Parkinsonism & Related Disorders
Volume 15, Issue 1 , Pages 2-5 , January 2009

From 1997 to 2007: A decade journey through the H1 haplotype on 17q21 chromosome

  • Kallirhoe Kalinderi

      Affiliations

    • Department of General Biology, Medical School, Aristotle University of Thessaloniki, GR-54124 Thessaloniki, Greece
    • ,
  • Liana Fidani

      Affiliations

    • Department of General Biology, Medical School, Aristotle University of Thessaloniki, GR-54124 Thessaloniki, Greece
    • Corresponding Author InformationCorresponding author. Tel.: +30 2310 999165.
    • ,
  • Sevasti Bostantjopoulou

      Affiliations

    • 3rd Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece

Received 18 November 2007 ,Revised 29 February 2008 ,Accepted 1 March 2008.

References 

  1. Garcia ML, Cleveland DW. Going new places using an old MAP: tau, microtubules and human neurodegenerative disease. Curr Opin Cell Biol. 2001;13:41–48[review]
  2. Galpern W, Lang A. Interface between tauopathies and synucleinopathies: a tale of two proteins. Ann Neurol. 2006;59:449–458
  3. Lee VM, Goedert M, Trojanowski JQ. Neurodegenerative tauopathies. Annu Rev Neurosci. 2001;24:1121–1159
  4. Andreadis A, Brown W, Kosik K. Structure and novel exons of the human tau gene. Biochemistry. 1992;31:10626–10633
  5. Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron. 1989;3:519–526
  6. Goedert M, Jakes R. Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J. 1990;9:4225–4230
  7. Takanashi M, Mori H, Arima K, Mizuno Y, Hattori N. Expression patterns of tau mRNA isoforms correlate with susceptible lesions in progressive supranuclear palsy and corticobasal degeneration. Brain Res Mol Brain Res. 2002;104:210–219
  8. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998;393:702–705
  9. Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol. 1997;41:277–281
  10. Oliva R, Tolosa E, Ezquerra M, Molinuevo JL, Valldeoriola F, Burguera J, et al. Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch Neurol. 1998;55:1122–1124
  11. Bennett P, Bonifati V, Bonuccelli U, Colosimo C, De Mari M, Fabbrini G, et al. Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium. Neurology. 1998;51:982–985
  12. Di Maria E, Tabaton M, Vigo T, Abbruzzese G, Bellone E, Donati C, et al. Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol. 2000;47:374–377
  13. Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology. 2001;56:1702–1706
  14. Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet. 1999;8:711–715
  15. Ezquerra M, Pastor P, Valldeoriola F, Molinuevo JL, Blesa R, Tolosa E, et al. Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans. Neurosci Lett. 1999;275:183–186
  16. de Silva R, Weiler M, Morris HR, Martin ER, Wood NW, Lees AJ. Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy. Neurosci Lett. 2001;311:145–148
  17. Pastor P, Ezquerra M, Tolosa E, Muñoz E, Martí MJ, Valldeoriola F, et al. Further extension of the H1 haplotype associated with progressive supranuclear palsy. Mov Disord. 2002;17:550–556
  18. Pastor P, Ezquerra M, Perez JC, Chakraverty S, Norton J, Racette BA, et al. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann Neurol. 2004;56:249–258
  19. Pittman AM, Myers AJ, Duckworth J, Bryden L, Hanson M, Abou-Sleiman P, et al. The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum Mol Genet. 2004;13:1267–1274
  20. Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, et al. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet. 2005;42:837–846
  21. Pastor P, Ezquerra M, Muñoz E, Martí MJ, Blesa R, Tolosa E, et al. Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol. 2000;47:242–245
  22. Farrer M, Skipper L, Berg M, Bisceglio G, Hanson M, Hardy J, et al. The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population. Neurosci Lett. 2002;322:83–86
  23. Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, et al. Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol. 2002;59:935–939
  24. Sobrido MJ, Abu-Khalil A, Weintraub S, Johnson N, Quinn B, Cummings JL, et al. Possible association of the tau H1/H1 genotype with primary progressive aphasia. Neurology. 2003;60:862–864
  25. Thorisson GA, Smith AV, Krishnan L, Stein LD. The International HapMap Project Web site. Genome Res. 2005;15:1592–1593
