PUBLICATION

Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure

Authors
Sinagoga, K.L., Larimer-Picciani, A.M., George, S.M., Spencer, S.A., Lister, J.A., Gross, J.M.
ID
ZDB-PUB-200617-10
Date
2020
Source
Development (Cambridge, England)   147(21): (Journal)
Registered Authors
Gross, Jeffrey, Lister, James A.
Keywords
Choroid fissure, Coloboma, Mitf, Neural crest, Zebrafish
MeSH Terms
  • Animals
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/metabolism*
  • Choroid/cytology*
  • Choroid/embryology*
  • Coloboma/pathology
  • Embryo, Mammalian/cytology
  • Humans
  • Microphthalmia-Associated Transcription Factor/metabolism*
  • Mutation/genetics
  • Neural Crest/cytology*
  • Neural Crest/metabolism
  • Retinal Pigment Epithelium/embryology
  • Skull/cytology*
  • Zebrafish/embryology*
  • Zebrafish Proteins/metabolism*
PubMed
32541011 Full text @ Development
Abstract
A critical step in eye development is closure of the choroid fissure (CF), a transient structure in the ventral optic cup through which vasculature enters the eye and ganglion cell axons exit. While many factors have been identified that function during CF closure, the molecular and cellular mechanisms mediating this process remain poorly understood. Failure of CF closure results in colobomas. Recently, MITF was shown to be mutated in a subset of human coloboma patients, but how MITF functions during CF closure is unknown. To address this question, zebrafish with mutations in mitfa and tfec, two members of the Mitf-family of transcription factors, were analyzed and their functions during CF closure determined. mitfa;tfec mutants possess severe colobomas and our data demonstrate that Mitf activity is required within cranial neural crest cells (cNCCs) during CF closure. In the absence of Mitf function, cNCC migration and localization in the optic cup are perturbed. These data shed light on the cellular mechanisms underlying colobomas in patients with MITF mutations and identify a novel role for Mitf function in cNCCs during CF closure.
Genes / Markers
Figures
Expression
Phenotype
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Errata and Notes