Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.

ABSTRACT: The molecular dysfunction in X-linked dystonia-parkinsonism is not completely understood. Thus far, only noncoding alterations have been found in genetic analyses, located in or nearby the TATA-box binding protein-associated factor 1 (TAF1) gene. Given that this gene is ubiquitously expressed and is a critical component of the cellular transcription machinery, we sought to study differential gene expression in peripheral models by performing microarray-based expression profiling in blood and fibroblasts, and comparing gene expression in affected individuals vs. ethnically matched controls. Validation was performed via quantitative polymerase chain reaction in discovery and independent replication sets. We observed consistent downregulation of common TAF1 transcripts in samples from affecte

SUBMITTER: Domingo A 

PROVIDER: S-EPMC11108471 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature