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Forkhead Genes: Their Role and Impact on Ocular Developmental Diseases

[ Vol. 5 , Issue. 3 ]


Yahya Tamimi, Tara Murphy and Michael Walter   Pages 207 - 213 ( 7 )


Forkhead box (FOX) proteins are modulator proteins that belong to a large transcription factor family, characterized by specific functions such as DNA binding, trans-activation or trans-repression. FOX DNA-binding domains, composed of evolutionarily well-conserved 100 amino acids essential for DNA recognition, a prerequisite for transcription initiation. In eukaryotic cells, FOX proteins play essential roles in a wide range of cellular and developmental processes. Recent experiments indicate that several FOX genes are mutated in ocular diseases. Ocular tissues including the lashes, eyelids, cornea, iris and lens, are affected as a result of mutations in FOXC1, FOXC2, FOXE3, FOXL2 and FOXN4. Moreover, alterations in Foxg1 and Foxd1, new emerging FOX genes, can compromise a proper projection of visual information to the brain. In addition to their role in different organ development, FOX proteins are also involved in cell cycle regulation and in signal transduction by interacting with key molecules in different pathways. This review will focus on the FOX genes directly related to the developmental genetic disorders of the eye.


forkhead genes, ocular developmental diseases, forkhead box, ocular diseases


Department of Ophthalmology and Department of Medical Genetics , University of Alberta, Edmonton, Alberta, Canada T6G 2H7.

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