MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

ABSTRACT: The MAPT (microtubule-associated protein tau) locus is one of the most remarkable in neurogenetics due not only to its involvement in multiple neurodegenerative disorders, including progressive supranuclear palsy, corticobasal degeneration, Parksinson's disease and possibly Alzheimer's disease, but also due its genetic evolution and complex alternative splicing features which are, to some extent, linked and so all the more intriguing. Therefore, obtaining robust information regarding the expression, splicing and genetic regulation of this gene within the human brain is of immense importance. In this study, we used 2011 brain samples originating from 439 individuals to provide the most reliable and coherent information on the regional expression, splicing and regulation of MAPT available to

SUBMITTER: Trabzuni D 

PROVIDER: S-EPMC3428157 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature