Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma

Hum Mol Genet. 2012 Apr 15;21(8):1848-60. doi: 10.1093/hmg/ddr616. Epub 2012 Jan 6.

Abstract

Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two closely related Frizzled receptors, Fz5 and Fz8, in mouse retinal development. We previously showed that Fz5(-/-) mice exhibit mild coloboma and microphthalmia at ~50% penetrance. Fz8 expression overlaps with Fz5 in the neural retina and optic fissure/disc. Mice lacking Fz8 show minimal eye and retinal defects. The embryos lacking both Fz5 and Fz8 die early in development, but a majority of triallelic Fz5(-/-);Fz8(+/-) mutants survive until birth. The triallelic mutant develops severe retinal coloboma and microphthalmia with full penetrance. At the cellular level, impaired neurogenesis is indicated by increased early-born retinal neurons that result from accelerated cell cycle exit of progenitors. Deficiency of apical retinal neuroepithelium is indicated by altered localization of apical junction markers, such as atypical protein kinase C, RhoA and β-catenin. Hes1 expression, which is critical for retinal progenitor expansion, is down-regulated in the triallelic mutant mouse. Furthermore, blocking Frizzled receptors in cultured retinal explants led to basally shifted divisions of retinal progenitors. Together, our studies suggest a dose-dependent regulation of signaling by Fz5 and Fz8 in optic fissure/disc formation and progenitor expansion.

Publication types

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

MeSH terms

  • Animals
  • Axons / physiology
  • Coloboma / genetics
  • Coloboma / metabolism
  • Down-Regulation
  • Frizzled Receptors / genetics*
  • Frizzled Receptors / physiology*
  • Gene Expression Regulation, Developmental
  • Gliosis / genetics
  • Gliosis / metabolism
  • Mice
  • Mice, Knockout
  • Microphthalmos / genetics
  • Microphthalmos / metabolism
  • Mitosis
  • Mutation
  • Neural Stem Cells / cytology
  • Neural Stem Cells / physiology
  • Neurogenesis
  • Optic Disk / embryology
  • Optic Disk / metabolism
  • Receptors, G-Protein-Coupled / genetics*
  • Receptors, G-Protein-Coupled / physiology*
  • Retina / embryology*
  • Retina / metabolism
  • Retinal Neurons / cytology
  • Retinal Neurons / physiology*
  • Signal Transduction
  • beta Catenin / genetics
  • beta Catenin / metabolism
  • rho GTP-Binding Proteins / genetics
  • rho GTP-Binding Proteins / metabolism
  • rhoA GTP-Binding Protein

Substances

  • Frizzled Receptors
  • Fzd5 protein, mouse
  • Receptors, G-Protein-Coupled
  • beta Catenin
  • frizzled 8 protein, mouse
  • RhoA protein, mouse
  • rho GTP-Binding Proteins
  • rhoA GTP-Binding Protein