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Disease, development, evolution and environment: insights from eyes

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If you have a question about this talk, please contact Dr Madan Babu Mohan.

This is a MRC-LMB Lecture

Starting from the identification of three genes, PAX6 , SOX2 and OTX2 , implicated in human ocular malformations, we have explored the many different ways in which these major developmental regulator genes play their role in normal development and how the process goes wrong as a result of different mutations. In addition to point mutations we also found chromosomal changes outside the transcribed gene which triggered our interest in long range cis-regulatory function. Exploring the mechanisms of spatiotemporal expression and dosage control has alerted us to the role of transcription factor interactions and networks. Alterations in regulatory element function are clearly also implicated in evolutionary change and we have studied these aspects through the use of different model systems. Returning to patient phenotypes we were struck by the high incidence of unilaterality and also of non-Mendelian familial segregation patterns in anophthalmia and microphthalmia. Using zebrafish as the model system we have explored some of the mechanisms underlying phenotypic variation, noting that the same processes thought to play a role in evolutionary capacitation may also be implicated in mediating gene-environment interaction and modulating disease outcome.

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