Nucleome Dynamics during Retinal Development

Neuron. 2019 Nov 6;104(3):512-528.e11. doi: 10.1016/j.neuron.2019.08.002. Epub 2019 Sep 4.

Abstract

More than 8,000 genes are turned on or off as progenitor cells produce the 7 classes of retinal cell types during development. Thousands of enhancers are also active in the developing retinae, many having features of cell- and developmental stage-specific activity. We studied dynamic changes in the 3D chromatin landscape important for precisely orchestrated changes in gene expression during retinal development by ultra-deep in situ Hi-C analysis on murine retinae. We identified developmental-stage-specific changes in chromatin compartments and enhancer-promoter interactions. We developed a machine learning-based algorithm to map euchromatin and heterochromatin domains genome-wide and overlaid it with chromatin compartments identified by Hi-C. Single-cell ATAC-seq and RNA-seq were integrated with our Hi-C and previous ChIP-seq data to identify cell- and developmental-stage-specific super-enhancers (SEs). We identified a bipolar neuron-specific core regulatory circuit SE upstream of Vsx2, whose deletion in mice led to the loss of bipolar neurons.

Keywords: Hi-C; Vsx2; bipolar neuron; core regulatory circuit; euchromatin; heterochromatin; machine learning; nucleome; retina; super-enhancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromatin / metabolism
  • Chromatin Immunoprecipitation Sequencing
  • Enhancer Elements, Genetic
  • Euchromatin / metabolism*
  • Gene Expression Regulation, Developmental / physiology*
  • Gene Regulatory Networks
  • Heterochromatin / metabolism*
  • Homeodomain Proteins / genetics
  • Lamin B Receptor
  • Machine Learning
  • Mice
  • Nuclear Lamina / metabolism
  • Promoter Regions, Genetic
  • RNA-Seq
  • Receptors, Cytoplasmic and Nuclear / genetics
  • Retina / cytology
  • Retina / embryology*
  • Retina / metabolism
  • Retina / ultrastructure
  • Retinal Bipolar Cells / cytology
  • Retinal Bipolar Cells / metabolism*
  • Retinal Rod Photoreceptor Cells / cytology
  • Retinal Rod Photoreceptor Cells / metabolism
  • Single-Cell Analysis
  • Transcription Factors / genetics

Substances

  • Chromatin
  • Euchromatin
  • Heterochromatin
  • Homeodomain Proteins
  • Receptors, Cytoplasmic and Nuclear
  • Transcription Factors
  • Vsx2 protein, mouse