Repetitive elements dynamics in cell identity programming, maintenance and disease

The days of 'junk DNA' seem to be over. The rapid progress of genomics technologies has been unveiling unexpected mechanisms by which repetitive DNA and in particular transposable elements (TEs) have evolved, becoming key issues in understanding genome structure and function. Indeed, rather than 'parasites', recent findings strongly suggest that TEs may have a positive function by contributing to tissue specific transcriptional programs, in particular as enhancer-like elements and/or modules for regulation of higher order chromatin structure. Further, it appears that during development and aging genomes experience several waves of TEs activation, and this contributes to individual genome shaping during lifetime. Interestingly, TEs activity is major target of epigenomic regulation. These findings are shedding new light on the genome-phenotype relationship and set the premises to help to explain complex disease manifestation, as consequence of TEs activity deregulation.

Bodega, B., & Orlando, V. (2014). Repetitive elements dynamics in cell identity programming, maintenance and disease. Current Opinion in Cell Biology, 31, 67–73. doi:10.1016/

We thank Federica Marasca and Chiara Lanzuolo for helpful comments and criticisms on the manuscript. The original work of the lab is supported by EPIGEN Italian flagship program (to BB and VO) and King Abdullah University of Science and Technology (KAUST) to VO.

Elsevier BV

Current Opinion in Cell Biology


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