哺乳动物TERT促进体中保存的G-四重复形成序列及其对突变频率的影响
Vera V Panova1, Nina G Dolinnaya2, Kirill A Novoselov2
1Department of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory 1, Moscow 119234, Russia.
Life (Basel, Switzerland)
|July 29, 2023
概括
在TERT促进体中的G-四重复 (G4) 动图在哺乳动物中保存,特别是在灵长类动物中. 这些G4结构可能会影响DNA修复和进化适应.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 分子生物学分子生物学
背景情况:
- 人类端粒酶逆转录酶 (hTERT) 促进体突变在癌症中很常见.
- 该hTERT促进体含有G-四重复 (G4) 形成序列,与突变性和基因组不稳定性有关.
研究的目的:
- 研究哺乳动物TERT促进区域中G4基因的存在,保存和进化意义.
- 确定G4基因是否有助于基因组不稳定性和物种间的进化适应.
主要方法:
- 使用QGRS映射器进行生物信息分析,在141种哺乳动物的1000bpTERT促进区域中识别G4动机.
- 区块对齐方法 (核酸泛基因组探索器) 以确定保存的G4动机和单核酸变异.
- 统计分析以比较保存的G4基因中的核酸替代频率与周围区域.
主要成果:
- G4基因主要位于转录开始部位附近 (高达400bp),并且在TERT促进体的非编码链上得到丰富.
- 11-22%的已识别的G4图案在相关的哺乳动物物种中被进化保存.
- 在与侧面区域相比,在保存的G4动图中观察到核酸替代的统计学上显著更高的频率,特别是灵长类动物.
结论:
- 哺乳动物TERT促进体中保存的G4动机表明它在基因组调节中的功能作用.
- G4结构可能在DNA修复过程中发挥作用,并影响进化适应,特别是在灵长类动物中.
- 这些发现支持了G4s影响基因组稳定性和物种演变的假设.
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