Association of an extended haplotype in the tau gene with progressive supranuclear palsy

被引：637

作者：

Baker, M

Litvan, I

Houlden, H

Adamson, J

Dickson, D

Perez-Tur, J

Hardy, J

Lynch, T

Bigio, E

Hutton, M

机构：

[1] Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

[2] NINDS, NIH, Bethesda, MD 20892 USA

[3] Univ Texas, SW Med Ctr, Dallas, TX 75235 USA

[4] Mater Misericordiae Hosp, Dublin 7, Ireland

来源：

HUMAN MOLECULAR GENETICS | 1999年 / 8卷 / 04期

关键词：

D O I：

10.1093/hmg/8.4.711

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe two extended haplotypes that cover the human tau gene. In a total of similar to 200 unrelated caucasian individuals there is complete disequilibrium between polymorphisms which span the gene (which covers similar to 100 kb of DNA), This suggests that the establishment of the two haplotypes was an ancient event and either that recombination is suppressed in this region, or that recombinant genes are selected against. Furthermore, we shaw that the more common haplotype (H1) is significantly over-represented in patients with progressive supranuclear palsy (PSP), extending earlier reports of an association between an intronic dinucleotide polymorphism and PSP.

引用

页码：711 / 715

页数：5

共 19 条

[11] THE MICROTUBULE BINDING DOMAIN OF TAU-PROTEIN [J].

LEE, G ;

NEVE, RL ;

KOSIK, KS .

NEURON, 1989, 2 (06) :1615-1624

[12] Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDS-SPSP International Workshop [J].

Litvan, I ;

Agid, Y ;

Calne, D ;

Campbell, G ;

Dubois, B ;

Duvoisin, RC ;

Goetz, CG ;

Golbe, LI ;

Grafman, J ;

Growdon, JH ;

Hallett, M ;

Jankovic, J ;

Quinn, NP ;

Tolosa, E ;

Zee, DS ;

Chase, TN ;

FitzGibbon, EJ ;

Hall, Z ;

Juncos, J ;

Nelson, KB ;

Oliver, E ;

Pramstaller, P ;

Reich, SG ;

Verny, M .

NEUROLOGY, 1996, 47 (01) :1-9

[13]

MORRIS HR, 1999, IN PRESS J NEUROL NE

[14] Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection [J].

Oliva, R ;

Tolosa, E ;

Ezquerra, M ;

Molinuevo, JL ;

Valldeoriola, F ;

Burguera, J ;

Calopa, M ;

Villa, M ;

Ballesta, F .

ARCHIVES OF NEUROLOGY, 1998, 55 (08) :1122-1124

[15] Tau is a candidate gene for chromosome 17 frontotemporal dementia [J].

Poorkaj, P ;

Bird, TD ;

Wijsman, E ;

Nemens, E ;

Garruto, RM ;

Anderson, L ;

Andreadis, A ;

Wiederholt, WC ;

Raskind, M ;

Schellenberg, GD .

ANNALS OF NEUROLOGY, 1998, 43 (06) :815-825

[16]

Spillantini MG, 1998, BRAIN PATHOL, V8, P387

[17] Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau [J].

Spillantini, MG ;

Crowther, RA ;

Kamphorst, W ;

Heutink, P ;

van Swieten, JC .

AMERICAN JOURNAL OF PATHOLOGY, 1998, 153 (05) :1359-1363

[18] Tau protein pathology in neurodegenerative diseases [J].

Spillantini, MG ;

Goedert, M .

TRENDS IN NEUROSCIENCES, 1998, 21 (10) :428-433

[19] Mutation in the tau gene in familial multiple system tauopathy with presenile dementia [J].

Spillantini, MG ;

Murrell, JR ;

Goedert, M ;

Farlow, MR ;

Klug, A ;

Ghetti, B .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (13) :7737-7741

← 1 2 →