Sox12基因是Sox基因家族的一员,编码一种SRY(sex determining region Y)相关的转录因子,具有高迁移率族盒(high-mobility group box, HMG box)结构域。Sox基因家族成员在脊椎动物胚胎发育过程中发挥着重要的调控作用,包括性别决定、神经发生和器官形成等。Sox12基因在这些过程中,尤其是在神经系统的发育中,扮演着关键角色。
Sox12基因在多种癌症中的表达异常,与肿瘤的发生、发展和预后密切相关。例如,在甲状腺癌中,Sox12的表达增加,促进了癌细胞的增殖、迁移和侵袭,以及体内肿瘤的生长[1]。在结直肠癌中,Sox12的过表达与患者的预后不良相关,通过调节天冬酰胺合成促进癌细胞的增殖和转移[2]。在急性髓系白血病(AML)中,Sox12的表达上调,与DNA复制和RNA聚合酶信号通路相关,并通过靶向调节影响癌细胞的凋亡和增殖能力[3,4]。
此外,Sox12基因的表达异常还与神经系统疾病有关。例如,Sox12基因的突变或变异可能导致神经发育障碍,如智力障碍和情绪行为障碍[5]。研究还发现,Sox12基因的表达与免疫细胞浸润相关,可能作为结直肠癌的潜在生物标志物[6]。
综上所述,Sox12基因在多种生物学过程中发挥着重要作用,包括神经系统的发育、肿瘤的发生发展和神经系统疾病。Sox12基因的表达异常与多种疾病的发生和发展密切相关,可能作为疾病诊断和治疗的潜在靶点。未来需要进一步研究Sox12基因在疾病发生发展中的作用机制,为疾病的诊断和治疗提供新的思路和策略。
参考文献:
1. Su, Zhenxi, Bao, Wenqing, Yang, Guanghua, Liu, Jianping, Zhao, Bin. . SOX12 Promotes Thyroid Cancer Cell Proliferation and Invasion by Regulating the Expression of POU2F1 and POU3F1. In Yonsei medical journal, 63, 591-600. doi:10.3349/ymj.2022.63.6.591. https://pubmed.ncbi.nlm.nih.gov/35619584/
2. Du, Feng, Chen, Jie, Liu, Hao, Fan, Daiming, Xia, Limin. 2019. SOX12 promotes colorectal cancer cell proliferation and metastasis by regulating asparagine synthesis. In Cell death & disease, 10, 239. doi:10.1038/s41419-019-1481-9. https://pubmed.ncbi.nlm.nih.gov/30858360/
3. Wang, Ying, Guo, Xiaonan, Wang, Lihua, Zhang, Xiaolei, Ren, Jinhai. 2022. miR-342-3p Inhibits Acute Myeloid Leukemia Progression by Targeting SOX12. In Oxidative medicine and cellular longevity, 2022, 1275141. doi:10.1155/2022/1275141. https://pubmed.ncbi.nlm.nih.gov/36120594/
4. Wan, Haixia, Cai, Jiayi, Chen, Fangyuan, Zhong, Jihua, Zhong, Hua. 2016. SOX12: a novel potential target for acute myeloid leukaemia. In British journal of haematology, 176, 421-430. doi:10.1111/bjh.14425. https://pubmed.ncbi.nlm.nih.gov/27858992/
5. Treccarichi, Simone, Calì, Francesco, Vinci, Mirella, Saccone, Salvatore, Elia, Maurizio. 2024. Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders. In Current issues in molecular biology, 46, 6407-6422. doi:10.3390/cimb46070383. https://pubmed.ncbi.nlm.nih.gov/39057025/
6. Chen, Xinyi, Yang, Mu, Tu, Jingyao, Yuan, Xianglin. 2023. Integrated bioinformatics and validation reveal SOX12 as potential biomarker in colon adenocarcinoma based on an immune infiltration-related ceRNA network. In Journal of cancer research and clinical oncology, 149, 15737-15762. doi:10.1007/s00432-023-05316-7. https://pubmed.ncbi.nlm.nih.gov/37668799/