完整的人类中间体的变化和进化
Glennis A Logsdon1, Allison N Rozanski1, Fedor Ryabov2
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
bioRxiv : the preprint server for biology
|July 3, 2023
概括
人类中间体表现出显著的遗传变异和新型结构,挑战目前的测序方法. 进化分析揭示了跨物种的中心体DNA序列的快速转换.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 分子遗传学 分子遗传学
背景情况:
- 中介质对于染色体分离至关重要,但由于重复的序列,它们的研究具有挑战性.
- 了解中心变异是理解基因组稳定性和进化的关键.
研究的目的:
- 为了全面测序和组装人类的中间体.
- 为了基因,表观遗传和进化变异的基因基因基因基因和进化变异的基因基因基因基因基因基因基因基因基因基因基因基因基因.
- 为了研究新型中心体结构对序列对齐和动脉位定位的影响.
主要方法:
- 从人类基因组中完成中粒体的测序和组装.
- 使用两个参考集和人类和猿类的多样性小组进行比较分析.
- 进行DNA甲基化和CENP-A染色体免疫沉实验.
- 从黑猩猩,猩猩和的基因组中测序和组装正统的中间体.
主要成果:
- 中心分子单核酸变异可能比其他基因组区域高出4.1倍.
- 由于新型的α-卫星高阶重复 (HOR) 结构和长度变化,很难对准显著部分的中心级序列.
- 八个人类中间体显示出明显的α-卫星HOR结构,四个含有丰富的新型变体.
- 26%的中间体呈现出与新型HORs没有明确联系的动脉位位置差异.
- 对比分析显示,阿尔法卫星HOR在物种之间几乎完全的周转,具有特定物种的结构变化.
结论:
- 人类中间体表现出大量的遗传和结构多样性,影响了基因组分析.
- 新的α-卫星HORs具有单体起源,允许估计放大和突变速率.
- 中心进化是以快速的序列周转和特定物种的适应性为特征.
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