Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.

@article{Baralle2008InfluenceOF,
  title={Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.},
  author={Marco Baralle and Tibor Pastor and Erica Bussani and Franco Pagani},
  journal={American journal of human genetics},
  year={2008},
  volume={83 1},
  pages={
          77-88
        }
}
The intronic GAA repeat expansion in the frataxin (FXN) gene causes the hereditary neurodegenerative disorder Friedreich ataxia. Although it is generally believed that GAA repeats block transcription elongation, direct proof in eukaryotic systems is lacking. We tested in hybrid minigenes the effect of GAA and TTC repeats on nascent transcription and pre-mRNA processing. Unexpectedly, disease-causing GAA(100) repeats did not affect transcriptional elongation in a nuclear HeLa Run On assay, nor… CONTINUE READING
BETA

References

Publications referenced by this paper.
SHOWING 1-10 OF 62 REFERENCES

Similar Papers

Loading similar papers…