The Effect of Glucocorticoids on TAF1 Gene Transcription in X-linked Dystonia Parkinsonism.

ABSTRACT:

Objective

X-linked Dystonia Parkinsonism (XDP) is associated with a SINE-VNTR- Alu (SVA) retrotransposon insertion in an intron of the TAF1 gene that alters gene transcription and splicing. In this study, we determined if the SVA insertion introduces glucocorticoid (GC)-responsive cis-regulatory elements that may contribute to dysregulated TAF1 transcription and XDP disease progression.

Methodology

We performed in silico analysis to identify potential GC receptor (GR) binding sites within the XDP-SVA. We also conducted promoter-reporter assays on HeLa and HEK293T cells to assess the intrinsic promoter activity of three XDP-SVA variants representing different hexameric repeat lengths associated with differences in disease onset. We treated XDP fibr

SUBMITTER: Cruz SED 

PROVIDER: S-EPMC10207867 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature