Elucidating the Role of SOX2 in the Developing CNS: A Morphological Characterization (2011)

Undergraduate: Connie Wang

Faculty Advisor: Larysa Pevny
Department: Biology

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Sox2 belongs to a family of high mobility group (HMG) containing transcription factors expressed in the developing nervous system. In both humans and mice, mutations in Sox2 have been consistently linked to ocular malformations such as anopthalmia and micropthalmia. Specifically in mice, Sox2 hypomorphic mutants have phenotypic abnomalities of the ventral midline tissue during embryogenesis. This ventral midline tissue develops in close proximity to hypothalamic precursors and hypothalamic hamartomas have been observed clinically in humans. Our goal is thus to investigate whether Sox2 is necessary for proper central nervous system development by examining hypothalamic defects in a mouse model. We have analyzed molecular markers for the hypothalamus and conducted in situ hybridization on a series of hypomorphic embryos throughout development. Aberrant hypothalamic patterning was identified at various ages and along multiple axes in the brain, suggesting that Sox2 is necessary in maintaining proper hypothalamic tissue organization. By continuing to examine series of embryos at different stages in embryogenesis, we can further study how Sox2 is regulating nervous system development in hopes of building a patterning model of hypothalamic development in Sox2 deficient organisms.