Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

被引：42

作者：

de Silva, R

Weiler, M

Morris, HR

Martin, ER

Wood, NW

Lees, AJ

机构：

[1] UCL Royal Free & Univ Coll Med Sch, Reta Lila Weston Inst Neurol Studies, London W1T 4JF, England

[2] Univ London, Inst Neurol, Dept Clin Neurol, Neurogenet Sect, London WC1N 3BG, England

[3] Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USA

[4] Univ London, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England

来源：

NEUROSCIENCE LETTERS | 2001年 / 311卷 / 03期

关键词：

progressive supranuclear palsy; parkinsonism; polymorphism; tau; promoter; neurodegeneration; tauopathy;

D O I：

10.1016/S0304-3940(01)02109-7

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：145 / 148

页数：4

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