Tau gene mutations: Dissecting the pathogenesis of FTDP-17

Trends in Molecular Medicine

Volumn 8, Issue 12, 2002, Pages 555-562

  Ingram, Esther M ^a   Spillantini, Maria G ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MICROTUBULE PROTEIN; TAU PROTEIN;

ALZHEIMER DISEASE; CHROMOSOME 17; DEGENERATIVE DISEASE; EXON; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENOTYPE; HUMAN; MISSENSE MUTATION; NEUROPATHOLOGY; PARKINSONISM; PATHOGENESIS; PHENOTYPE; PROTEIN PROTEIN INTERACTION; REVIEW; RNA SPLICING; SYMPTOMATOLOGY;

EID: 0036892302     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1471-4914(02)02440-1     Document Type: Review

References (95)

1. Hirokawa, N. (1994) Microtubule organization and dynamics dependent on microtubule-associated proteins. Curr. Opin. Cell Biol. 6, 74-81
2. Ebneth, A. et al. (1998) Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: Implications for Alzheimer's disease. J. Cell Biol. 143, 777-794
3. Neve, R.L. et al. (1986) Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Brain Res. 387, 271-280
4. Goedert, M. et al. (1988) Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: Identification as the microtubule-associated protein tau. Proc. Natl. Acad. Sci. U. S. A. 85, 4051-4055
5. Goedert, M. et al. (1989) Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J. 8, 393-399
6. Goedert, M. et al. (1989) Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3, 519-526
7. Andreadis, A. et al. (1992) Structure and novel exons of the human tau gene. Biochemistry 31, 10626-10633
8. Gustke, N. et al. (1994) Domains of tau protein and interactions with microtubules. Biochemistry 33, 9511-9522
9. Trinczek, B. et al. (1995) Domains of tau protein, differential phosphorylation, and dynamic instability of microtubules. Mol. Biol. Cell 6, 1887-1902
10. Goedert, M. and Jakes, R. (1990) Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J. 9, 4225-4230
11. Kanemaru, K. et al. (1992) Fetal-type phosphorylation of the tau in paired helical filaments. J. Neurochem. 58, 1667-1675
12. Spillantini, M.G. and Goedert, M. (1998) Tau protein pathology in neurodegenerative diseases. Trends Neurosci. 21, 428-433
13. Spillantini, M.G. et al. (1998) Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am. J. Pathol. 153, 1359-1363
14. Spillantini, M.G. et al. (1997) Familial multiple system tauopathy with presenile dementia: A disease with abundant neuronal and glial tau filaments. Proc. Natl. Acad. Sci. U. S. A. 94, 4113-4118
15. Poorkaj, P. et al. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol. 43, 815-825
16. Hutton, M. et al. (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702-705
17. Spillantini, M.G. et al. (1998) Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. U. S. A. 95, 7737-7741
18. Hayashi, S. et al. (2002) Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann. Neurol. 51, 525-530
19. Poorkaj, P. et al. (2002) An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann. Neurol. 52, 511-516
20. Hasegawa, M. et al. (1998) Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett. 437, 207-210
21. Hong, M. et al. (1998) Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282, 1914-1917
22. Murrell, J.R. et al. (1999) Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. J. Neuropathol. Exp. Neurol. 58, 1207-1226
23. Rizzu, P. et al. (1999) High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am. J. Hum. Genet. 64, 414-421
24. Rizzini, C. et al. (2000) Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J. Neuropathol. Exp. Neurol. 59, 990-1001
25. Nacharaju, P. et al. (1999) Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. FEBS Lett. 447, 195-199
26. Goedert, M. et al. (1999) Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments. FEBS Lett. 450, 306-311
27. Neumann, M. et al. (2001) Pick's disease associated with the novel Tau gene mutation K369I. Ann. Neurol. 50, 503-513
28. Dayanandan, R. et al. (1999) Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation. FEBS Lett. 446, 228-232
29. Vogelsberg-Ragaglia, V. et al. (2000) Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells. Mol. Biol. Cell 11, 4093-4104
30. DeTure, M. et al. (2000) Missense tau mutations identified in FTDP-17 have a small effect on tau-microtubule interactions. Brain Res. 853, 5-14
