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An Explant Assay for Assessing Cellular Behavior of the Cranial Mesenchyme
Published on: January 20, 2013
Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure
Katie L Sinagoga1, Alessandra M Larimer-Picciani1, Stephanie M George1
1Departments of Ophthalmology and Developmental Biology, Louis J. Fox Center for Vision Restoration, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Abstract:
A crucial step in eye development is the 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. Although 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 individuals with colobomas, but how MITF functions during CF closure is unknown. To address this issue, 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 individuals with MITF mutations and identify a novel role for Mitf function in cNCCs during CF closure.
Insights
Mitf transcription factors are essential for proper eye development and choroid fissure closure in zebrafish. Mutations in Mitf disrupt cranial neural crest cell migration, leading to colobomas, a congenital eye defect.
Area of Science:
- Developmental biology
- Ophthalmology
- Genetics
Background:
- Choroid fissure (CF) closure is vital for eye development, allowing vasculature entry and axon exit.
- Failure of CF closure leads to colobomas, and mutations in MITF are linked to this condition.
- The precise role of MITF in CF closure remains unclear.
Purpose of the Study:
- To investigate the function of Mitf transcription factors in choroid fissure closure.
- To elucidate the cellular mechanisms underlying colobomas in MITF-mutated individuals.
Main Methods:
- Analysis of zebrafish with mutations in mitfa and tfec, members of the Mitf family.
- Assessment of cranial neural crest cell (cNCC) migration and localization during CF closure in mutant zebrafish.
Main Results:
- Zebrafish lacking functional mitfa and tfec exhibited severe colobomas.
- Mitf activity was found to be crucial within cNCCs for successful CF closure.
- Absence of Mitf function resulted in perturbed cNCC migration and optic cup localization.
Conclusions:
- Mitf transcription factors play a novel and essential role in cranial neural crest cell function during choroid fissure closure.
- These findings provide insights into the cellular basis of colobomas associated with MITF mutations.
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