 1994; 8: 121-7
33. 33 Manson JC, Clarke AR, McBride PA, McConnell I, Hope J. PrP gene dosage determines the timing but not the final intensity or distribution of lesions in scrapie pathology. Neurodegen 1994; 3: 331-40
34. 34 Monari L, Chen SG, Brown P et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci USA 1994; 91: 2839-42
35. 35 Moore RC, Hope J, McBride PA et al. Mice with gene targetted prion protein alterations show that Prnp, Sinc and Prni are congruent. Nat Genet 1998; 18: 118-25
36. 36 Moser M, Colello RJ, Pott U, Oesch B. Developmental expression of the prion protein gene in glial cells. Neuron 1995; 14: 509-17
37. 37 Muramoto T, Scott M, Cohen FE, Prusiner SB. Recombinant scrapie-like prion protein of 106 amino acids is soluble. Proc Natl Acad Sci USA 1996; 93: 15457-62
38. 38 Muramoto T, DeArmond SJ, Scott M, Telling GC, Cohen FE, Prusiner SB. Heritable disorder resembling neuronal storage disease in mice expressing prion protein with deletion of an α-helix. Nat Med 1997; 3: 750-5
39. 39 Pan K, Baldwin MA, Nguyen J et al. Conversion of α-helices into β-sheets features in the formation of the scrapie prion proteins. Proc Natl Acad Sci USA 1993; 90: 10962-6
40. 40 Parchi P, Castellani R, Capellari S et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996; 39: 669-80
41. 41 Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science 1982; 216: 136-44
42. 42 Prusiner SB, Scott M, Foster D et al. Transgenetic studies implicate interactions between homologous PrP isoforms in scrapie prion replication. Cell 1990; 63: 673-86
43. 43 Prusiner SB, Groth D, Serban A et al. Ablation of the prion protein (PrP) gene in mice prevents scrapie and facilitates production of anti-PrP antibodies. Proc Natl Acad Sci USA 1993; 90: 10608-12
44. 44 Race RE, Priola SA, Bessen RA et al. Neuron-specific expression of a hamster prion protein minigene in transgenic mice induces susceptibility to hamster scrapie agent. Neuron 1995; 15: 1183-91
45. 45 Raeber AJ, Race RE, Brandner S et al. Astrocyte-specific expression of hamster prion protein (PrP) renders PrP knockout mice susceptible to hamster scrapie. EMBO J 1997; 16: 6057-65
46. 46 Raeber AJ, Sailer A, Hegyi I et al. Ectopic expression of prion protein (PrP) in T lymphocytes or hepatocytes of PrP knockout mice is insufficient to sustain prion replication. Proc Natl Acad Sci USA 1999; 96: 3987-92
47. 47 Riek R, Hornemann S, Wider G, Billeter M, Glockshuber R, Wuthrich K. NMR structure of the mouse prion protein domain PrP (121-231). Nature 1996; 382: 180-2
48. 48 Riek R, Hornemann S, Wider G, Glockshuber R, Wuthrich K. NMR characterization of the full-length recombinant murine prion protein, mPrP (23-231). FEBS Lett 1997; 413: 282-8
49. 49 Sakaguchi S, Katamine S, Shigematsu K et al. Accumulation of proteinase K-resistant prion protein (PrP) is restricted by the expression level of normal PrP in mice inoculated with a mouse-adapted strain of the Creutzfeldt-Jakob disease agent. J Virol 1995; 69: 7586-92
50. 50 Sakaguchi S, Katamine S, Nishida N et al. Loss of cerebellar Purkinje cells in aged mice homozygous for a disrupted PrP gene. Nature 1996; 380: 528-31
51. 51 Scott M, Foster D, Mirenda C et al. Transgenic mice expressing hamster prion protein produce species-specific scrapie infectivity and amyloid plaques. Cell 1989; 59: 847-57
52. 52 Scott M, Groth D, Foster D et al. Propagation of prions with artificial properties in transgenic mice expressing chimeric PrP genes. Cell 1993; 73: 979-88
53. 53 Scott MR, Kohler R, Foster D, Prusiner SB. Chimeric prion protein expression in cultured cells and transgenic mice. Prot Sci 1992; 1: 986-97
54. 54 Scott MR, Groth D, Tatzelt J et al. Propagation of prion strains through specific conformers of the prion protein. J Virol 1997; 71: 9032-44
55. 55 Scott MR, Safar J, Telling G et al. Identification of a prion protein epitope modulating transmission of bovine spongiform encephalopathy prions to transgenic mice. Proc Natl Acad Sci USA 1997; 94: 14279-84
56. 56 Shmerling D, Hegyi I, Fischer M et al. Expression of amino-terminally truncated PrP in the mouse leading to ataxia and specific cerebellar lesions. Cell 1998; 93: 203-14
57. 57 Stahl N, Borchelt DR, Hsiao K, Prusiner SB. Scrapie prion protein contains a phosphatidylinositol glycolipid. Cell 1987; 51: 229-40
58. 58 Supattapone S, Bosque P, Muramoto T et al. Prion protein of 106 residues creates an artificial transmission barrier for prion replication in transgenic mice. Cell 1999; 96: 869-78
59. 59 Tatzelt J, Zuo J, Voellmy R et al. Scrapie prions selectively modify the stress response in neuroblastoma cells. Proc Natl Acad Sci USA 1995; 92: 2944-8
60. 60 Telling GC, Scott M, Hsiao KK et al. Transmission of Creutzfeldt-Jakob disease from humans to transgenic mice expressing chimeric human-mouse prion protein. Proc Natl Acad Sci USA 1994; 91: 9936-40
61. 61 Telling GC, Scott M, Mastrianni J et al. Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein. Cell 1995; 83: 79-90
62. 62 Telling GC, Haga T, Torchia M, Tremblay P, DeArmond SJ, Prusiner SB. Interactions between wild-type and mutant prion proteins modulate neurodegeneration transgenic mice. Genes Dev 1996; 10: 1736-50
63. 63 Telling GC, Parchi P, DeArmond SJ et al. Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 1996; 274: 2079-82
64. 64 Telling GC, Tremblay P, Torchia M et al. N-terminally tagged prion protein supports prion propagation in transgenic mice. Protein Sci 1997; 6: 825-33
65. 65 Tobler I, Gaus SE, Deboer T et al. Altered circadian activity rhythms and sleep in mice devoid of prion protein. Nature 1996; 380: 639-42
66. 66 Tremblay P, Meiner Z, Galou M et al. Doxycycline control of prion protein transgene expression modulates prion disease in mice. Proc Natl Acad Sc USA 1998; 95: 12580-5
67. 67 Westaway D, Goodman PA, Mirenda CA, McKinley MP, Carlson GA, Prusiner SB. Distinct prion proteins in short and long scrapie incubation period mice. Cell 1987; 51: 651-62
68. 68 Westaway D, Mirenda CA, Foster D et al. Paradoxical shortening of scrapie incubation times by expression of prion protein transgenes derived from long incubation period mice. Neuron 1991; 7: 59-68
69. 69 Westaway D, DeArmond SJ, Cayetano-Canlas J et al. Degeneration of skeletal muscle, peripheral nerves and the central nervous system in transgenic mice overexpressing wild-type prion proteins. Cell 1994; 76: 117-29
70. 70 Westaway D, Telling G, Priola S. Prions. Proc Natl Acad Sci USA 1998; 95: 11030-1
71. 71 Whittington MA, Sidle KCL, Gowland I et al. Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion protein. Nat Genet 1995; 9: 197-201
72. 72 Will RG, Ironside JW, Zeidler M et al. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 1996; 347: 921-5