title: Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy.
abstract: The microtubule associated protein, tau, is found in fibrillar lesions that characterise progressive supranuclear palsy (PSP) and related tauopathies. Mutations in the tau gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and genetic association of the H1 haplotype of the tau gene with PSP has firmly established a direct role for tau in disease pathogenesis. However, the functional significance of the tau genetic association in PSP is unknown. We analysed the tau gene promoter sequence and identified two novel single nucleotide polymorphisms. Here we report the genetic association of a novel tau promoter haplotype with PSP which may influence tau transcription.
authors.affiliation: Reta Lila Weston Institute of Neurological Studies, Royal Free and University College Medical School, Windeyer Building, 46 Cleveland Street, London, W1T 4JF, UK. rsilva@ion.ucl.ac.uk
authors.forename: R
authors.initials: R
authors.lastname: de Silva
authors.forename: M
authors.initials: M
authors.lastname: Weiler
authors.forename: H R
authors.initials: HR
authors.lastname: Morris
authors.forename: E R
authors.initials: ER
authors.lastname: Martin
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: A J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000502:physiology; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000502:physiology; D020641:Polymorphism, Single Nucleotide / Q000502:physiology*; D011401:Promoter Regions, Genetic / Q000502:physiology*; D020598:Proto-Oncogene Proteins c-myb / Q000235:genetics; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D020598:Proto-Oncogene Proteins c-myb; D016875:tau Proteins