31. Sahara, N. et al. (2000) Missense-point mutations of tau to segregate with FTDP-17 exhibit site-specific effects on microtubule structure in COS cells: A novel action of R406W mutation. J. Neurosci. Res. 60, 380-387
32. Carmel, G. et al. (1996) The structural basis of monoclonal antibody Alz50's selectivity for Alzheimer's disease pathology. J. Biol. Chem. 271, 32789-32795
33. Yasuda, M. et al. (2000) A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto). Ann. Neurol. 47, 422-429
34. Miyamoto, K. et al. (2001) Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann. Neurol. 50, 117-120
35. Varani, L. et al. (1999) Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci. U. S. A. 96, 8229-8234
36. Grover, A. et al. (1999) 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J. Biol. Chem. 274, 15134-15143
37. D'Souza, I. et al. (1999) Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl. Acad. Sci. U. S. A. 96, 5598-5603
38. D'Souza, I. and Schellenberg, G.D. (2000) Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion. J. Biol. Chem. 275, 17700-17709
39. D'Souza, I. and Schellenberg, G.D. (2002) Tau exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5′ and 3′ splice sites. J. Biol. Chem. 277, 26587-26599
40. Goedert, M. et al. (1999) Tau gene mutation in familial progressive subcortical gliosis. Nat. Med. 5, 454-457
41. Hulette, C.M. et al. (1999) Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke family 1684. J. Neuropathol. Exp. Neurol. 58, 859-866
42. Clark, L.N. et al. (1998) Pathogenic implications of mutations in the tau gene in pallido-pontonigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc. Natl. Acad. Sci. U.S.A. 95, 13103-13107
43. Hasegawa, M. et al. (1999) FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett. 443, 93-96
44. Spillantini, M.G. et al. (2000) A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann. Neurol. 48, 939-943
45. Grover, A. et al. (2002) Effects on splicing and protein function of three mutations in codon 296 of tau in vitro. Neurosci. Lett. 323, 33-36
46. Iijima, M. et al. (1999) A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10, 497-501
47. Stanford, P.M. et al. (2000) Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations. Brain 123, 880-893
48. Yoshida, H. et al. (2002) Functional effects of tau gene mutations deltaN296 and N296H. J. Neurochem. 80, 548-551
49. von Bergen, M. et al. (2001) Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local β-structure. J. Biol. Chem. 276, 48165-48174
50. Iseki, E. et al. (2001) Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. Acta Neuropathol. 102, 285-292
51. Lippa, C.F. et al. (2000) Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Ann. Neurol. 48, 850-858
52. Spillantini, M.G. et al. (1996) Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles. Acta Neuropathol. 92, 42-48
53. Reed, L.A. et al. (1997) Autosomal dominant dementia with widespread neurofibrillary tangles. Ann. Neurol. 42, 564-572
54. van Swieten, J.C. et al. (1999) Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann. Neurol. 46, 617-626
55. Bigio, E. et al. (2002) L266V tau mutation produces a tauopathy clinically and pathologically analogous to sporadic Pick Disease. J. Neuropathol. Exp. Neurol. 61, A168
56. Rosso, S.M. et al. (2002) A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann. Neurol. 51, 373-376
57. Mirra, S.S. et al. (1999) Tau pathology in a family with dementia and a P301L mutation in tau. J. Neuropathol. Exp. Neurol. 58, 335-345
58. Bugiani, O. et al. (1999) Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J. Neuropathol. Exp. Neurol. 58, 667-677
59. Pickering-Brown, S.M. et al. (2002) Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain 125, 732-751
60. Reed, L.A. et al. (1998) The neuropathlogy of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration"). J. Neuropathol. Exp. Neurol. 57, 588-601
61. Delisle, M.B. et al. (1999) A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol. 98, 62-77
62. David, D.C. et al. (2002) Proteasomal degradation of tau protein. J. Neurochem. 83, 176-185
63. Lantos, P.L. et al. (2002) Neuropathologic variation in frontotemporal dementia due to the intronic tau 10 + 16 mutation. Neurology 58, 1169-1175
