Active demethylation of the Foxp3 locus leads to the generation of stable regulatory T cells within the thymus

J Immunol. 2013 Apr 1;190(7):3180-8. doi: 10.4049/jimmunol.1203473. Epub 2013 Feb 18.

Abstract

Stable expression of Foxp3 in regulatory T cells (Tregs) depends on DNA demethylation at the Treg-specific demethylated region (TSDR), a conserved, CpG-rich region within the Foxp3 locus. The TSDR is selectively demethylated in ex vivo Tregs purified from secondary lymphoid organs, but it is unclear at which stage of Treg development demethylation takes place. In this study, we show that commitment to a stable lineage occurred during early stages of murine thymic Treg development by engraving of lineage-specific epigenetic marks in parallel with establishment of a Treg-specific gene expression profile. TSDR demethylation was achieved through an active mechanism and involved enzymes of the ten-eleven-translocation family and hydroxylation of methylated cytosines, a modification that is implicated as an initiating step of mitosis-independent DNA demethylation pathways and has not yet been observed at specific loci during immune cell differentiation. Together, our results demonstrate that initiating TSDR demethylation during early stages of thymic Treg development commences stabilization of Foxp3 expression and guarantees full functionality and long-term lineage stability of Tregs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation / genetics
  • Cell Differentiation / immunology
  • Cell Lineage / genetics
  • Cell Lineage / immunology
  • CpG Islands
  • Cytosine / chemistry
  • DNA Methylation*
  • Forkhead Transcription Factors / genetics*
  • Gene Expression Regulation
  • Gene Order
  • Male
  • Mice
  • Precursor Cells, T-Lymphoid / cytology
  • Precursor Cells, T-Lymphoid / metabolism
  • T-Lymphocytes, Regulatory / cytology
  • T-Lymphocytes, Regulatory / metabolism*
  • Thymus Gland / immunology
  • Thymus Gland / metabolism*

Substances

  • Forkhead Transcription Factors
  • Foxp3 protein, mouse
  • Cytosine

Associated data

  • GEO/GSE42021