Abstract
The anterior segment of the vertebrate eye is a complex arrangement of interdependent tissues of different embryonic origins. Despite its critical role in normal vision, relatively little is currently known about the development of the anterior segment and its molecular determinants. All three members of the PITX homeobox-containing transcription factor gene family were found to be expressed in the anterior segment structures during embryonic development. Two of these genes, PITX2 and PITX3, were shown to be responsible for a spectrum of developmental anterior segment phenotypes associated with glaucoma, corneal opacities and cataracts in humans and mice. These findings demonstrate a requirement of PITX genes for normal development of the anterior segment of the eye and provide tools to study the molecular control of development of these structures.
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Semina, E.V. (2005). PITX Genes and Ocular Development. In: The Molecular Mechanisms of Axenfeld-Rieger Syndrome. Medical Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-28672-1_9
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DOI: https://doi.org/10.1007/0-387-28672-1_9
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-387-26222-2
Online ISBN: 978-0-387-28672-3
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