After the found of sry(sex determining Y gene) on Y chromosome, sox family was discovered and sox2 being one of its members. Sox2 locates on the q arm of chromosome3 (26.3-27) and encodes a protein of 317 amino acids. Along with Oct4 and Nanog, these three translation factors are reckoned as key factors in maintaining properties of embryonic stem cells (ESCs). In this network, they work together while each factor can also combine its own promoter . Sox2 functions cooperatively with Oct3/4 to orchestrate other genes' transcriptions, although there is another research indicates that sox2 regulates the levels of oct4 and may not be the only member of Sox family that affect Oct-Sox enhancer of ESCs, still it is clear that small changes in sox2 can trigger differentiations of ESCs therefore cause various types of disease. In this assignment, according to the properties of sox2 and incidences, diseases linked with it are illustrated from cancer to eye deformities.(neuro)
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Sox2 is known as a key factor in both central nervous system and peripheral nervous system through regulating two genes named neurogenin-1 and mash-1 that affect neurons in CNS and PNS. It is deemed that sox2 inhabits epithelial- mesenchymal transition and neural crest stratifications .
EMT can be activated by zin-finger factor and leads to malignant tumors . So it is not hard to deduce the association between sox2 and cancer. For example, in none-small cell lung carcinoma EMT is found to be up regulated, it is exposed by TGFβ-1 and since sox2 inhibits EMT through TGFβ-1 therefore NSCLC is related with sox2, this reduce can be evidenced by the positive rate of sox2 in NSCLC tissue which is 70.5%.
As for lung squamous cell cancer, sox2 was found to be amplified at a similar rate, 27 % and 33% in Rudin's study which observed 53 samples and Sasaki's study that investigated 87 cases separately.But the exact reasons for the increased number of sox2 is still not quite clear, just as the interstitial lung disease which links with ECT as well.
Sox2 is contributed to sox2/mir-140 pathway which is a pivotal pathway that relate to breast tumor, especially in the early forming period it regulates cells' survival. Therefore it provides a new way when considering breast cancer. The mechanism is mainly because mir-140 is down-regulated as a type of tumor suppressor microRNA and sox2 presents as its target. Moreover, by targeting down sox2 results a decreased proliferation of breast cancer cells which indicates that over-expression of sox2 is a causing factor of breast cancer .
Ovarian cancer and Prostate cancer
Since sox2 exists from the very beginning of a cell, it is quite easy to associate it with the beginning factors of life eggs and sperms which can then be linked to pathology form: ovarian cancer and prostate cancer. From a study about ovarian cancer which includes 43 normal overy species and 428 epithelial lesions, sox2 level is found to be linked directly with malignant degree, that is to say ovary carcinoma is related to sox2 over expression. Sox2 expression is also a factor for cell apoptosis evasion as well as cell proliferation in prostate cancer. As elucidated before, EMT is also plays an important part in both types of cancers and it is responses for resistance to therapy. Good news is targeting EMT can be considered in ovarian cancer .
It is well known that sox2 is the major cause of eye diseases, such as anophthalmia and microphthalmia. There are various reasons for that. one reason is the repression of wnt- beta-catenin signal may render the mutation of sox2 then result mutations of eyes; another reason is sox2 is easily to be impaired and slipped-stranded and a novel mutation c.59_60insGG is found as well. Moreover, in hippocampus and eye,knock-down sox2 can show defects in both neurou cells and progenitor cells.
Colon cancer, Gastric cancer, other studies that associated
Sox2 can presents as one tumor initiated cell in colon cancer together with some other factors as oct4, nanog est.
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