In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

Hum Mol Genet. 2006 Sep 1;15(17):2588-602. doi: 10.1093/hmg/ddl185. Epub 2006 Jul 25.

Abstract

Rod and cone photoreceptors in mammalian retina are generated from common pool(s) of neuroepithelial progenitors. NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor differentiation. Mutations in NR2E3, a rod-specific orphan nuclear receptor, lead to loss of rods, increased density of S-cones and supernormal S-cone-mediated vision in humans. To better understand its in vivo function, NR2E3 was expressed ectopically in the Nrl-/- retina, where post-mitotic precursors fated to be rods develop into functional S-cones similar to the human NR2E3 disease. Expression of NR2E3 in the Nrl-/- retina completely suppressed cone differentiation and resulted in morphologically rod-like photoreceptors, which were however not functional. Gene profiling of FACS-purified photoreceptors confirmed the role of NR2E3 as a strong suppressor of cone genes but an activator of only a subset of rod genes (including rhodopsin) in vivo. Ectopic expression of NR2E3 in cone precursors and differentiating S-cones of wild-type retina also generated rod-like cells. The dual regulatory function of NR2E3 was not dependent upon the presence of NRL and/or CRX, but on the timing and level of its expression. Our studies reveal a critical role of NR2E3 in establishing functional specificity of NRL-expressing photoreceptor precursors during retinal neurogenesis.

Publication types

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

MeSH terms

  • Animals
  • Cell Differentiation
  • Flow Cytometry
  • Gene Expression Regulation
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology
  • Mice
  • Mice, Transgenic
  • Models, Biological
  • Nucleic Acid Precursors*
  • Orphan Nuclear Receptors
  • Promoter Regions, Genetic
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Receptors, Cytoplasmic and Nuclear / physiology
  • Retina / cytology
  • Retina / metabolism*
  • Retinal Cone Photoreceptor Cells / metabolism
  • Retinal Cone Photoreceptor Cells / physiology*
  • Retinal Rod Photoreceptor Cells / metabolism
  • Retinal Rod Photoreceptor Cells / physiology*
  • Trans-Activators / genetics
  • Trans-Activators / physiology
  • Transcription Factors / genetics*
  • Transcription Factors / physiology
  • Vision, Ocular

Substances

  • Homeodomain Proteins
  • NR2E3 protein, human
  • Nucleic Acid Precursors
  • Orphan Nuclear Receptors
  • Receptors, Cytoplasmic and Nuclear
  • Trans-Activators
  • Transcription Factors
  • cone rod homeobox protein