[HTML][HTML] Interaction of the transcription factors USF1, USF2, and α-Pal/Nrf-1 with the FMR1 promoter: implications for fragile X mental retardation syndrome

D Kumari, K Usdin - Journal of Biological Chemistry, 2001 - ASBMB
Hypermethylation of the FMR1 promoter reduces its transcriptional activity, resulting in the
mental retardation and macroorchidism characteristic of Fragile X syndrome. How exactly
methylation causes transcriptional silencing is not known but is relevant if current attempts to
reactivate the gene are to be successful. Understanding the effect of methylation requires a
better understanding of the factors responsible for FMR1 gene expression. To this end we
have identified five evolutionarily conserved transcription factor binding sites in this promoter …