Systems Biology Center, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Nature. 2015 Dec 3;528(7580):142-6. doi: 10.1038/nature15740.
DNase I hypersensitive sites (DHSs) provide important information on the presence of transcriptional regulatory elements and the state of chromatin in mammalian cells. Conventional DNase sequencing (DNase-seq) for genome-wide DHSs profiling is limited by the requirement of millions of cells. Here we report an ultrasensitive strategy, called single-cell DNase sequencing (scDNase-seq) for detection of genome-wide DHSs in single cells. We show that DHS patterns at the single-cell level are highly reproducible among individual cells. Among different single cells, highly expressed gene promoters and enhancers associated with multiple active histone modifications display constitutive DHS whereas chromatin regions with fewer histone modifications exhibit high variation of DHS. Furthermore, the single-cell DHSs predict enhancers that regulate cell-specific gene expression programs and the cell-to-cell variations of DHS are predictive of gene expression. Finally, we apply scDNase-seq to pools of tumour cells and pools of normal cells, dissected from formalin-fixed paraffin-embedded tissue slides from patients with thyroid cancer, and detect thousands of tumour-specific DHSs. Many of these DHSs are associated with promoters and enhancers critically involved in cancer development. Analysis of the DHS sequences uncovers one mutation (chr18: 52417839G>C) in the tumour cells of a patient with follicular thyroid carcinoma, which affects the binding of the tumour suppressor protein p53 and correlates with decreased expression of its target gene TXNL1. In conclusion, scDNase-seq can reliably detect DHSs in single cells, greatly extending the range of applications of DHS analysis both for basic and for translational research, and may provide critical information for personalized medicine.
DNase I 超敏位点 (DHSs) 为哺乳动物细胞中转录调控元件的存在和染色质状态提供了重要信息。用于全基因组 DHSs 分析的传统 DNase 测序 (DNase-seq) 受到需要数百万个细胞的限制。在这里,我们报告了一种称为单细胞 DNase 测序 (scDNase-seq) 的超灵敏策略,用于检测单细胞中的全基因组 DHSs。我们表明,单个细胞水平的 DHS 模式在个体细胞之间具有高度可重复性。在不同的单个细胞中,与多种活跃的组蛋白修饰相关的高表达基因启动子和增强子显示组成型 DHS,而具有较少组蛋白修饰的染色质区域则表现出 DHS 的高度变化。此外,单细胞 DHSs 预测了调节细胞特异性基因表达程序的增强子,并且 DHS 的单细胞间变化可预测基因表达。最后,我们将 scDNase-seq 应用于从甲状腺癌患者的福尔马林固定石蜡包埋组织切片中分离的肿瘤细胞和正常细胞的混合物中,并检测到数千个肿瘤特异性 DHSs。这些 DHSs 中的许多都与在癌症发展中起关键作用的启动子和增强子相关。对 DHS 序列的分析揭示了一名滤泡性甲状腺癌患者肿瘤细胞中的一个突变(chr18: 52417839G>C),该突变影响肿瘤抑制蛋白 p53 的结合,并与其靶基因 TXNL1 的表达降低相关。总之,scDNase-seq 可以可靠地检测单细胞中的 DHSs,极大地扩展了 DHS 分析在基础和转化研究中的应用范围,并可能为个性化医疗提供关键信息。
Cytogenet Genome Res. 2014
Methods Mol Biol. 2018
Nature. 2012-9-6
Nucleic Acids Res. 2021-6-4
Nat Methods. 2016-1
Plant Biotechnol J. 2025-7
Biology (Basel). 2024-9-30
Burns Trauma. 2024-10-23
Curr Cancer Drug Targets. 2015
Cell. 2013-10-10