Cis-regulatory dissection of cone development reveals a broad role for Otx2 and Oc transcription factors

Development. 2021 May 1;148(9):dev198549. doi: 10.1242/dev.198549. Epub 2021 Apr 30.

Abstract

The vertebrate retina is generated by retinal progenitor cells (RPCs), which produce >100 cell types. Although some RPCs produce many cell types, other RPCs produce restricted types of daughter cells, such as a cone photoreceptor and a horizontal cell (HC). We used genome-wide assays of chromatin structure to compare the profiles of a restricted cone/HC RPC and those of other RPCs in chicks. These data nominated regions of regulatory activity, which were tested in tissue, leading to the identification of many cis-regulatory modules (CRMs) active in cone/HC RPCs and developing cones. Two transcription factors, Otx2 and Oc1, were found to bind to many of these CRMs, including those near genes important for cone development and function, and their binding sites were required for activity. We also found that Otx2 has a predicted autoregulatory CRM. These results suggest that Otx2, Oc1 and possibly other Onecut proteins have a broad role in coordinating cone development and function. The many newly discovered CRMs for cones are potentially useful reagents for gene therapy of cone diseases.

Keywords: Cis-regulatory module; CRM; Chick; Chromatin; Cone; Enhancer; GRN; Gene regulatory network; Horizontal cell; Onecut; Otx2; Photoreceptor; Retina.

Publication types

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

MeSH terms

  • Animals
  • Binding Sites
  • Chickens
  • Chromatin
  • Dissection*
  • Gene Expression Regulation, Developmental
  • Gene Regulatory Networks
  • Hepatocyte Nuclear Factor 6 / genetics
  • Hepatocyte Nuclear Factor 6 / metabolism*
  • Otx Transcription Factors / genetics
  • Otx Transcription Factors / metabolism*
  • Retina / growth & development*
  • Retina / metabolism
  • Retinal Cone Photoreceptor Cells / metabolism*
  • Stem Cells
  • Transcription Factors / metabolism*

Substances

  • Chromatin
  • Hepatocyte Nuclear Factor 6
  • Onecut1 protein, mouse
  • Otx Transcription Factors
  • Otx2 protein, mouse
  • Transcription Factors