Gralak Antoni J, Faltejskova Katerina, Yang Ally W H, Steiner Clemence, Russeil Julie, Grenningloh Nadia, Inukai Sachi, Demir Mustafa, Dainese Riccardo, Owen Cooper, Pankevich Eugenia, Hughes Timothy R, Kulakovskiy Ivan V, Kribelbauer-Swietek Judith F, van Mierlo Guido, Deplancke Bart
Laboratory of Systems Biology and Genetics, Institute of Bioengineering, School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
Swiss Institute of Bioinformatics, Lausanne, Switzerland.
bioRxiv. 2024 Nov 12:2024.11.11.619598. doi: 10.1101/2024.11.11.619598.
Transcription factors (TFs) are key players in eukaryotic gene regulation, but the DNA binding specificity of many TFs remains unknown. Here, we assayed 284 mostly poorly characterized, putative human TFs using selective microfluidics-based ligand enrichment followed by sequencing (SMiLE-seq), revealing 72 new DNA binding motifs. To investigate whether some of the 158 TFs for which we did not find motifs preferably bind epigenetically modified DNA (i.e. methylated CG dinucleotides), we developed methylation-sensitive SMiLE-seq (meSMiLE-seq). This microfluidic assay simultaneously probes the affinity of a protein to methylated and unmethylated DNA, augmenting the capabilities of the original method to infer methylation-aware binding sites. We assayed 114 TFs with meSMiLE-seq and identified DNA-binding models for 48 proteins, including the known methylation-sensitive binding modes for POU5F1 and RFX5. For 11 TFs, binding to methylated DNA was preferred or resulted in the discovery of alternative, methylation-dependent motifs (e.g. PRDM13), while aversion towards methylated sequences was found for 13 TFs (e.g. USF3). Finally, we uncovered a potential role for ZHX2 as a putative binder of Z-DNA, a left-handed helical DNA structure which is adopted more frequently upon CpG methylation. Altogether, our study significantly expands the human TF codebook by identifying DNA binding motifs for 98 TFs, while providing a versatile platform to quantitatively assay the impact of DNA modifications on TF binding.
转录因子(TFs)是真核基因调控的关键因子,但许多TFs的DNA结合特异性仍不清楚。在这里,我们使用基于微流控的选择性配体富集测序(SMiLE-seq)对284个大多特征不明的假定人类TFs进行了检测,揭示了72个新的DNA结合基序。为了研究我们未发现基序的158个TFs中是否有一些更倾向于结合表观遗传修饰的DNA(即甲基化的CG二核苷酸),我们开发了甲基化敏感的SMiLE-seq(meSMiLE-seq)。这种微流控检测方法同时探测蛋白质与甲基化和未甲基化DNA的亲和力,增强了原始方法推断甲基化感知结合位点的能力。我们用meSMiLE-seq检测了114个TFs,并确定了48种蛋白质的DNA结合模型,包括POU5F1和RFX5已知的甲基化敏感结合模式。对于11个TFs,它们更倾向于结合甲基化DNA或发现了其他依赖甲基化的基序(如PRDM13),而对于13个TFs(如USF3),则发现它们对甲基化序列有排斥作用。最后,我们发现了ZHX2作为Z-DNA假定结合蛋白的潜在作用,Z-DNA是一种左手螺旋DNA结构,在CpG甲基化时更频繁出现。总之,我们的研究通过鉴定98个TFs的DNA结合基序,显著扩展了人类TF密码本,同时提供了一个通用平台来定量检测DNA修饰对TF结合的影响。