SOX2


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SOX2

A gene on chromosome 3q26.3-q27 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX2 is required for stem-cell maintenance in the CNS and regulates gene expression in the stomach.

Molecular pathology
SOX2 mutations are associated with optic nerve hypoplasia and syndromic microphthalmia.
References in periodicals archive ?
Undifferentiated embryonic stem cell (ESC) identity is maintained by transcription factors (TFs) of the pluripotency gene regulatory network (PGRN) centred on the TFs Oct4, Sox2 and Nanog.
What the researchers found is that the transcription factor of a DNA binding protein called sex determining region Y box 2, or Sox2 for short, which normally maintains cell self-renewal, actually releases the floodgates in the Hippo pathway in osteosarcomas and other cancers, permitting the growth of highly aggressive, tumor-forming stem cells.
In recent years, reprogramming genes such as Oct3/4, Sox2, Klf4 and cMyc have been widely studied for tissue regeneration.
At the fourth day after hypoxic precondition treatments cells were analysed for the expression of surface marker CD90 and CD34 by flowcytometry, and for transcription factors OCT4 and SOX2 by immunocytochemistry and immunofluorescence microscopy.
After conducting a series of studies, the researchers reported that cells localized at the base of the hair follicle (dermalpapilla) expressed the stem cell marker Sox2 and exhibited the property to grow in colonies in the form of spheres, both characteristics of dermal stem cells.
The second group included regulators of pluripotency pathways that were predicted to be activated, such as SOX2 (SRY-box containing gene 2), NANOG, KLF4 (Kruppellike factor 4), and OCT4.
Even more intriguingly, they highlight that RMST controls SOX2 by directly interacting with the protein.
Bass et al (78) showed that SOX2 is an amplified lineage-survival oncogene in lung squamous cell carcinoma.
multipotency) and maintains the cells' stem-cell-like characteristics by directly controlling the regulatory molecules OCT4 and SOX2 (Yu et al.
This was achieved in ground-breaking studies in 2006/7 by Takahashi and Yamanaka, who showed that the ectopic expression of four key embryonic regulatory genes (Oct3/4, Sox2, Klf4 and c-Myc) reactivates endogenous pluripotency genes in mouse and human fibroblasts.
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.