Tangle diseases and the tau haplotypes.
Neurofibrillary tangles are found in many neurologic diseases. Here we review the unusual characteristics of the MAPT locus, which shows genetic association with many of these diseases and in Caucasian populations, is the largest stretch of linkage disequilibrium in the genome. We discuss the reason for this disequilibrium, its evolutionary history, and the role of genetic variability at MAPT in the etiology of tauopathies.
Hardy
John
J
Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20852, USA. hardyj@mail.nih.gov
Pittman
Alan
A
Myers
Amanda
A
Fung
Hon Chung
HC
de Silva
Rohan
R
Duckworth
Jaime
J
D000544:Alzheimer Disease / Q000235:genetics*; D000818:Animals; D007446:Chromosome Inversion / Q000235:genetics*; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000235:genetics; D018450:Disease Progression; D020440:Gene Duplication; D014644:Genetic Variation / Q000235:genetics; D006239:Haplotypes; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016874:Neurofibrillary Tangles / Q000235:genetics*; D002679:Pan troglodytes; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D024801:Tauopathies / Q000235:genetics*; D016875:tau Proteins
D018076:DNA, Complementary; C054369:MAPT protein, human; D009419:Nerve Tissue Proteins; D016875:tau Proteins