An ambitious EC-funded research initiative on epigenetics advancing towards systems biology

While the human genome is composed for more than 50% of repetitive sequences, they are largely ignored. To investigate the biological role of the repetitive (epi)genome in normal physiology and in disease, we study the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD). FSHD is one of the most important myopathies and it is an autosomal dominant disease caused by a reduction in the copy number of the D4Z4 macrosatellite repeat located at 4q35. A number of epigenetic events appear to affect the severity of the disease, its rate of progression and the distribution of muscle weakness. In particular, we recently found that a chromatin-associated long ncRNA regulates a Polycomb/Trithorax epigenetic switch at the basis of the disease. Besides understanding the molecular mechanism of FSHD, we have a more general interest in the role of DNA repeats and long ncRNAs in shaping the epigenome in skeletal muscle.

PhDs and postdoc involved in Epigenesys-related research:

• Valentina Caccia, PhD student
• Daphne Selvaggia Cabianca, Postdoc
• Claudia Huichalaf, PhD student
• Maria Victoria Neguembor, PhD student
• Valeria Runfola, PhD student