X inactivation and reactivation in X-linked diseases

Marcella Vacca, Floriana Della Ragione, Francesco Scalabrì, Maurizio D'Esposito

Research output: Contribution to journalArticlepeer-review


X chromosome inactivation (XCI) is the phenomenon by which mammals compensate for dosage of X-linked genes in females (XX) versus males (XY). XCI patterns can be random or show extreme skewing, and can modify the mode of inheritance of X-driven phenotypes, which contributes to the variability of human pathologies. Recent findings have shown reversibility of the XCI process, which has opened new avenues in the approaches used for the treatment of X-linked diseases.

Original languageEnglish
JournalSeminars in Cell and Developmental Biology
Publication statusAccepted/In press - Jan 5 2016


  • MECP2
  • Neurological diseases
  • Rett syndrome
  • X inactivation
  • X-linked diseases

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology


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