Journal
JOURNAL OF NEUROSCIENCE RESEARCH
Volume 97, Issue 1, Pages 7-15Publisher
WILEY
DOI: 10.1002/jnr.24245
Keywords
animal models; anterior segment dysgenesis; development; genetics; neural crest; ocular disease
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Funding
- National Eye Institute/National Institutes of Health [EY025789]
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Development of the eye is closely associated with neural crest cell migration and specification. Eye development is extremely complex, as it requires the working of a combination of local factors, receptors, inductors, and signaling interactions between tissues such as the optic cup and periocular mesenchyme (POM). The POM is comprised of neural crest-derived mesenchymal progenitor cells that give rise to numerous important ocular structures including those tissues that form the optic cup and anterior segment of the eye. A number of genes are involved in the migration and specification of the POM such as PITX2, PITX3, FOXC1, FOXE3, PAX6, LMX1B, GPR48, TFAP2A, and TFAP2B. In this review, we will discuss the relevance of these genes in the development of the POM and how mutations and defects result in rare ocular diseases.
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