Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo.

@article{Smith2004OccupancyAS,
  title={Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo.},
  author={Karen T. Smith and Bradford W. Coffee and Daniel Reines},
  journal={Human molecular genetics},
  year={2004},
  volume={13 15},
  pages={1611-21}
}
Fragile X syndrome is due to mutation of the FMR1 gene. The most common mutation is an expansion of a CGG repeat in the 5' UTR that triggers dense DNA methylation and formation of a heterochromatin-like structure which lead to transcriptional silencing. In vitro experiments have identified several transcription factors, including Sp1, Nrf-1 and USF1/2, as potential regulators of normal FMR1 promoter activity. Using CpG methylation-deficient Drosophila cells, we demonstrate in vivo that Nrf-1… CONTINUE READING
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