Genetic Variation of Gene-"Switch" of Disease Control
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gene is located on chromosome 17p13.3, and its product 14-3-3epsilon protein belongs to 14-3-3 protein family. As a molecular scaffold, participates in biological processes such as cell adhesion, cell cycle regulation, signal transduction and malignant transformation, and is closely related to many diseases. Overexpression of in breast cancer can increase the ability of proliferation, migration and invasion of breast cancer cells. In gastric cancer, acts as a negative regulator of and , which reduces their expression and inhibits the proliferation, migration, and invasion of gastric cancer cells, and enhances YWHAE-mediated transactivation of NF-κB through CagA. In colorectal cancer, lncRNA, as a sponge molecule of and , can compete for endogenous RNA through direct interaction with and , thus up-regulating and signaling pathways and promoting the cell cycle progression of the colorectal cancer. not only mediates tumorigenesis as a competitive endogenous RNA, but also affects gene expression through chromosome variation. For example, the fusion gene caused by t(10; 17) (q22; p13) may be associated with the development of endometrial stromal sarcoma. At the same time, the fusion transcript of and may also lead to the occurrence of endometrial stromal sarcoma. To understand the relationship between , and gene rearrangement/fusion and malignant tumor, fusion gene/translocation and tumor, gene polymorphism and mental illness, as well as the relationship between 17p13.3 region change and disease occurrence. It provides new idea and basis for understanding the effect of gene molecular mechanism and genetic variation on the disease progression, and for the targeted for the diseases.
Ye N, Shi X, Gao J, Dong R, Wang G, Wang J Dig Dis Sci. 2024; 69(4):1253-1262.
PMID: 38361148 DOI: 10.1007/s10620-023-08265-w.