The tau gene in progressive supranuclear palsy: Exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases

Vincenzo Bonifati, Marijke Joosse, David J. Nicholl, Nicola Vanacore, Phil Bennett, Patrizia Rizzu, Giovanni Fabbrini, Roberto Marconi, Carlo Colosimo, Nicoletta Locuratolo, Fabrizio Stocchi, Ubaldo Bonuccelli, Michele De Mari, Gregor Wenning, Peter Vieregge, Ben Oostra, Giuseppe Meco, Peter Heutink

Research output: Contribution to journalArticle

Abstract

Mutations in coding exons or exon 10 5'-splice-site of the gene for microtubule-associated protein tau can cause chromosome 17-linked frontotemporal dementia and parkinsonism (FTDP-17). We sequenced the 11 coding exons plus exon-intron boundaries of the tau gene in 15 cases of progressive supranuclear palsy (PSP), and found no mutations in coding exons or exon ten 5'-splice sites. These data indicate that typical PSP is not associated with tau gene mutations similar to those causing FTDP-17. We also observed a +39ΔG base change in the intron following exon 4 in three out of 69 PSP cases (all three Italians), whereas it was not found in 150 Dutch controls and once in 112 Italian controls. The +39ΔG variant arose in the context of the PSP-associated tau H1 haplotype. Although a pathogenic role cannot be entirely excluded, +39ΔG is likely to be a rare polymorphism that may be in linkage disequilibrium with a biologically relevant locus inside or near to the tau gene. Copyright (C) 1999 Elsevier Science Ireland Ltd.

Original languageEnglish
Pages (from-to)61-65
Number of pages5
JournalNeuroscience Letters
Volume274
Issue number1
DOIs
Publication statusPublished - Oct 15 1999

Keywords

  • +39ΔG variant
  • Exon 4
  • Progressive supranuclear palsy
  • R406W mutation
  • Sequencing
  • Splicing effect
  • Tau gene

ASJC Scopus subject areas

  • Neuroscience(all)

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    Bonifati, V., Joosse, M., Nicholl, D. J., Vanacore, N., Bennett, P., Rizzu, P., Fabbrini, G., Marconi, R., Colosimo, C., Locuratolo, N., Stocchi, F., Bonuccelli, U., De Mari, M., Wenning, G., Vieregge, P., Oostra, B., Meco, G., & Heutink, P. (1999). The tau gene in progressive supranuclear palsy: Exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases. Neuroscience Letters, 274(1), 61-65. https://doi.org/10.1016/S0304-3940(99)00669-2