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A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
Open accessAbstract
Repetitive sequences account for more than 50% of the human genome. Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease associated with reduction in the copy number of the D4Z4 repeat mapping to 4q35. By an unknown mechanism, D4Z4 deletion causes an epigenetic switch leading to de-repression of 4q35 genes. Here we show that the Polycomb group of epigenetic repressors targets D4Z4 in healthy subjects and that D4Z4 deletion is associated with reduced Polycomb silencing in FSHD patients. We identify DBE-T, a chromatin-associated noncoding RNA produced selectively in FSHD patients that coordinates de-repression of 4q35 genes. DBE-T recruits the Trithorax group protein Ash1L to the FSHD locus, driving histone H3 lysine 36 dimethylation, chromatin remodeling, and 4q35 gene transcription. This study provides insights into the biological function of repetitive sequences in regulating gene expression and shows how mutations of such elements can influence the progression of a human genetic disease.
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Cites
The Polycomb complex PRC2 and its mark in life
Margueron, R., & Reinberg, D. (2011) · Nature · doi:10.1038/nature09784 · Cited by 3,347
Stock, J. K., Giadrossi, S., Casanova, M., Brookes, E., Vidal, M., Koseki, H., Brockdorff, N., Fisher, A. G., & Pombo, A. (2007) · Nature Cell Biology · doi:10.1038/ncb1663 · Cited by 650
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration
Kaneko, H., Dridi, S., Tarallo, V., Gelfand, B. D., Fowler, B. J., Cho, W. G., Kleinman, M. E., Ponicsan, S. L., Hauswirth, W. W., Chiodo, V. A., et al. (2011) · Nature · doi:10.1038/nature09830 · Cited by 601
The histone variant macroH2A is an epigenetic regulator of key developmental genes
Buschbeck, M., Uribesalgo, I., Wibowo, I., Rué, P., Martin, D., Gutierrez, A., Morey, L., Guigó, R., López-Schier, H., & Di Croce, L. (2009) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1665 · Cited by 192 · cited 1×
“Furthermore, the repressive histone variant macroH2A, overlapping locally and functionally with PRC2 (Buschbeck et al., 2009), was enriched at the FSHD locus (Figure S2G).”
Cited by
Long non-coding RNAs: new players in cell differentiation and development
Fatica, A., & Bozzoni, I. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3606 · Cited by 2,980
Long Noncoding RNAs: Cellular Address Codes in Development and Disease
Batista, P. J., & Chang, H. Y. (2013) · Cell · doi:10.1016/j.cell.2013.02.012 · Cited by 2,531
LncRNA: A link between RNA and cancer
Yang, G., Lu, X., & Yuan, L. (2014) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2014.08.012 · Cited by 991
Mondal, T., Subhash, S., Vaid, R., Enroth, S., Uday, S., Reinius, B., Mitra, S., Mohammed, A., James, A. R., Hoberg, E., et al. (2015) · Nature Communications · doi:10.1038/ncomms8743 · Cited by 665
Targeting long non-coding RNA to therapeutically upregulate gene expression
Wahlestedt, C. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4018 · Cited by 532
Metadata
- Authors
- Cabianca, D. S., Casa, V., Bodega, B., Xynos, A., Ginelli, E., Tanaka, Y., & Gabellini, D.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2012-05
- Volume
- 149
- Issue
- 4
- Pages
- 819-831
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2125984352
- Cited by
- 392
- References
- 4
- FWCI
- 18.70
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Cabianca, D. S., Casa, V., Bodega, B., Xynos, A., Ginelli, E., Tanaka, Y., & Gabellini, D. (2012). A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy. Cell. https://doi.org/10.1016/j.cell.2012.03.035
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