The homeobox gene Otx2 in development and disease.

Department of Ophthalmology, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Avenue Jean Joseph Crocq 15, 1020 Brussels, Belgium. francis.beby@huderf.be

Experimental eye research 2013 Jun

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The Otx2 gene encodes a tran scription factor essential for the normal development of brain, cerebellum, pineal gland, and eye. In the retina, Otx2 has essential functions from early embryogenesis to adulthood. As soon as the optic vesicle is formed, the gene is required for retinal pigment epithelium specification. Otx2 is also a key regulator of photoreceptor genesis and differentiation, and is required after birth for bipolar cells terminal maturation. Otx2 expression is maintained in the differentiated retina wherein the gene is critical for the outer retina maintenance. In the visual cortex, the gene modulates the neuronal plasticity through a paracrine mechanism. OTX2 heterozygous mutations in humans have been linked to severe ocular malformations associated with brain abnormalities and pituitary dysfunction. Recent studies have also established the OTX2 gene as an oncogene for medulloblastoma, a malignant brain tumour originating in the cerebellum. Copyright © 2013 Elsevier Ltd. All rights reserved.