Hong Danni, Shu Muya, Liu Jiamao, Liu Lifang, Cheng Hao, Zhu Ming, Du Yi, Xu Bo, Hu Di, Liu Zhiyong, Zhao Yannan, Dai Jianwu, Lu Falong, Huang Jialiang
State Key Laboratory of Cellular Stress Biology, Xiang'an Hospital, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, Xiamen, Fujian, China.
National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, Fujian, China.
Nat Commun. 2025 Jun 2;16(1):5091. doi: 10.1038/s41467-025-60482-1.
Spatial transcriptomics and epigenomics have enabled mapping gene regulation in the tissue context. However, it remains poorly understood how spatial gene expression patterns are orchestrated by enhancers. Here we build eSpatial, a computational framework that deciphers spatially resolved enhancer regulation of gene expression by integrating spatial profiles of gene expression and chromatin accessibility. Applying eSpatial to diverse spatial datasets, including mouse embryo and brain, as well as human melanoma and breast cancer, we reveal a "spatial enhancer code", in which divergent combinations of enhancers regulate the same gene in spatially segregated domains. We validate the spatial enhancer code using public spatial datasets such as VISTA, Allen in situ hybridization (ISH), and H3K27ac MERFISH. Moreover, we conduct transgenic reporter assays and in vivo CRISPR/Cas9-mediated perturbation experiments to confirm the Atoh1 spatial enhancer code in determining Atoh1 spatial expression in mouse embryonic spinal cord and brain. Our study establishes the spatial enhancer code concept, revealing how combinations of enhancers dynamically shape gene expression across diverse biological contexts, providing insights into tissue-specific regulatory mechanisms and tumor heterogeneity.
空间转录组学和表观基因组学已能够在组织环境中绘制基因调控图谱。然而,增强子如何调控空间基因表达模式仍知之甚少。在此,我们构建了eSpatial,这是一个计算框架,通过整合基因表达和染色质可及性的空间图谱来解析基因表达的空间分辨增强子调控。将eSpatial应用于包括小鼠胚胎和大脑以及人类黑色素瘤和乳腺癌在内的各种空间数据集,我们揭示了一种“空间增强子密码”,其中不同的增强子组合在空间上分隔的区域调控同一个基因。我们使用诸如VISTA、艾伦原位杂交(ISH)和H3K27ac MERFISH等公共空间数据集验证了空间增强子密码。此外,我们进行了转基因报告基因检测和体内CRISPR/Cas9介导的扰动实验,以确认Atoh1空间增强子密码在确定小鼠胚胎脊髓和大脑中Atoh1空间表达中的作用。我们的研究确立了空间增强子密码的概念,揭示了增强子组合如何在不同生物学背景下动态塑造基因表达,为组织特异性调控机制和肿瘤异质性提供了见解。