High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Human Molecular Genetics

Volumn 14, Issue 21, 2005, Pages 3281-3292

  Rademakers, Rosa ^a   Melquist, Stacey ^d   Cruts, Marc ^a   Theuns, Jessie ^a   Del Favero, Jurgen ^a   Poorkaj, Parvoneh ^f,g   Baker, Matt ^d   Sleegers, Kristel ^a   Crook, Richard ^d   De Pooter, Tim ^a   Kacem, Samira Bel ^a   Adamson, Jennifer ^d   Van den Bossche, Dirk ^a   Van den Broeck, Marleen ^a   Gass, Jennifer ^d   Corsmit, Ellen ^a   De Rijk, Peter ^a   Thomas, Natalie ^e   Engelborghs, Sebastiaan ^b,c   Heckman, Michael ^e   Litvan, Irene ^h   Crook, Julia ^e   De Deyn, Peter P ^b,c   Dickson, Dennis ^e   Schellenberg, Gerard D ^f,g   Van Broeckhoven, Christine ^a   Hutton, Michael L ^d   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d MAYO GRADUATE SCHOOL   (United States)

^e MAYO CLINIC   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

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

^h University of Louisville School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; TAU PROTEIN;

ADULT; AGED; ALLELE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; FREQUENCY ANALYSIS; GENE EXPRESSION REGULATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE MAPPING; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; RISK ASSESSMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; UNITED STATES;

AGE FACTORS; AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE COMPONENTS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LUCIFERASES; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS; UNITED STATES;

ANIMALIA;

EID: 27744488802     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi361     Document Type: Article

References (41)

