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人类双胞胎细胞系 RPE-1 的参考基因组

Emilia Volpe¹, Alessio Colantoni¹, Luca Corda¹

¹Giunta Laboratory of Genome Evolution, Department of Biology and Biotechnologies "Charles Darwin", University of Rome "Sapienza", Rome, Italy.

Nature communications

|September 12, 2025

概括

我们介绍RPE1v1.1,这是RPE-1细胞系的近乎完整的双倍体基因组组. 这种参考基因组有助于通过分辨复杂的区域,如中间体,进行精确的遗传研究.

科学领域:

基因组学就是基因组学.
人类遗传学人类遗传学
细胞生物学细胞生物学

背景情况:

端粒对端粒 (T2T) 基因组组合提供了完整的人类基因组架构.
像CHM13这样的现有T2T组件可能不反映特定的实验细胞系,限制了功能研究.
相关细胞系的参考组件对于精确的测序和操纵至关重要,特别是在可变的基因组区域.

研究的目的:

为hTERT RPE-1细胞系生成高质量的,几乎完整的双倍体基因组组.
为RPE-1细胞系提供参考基因组,支持先进的遗传和表观遗传研究.
识别和表征RPE-1细胞系内的基因组变异,包括中心体区域和结构重组.

主要方法:

利用高覆盖率的太平洋生物科学和牛津纳米孔技术长期阅读的测序进行de novo组装.
为所有染色体生成了跨越中间体的染色体水平支架.
集成的高通量染色体构造捕获 (Hi-C) 数据用于分阶段和验证.

主要成果:

开发了RPE1v1.1,这是hTERT RPE-1细胞系的近乎完整的双胞胎基因组组.
该组件包括染色体水平的支架,覆盖所有染色体的中间体.
与CHM13.13相比,确定了对单个类型特定的基因组变异,包括特征性的t(X;10) 转位和中心体的显著分歧.

结论:

RPE1v1.1 作为广泛使用的 RPE-1 细胞系的有价值的参考质量的二倍体基因组组.
该组件可在RPE-1模型系统中进行高精度的遗传和表观遗传研究.
详细的基因组信息支持对复杂的基因组区域和细胞系特定变异的研究.

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