Intrinsic signaling function of APP as a novel target of three V642 mutations linked to familial Alzheimer's disease

EMBO Journal

Volumn 15, Issue 15, 1996, Pages 3769-3777

  Okamoto, Takashi ^a   Takeda, Shizu ^a,d   Giambarella, Ugo ^a   Murayama, Yoshitake ^b   Matsui, Takashi ^a   Katada, Toshiaki ^b   Matsuura, Yoshiharu ^c   Nishimoto, Ikuo ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF TOKYO   (Japan)

^c NATIONAL INSTITUTE OF INFECTIOUS DISEASES   (Japan)

^d ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Amyloid precursor protein; Familial alzheimer V642 mutations; G protein couplin; Mutationally activated molecule

Indexed keywords

AMYLOID PRECURSOR PROTEIN; CELL SURFACE RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE; HISTIDINE; LYSINE; MAGNESIUM ION; MEMBRANE PROTEIN; PERTUSSIS TOXIN; RECOMBINANT PROTEIN; SIGNAL PEPTIDE;

ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DOMINANT INHERITANCE; GENE MUTATION; IMMUNOBLOTTING; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0029739316     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1002/j.1460-2075.1996.tb00750.x     Document Type: Article

References (57)

1. Allinquant, B., Hantraye, P., Mailleux, P., Moya, K., Bouillot, C. and Prochiantz, A. (1995) Downregulation of amyloid precursor protein inhibits neurite outgrowth in vitro. J. Cell. Biol., 128, 919-927.
2. 2-adrenergic receptor. Nature, 374, 272-276.
3. Breen, K.C., Bruce, M. and Anderton, B.H. (1991) Beta amyloid precursor protein mediates neuronal cell-cell and cell-surface adhesion. J. Neurosci. Res., 28, 90-100.
4. Chartier-Harlin, M.-C. et al. (1991) Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature, 353, 844-846.
5. 2+ channels. Cell, 67, 21-33.
6. Ferreira, A., Caceres, A. and Kosik, K.S. (1993) Intraneuronal compartments of the amyloid precursor protein. J. Neurosci., 13, 3112-3123.
7. Fiore, F., Zambrano, N., Minopoli, G., Donini, V., Duilio, A. and Russo, T. (1995) The regions of the Fe65 protein homologous to the phosphotyrosine interaction/phosphotyrosine binding domain of Shc bind the intracellular domain of the Alzheimer's amyloid precursor protein. J. Biol. Chem., 270, 30853-30856.
8. Frank, D.A. and Greenberg, M.E. (1994) CREB: A mediator of long-term memory from molluscs to mammals. Cell, 79, 5-8.
9. Games, D. et al. (1995) Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein. Nature, 373, 523-527.
10. Goate, A. et al. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature, 349, 704-706.
11. Goh, J.W. and Pennefather, P.S. (1989) A pertussis toxin-sensitive G protein in hippocampal long-term potentiation. Science, 244, 980-983.
12. Gong, X., Dubois, D.H., Miller, D.J. and Shur, B.D. (1995) Activation of a G protein complex by aggregation of β-1,4-galactosyltransferase on the surface of sperm. Science, 269, 1718-1721.
13. Ikezu, T., Okamoto, T., Giambarella, U., Yokota, T. and Nishimoto, I. (1995) In vivo coupling of IGF-II/M6P receptor to heteromeric G proteins: distinct roles of cytoplasmic domains and signal sequestration by the receptor. J. Biol. Chem., 270, 29224-29228.
14. Ikezu, T., Okamoto, T., Komatsuzaki, K., Matsui, T., Martyn, J.A.J. and Nishimoto, I. (1996) Negative transactivation of cAMP response element by familial Alzheimer's mutants of APP. EMBO J., 15, 2468-2475.
15. Ito, I., Okada, D. and Sugiyama, H. (1988) Pertussis toxin suppresses long-term potentiation of hippocampal mossy fiber synapses. Neurosci. Lett., 90, 181-185.
16. Jarriault, S., Brou, C., Logeat, F., Schroeter, E.H., Kopan, R. and Israel, A. (1995) Signalling downstream of activated mammalian Notch. Nature, 377, 355-358.
17. Jin, L.-W., Ninomiya, H., Roch, J.-M., Schubert, D., Masliah, E., Otero, D.A. and Saitoh, T. (1994) Peptides containing the RERMS sequence of amyloid β/A4 protein precursor bind cell surface and promote neurite extension. J. Neurosci., 14, 5461-5470.
18. Kang, J., Lemaire, H.-G., Unterback, A., Salbaum, J.M., Masters, C.L., Grezeschik, K.H., Multhaup, G., Beyreuther, K. and Müller-Hill, B. (1987) The precursor of Alzheimer disease amyloid A4 protein resembles a cell-surface receptor. Nature, 325, 733-736.
19. Karlinsky, H. et al. (1992) Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β-amyloid precursor protein gene. Neurology, 42, 1445-1453.
20. Katada, T., Oinuma, M. and Ui, M. (1986) Two guanine nucleotide-binding proteins in rat brain serving as the specific substrate of islet-activating protein, pertussis toxin. Interaction of the α-subunits with βγ-subunits in development of their biological activities. J. Biol. Chem., 261, 8182-8191.
21. 1B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation. J. Biol. Chem., 267, 1430-1433.
22. Knops, J., Johnson-Wood, K., Schenk, D.B., Sinha, S., Lieberburg, I. and McConlogue, L. (1991) Isolation of baculovirus-derived secreted and full-length β-amyloid precursor protein. J. Biol. Chem., 266, 7285-7290.
23. o or the expression of their active Gα-subunits. EMBO J., 14, 3635-3644.