1. Bower, J.H., Maraganore, D.M., McDonnell, S.K. and Rocca, W.A. (1997) Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990. Neurology, 49, 1284-1288.
2. Litvan, I., Agid, Y., Calne, D., Campbell, G., Dubois, B., Duvoisin, R.C., Goetz, C.G., Golbe, L.I., Grafman, J., Growdon, J.H. et al. (1996) Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDS-SPSP international workshop. Neurology, 47, 1-9.
3. Ebneth, A., Godemann, R., Stamer, K., Illenberger, S., Trinczek, B. and Mandelkow, E. (1998) Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic retziculum: Implications for Alzheimer's disease. J. Cell. Biol., 143, 777-794.
4. Hirokawa, N. (1994) Microtubule organization and dynamics dependent on microtubule-associated proteins. Curr. Opin. Cell Biol., 6, 74-81.
5. Goedert, M., Spillantini, M.G., Jakes, R., Rutherford, D. and Crowther, R.A. (1989) Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron, 3, 519-526.
6. Liu, W.K., Le, T.V., Adamson, J., Baker, M., Cookson, N., Hardy, J., Hutton, M., Yen, S.H. and Dickson, D.W. (2001) Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy. Ann. Neurol., 50, 494-502.
7. 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) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature, 393, 702-705.
8. Poorkaj, P., Bird, T.D., Wijsman, E., Nemens, E., Garruto, R.M., Anderson, L., Andreadis, A., Wiederholt, W.C., Raskind, M. and Schellenberg, G.D. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol., 43, 815-825.
9. Spillantini, M.G., Murrell, J.R., Goedert, M., Farlow, M.R., Klug, A. and Ghetti, B. (1998) Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl Acad. Sci. USA, 95, 7737-7741.
10. Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E. and Oliva, R. (2001) Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene. Ann. Neurol., 49, 263-267.
11. Rademakers, R., Cruts, M. and Van Broeckhoven, C. (2004) The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum. Mutat., 24, 277-295.
12. Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E. and Hutton, M. (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet., 8, 711-715.
13. Oliveira, S.A., Scott, W.K., Zhang, F., Stajich, J.M., Fujiwara, K., Hauser, M., Scott, B.L., Pericak-Vance, M.A., Vance, J.M. and Martin, E.R. (2004) Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype. Neurogenetics, 5, 147-155.
14. Pastor, P., Ezquerra, M., Perez, J.C., Chakraverty, S., Norton, J., Racette, B.A., McKeel, D., Perlmutter, J.S., Tolosa, E. and Goate, A.M. (2004) Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann. Neurol., 56, 249-258.
15. Pittman, A.M., Myers, A.J., Duckworth, J., Bryden, L., Hanson, M., Abou-Sleiman, P., Wood, N.W., Hardy, J., Lees, A. and de Silva, R. (2004) The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum. Mol. Genet., 13, 1267-1274.
16. Conrad, C., Andreadis, A., Trojanowski, J.Q., Dickson, D.W., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L.J. et al. (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann. Neurol., 41, 277-281.
17. Higgins, J.J., Golbe, L.I., De Biase, A., Jankovic, J., Factor, S.A. and Adler, R.L. (2000) An extended 5′-tau susceptibility haplotype in progressive supranuclear palsy. Neurology, 55, 1364-1367.
18. Morris, H.R., Janssen, J.C., Bandmann, O., Daniel, S.E., Rossor, M.N., Lees, A.J. and Wood, N.W. (1999) The tau gene AO polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. J. Neurol. Neurosurg. Psychiatry, 66, 665-667.
19. Oliva, R., Tolosa, E., Ezquerra, M., Molinuevo, J.L., Valldeoriola, F., Burguera, J., Calopa, M., Villa, M. and Ballesta, F. (1998) Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch. Neurol., 55, 1122-1124.
20. Di Maria, E., Tabaton, M., Vigo, T., Abbruzzese, G., Bellone, E., Donati, C., Frasson, E., Marchese, R., Montagna, P., Munoz, D.G. et al. (2000) Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann. Neurol., 47, 374-377.
21. Houlden, H., Baker, M., Morris, H.R., MacDonald, N., Pickering-Brown, S., Adamson, J., Lees, A.J., Rossor, M.N., Quinn, N.P., Kertesz, A. et al. (2001) Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology, 56, 1702-1706.
22. Farrer, M., Skipper, L., Berg, M., Bisceglio, G., Hanson, M., Hardy, J., Adam, A., Gwinn-Hardy, K. and Aasly, J. (2002) The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population. Neurosci. Lett., 322, 83-86.
23. Skipper, L., Wilkes, K., Toft, M., Baker, M., Lincoln, S., Hulihan, M., Ross, O.A., Hutton, M., Aasly, J. and Farrer, M. (2004) Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am. J. Hum. Genet., 75, 669-677.
24. Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V.G. et al. (2005) A common inversion under selection in Europeans. Nat. Genet., 37, 129-137.
25. Cruts, M., Rademakers, R., Gijselinck, I., van der, Z.J., Dermaut, B., De Pooter, T., De Rijk, P., Del Favero, J. and Van Broeckhoven, C. (2005) Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low copy repeats in the tau region. Hum. Mol. Genet, 14, 1753-1762.
26. Rademakers, R., Pals, P., Lohmann, E., Durr, A., Engelborghs, S., De Pooter, T., Van den Broeck, M., Camuzat, A., Nuytemans, K., Pickut, B.A., Cruts, M., De Deyn, P.P., Cras, P., Brice, A. and Van Broeckhoven, C. High-density SNP haplotyping in two independent Caucasian PD association samples implicates tau splicing in early-onset Parkinson's disease susceptibility. Hum. Mol. Genet, in review.
27. Andreadis, A., Wagner, B.K., Broderick, J.A. and Kosik, K.S. (1996) A tau promoter region without neuronal specificity. J. Neurochem., 66, 2257-2263.
28. Pittman, A.M., Myers, A.J., Abou-Sleiman, P., Fung, H.C., Kaleem, M., Marlowe, L., Duckworth, J., Leung, D., Williams, D., Kilford, L. et al. (2005) Linkage disequilibrium fine-mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J. Med. Genet, in press.
29. Bing, Z., Reddy, S.A., Ren, Y., Qin, J. and Liao, W.S. (1999) Purification and characterization of the serum amyloid A3 enhancer factor. J. Biol. Chem., 274, 24649-24656.
30. Kang, H.C., Chae, J.H., Kim, B.S., Han, S.Y., Kim, S.H., Auh, C.K., Yang, S.I. and Kim, C.G. (2004) Transcription factor CP2 is involved in activating mBMP4 in mouse mesenchymal stem cells. Mol. Cells, 17, 454-461.
31. Lau, K.F., Miller, C.C., Anderton, B.H. and Shaw, P.C. (1999) Molecular cloning and characterization of the human glycogen synthase kinase-3beta promoter. Genomics, 60, 121-128.
32. Kwok, J.B., Teber, E.T., Loy, C., Hallupp, M., Nicholson, G., Mellick, G.D., Buchanan, D.D., Silburn, P.A. and Schofield, P.R. (2004) Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann. Neurol., 55, 329-334.
33. Josephs, K.A. and Dickson, D.W. (2003) Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank. Mov. Disord., 18, 1018-1026.
34. Caselli, R.J., Osborne, D., Reiman, E.M., Hentz, J.G., Barbieri, C.J., Saunders, A.M., Hardy, J., Graff-Radford, N.R., Hall, G.R. and Alexander, G.E. (2001) Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: A replication study. J. Neurol. Sci., 189, 93-98.
35. Caselli, R.J., Hentz, J.G., Osborne, D., Graff-Radford, N.R., Barbieri, C.J., Alexander, G.E., Hall, G.R., Reiman, E.M., Hardy, J. and Saunders, A.M. (2002) Apolipoprotein E and intellectual achievement. J. Am. Geriatr. Soc., 50, 49-54.
36. Engelborghs, S., Dermaut, B., Goeman, J., Saerens, J., Marien, P., Pickut, B.A., Van den, B.M., Serneels, S., Cruts, M., Van Broeckhoven, C. et al. (2003) Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. J. Neurol. Neurosurg. Psychiatry, 74, 1148-1151.
37. Weckx, S., De Rijk, P., Van Broeckhoven, C. and Del Favero, J. (2004) SNPbox, a modular software package for large scale primer design. Bioinformatics, 21, 385-387.
38. Weckx, S., Del Favero, J., Rademakers, R., Claes, L., Cruts, M., De Jonghe, P., Van Broeckhoven, C. and De Rijk, P. (2005) novoSNP, a novel computational tool for sequence variation discovery. Genome Res., 15, 436-442.
39. Terwilliger, J. and Ott, J. (1994) Handbook of Human Genetic Linkage. John Hopkins University Press, Baltimore, MD.
40. Schaid, D.J., Rowland, C.M., Tines, D.E., Jacobson, R.M. and Poland, G.A. (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am. J. Hum. Genet., 70, 425-434.
41. Quandt, K., Frech, K., Karas, H., Wingender, E. and Werner, T. (1995) MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res., 23, 4878-4884.