Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders

@inproceedings{Usdin2015RepeatmediatedED,
  title={Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders},
  author={Karen Usdin and Daman Kumari},
  booktitle={Front. Genet.},
  year={2015}
}
The fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus. The repeat responsible for disease pathology in the fragile X-related disorders is CGG/CCG and the repeat tract is located in the 5' UTR of the FMR1 gene, whose protein product FMRP, is important for the proper translation of dendritic mRNAs in response to synaptic activation. There are two… CONTINUE READING