人类蛋白质编码基因5'端的GC含量正在经历突变性衰变
Yi Qiu1, Yoon Mo Kang1, Christopher Korfmann2
1Department of Biochemistry, University of Toronto, Toronto, Ontario, M5G1M1, Canada.
Genome biology
|August 13, 2024
概括
在脊椎动物中,转录起点 (TSS) 附近的富含GC的基因区域是由重组模式塑造的. 在与TSS以外的重组物种中,GC含量衰减,这表明选择没有维持这些峰值.
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:
- 大多数脊椎动物蛋白质编码基因在5'转录起点 (TSS) 附近表现出GC含量峰值.
- 这种富含GC的特征对于高效的mRNA核出口和翻译至关重要.
- TSS GC峰的进化起源和维护机制在很大程度上是未知的.
研究的目的:
- 为了研究驱动基因TSSs的GC内容动态的进化力量.
- 分析重组和突变在脊椎动物物种中形成GC峰的作用.
主要方法:
- 跨物种核酸替代率的比较基因组分析.
- 对人类de novo突变的检查.
- 与重组率和PRDM9基因相关的GC含量模式的分析.
主要成果:
- 在TSS的GC峰值很可能存在于脊椎动物和羊动物的共同祖先中.
- 在人猿和动物 (PRDM9-介导的重组脱离TSS) 中,基因的5'端的GC含量正在衰减.
- 在犬类动物 (在TSS重组,缺乏PRDM9) 中,5'基因GC含量正在增加,影响同义代号的使用.
结论:
- 羊体中的GC峰值动态受到历史重组模式的显著影响.
- 在猿类和动物中观察到的GC含量下降表明,GC峰值并不是通过这些基因系中大多数蛋白质编码基因的选择来积极维持的.
- 向平衡的突变衰变是非功能DNA的默认值.
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