24. LeBlanc, A.C., Kovacs, D.M., Chen, H.Y., Villaré, F., Tykocinski, M., Autilio-Gambetti, L. and Gambetti, P. (1992) Role of amyloid precursor protein (APP): study with antisense transfection of human neuroblastoma cells. J. Neurosci. Res., 31, 635-645.
25. Levitan, D. and Greenwald, I. (1995) Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature, 377, 351-354.
26. o in multiple aspects of behavior in C.elegans. Science, 267, 1652-1655.
27. Milward, E.A., Papadopoulos, R., Fuller, S.J., Moir, R.D., Small, D., Beyreuther, K. and Masters, C.L. (1992) The amyloid protein precursor of Alzheimer's disease is a mediator of the effects of nerve growth factor on neurite outgrowth. Neuron, 9, 129-137.
28. Murayama, Y. et al. (1990) Distinctive regulation of the functional linkage between the human cation-independent mannose 6-phosphate receptor and GTP-binding proteins by insulin-like growth factor II and mannose 6-phosphate. J. Biol. Chem., 265, 17456-17462.
29. Murrell, J., Farlow, M., Ghetti, B. and Benson, M.D. (1991) A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science, 254, 97-99.
30. Naruse, S. et al. (1991) Mis-sense mutation Val→Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. Lancet, 337, 978-979.
31. Neve, R.L., Finch, E.A. and Dawes, L.R. (1988) Expression of the Alzheimer amyloid precursor gene transcripts in the human brain. Neuron, 1, 669-677.
32. o. Nature, 362, 75-79.
33. 2-adrenergic receptors based upon characteristics in primary structure. J. Biol. Chem., 267, 8342-8346.
34. Okamoto, T., Katada, T., Murayama, Y., Ui, M., Ogata, E. and Nishimoto, I. (1990) A simple structure encodes G protein-activating function of the IGF-II/mannose 6-phosphate receptor. Cell, 62, 709-717.
35. i2α. J. Biol. Chem., 269, 13756-13759.
36. Okamoto, T., Takeda, S., Murayama, Y., Ogata, E. and Nishimoto, I. (1995) Ligand-dependent G protein coupling function of amyloid transmembrane precursor. J. Biol Chem., 270, 4205-4208.
37. Parma, J., Duprez, L., Van Sande, J., Cochauz, P., Gervy, C., Mockel, J., Dumount, J. and Vassart, G. (1993) Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature, 365, 649-651.
38. Rogaev, E.I. et al. (1995) Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome I related to the Alzheimer's disease type 3 gene. Nature, 376, 775-778.
39. Samama, P., Cotecchia, S., Costa, T. and Lefkowitz, R.J. (1993) A mutation-induced activated state of the β2-adrenergic receptor. Extending the ternary complex model. J. Biol. Chem., 268, 4625-4636.
40. Schubert, W., Prior, R., Weidemann, A., Dircksen, H., Multhaup, G., Masters, C.L. and Beyreuther, K. (1991) Localization of Alzheimer βA4 amyloid precursor protein at central and peripheral synaptic sites. Brain Res., 563, 184-194.
41. Schuch, U., Lohse, M.J. and Schachner, M. (1989) Neural cell adhesion molecules influence second messenger systems. Neuron, 3, 13-20.
42. o) protein. J. Immunol., 150, 1524-1534.
43. o in Caenorhabditis elegans. Science, 267, 1648-1651.
44. Shenker, A., Laue, L., Kosugi, S., Merendino, J.J., Jr, Minegishi, T. and Cutler, G.B., Jr (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature, 365, 652-654.
45. Sherrington, R. et al. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature, 375, 754-760.
46. Small, D.H., Nurcombe, V., Reed, G., Clarris, H., Moir, R., Beyreuther, K. and Masters, C.L. (1994) A heparin-binding domain in the amyloid protein precursor of Alzheimer's disease is involved in the regulation of neurite outgrowth. J. Neurosci., 14, 2117-2127.
47. neu stimulates tyrosine phosphorylation in vivo. Mol. Cell. Biol., 8, 3969-3973.
48. o is a major growth cone protein subject to regulation by GAP-43. Nature, 344, 836-841.
49. o: GAP-43 stimulates isolated α subunits by a novel mechanism. J. Biol. Chem., 266, 22465-22471.
50. Strittmatter, S.M., Cannon, S.C., Ross, E.M., Higashijima, T. and Fishman, M.C. (1993) GAP-43 augments G protein-coupled receptor transduction in Xenopus laevis oocytes. Proc. Natl Acad. Sci. USA, 90, 5327-5331.
51. o promote an increased number of neurites per cell. J. Neurosci., 14, 2327-2338.
52. 717) mutants. Science, 264, 1336-1340.
53. Weidemann, A., König, G., Bunke, D., Fischer, P., Salbaum, J.M., Masters, C.L. and Beyreuther, K. (1989) Identification, biogenesis and localization of precursors of Alzheimer's disease A4 amyloid protein. Cell, 57, 115-126.
54. Yamatsuji, T., Okamoto, T., Takeda, S., Murayama, Y., Tanaka, N. and Nishimoto, I. (1996) Expression of V642 APP mutant causes cellular apoptosis as Alzheimer trait-linked phenotype. EMBO J., 15, 498-509.
55. Yoshikawa, K., Aizawa, T. and Hayashi, Y. (1992) Degeneration in vitro of post-mitotic neurons overexpressing the Alzheimer amyloid protein precursor. Nature, 359, 64-67.
56. 717Val→Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochem. Biophys. Res. Commun., 178, 1141-1146.
57. Zheng, H. et al. (1995) β-Amyloid precursor protein-deficient mice show reactive gliosis and decreased locomotor activity. Cell, 81, 525-531.