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. 2022 May 3;14:750629. doi: 10.3389/fnagi.2022.750629

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Copyright © 2022 Barbé and Finkbeiner.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Methylation of the repeat locus is associated with epigenetic deregulation of the nucleotide repeat region with a loss in CTCF binding, loss of TAD boundaries, chromatin condensation, and gene down regulation. Increased methylation is typically found near the repeat region in CG-rich areas called CpG islands. These differentially methylated regions include CTCF binding sites, and methylation inhibits binding of the CTCF protein. With a loss of CTCF binding, TAD boundaries are also lost and chromatin folding is altered to a more condensed formation. This leads to down regulation of genes with promoters and enhancers at or near the repeat region in several repeat diseases.