The Role of SOX11 in Vertabrate Ocular Development

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The formation ofthe visual system during embryonic development involves complex morphogenetic interactions that result in lens and retina development and the formation of a spherical eye. Disruptions· in this process are associated with developmental abnormalities such as anterior segment dysgenesis, microphthalmia, anophthalmia, and colobomata, and are a significant cause ofpediatric blindness. The genetic cause ofmost human ocular malformations remains unknown. Therefore, identifying additional members ofthe gene regulatory networks in the developing eye will provide a better understanding of developmental ocular pathology. The transcription factor Soxll has recently been implicated in the regulation ofvertebrate eye development, and our preliminary data strongly supports a role for Sod I in both lens formation and photoreceptor differentiation. We therefore hypothesize that Sox}} expression is required in the anterior eye for proper development ofthe lens and in the developing neural retina for the differentiation ofrodphotoreceptors. Three Specific Aims are proposed to test this hypothesis: 1. Place sox}} within the context ofknown genetic pathways that regulate lens and photoreceptor development. 2. Determine the effects ofsox11 mis-expression on cell differentiation, cell survival, and cell cycle progression in the lens and retina. 3. Determine whether sox11 is required autonomously or non-cell autonomously during ocular development. The results of our research will place sox11 within the hierarchy ofregulatory genes that pattern the vertebrate eye, provide a better understanding ofthe genetic basis for ocular development, and will reveal underlying principles relevant to understanding the pathogenesis ofcongenital ocular malformations.
Effective start/end date7/1/11 → 6/30/12


  • Knights Templar Eye Foundation Inc: $36,060.00


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