Investigating cone photoreceptor development using patient-derived NRL null retinal organoids

Commun Biol. 2020 Feb 21;3(1):82. doi: 10.1038/s42003-020-0808-5.

Abstract

Photoreceptor loss is a leading cause of blindness, but mechanisms underlying photoreceptor degeneration are not well understood. Treatment strategies would benefit from improved understanding of gene-expression patterns directing photoreceptor development, as many genes are implicated in both development and degeneration. Neural retina leucine zipper (NRL) is critical for rod photoreceptor genesis and degeneration, with NRL mutations known to cause enhanced S-cone syndrome and retinitis pigmentosa. While murine Nrl loss has been characterized, studies of human NRL can identify important insights for human retinal development and disease. We utilized iPSC organoid models of retinal development to molecularly define developmental alterations in a human model of NRL loss. Consistent with the function of NRL in rod fate specification, human retinal organoids lacking NRL develop S-opsin dominant photoreceptor populations. We report generation of two distinct S-opsin expressing populations in NRL null retinal organoids and identify MEF2C as a candidate regulator of cone development.

Publication types

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

MeSH terms

  • Basic-Leucine Zipper Transcription Factors / deficiency
  • Basic-Leucine Zipper Transcription Factors / genetics*
  • Case-Control Studies
  • Cell Differentiation / genetics
  • Cells, Cultured
  • Cellular Reprogramming / physiology
  • Eye Diseases, Hereditary / genetics
  • Eye Diseases, Hereditary / pathology
  • Eye Proteins / genetics*
  • Fetus / pathology
  • Gene Expression Profiling
  • Humans
  • Induced Pluripotent Stem Cells / physiology*
  • Nerve Regeneration / genetics
  • Neurogenesis / genetics
  • Organoids / pathology*
  • Organoids / physiology
  • Primary Cell Culture / methods
  • Retina / pathology*
  • Retina / physiology
  • Retinal Cone Photoreceptor Cells / physiology*
  • Retinal Degeneration / genetics
  • Retinal Degeneration / pathology
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / pathology
  • Transcriptome
  • Vision Disorders / genetics
  • Vision Disorders / pathology

Substances

  • Basic-Leucine Zipper Transcription Factors
  • Eye Proteins
  • NRL protein, human

Supplementary concepts

  • Enhanced S-Cone Syndrome