Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

ABSTRACT:

Background

Chromosome 17q21.31 contains a common inversion polymorphism of approximately 900 kb in populations with European ancestry. Two divergent MAPT haplotypes, H1 and H2 are described with distinct linkage disequilibrium patterns across the region reflecting the inversion status at this locus. The MAPT H1 haplotype has been associated with progressive supranuclear palsy, corticobasal degeneration, Parkinson's disease and Alzheimer's disease, while the H2 is linked to recurrent deletion events associated with the 17q21.31 microdeletion syndrome, a disease characterized by developmental delay and learning disability.

Results

In this study, we investigate the effect of the inversion on the expression of genes in the 17q21.31 region. We find the expression of several genes

SUBMITTER: de Jong S 

PROVIDER: S-EPMC3582489 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature