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RNA Biol. 2012 Oct;9(10):1211-7. doi: 10.4161/rna.21922. Epub 2012 Oct 1.

A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA.

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Dulbecco Telethon Institute and Division of Regenerative Medicine, Stem cells, and Gene therapy, San Raffaele Scientific Institute, Milan, Italy.


Two thirds of the human genome is composed of repetitive sequences. Despite their prevalence, DNA repeats are largely ignored. The vast majority of our genome is transcribed to produce non protein-coding RNAs. Among these, long non protein-coding RNAs represent the most prevalent and functionally diverse class. The relevance of the non protein-coding genome to human disease has mainly been studied regarding the altered microRNA expression and function in human cancer. On the contrary, the elucidation of the involvement of long non-coding RNAs in disease is only in its infancy. We have recently found that a chromatin associated, long non protein-coding RNA regulates a Polycomb/Trithorax epigenetic switch at the basis of the repeat associated facioscapulohumeral muscular dystrophy, a common muscle disorder. Based on this, we propose that long non-coding RNAs produced by repetitive sequences contribute in shaping the epigenetic landscape in normal human physiology and in disease.


chromatin; muscular dystrophy; non protein-coding RNA; polycomb; repetitive element; trithorax

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