A triplet repeat expansion in Arabidopsis induces gene silencing that results in a severe growth defect. We show that an interplay between a SUMO protease and histone readers of active and inactive marks is required for this gene silencing, which highlights the importance of post-translational modifiers in chromatin remodelling.
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References
Malik, I., Kelley, C. P., Wang, E. T. & Todd, P. K. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nat. Rev. Mol. Cell Biol. 22, 589–607 (2021). A review of human genetic diseases caused by repeat expansions and their underlying mechanisms.
Sureshkumar, S. et al. A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana. Science 323, 1060–1063 (2009). This article described a nonhuman genetic defect caused by a repeat expansion.
Eimer, H. et al. RNA-dependent epigenetic silencing directs transcriptional downregulation caused by intronic repeat expansions. Cell 174, 1095–1105 (2018). This paper reports the discovery of 24-nt siRNAs and the RdDM pathway in epigenetic silencing by expanded repeats.
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This is a summary of: Sureshkumar, S. et al. SUMO protease FUG1, histone reader AL3 and chromodomain protein LHP1 are integral to repeat expansion-induced gene silencing in Arabidopsis thaliana. Nat. Plants https://doi.org/10.1038/s41477-024-01672-5 (2024).
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Deciphering the mechanisms of gene silencing induced by triplet-repeat expansions. Nat. Plants (2024). https://doi.org/10.1038/s41477-024-01673-4
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DOI: https://doi.org/10.1038/s41477-024-01673-4