Rewiring of SINE-MIR enhancer topology and Esrrb modulation in expanded and naive pluripotency

Genome Biol. 2025 Apr 28;26(1):107. doi: 10.1186/s13059-025-03577-8.

Abstract

Background: The interplay between 3D genomic structure and transposable elements (TE) in regulating cell state-specific gene expression program is largely unknown. Here, we explore the utilization of TE-derived enhancers in naïve and expanded pluripotent states by integrative analysis of genome-wide Hi-C-defined enhancer interactions, H3K27ac HiChIP profiling and CRISPR-guided TE proteomics landscape.

Results: We find that short interspersed nuclear elements (SINEs) are the more involved TEs in the active chromatin and 3D genome architecture. In particular, mammalian-wide interspersed repeat (MIR), a SINE family member, is highly associated with naïve-specific genomic interactions compared to the expanded state. Primarily, in the naïve pluripotent state, MIR enhancer is co-opted by ESRRB for naïve-specific gene expression program. This ESRRB and MIR enhancer interaction is crucial for the formation of loops that build a network of enhancers and super-enhancers regulating pluripotency genes. We demonstrate that loss of a ESRRB-bound MIR enhancer impairs self-renewal. We also find that MIR is co-bound by structural protein complex, ESRRB-YY1, in the naïve pluripotent state.

Conclusions: Altogether, our study highlights the topological regulation of ESRRB on MIR in the naïve potency state.

Keywords: 3D genome; Mouse embryonic stem cells; Pluripotency; Transposable element.

MeSH terms

  • Animals
  • Enhancer Elements, Genetic*
  • Humans
  • Mice
  • MicroRNAs* / genetics
  • Pluripotent Stem Cells* / cytology
  • Pluripotent Stem Cells* / metabolism
  • Receptors, Estrogen
  • Short Interspersed Nucleotide Elements*

Substances

  • MicroRNAs
  • Esrrb protein, mouse
  • Receptors, Estrogen