SOX2, the basic helix-loop-helix transcription factor, is indispensable for maintaining embryonic stem (ES) cell pluripotency. The gene expresses in self-renewing progenitor cells and acts to inhibit neuronal differentiation. SOX2, along with other transcription factors Oct3/4, Klf4, and c-Myc are used to generate induced pluripotent stem cells from mouse fibroblasts by retrovirus mediated introduction. It is expressed throughout the human brain, including the developing hypothalamus, as well as the Rathke pouch, the developing anterior pituitary and the eye. It is necessary for the normal development of the hypothalamo-pituitary and reproductive axes in mice. Mutation of the SOX2 gene in progenitor cells leads to cerebral malformation, severe eye defects, and hypothalamo-pituitary abnormalities.
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