Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

@inproceedings{Greene2007RepeatinducedEC,
  title={Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia},
  author={Eriko Greene and Lata H Mahishi and Ali Entezam and Daman Kumari and Karen Usdin},
  booktitle={Nucleic acids research},
  year={2007}
}
Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene. The vast majority of FRDA mutations involve expansion of a GAA*TTC-repeat tract in intron 1, which leads to an FXN mRNA deficit. Bisulfite mapping demonstrates that the region adjacent to the repeat was methylated in both unaffected and affected individuals. However, methylation was more extensive in patients. Additionally, three residues were almost completely methylation-free in… CONTINUE READING
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