Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

Proceedings of the National Academy of Sciences of the United States of America

Volumn 96, Issue 10, 1999, Pages 5598-5603

  D'Souza, Ian ^a,b   Poorkaj, Parvoneh ^a,b   Hong, Ming ^d   Nochlin, David ^b   Lee, Virginia M Y ^d   Bird, Thomas D ^a,b   Schellenberg, Gerard D ^a,b,c,e  

^a VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e GRECC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; RNA; TAU PROTEIN;

ADULT; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; CELL INCLUSION; CHROMOSOME 17; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; INTRON; MALE; MISSENSE MUTATION; PARKINSONISM; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SENILE PLAQUE; SILENCER GENE; SILENT GENE;

AGED; ALTERNATIVE SPLICING; BRAIN; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; FEMALE; HISTOCYTOCHEMISTRY; HUMANS; MALE; MICROTUBULES; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PEDIGREE; PROTEIN BINDING; REGULATORY SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; TAU PROTEINS;

EID: 0033545946     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.96.10.5598     Document Type: Article

References (39)

1. Foster, N. L., Wilhelmsen, K., Sima, A. A. F., Jones, M. Z., D'Amato, C. J. & Gilman, S. (1997) Ann. Neurol. 41, 706-715.
2. Lynch, T., Sano, M., Marder, K. S., Bell, K. L., Foster, N. L., Defendini, R. F., Sima, A. A. F., Keohane, C., Nygaard, T. G., Fahn, S., et al. (1994) Neurology 44, 1878-1884.
3. Wilhelmsen, K. C., Lynch, T., Pavlou, E., Higgens, M. & Nygaard, T. G. (1994) Am. J. Hum. Genet. 55, 1159-1165.
4. Wijker, M., Wszolek, Z. K., Wolters, E. C. H., Rooimans, M. A., Pals, G., Pfeiffer, R. F., Lynch, T., Rodnitzky, R. L., Wilhelmsen, K. C. & Arwert, F. (1996) Hum. Mol. Genet. 5, 151-154.
5. Spillantini, M. G., Goedert, M., Crowther, R. A., Murrell, J. R., Farlow, M. R. & Ghetti, B. (1997) Proc. Natl. Acad. Sci. USA 94, 4113-4118.
6. Bird, T. D., Wijsman, E. M., Nochlin, D., Leehey, M., Sumi, S. M., Payami, H., Poorkaj, P., Nemens, E., Raskind, M. & Schellenberg, G. D. (1997) Neurology 48, 949-954.
7. Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., Vanduijn, C. M., Oostra, B. A. & Vanswieten, J. C. (1997) Ann. Neurol. 41, 150-159.
8. Yamaoka, L. H., Welshbohmer, K. A., Hulette, C. M., Gaskell, P. C., Murray, M., Rimmler, J. L., Helms, B. R., Guerra, M., Roses, A. D., Schmechel, D. E. et al. (1996) Am. J. Hum. Genet. 59, 1306-1312.
9. Sumi, S. M., Bird, T. D., Nochlin, D. & Raskind, M. A. (1992) Neurology 42, 120-127.
10. Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) Nature (London) 393, 702-705.
11. Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A. & Ghetti, B. (1998) Proc. Natl. Acad. Sci. USA 95, 7737-7741.
12. Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M. & Schellenberg, G. D. (1998) Ann Neurol. 43, 815-825.
13. Spillantini, M. G., Crowther, R. A. & Goedert, M. (1996) Acta Neuropathol. 92, 42-48.
