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PMID: 15057935 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review

Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases.

Cvekl A, Tamm ER

Abstract

During development of the anterior eye segment, cells that originate from the surface epithelium or the neuroepithelium need to interact with mesenchymal cells, which predominantly originate from the neural crest. Failures of proper interaction result in a complex of developmental disorders such Peters' anomaly, Axenfeld-Rieger's syndrome or aniridia. Here we review the role of transcription factors that have been identified to be involved in the coordination of anterior eye development. Among these factors is PAX6, which is active in both epithelial and mesenchymal cells during ocular development, albeit at different doses and times. We propose that PAX6 is a key element that synchronizes the complex interaction of cell types of different origin, which are all needed for proper morphogenesis of the anterior eye. We discuss several molecular mechanisms that might explain the effects of haploinsufficiency of PAX6 and other transcription factors, and the broad variation of the resulting phenotypes.

MeSH Terms
Animals Anterior Eye Segment/anatomy & histology,embryology Cell Differentiation Eye/anatomy & histology,embryology Eye Diseases/genetics Eye Proteins Homeodomain Proteins/physiology Humans Mesoderm/cytology Mice Models, Biological Ocular Physiological Phenomena PAX6 Transcription Factor Paired Box Transcription Factors Phenotype Repressor Proteins Signal Transduction Syndrome Time Factors Transcription Factors/metabolism
Chemicals
Eye Proteins Homeodomain Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Pax6 protein, mouse Repressor Proteins Transcription Factors
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Cvekl Ales
The Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, Bronx, NY, USA. [email protected]
Tamm Ernst R
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Article Info
Journal
BioEssays : news and reviews in molecular, cellular and developmental biology
Abbr.
Bioessays
ISSN
0265-9247
Published
2004-04-00
Pages
374-86
Language
English
Region
United States
NLM ID
8510851
PMCID
PMC2094210
Subset
IM
Grants
NEI NIH HHS · R01 EY012200 · United States
NEI NIH HHS · R01 EY014237-01A1 · United States
NEI NIH HHS · EY12200 · United States
NEI NIH HHS · R01 EY014237 · United States
NEI NIH HHS · R01 EY012200-04 · United States
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