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基于单个核酸变异的细胞分类可以表征依赖突变的转录组和染色质状态

Roberto Salatino^1,2,3, Marianna Franco^1,2,3, Arantxa Romero-Toledo^1,2

¹Department of Molecular Medicine, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL 33458, United States.

Nucleic acids research

|August 14, 2025

概括

研究人员开发了STAR-FACS来识别具有特定突变的细胞,使得研究罕见细胞群的研究. 这种方法将单核酸变异与转录和表观遗传变化联系起来,推动了癌症研究.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
癌症研究癌症研究

背景情况:

瘤基因和瘤抑制基因的点突变驱动瘤发生.
非编码区域的单核酸变体 (SNV) 也会影响癌症的发展.
将SNV与单细胞转录组和表观遗传变化的联系是具有挑战性的.

研究的目的:

开发一种基于特定基因组变化的罕见细胞种群隔离和分析的方法.
为了研究与非编码SNVs相关的转录和表观遗传异质性.
提供一种工具,在癌症单细胞水平上将基因型与表型连接起来.

主要方法:

开发了STAR-FACS (特定对等位基聚合酶连锁反应 - 光激活细胞分类) 用于通过细胞内DNA放大来标记等位基特定的细胞.
用批量或单细胞转录组学对下游分析进行排序的标记细胞.
验证了与CUT&Tag用于染色体特征表征的兼容性.

主要成果:

根据TERT促进体突变状态,STAR-FACS成功分离了细胞.
该方法适用于初级细胞系和分离的固体瘤组织.
在具有不同TERT促进SNVs的质母细胞中观察到不同的转录程序.

结论:

STAR-FACS是一种基于特定基因组点突变隔离细胞的新工具.
这种方法有助于研究将亚克隆非编码SNV与转录组和表观遗传异质性联系起来.
能够更深入地了解癌症的演变和治疗耐药性机制.

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