14. Reed, L. A., Grabowski, T. J., Schmidt, M. L., Morris, J. C., Goate, A., Solodkin, A., Vanhoesen, G. W., Schelper, R. L., Talbot, C. J., Wragg, M. A., et al. (1997) Ann. Neurol. 42, 564-572.
15. Hong, M., Zhukareva, V., Vogelsberg-Ragaglia, V., Wszolek, Z., Reed, L., Miller, B. I., Geschwind, D. H., Bird, T. D., Mckeel, D., Goate, A., et al. (1998) Science 282, 1914-1917.
16. Hasegawa, M., Smith, M. J. & Goedert, M. (1998) FEBS Lett. 437, 207-210.
17. Clark, L. N., Poorkaj, P., Wszolek, Z., Geschwind, D. H., Nasreddine, Z. S., Miller, B., Li, D., Payami, H., Awert, F., Markopoulou, K., et al. (1998) Proc. Natl. Acad. Sci. USA 95, 13103-13107.
18. Hutton, M., Busfield, F., Wragg, M., Crook, R., Pereztur, J., Clark, R. F., Prihar, G., Talbot, C., Phillips, H., Wright, K., et al. (1996) NeuroReport 7, 801-805.
19. Levy-Lahad, E., Poorkaj, P., Wang, K., Fu, Y. H., Oshima, J., Mulligan, J. & Schellenberg, G. D. (1996) Genomics 34, 198-204.
20. Kamino, K., Orr, H. T., Payami, H., Wijsamn, E. M., Alonso, M. E., Pulst, S. M., Anderson, L., O'dahl, S., Nemens, E., White, J. A., et al. (1992) Am. J. Hum. Genet. 51, 998-1014.
21. Church, D. M., Stotler, C. J., Rutter, J. L., Murrell, J. R., Trofatter, J. A. & Buckler, A. J. (1994) Nat. Genet. 6, 98-105.
22. Bramblett, G. T., Goedert, M., Jakes, R., Merrick, S. E., Trojanowski, J. Q. & Lee, V. M.-Y. (1993) Neuron 10, 1089-1099.
23. Gustke, N., Trinczek, B., Biernat, J., Mandelkow, E. M. & Mandelkow, E. (1994) Biochemistry 33, 9511-9522.
24. Rizzu, P., Van Swieten, J. C., Joosse, M., Hasegawa, M., Stevens, M., Tibben, A., Niermeijer, M. F., Hillebrand, M., Ravid, R., Oostra, B. A., et al. (1999) Am. J. Hum. Genet. 64, 414-421.
25. Iijima, M., Tabira, T., Poorkaj, P., Schellenberg, G. D., Trojanowski, J. Q., Lee, V. M.-Y., Schmidt, M. L., Takahashi, K., Nabika, T., Matsumoto, T., et al. (1999) NeuroReport, in press.
26. Khachaturian, Z. S. (1985) Arch. Neurol. 42, 1097-1105.
27. Mirra, S. S., Heyman, A., McKeel, A., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., van Belle, G. & Berg, L. (1991) Neurology 41, 479-486.
28. Ball, M., Braak, H., Coleman, P., Dickson, D., Duyckaerts, C., Gambetti, P., Hansen, L., Hyraan, B., Jellinger, K., Markesbery, W., et al. (1997) Neurobiol. Aging 18, S1-S2.
29. Tarn, W.-Y. & Steitz, J. A. (1994) Genes Dev. 8, 2704-2717.
30. Zhuang, Y. & Weiner, A. M. (1986) Cell 46, 827-835.
31. Senapathy, P., Shapiro, M. & Harris, N. L. (1990) Methods Enzymol. 183, 252-278.
32. Xu, R., Teng, J. & Cooper, T. A. (1993) Mol. Cell. Biol. 13, 3660-3674.
33. Watakabe, A., Tanaka, K. & Shimura, Y. (1993) Genes Dev. 7, 407-418.
34. Lavigueur, A., La Branche, H., Kornblihtt, A. R. & Chabot, B. (1993) Genes Dev. 7, 2405-2417.
35. Cooper, T. A. & Mattox, W. (1997) Am. J. Hum. Genet. 61, 259-266.
36. Si, Z.-H., Rauch, D. & Stoltzus, M. (1998) Mol. Cell. Biol. 18, 5404-5413.
37. Bueescherrer, V., Hof, P. R., Buee, L., Leveugle, B., Vermersch, P., Perl, D. P., Olanow, C. W. & Delacourte, A. (1996) Acta Neuropathol. 91, 351-359.
38. Braak, H. & Braak, E. (1991) Acta Neuropathol. 82, 239-259.
39. Zuker, M. (1989) Science 244, 48-52.