Journal
NUCLEUS
Volume 9, Issue 1, Pages 276-290Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/19491034.2018.1460044
Keywords
Epigenetics; Emery Dreifuss Muscular Dystrophy; Lamin A/Cmechanotrasduction; nuclear architecture; transcription
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Funding
- flagship CNR projects (Epigen)
- AIRC [18535]
- AFMT Telethon (FR) [21030]
- flagship CNR projects (Interomics)
- Italian Ministry of Research and University [RBFR106S1Z_001]
- [GR-2013-02355413]
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The alteration of the several roles that Lamin A/C plays in the mammalian cell leads to a broad spectrum of pathologies that - all together - are named laminopathies. Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease. Historically, both a mechanical role of Lamin A/C and a regulative one have been suggested as the driving force of laminopathies; however, those two hypotheses are not mutually exclusive. Recent scientific evidence shows that Lamin A/C sustains the correct gene expression at the epigenetic level thanks to the Lamina Associated Domains (LADs) reorganization and the crosstalk with the Polycomb Group of Proteins (PcG). Furthermore, the PcG-dependent histone mark H3K27me3 increases under mechanical stress, finally pointing out the link between the mechano-properties of the nuclear lamina and epigenetics. Here, we summarize the emerging mechanisms that could explain the high variability seen in Emery Dreifuss muscular dystrophy.
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