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[Preprint]. 2026 Jan 14:2025.12.03.692152. [Version 3] doi: 10.64898/2025.12.03.692152

Dot1L licenses DNA demethylation to establish regulatory T cell identity

James J Cameron, Tyler R Colson, Xudong Li
PMCID: PMC12712901  PMID: 41427413

Abstract

Foxp3 + regulatory T (T reg ) cells rely on DNA demethylation to establish and maintain the gene expression program that defines their identity and suppressive function. Although sustained transcription of Treg-specific genes is known to drive this demethylation, the precise mechanism has remained unclear. Here, we show that Dot1L-catalyzed methylation of histone H3 at lysine 79 (H3K79me) is essential for Treg-specific DNA demethylation in both thymic and induced Treg lineages. H3K79me promotes chromatin activation and recruits TET family DNA demethylases to key regulatory loci. Treg-restricted deletion of Dot1L disrupts locus-specific DNA demethylation, diminishes expression of core Treg genes, and precipitates a fatal, early-onset autoimmune syndrome. Conversely, pharmacologic enhancement of TET activity during differentiation rescues DNA demethylation, restores Treg-gene expression, and reinstates suppressive function even in the presence of Dot1L inhibition. Together, these findings identify a critical epigenetic axis—Dot1L-mediated H3K79 methylation driving TET-dependent DNA demethylation—that safeguards Treg cellular identity, function, and immune homeostasis.

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