The MAPT locus-a genetic paradigm in disease susceptibility

被引：23

作者：

Wade-Martins, Richard ^{[1
]}

机构：

[1] Univ Oxford, Oxford Parkinsons Dis Ctr, Dept Physiol Anat & Genet, Oxford OX1 3QX, England

来源：

NATURE REVIEWS NEUROLOGY | 2012年 / 8卷 / 09期

基金：

英国惠康基金;

关键词：

HAPLOTYPE-SPECIFIC EXPRESSION; DIFFERENTIAL REGULATION; TAU; RISK;

D O I：

10.1038/nrneurol.2012.169

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Understanding how genetic variation can confer susceptibility to neurological disease is an urgent priority. A new gene-expression study has explored the relationship between DNA sequence variation at the microtubule-associated protein tau (MAPT) locus and MAPT expression in the brain, providing an exciting new paradigm for the field.

引用

页码：477 / 478

页数：2

共 10 条

[1] Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus [J].

Caffrey, Tara M. ;

Joachim, Catharine ;

Wade-Martins, Richard .

NEUROBIOLOGY OF AGING, 2008, 29 (12) :1923-1929

[2] Haplotype-specific expression of exon 10 at the human MAPT locus [J].

Caffrey, Tara M. ;

Joachim, Catharine ;

Paracchini, Silvia ;

Esiri, Margaret M. ;

Wade-Martins, Richard .

HUMAN MOLECULAR GENETICS, 2006, 15 (24) :3529-3537

[3] Differential regulation of dynein and kinesin motor proteins by tau [J].

Dixit, Ram ;

Ross, Jennifer L. ;

Goldman, Yale E. ;

Holzbaur, Erika L. F. .

SCIENCE, 2008, 319 (5866) :1086-1089

[4] Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy [J].

Hoeglinger, Guenter U. ;

Melhem, Nadine M. ;

Dickson, Dennis W. ;

Sleiman, Patrick M. A. ;

Wang, Li-San ;

Klei, Lambertus ;

Rademakers, Rosa ;

de Silva, Rohan ;

Litvan, Irene ;

Riley, David E. ;

van Swieten, John C. ;

Heutink, Peter ;

Wszolek, Zbigniew K. ;

Uitti, Ryan J. ;

Vandrovcova, Jana ;

Hurtig, Howard I. ;

Gross, Rachel G. ;

Maetzler, Walter ;

Goldwurm, Stefano ;

Tolosa, Eduardo ;

Borroni, Barbara ;

Pastor, Pau ;

Cantwell, Laura B. ;

Han, Mi Ryung ;

Dillman, Allissa ;

van der Brug, Marcel P. ;

Gibbs, J. Raphael ;

Cookson, Mark R. ;

Hernandez, Dena G. ;

Singleton, Andrew B. ;

Farrer, Matthew J. ;

Yu, Chang-En ;

Golbe, Lawrence I. ;

Revesz, Tamas ;

Hardy, John ;

Lees, Andrew J. ;

Devlin, Bernie ;

Hakonarson, Hakon ;

Mueller, Ulrich ;

Schellenberg, Gerard D. .

NATURE GENETICS, 2011, 43 (07) :699-U125

[5] Dendritic Function of Tau Mediates Amyloid-β Toxicity in Alzheimer's Disease Mouse Models [J].

Ittner, Lars M. ;

Ke, Yazi D. ;

Delerue, Fabien ;

Bi, Mian ;

Gladbach, Amadeus ;

van Eersel, Janet ;

Woelfing, Heidrun ;

Chieng, Billy C. ;

Christie, MacDonald J. ;

Napier, Ian A. ;

Eckert, Anne ;

Staufenbiel, Matthias ;

Hardeman, Edna ;

Goetz, Juergen .

CELL, 2010, 142 (03) :387-397

[6] The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts [J].

Myers, Amanda J. ;

Pittman, Alan M. ;

Zhao, Alice S. ;

Rohrer, Kristen ;

Kaleem, Mona ;

Marlowe, Lauren ;

Lees, Andrew ;

Leung, Doris ;

McKeith, Ian G. ;

Perry, Robert H. ;

Morris, Chris M. ;

Trojanowski, John Q. ;

Clark, Christopher ;

Karlawish, Jason ;

Arnold, Steve ;

Forman, Mark S. ;

Van Deerlin, Vivianna ;

de Silva, Rohan ;

Hardy, John .

NEUROBIOLOGY OF DISEASE, 2007, 25 (03) :561-570

[7] Differential regulation of microtubule dynamics by three- and four-repeat tau: Implications for the onset of neurodegenerative disease [J].

Panda, D ;

Samuel, JC ;

Massie, M ;

Feinstein, SC ;

Wilson, L .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (16) :9548-9553

[8] A common inversion under selection in Europeans [J].

Stefansson, H ;

Helgason, A ;

Thorleifsson, G ;

Steinthorsdottir, V ;

Masson, G ;

Barnard, J ;

Baker, A ;

Jonasdottir, A ;

Ingason, A ;

Gudnadottir, VG ;

Desnica, N ;

Hicks, A ;

Gylfason, A ;

Gudbjartsson, DF ;

Jonsdottir, GM ;

Sainz, J ;

Agnarsson, K ;

Birgisdottir, B ;

Ghosh, S ;

Olafsdottir, A ;

Cazier, JB ;

Kristjansson, K ;

Frigge, ML ;

Thorgeirsson, TE ;

Gulcher, JR ;

Kong, A ;

Stefansson, K .

NATURE GENETICS, 2005, 37 (02) :129-137

[9]

Trabzuni D., Hum Mol Genet

[10] Tau Isoform Composition Influences Rate and Extent of Filament Formation [J].

Zhong, Qi ;

Congdon, Erin E. ;

Nagaraja, Haikady N. ;

Kuret, Jeff .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (24) :20711-20719

← 1 →