PUBLICATION

The tumor suppressor gene retinoblastoma-1 is required for retinotectal development and visual function in zebrafish

Authors
Gyda, M., Wolman, M., Lorent, K., and Granato, M.
ID
ZDB-PUB-121206-46
Date
2012
Source
PLoS Genetics   8(11): e1003106 (Journal)
Registered Authors
Granato, Michael, Gyda, Michael, Lorent, Kristin, Wolman, Marc
Keywords
Retinal ganglion cells, Retina, Embryos, Larvae, Zebrafish, Axons, Optic nerve, Cell cycle and cell division
MeSH Terms
  • Animals
  • Axons/metabolism
  • Axons/pathology
  • Gene Expression Regulation, Developmental
  • Humans
  • Mutation
  • Retina*/cytology
  • Retina*/growth & development
  • Retina*/metabolism
  • Retinal Ganglion Cells/cytology
  • Retinal Ganglion Cells/metabolism
  • Retinal Ganglion Cells/physiology
  • Retinoblastoma/genetics*
  • Retinoblastoma/pathology
  • Retinoblastoma Protein/genetics*
  • Retinoblastoma Protein/metabolism
  • Superior Colliculi/cytology
  • Superior Colliculi/metabolism
  • Zebrafish*
PubMed
23209449 Full text @ PLoS Genet.
Abstract

Mutations in the retinoblastoma tumor suppressor gene (rb1) cause both sporadic and familial forms of childhood retinoblastoma. Despite its clinical relevance, the roles of rb1 during normal retinotectal development and function are not well understood. We have identified mutations in the zebrafish space cadet locus that lead to a premature truncation of the rb1 gene, identical to known mutations in sporadic and familial forms of retinoblastoma. In wild-type embryos, axons of early born retinal ganglion cells (RGC) pioneer the retinotectal tract to guide later born RGC axons. In rb1 deficient embryos, these early born RGCs show a delay in cell cycle exit, causing a transient deficit of differentiated RGCs. As a result, later born mutant RGC axons initially fail to exit the retina, resulting in optic nerve hypoplasia. A significant fraction of mutant RGC axons eventually exit the retina, but then frequently project to the incorrect optic tectum. Although rb1 mutants eventually establish basic retinotectal connectivity, behavioral analysis reveals that mutants exhibit deficits in distinct, visually guided behaviors. Thus, our analysis of zebrafish rb1 mutants reveals a previously unknown yet critical role for rb1 during retinotectal tract development and visual function.

Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping