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Whitney Heavner Graduate Student Curriculum in Genetics and Molecular Biology wheavner@email.unc.edu |
Humans with mutations in the gene encoding the SRY-box transcription factor SOX2 exhibit eye abnormalities, including microphthalmia (small eye) and anophthalmia (no eye). We and others have shown that mice with disrupted SOX2 function have similar eye defects. Therefore, we can use the mouse as a model to study how the loss of SOX2 in the developing optic cup causes improper eye development. A potential molecular player in this phenomenon is PAX6, a highly conserved master regulator of eye development. Preliminarily data from our lab suggest that Sox2 and Pax6 expression in the optic cup are tightly coordinated to ensure proper patterning of the eye. I am currently using mouse genetics to analyze the relationship between SOX2 and PAX6 in optic cup morphogenesis. Through a range of approaches, including microscopy (fluorescence, confocal and electron), EMSA, qPCR, circular dichroism, FACS, and primary culture of retinal explants, I hope to understand the genetic and molecular relationship between SOX2 and PAX6 in patterning the optic cup.
