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一个完整和近乎完美的 rhesus macaque 参考基因组:从子端粒重复和测序偏差中吸取教训
Shilong Zhang1, Ning Xu2,3,4,5, Yong Lu2,3
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
bioRxiv : the preprint server for biology
|September 29, 2025
概括
我们创建了T2T-MMU8v2.0,一个高精度的 rhesus macaque 基因组组装. 这种新的参考基因组提高了我们对灵长类基因组学和重复性DNA区域的理解.
科学领域:
- 基因组学就是基因组学.
- 进行比较基因组学.
- 灵长类的基因组学
背景情况:
- 一个完整的,无错误的端粒到端粒 (T2T) 参考基因组对于公正的基因组学研究至关重要.
- 现有的灵长类T2T组件经常含有错误,特别是在重复区域,限制了它们的实用性.
研究的目的:
- 为了开发T2T-MMU8v2.0,一个近乎完美的端粒到端粒组合的 rhesus (Macaca mulatta) 基因组.
- 建立一个新的灵长类动物基因组准确性的基准,并为比较和功能基因组学提供资源.
主要方法:
- 利用一个优化的牛津纳米孔技术 (ONT) 仅组装策略.
- 确定并解决了复杂的分端体卫星丰富区域,包括SATR卫星阵列.
主要成果:
- 取得了迄今为止与T2T-MMU8v2.0.0一起报告的灵长类基因组的最高基层准确性.
- 发现了268个新的重复家族,并解决了~8 Mbp的卫星阵列,改善了以前错误组装的区域的组装.
- 在身上特征了四种不同的亚端粒基因组架构,它们含有活跃转录的基因,与人类不同.
结论:
- T2T-MMU8v2.0为灵长类基因组组装设定了新的标准,提高了准确性和解决复杂的重复区域.
- 这项研究为组装具有挑战性的基因组区域提供了路线图,并揭示了对子端粒基因组结构和演变的新见解.
- 改进的 rhesus macaque 基因组增强了各种基因组研究的变异检测,调控注释和转录组分辨率.
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03:00Next-generation Sequencing
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