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Importance of Gene in Eye Development

According to the researchers at the University of North Carolina, Chapel Hill it is very much essential for the expression of the neural stem cell gene for the normal development of the eye. // Neural stem cells are totipotent cells and can differentiate into any type of cell of the nervous system. If the gene is expressed properly then it results in the formation of neurons and optic nerves in the adult eye. Led by Dr. Larysa H. Pevny, an assistant professor of genetics in the UNC School of Medicine, researchers discovered that expression levels of a particular neural stem cell gene, SOX2, are a critical factor that regulates the differentiation of neural stem/progenitor cells in the eye.

Their work appears in the current edition of the journal Genes & Development. The SOX2 gene is a member of class of master genes that encode for transcription factors. Transcription factors are proteins that bind to DNA and regulate the expression of other genes. The investigators discovered that, in mice, disruption of the SOX2 gene in neural retinal stem cells leads to a kind of abnormal development of the eye called microphtalmia, or small eye. Approximately 10 percent of all human cases of microphtalmia result from mutations in the SOX2 gene. Moreover, this study indicates that the degree to which SOX2 gene is disrupted dictates the severity of this condition.

‘We found that even a reduction in normal SOX2 levels causes problems in these mice and this mimics the problems seen in humans,’ said Pevny. The scientist pointed out that the problem in eye development in these mice results from loss of SOX2 mediated maintenance of the neural progenitor cell population in the eye. According to Pevny, the study demonstrates that normal development of the eye is contingent upon having the right amount of SOX2, expressed at the right time and place.

‘Too little SOX2 expression results in the neural stem cell pool to aberrantly differentiate into neurons durin
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