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科学通报  2015 

端粒酶基因突变与癌症发生

DOI: 10.1360/N972015-00762, PP. 2790-2793

Keywords: 端粒酶逆转录酶,启动子,突变,癌症发生

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Abstract:

端粒是染色体末端一段特殊的重复核苷酸结构,可防止染色体降解或融合.端粒功能异常可导致衰老和癌症等多种疾病.端粒酶逆转录酶(TERT)是端粒酶的催化亚基,可有效保持端粒结构完整性.在黑色素瘤、神经胶质瘤、膀胱癌和肝癌等多种癌症中鉴定出存在高频TERT基因启动子区-124C>T和-146C>T突变,并且这种突变可导致TERT的mRNA、蛋白和酶活性增加,从而增加端粒长度.TERT基因启动子突变可增加转录因子GABP结合而激活基因转录.这些发现将为癌症诊断和治疗提供新的靶点.

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