人类和其他类人猿预测的G-四重复的进化动态
Saswat K Mohanty1,2, Francesca Chiaromonte3,4,5, Kateryna D Makova6,7
1Molecular, Cellular, and Integrative Biosciences, Huck Institutes of the Life Sciences, Penn State University, University Park, PA, 16802, USA.
Genome biology
|June 11, 2025
概括
G四重复体 (G4s) 是DNA结构,对基因组稳定性和基因调节至关重要. 新的高分辨率基因组数据揭示了猿类中成千上万个新的G4s,保存和特定物种的形式推动了进化和适应.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 生物信息学是一种生物信息学.
背景情况:
- G四重复体 (G4s) 是非正规的DNA结构,涉及基因组不稳定性,端粒维护和基因调节.
- 以前对灵长类基因组中的G4s的研究受到不完整的基因组组合的限制.
研究的目的:
- 综合分析预测的G4s (pG4s) 在人类和大猿的高分辨率端粒到端粒 (T2T) 基因组中.
- 调查pG4s在这些物种中的进化动态,保护和功能作用.
主要方法:
- 在最近发布的T2T人类和猿类基因组中预测的G4s (pG4s) 的分析.
- 使用跨物种全基因组对齐的比较基因组学来识别共享和特定物种的pG4s.
- 检查pG4s在调节区域和重复中的位置,以及它们的甲基化状态.
主要成果:
- 在T2T基因组中鉴定了41,232-174,442个新的pG4s,代表了5%-21%的增加.
- 发现大约三分之一的pG4s在猿类和数千个特定物种的pG4s中共享.
- 共享的pG4s在调节区域中被丰富和低甲基化,而特定物种的pG4s在调节区域中被发现并重复,可能驱动适应和基因组扩张.
结论:
- 高分辨率的T2T基因组揭示了以前隐藏的G4,阐明了它们的进化动态和功能意义.
- 保存的G4s在子物种的基因调节中发挥作用.
- 特定物种的G4s有助于猿人基因组的进化,适应和扩张.
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