细胞SNVReg:一个多维资源,用于SNV介导的调节干扰在单细胞和空间奥米克斯
Jingyi Shi1, Shiqian Zhang1, Zhenglin Lu1
1College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang 150081, China.
Nucleic acids research
|October 31, 2025
概括
细胞SNVReg是一个新的资源,它绘制了单核酸变体 (SNV) 如何破坏细胞类型之间的基因调节. 它识别了成千上万的调节干扰,有助于疾病基因发现.
科学领域:
- 基因组学和生物信息学
- 分子生物学分子生物学
- 系统生物学 系统生物学
背景情况:
- 单核酸变异 (SNVs) 是常见的遗传变异,可以改变基因调节,RNA处理和蛋白质功能.
- 这些分子变化会导致细胞功能的改变,并导致疾病的发展.
- 需要一个全面的资源,以系统地描述高分辨率的SNV诱导的监管干扰.
研究的目的:
- 介绍CellSNVReg,这是一个多维资源,用于描述SNV驱动的调节干扰.
- 提供细胞类型和空间分辨率这些扰动在人体组织.
- 促进对疾病相关的SNV的优先考虑,并了解它们的功能后果.
主要方法:
- 整合了来自单细胞RNA测序 (scRNA-seq),空间转录组学和单细胞ATAC-seq (scATAC-seq) 的460万个细胞资料.
- 在六个维度中确定了调节干扰:miRNA-target,转录因子 (TF) -target,增强剂-target,RNA结合蛋白 (RBP) -target,蛋白质-蛋白质相互作用和新抗原生成.
- 扰乱目标基因和相关扰乱网络的特征差异表达,提供定量影响评分.
主要成果:
- 在CellSNVReg中,每个样本平均发现了超过7万个调节干扰.
- 该资源为SNV扰动影响提供了定性注释和定量得分.
- 关联SNV扰乱的标与细胞状态,新陈代谢和通信的下游功能变化.
结论:
- 细胞SNVReg提供了一个高分辨率的框架,用于剖析SNV在不同监管层的功能影响.
- 该资源可以探索SNV介导的监管干扰及其在正常和疾病环境中的表型后果.
- 促进对SNV在疾病发展中的作用和潜在的治疗策略的理解.
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