We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Untangling the tau gene association with neurodegenerative disorders.
- Authors
Pittman, Alan M; Fung, Hon-Chung; de Silva, Rohan
- Abstract
Pathological tau protein inclusions have long been recognized to define the diverse range of neurodegenerative disorders called the tauopathies, which include Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration. Mutations in the tau gene, MAPT, cause familial frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), and common variation in MAPT is strongly associated with the risk of PSP, corticobasal degeneration and, to a lesser extent, AD and Parkinson's disease (PD), implicating the involvement of tau in common neurodegenerative pathway(s). This review will discuss recent work towards the unravelling of the functional basis of this MAPT gene association. The region of chromosome 17q21 containing MAPT locus is characterized by the complex genomic architecture, including a large inversion that leads to a bipartite haplotype architecture, an inversion-mediated deletion and multiplications resulting from non-allelic homologous recombination between the MAPT family of low-copy repeats.
- Publication
Human molecular genetics, 2006, Vol 15 Spec No 2, pR188
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/ddl190