title: Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases.
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.
authors.affiliation: The Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, Bronx, NY, USA. cvekl@aecom.yu.edu
authors.forename: Ales
authors.initials: A
authors.lastname: Cvekl
authors.forename: Ernst R
authors.initials: ER
authors.lastname: Tamm
mesh_terms: D000818:Animals; D000869:Anterior Eye Segment / Q000033:anatomy & histology* / Q000196:embryology; D002454:Cell Differentiation; D005123:Eye / Q000033:anatomy & histology* / Q000196:embryology; D005128:Eye Diseases / Q000235:genetics; D005136:Eye Proteins; D018398:Homeodomain Proteins / Q000502:physiology; D006801:Humans; D008648:Mesoderm / Q000166:cytology*; D051379:Mice; D008954:Models, Biological; D009799:Ocular Physiological Phenomena; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010641:Phenotype; D012097:Repressor Proteins; D015398:Signal Transduction; D013577:Syndrome; D013997:Time Factors; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins; D014157:Transcription Factors