64. Janssen, J.C. et al. (2002) Clinical features of frontotemporal dementia due to the intronic tau 10 + 16 mutation. Neurology 58, 1161-1168
65. Bird, T.D. et al. (1999) A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 122, 741-756
66. Nasreddine, Z.S. et al. (1999) From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann. Neurol. 45, 704-715
67. Kobayashi, T. et al. (2002) Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. J. Neurol. 249, 669-675
68. Sperfeld, A.D. et al. (1999) FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann. Neurol. 46, 708-715
69. Yasuda, M. et al. (2000) A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. Neurology 55, 1224-1227
70. Yasuda, M. et al. (1999) A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. Neurology 53, 864-868
71. Tsuboi, Y. et al. (2002) Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: A comparison of the pallidopontonigral degeneration kindred and a French family. Arch. Neurol. 59, 943-950
72. Heutink, P. et al. (1997) Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three Dutch families. Ann. Neurol. 41, 150-159
73. Sumi, S.M. et al. (1992) Familial presenile dementia with psychosis associated with cortical nearofibrillary tangles and degeneration of the amygdala. Neurology 42, 120-127
74. Conrad, C. (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann. Neurol. 41, 277-281
75. Bennett, P. et al. (1998) Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European study group on atypical parkinsonism consortium. Neurology 51, 982-985
76. Higgins, J.J. et al. (1998) Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the α-synuclein gene. Neurology 50, 270-273
77. Morris, H.R. et al. (1999) The tau gene AO polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. J. Neurol. Neurosurg. Psychiatry 66, 665-667
78. Conrad, C. et al. (1998) Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: Implication for progressive supranuclear palsy. Neurosci. Lett. 250, 135-137
79. Baker, M. et al. (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 8, 711-715
80. Ezquerra, M. et al. (1999) Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans. Neurosci. Lett. 275, 183-186
81. Pastor, P. et al. (2002) Further extension of the H1 haplotype associated with progressive supranuclear palsy. Mov. Disord. 17, 550-556
82. Litvan, I. et al. (2001) Tau genotype: No effect on onset, symptom severity, or survival in progressive supranuclear palsy. Neurology 57, 138-140
83. Liu, W.K. et al. (2001) Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy. Ann. Neurol. 50, 494-502
84. Di Maria, E. et al. (2000) Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann. Neurol. 47, 374-377
85. Houlden, H. et al. (2001) Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 56, 1702-1706
86. Ikegami, S. et al. (2000) Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice. Neurosci. Lett. 279, 129-132
87. Utton, M.A. et al. (2002) The slow axonal transport of the microtubule-associated protein tau and the transport rates of different isoforms and mutants in cultured neurons. J. Neurosci. 22, 6394-6400
88. Goode, B.L. and Feinstein, S.C. (1994) Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau. J. Cell Biol. 124, 769-782
89. Matsumura, N. et al. (1999) Stable expression in Chinese hamster ovary cells of mutated tau genes causing frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Am. J. Pathol. 154, 1649-1656
90. Goedert, M. et al. (1996) Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans. Nature 383, 550-553
91. Friedhoff, P. et al. (1998) A nucleated assembly mechanism of Alzheimer paired helical filaments. Proc. Natl. Acad. Sci. U. S. A. 95, 15712-15717
92. Hutton, M. et al. (2001) Analysis of tauopathies with transgenic mice. Trends Mol. Med. 7, 467-470
93. Tanemura, K. et al. (2002) Neurodegeneration with tau accumulation in a transgenic mouse expressing V337M human tau. J. Neurosci. 22, 133-141
94. Tatebayashi, Y. et al. (2002) Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau. Proc. Natl. Acad. Sci. U. S. A. 99, 13896-13901
95. Allen, B. et al. Abundant tau filaments and nonapoptotic neurodegeneration in transgenic mice expressing human P301S tau protein. J. Neurosci. (in press)