人类和其他大猿类基因组中的G-四重复的进化动态 端粒到端粒基因组
Saswat K Mohanty1,2, Francesca Chiaromonte3,4,5, Kateryna D Makova2,4
1Molecular, Cellular, and Integrative Biosciences, Huck Institutes of the Life Sciences, Penn State University, University Park, PA 16802, USA.
bioRxiv : the preprint server for biology
|November 22, 2024
概括
G四重复体 (G4s) 是影响基因组稳定性和基因调节的DNA结构. 这项研究揭示了它们的进化动态和使用先进的基因组测序在大猿中保留的角色.
科学领域:
- 基因组学和进化生物学
- DNA结构和功能DNA结构和功能
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和基因调节.
- 灵长类物种中G4s的进化动态和功能意义仍然未被充分探索.
研究的目的:
- 为了全面分析预测的G-四重复合体 (pG4s) 在人类和大猿的高分辨率端粒到端粒 (T2T) 基因组中.
- 为了研究pG4s跨物种的进化模式,保护和功能作用.
主要方法:
- 在人类,红猩猩,黑猩猩,大猩猩和猩猩的新发布的T2T基因组中分析pG4s.
- 比较基因组学以确定共享的和特定物种的pG4s.
- 在监管区域评估pG4甲基化状态.
主要成果:
- 数万个新的pG4s被注释出来,大约三分之一是所有研究的大猿共享的.
- pG4s表现出与物种分歧时间一致的进化积累和分歧率.
- 共享的pG4s在调节区域 (促进体,UTR,复制起源) 得到丰富,并显示低甲基化,这表明功能角色得到保护.
结论:
- 这项研究揭示了G4s的进化轨迹,以及它们在大猿的基因调节中的保留作用.
- 高分辨率的T2T基因组对于发现像G4s这样的复杂基因组特征至关重要.
- pG4s可能有助于特定物种的适应,特别是那些位于重复和卫星DNA区域的适应.
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