  26. Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet. 2005;14:3281–3292
  27. Fung HC, Evans J, Evans W, Duckworth J, Pittman A, de Silva R, et al. The architecture of the tau haplotype block in different ethnicities. Neurosci Lett. 2005;377:81–84
  28. Hardy J, Pittman A, Myers A, Gwinn-Hardy K, Fung HC, de Silva R, et al. Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens. Biochem Soc Trans. 2005;33:582–585[review]
  29. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, et al. A common inversion under selection in Europeans. Nat Genet. 2005;37:129–137
  30. Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, et al. 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. 2005;14:1753–1762
  31. Gijselinck I, Bogaerts V, Rademakers R, van der Zee J, Van Broeckhoven C, Cruts M. Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients. Hum Mutat. 2006;27:1057–1059
  32. Bernardi L, Maletta RG, Tomaino C, Smirne N, Di Natale M, Perri M, et al. The effects of APOE and tau gene variability on risk of frontotemporal dementia. Neurobiol Aging. 2006;27:702–709
  33. Laws SM, Friedrich P, Diehl-Schmid J, Müller J, Ibach B, Bäuml J, et al. Genetic analysis of MAPT haplotype diversity in frontotemporal dementia. Neurobiol Aging. 2007 Mar 24;
  34. Russ C, Lovestone S, Baker M, Pickering-Brown SM, Andersen PM, Furlong R, et al. The extended haplotype of the microtubule associated protein tau gene is not associated with Pick's disease. Neurosci Lett. 2001;299:156–158
  35. Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, et al. The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum Mol Genet. 2005;14:2399–2404
  36. Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, et al. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis. 2007;25:561–570
  37. Healy DG, Abou-Sleiman PM, Lees AJ, Casas JP, Quinn N, Bhatia K, et al. Tau gene and Parkinson's disease: a case–control study and meta-analysis. J Neurol Neurosurg Psychiatry. 2004;75:962–965
  38. Zhang J, Song Y, Chen H, Fan D. The tau gene haplotype h1 confers a susceptibility to Parkinson's disease. Eur Neurol. 2005;53:15–21
  39. Fidani L, Kalinderi K, Bostantjopoulou S, Clarimon J, Goulas A, Katsarou Z, et al. Association of the Tau haplotype with Parkinson's disease in the Greek population. Mov Disord. 2006;21:1036–1039
  40. Fung HC, Xiromerisiou G, Gibbs JR, Wu YR, Eerola J, Gourbali V, et al. Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts. Neurodegener Dis. 2006;3:327–333
  41. Zabetian CP, Hutter CM, Factor SA, Nutt JG, Higgins DS, Griffith A, et al. Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease. Ann Neurol. 2007;62:137–144
  42. Winkler S, Konig IR, Lohmann-Hedrich K, Vieregge P, Kostic V, Klein C. Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease. Eur J Hum Genet. 2007;15:1163–1168
  43. Kobayashi H, Ujike H, Hasegawa J, Yamamoto M, Kanzaki A, Sora I. Correlation of tau gene polymorphism with age at onset of Parkinson's disease. Neurosci Lett. 2006;405:202–206
  44. Kwok JB, Teber ET, Loy C, Hallup M, Nicholson G, Mellick GD, et al. Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol. 2004;55:329–334
  45. Caffrey TM, Joachim C, Paracchini S, Esiri MM, Wade-Martins R. Haplotype-specific expression of exon 10 at the human MAPT locus. Hum Mol Genet. 2006;15:3529–3537
  46. Llado A, Ezquerra M, Gaig C, Sanchez-Valle R, Tolosa E, Molinuevo JL. Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients. J Neural Transm. 2007;114:1585–1588
  47. Caffrey TM, Joachim C, Wade-Martins R. Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus. Neurobiol Aging. 2007 Jun 27;
  48. Hernández F, Avila J. Tauopathies. Cell Mol Life Sci. 2007;64:2219–2233[review]
  49. Goris A, Williams-Gray CH, Clark GR, Foltynie T, Lewis SJ, Brown J, et al. Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Ann Neurol. 2007;62:145–153
  50. Kwok JB, Hallupp M, Loy CT, Chan DK, Woo J, Mellick GD, et al. GSK3B polymorphisms alter transcription and splicing in Parkinson's disease. Ann Neurol. 2005;58:829–839

PII: S1353-8020(08)00094-1

doi: 10.1016/j.parkreldis.2008.03.001

Parkinsonism & Related Disorders
Volume 15, Issue 1 , Pages 2-5 , January 2009

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