R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

@inproceedings{Groh2014RloopsAW,
  title={R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome},
  author={Matthias Groh and Michele M. P. Lufino and Richard Wade‐Martins and Natalia Gromak},
  booktitle={PLoS genetics},
  year={2014}
}
Friedreich ataxia (FRDA) and Fragile X syndrome (FXS) are among 40 diseases associated with expansion of repeated sequences (TREDs). Although their molecular pathology is not well understood, formation of repressive chromatin and unusual DNA structures over repeat regions were proposed to play a role. Our study now shows that RNA/DNA hybrids (R-loops) form in patient cells on expanded repeats of endogenous FXN and FMR1 genes, associated with FRDA and FXS. These transcription-dependent R-loops… CONTINUE READING

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Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

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