Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans

Neuroscience Letters

Volumn 275, Issue 3, 1999, Pages 183-186

  Ezquerra, Mario ^a   Pastor, Pau ^b   Valldeoriola, Francesc ^b   Luis Molinuevo, Jose ^b   Blesa, Rafael ^b   Tolosa, Eduard ^b   Oliva, Rafael ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

Polymorphism; Progressive supranuclear palsy; Promoter; Tau

Indexed keywords

TAU PROTEIN;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN EXPERIMENT; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NORMAL HUMAN; ONCOGENE C MYB; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CONSENSUS SEQUENCE; GENE FREQUENCY; GENOTYPE; HUMANS; INTRONS; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); PROTO-ONCOGENE PROTEINS C-MYB; RISK FACTORS; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS; TRANSCRIPTION, GENETIC;

EID: 0032747502     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(99)00738-7     Document Type: Article

References (24)

1. Andreadis A., Bridget K., Wagner J.A., Kenneth S.K. A τ promoter region without neuronal specificity. J. Neurochem. 66:1996;2257-2263.
2. Baker M., Litvan I., Houlden H., Adamson J., Dickson D., Perez-Tur J., Hardy J., Lynch T., Bigio E., Hutton M. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 51:1999;982-985.
3. Bennet P., Bonifati V., Bonucelli U., Colosimo C., De Mari M., Fabbrini G., Marconi R., Meco G., Nicholl D.J., Stocchi F., Vanacore N., Vieregge P., Williams A.C. Direct genetic evidence for involvement of tau in progressive supranuclear palsy. Ann. Neurol. 51:1998;982-985.
4. Bower J.H., Maraganore D.M., McDonell S.K., Duboisin R.C. Incidence of progressive supranuclear palsy and multiple system atrophy in Olmstead County, Minnesota, 1976 to 1990. Neurology. 49:1997;1284-1288.
5. Blesa R., Adroer R., Santacruz P., Ascaso C., Tolosa E., Oliva R. High apolipoprotein E ε4 allele frequency in age related memory decline. Ann. Neurol. 39:1996;548-551.
6. Clark L., Poorkaj P., Wszolek Z., Geschwind D.H., Nasreddine Z.S., Miller B., Li D., Payami H., Awert F., Marcopoulou K., Andreadis A., D'Souza I., Lee V., Reed L., Trojanowsky J.Q., Zhukareva V., Bird T., Schellenberg G., Wilhelmsen K.C. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degenerative disorders linked to chromosome 17. Proc. Natl. Acad. Sci. USA. 95:1998;13103-13108.
7. Conrad C., Andreadis A., Trojanowsky J.Q., Dickson D.W., Kang D., Chen X., Wiederholt W., Hansen L., Masliak E., Thal L.J., Katzman R., Xia Y., Saitoh T. Genetic evidence for the involvement of τ in progressive supranuclear palsy. Ann. Neurol. 41:1997;277-281.
8. Ebneth A., Godemann K., Stamer S., Illenberger S., Trinczek B., Mandelkow E.M., Mandelkow E. Overexpression of tau proteins inhibits kinesin-dependent trafficking of vesicles, mitochondria and endoplasmic reticulum: implications for Alzheimer's disease. J. Cell. Biol. 143:1998;777-794.
9. Esclaire F., Terro C., Gardin C., Hugon J. Neuronal apoptosis is associated with a decrease in tau mRNA expression. NeuroReport. 9:1998;1173-1177.
10. Flament S., Delacourte A., Verny M., Hauw J.J., Javoy-Agid F. Abnormal tau proteins in progressive supranuclear palsy. Similarities and differences with the neurofibrillary degeneration of the Alzheimer type. Acta Neuropathol. (Berl.). 81:1991;591-596.
11. Garth F., Yao J., Gloria L. Human tau becomes phosphorylated and forms filamentous deposits when overexpressed in lamprey central neurons in situ. Proc. Natl. Acad. Sci. USA. 94:1997;4733-4739.
12. Goedert M., Spillantini M.G., Jakes R. Multiple isoforms of human microtubule-associated protein tau: sequences and localisation in neurofibrillary tangles of Alzheimer's disease. Neuron. 3:1989;519-526.
13. Harada A., Oguchi K., Okabe S., Kuno J., Terada S., Oshima T., Sato-Yoshitake R., Takei Y., Noda T., Hirokawa N. Altered microtubule organization in small-calibre axons of mice lacking tau protein. Nature. 369:1994;488-491.
14. Hardy J., Gwinn-Hardy K. Genetic classification of primary neurodegenerative disease. Science. 282:1998;1075-1078.
15. Heutink P., Stevens M., Rizzu P., Bakker E., Kros J.M., Tibben A., Niermeijer M.F., van-Duijn C.M., Oostra B.A. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinic-pathological study of three Dutch families. Ann. Neurol. 41:1997;150-159.
16. Higgins J.J., Litvan I., Pho L.T., Li W., Nee L.E. Progressive supranuclear palsy is in linkage disequilibrium with the tau and not with the alpha-synuclein gene. Neurology. 50:1998;270-273.
17. Howe M., Watson R.J. Nucleotide preferences in a sequence-specific recognition of DNA by c-myb protein. Nucl. Acid Res. 19:1991;3913-3919.
18. Hutton M., Lendon C.L., Rizzu P., Baker M., Froelich S., Houlden H., Pickering-Brown S., Chakraverty S., Isachs A., Grover A., Hackett J., Adamson J., Lincoln S., Dickson D., Davies P., Petersen R.C., Stevens M., de Graaff E., Wauters E., van Baren J., Hillebrand M., Joosse M., Kwon J.M., Nowotny P., Che L.K., Norton J., Morris J.C., Reed L.A., Trojanowski J., Basun H., Lannfelt R., Neystat M., Fahn S., Dark F., Tannenberg T., Dodd P.R., Hayward N., Kwok J.B.J., Schofield P.R., Andreadis A., Snowden J., Craufurd D., Neary D., Owen F., Oostra B.A., Hardy J., Goate A., van Swieten J., Mann D., Lynch T., Heutink P. Association of a missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 393:1998;702-705.
19. McKhann G., Drackman D., Folstein M., Katzman R., Price D., Standlan E. Clinical Diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group. Neurology. 34:1984;939-944.
20. Nakagoshi H., Nagase T., Kanei-Ishii C., Ueno Y., Ishii S. Binding of the c-myb proto-oncogene product to the simian virus 40 enhancer stimulates transcription. J. Biol. Chem. 265:1990;3479-3483.
21. Oliva R., Tolosa E., Ezquerra M., Molinuevo J.L., Valldeoriola F., Burguera J., Calopa M., Villa M., Ballesta F. Significant changes in the τ A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch. Neurol. 55:1998;1122-1124.
22. Spillantini M., Goedert M. Tau protein pathology in neurodegenerative diseases. Trends Neurol. Sci. 21:1998;428-433.
23. Lindwall G., Cole R.D. Phosphorylation affects the ability of tau protein to promote microtubule assembly. J. Biol. Chem. 259:1999;5301-5305.
24. Tolosa E., Valldeoriola F., Marti M.J. Clinical diagnosis and diagnostic criteria of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome). J. Neural. Transm. 42:1994;15-31.