Sox2- Evf2 lncRNA-mediated mechanisms of chromosome topological control in developing forebrain

Development. 2021 Mar 15;148(6):dev197202. doi: 10.1242/dev.197202.

Abstract

The Evf2 long non-coding RNA directs Dlx5/6 ultraconserved enhancer(UCE)-intrachromosomal interactions, regulating genes across a 27 Mb region on chromosome 6 in mouse developing forebrain. Here, we show that Evf2 long-range gene repression occurs through multi-step mechanisms involving the transcription factor Sox2. Evf2 directly interacts with Sox2, antagonizing Sox2 activation of Dlx5/6UCE, and recruits Sox2 to the Dlx5/6eii shadow enhancer and key Dlx5/6UCE interaction sites. Sox2 directly interacts with Dlx1 and Smarca4, as part of the Evf2 ribonucleoprotein complex, forming spherical subnuclear domains (protein pools, PPs). Evf2 targets Sox2 PPs to one long-range repressed target gene (Rbm28), at the expense of another (Akr1b8). Evf2 and Sox2 shift Dlx5/6UCE interactions towards Rbm28, linking Evf2/Sox2 co-regulated topological control and gene repression. We propose a model that distinguishes Evf2 gene repression mechanisms at Rbm28 (Dlx5/6UCE position) and Akr1b8 (limited Sox2 availability). Genome-wide control of RNPs (Sox2, Dlx and Smarca4) shows that co-recruitment influences Sox2 DNA binding. Together, these data suggest that Evf2 organizes a Sox2 PP subnuclear domain and, through Sox2-RNP sequestration and recruitment, regulates chromosome 6 long-range UCE targeting and activity with genome-wide consequences.

Keywords: Architectural proteins; Chromosome 3D structure; Enhancers; Epigenetics; Forebrain development; Gene repression; Ribonucleoprotein complex; Transcription factor binding; lncRNA.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Chromosomes, Mammalian / genetics*
  • DNA Helicases / genetics
  • DNA Helicases / metabolism
  • Enhancer Elements, Genetic / genetics
  • Fluorescent Antibody Technique / methods
  • Gene Expression Regulation, Developmental*
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • In Situ Hybridization, Fluorescence / methods
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Prosencephalon / embryology
  • Prosencephalon / metabolism*
  • Protein Binding
  • RNA, Long Noncoding / genetics*
  • RNA, Long Noncoding / metabolism
  • Ribonucleoproteins / genetics
  • Ribonucleoproteins / metabolism
  • SOXB1 Transcription Factors / genetics*
  • SOXB1 Transcription Factors / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Distal-less homeobox proteins
  • Dlx5 protein, mouse
  • Homeodomain Proteins
  • Nuclear Proteins
  • RNA, Long Noncoding
  • Ribonucleoproteins
  • SOXB1 Transcription Factors
  • Transcription Factors
  • Smarca4 protein, mouse
  • DNA Helicases