Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.

@article{Pantera2018RegulationOT,
  title={Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.},
  author={Harrison Pantera and John J M Moran and Holly A Hung and Evgenia D. Pak and Amalia Dutra and John Svaren},
  journal={Human molecular genetics},
  year={2018},
  volume={27 16},
  pages={
          2830-2839
        }
}
Peripheral nerve myelination is adversely affected in the most common form of the hereditary peripheral neuropathy called Charcot-Marie-Tooth Disease. This form, classified as CMT1A, is caused by a 1.4 Mb duplication on chromosome 17, which includes the abundantly expressed Schwann cell myelin gene, Peripheral Myelin Protein 22 (PMP22). This is one of the… CONTINUE READING