Holt, James Keith Langford; (2003) An analysis of the role of T-box genes in development of the mammalian retina. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

Exploring how the eye develops is of great value in the understanding and ultimately the treating of human eye disease. Genetic eye disease is a significant cause of congenital blindness and retinal degeneration in man. Studying the molecular basis of eye development also teaches us about basic mechanisms of neural development and patterning. One flourishing area of research in eye development is that of retinal patterning. Patterns/gradients of gene expression across the retina confer positional identity to retinal cells, essential for eye morphogenesis and the guidance of retinal ganglion cell axons into the brain. I have studied patterning of the retina along its dorso-ventral axis, in particular the putative role of T-box transcription factor genes in this process. T-box (Tbx) genes are known to be involved in many developmental events such as heart patterning and the provision of forelimb identity, yet their roles in eye development are not clear. omb-related Tbx gene expression was restricted to the dorsal retina during early mouse and human development and showed lamina-specific patterns at later stages. Embryonic expression of Tbx2 and Tbx5 was disrupted in Pax6-null mice, as was expression of ventral homeobox gene Vax2. Tbx2 and Tbx5 expression was induced by the implantation of BMP4-soaked beads and whole mouse embryo culture. Transgenic mice were generated to investigate the effect of retinal misexpression of Tbx5 in dorso-ventral patterning, eye morphogenesis and retinal stratification. These data provide insight into T-box gene regulation and function in the eye and more generally into the interactions of transcription factors and signalling molecules in the patterning of neural structures.

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