rs2736098是一种同义多态,通过调节TERT表达,与多种组织类型的致癌和细胞数量有关
Xin-Xin Zhang1, Xin-Yi Yu1, Shuang-Jia Xu1
1College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi, 710119, PR China.
Heliyon
|March 18, 2024
概括
在TERT基因中的rs2736098多态性,以前被认为是不活跃的,作为瘤原体增强剂. 这种变异显著影响TERT表达,并与癌症风险增加和细胞增殖有关.
科学领域:
- 遗传学 遗传学 是一个
- 癌症生物学 癌症生物学
- 分子瘤学分子瘤学
背景情况:
- TERT基因编码了端粒酶逆转录酶,对瘤发育至关重要.
- rs2736098,TERT中的同义多态,显示突变频率高于预期.
- 基质子修饰 (H3K4me1,H3K27Ac) 表明rs2736098位于一个活性增强剂区域.
研究的目的:
- 调查rs2736098是否调节TERT表达并影响癌症风险.
- 确定rs2736098在致癌过程中的功能作用.
主要方法:
- 路西法酶试验用于评估TERT等位基因的增强剂活性.
- 等离子体转移以测量TERT表达水平.
- 染色体免疫沉用于识别相互作用蛋白质,包括USF1.1.
主要成果:
- 在多种组织中,rs2736098C等位基因表现出明显高于T等位基因的增强因子活性.
- 与T等位基因相比,C等位基因导致显著更高的TERT表达.
- rs2736098表明与核蛋白具有差异性的结合亲和力,并与USF1.1相互作用.
- rs2736098与各种组织和细胞类型的致癌有关.
结论:
- rs2736098通过增强TERT表达而作为一种瘤性多态.
- 这种多态性在细胞增殖和癌症发育中起着重要作用.
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