bims-crepig Biomed News
on Chromatin regulation and epigenetics in cell fate and cancer
Issue of 2025–09–07
sixteen papers selected by
Connor Rogerson, University of Cambridge



  1. Elife. 2025 Sep 03. pii: RP102930. [Epub ahead of print]13
      The insulator protein CTCF is essential for mediating chromatin loops and regulating gene expression. While it is established that DNA methylation hinders CTCF binding, the impacts of this methylation-sensitive CTCF binding on chromatin architecture and transcription are poorly defined. Here, we used a selective DNMT1 inhibitor (DNMT1i) to investigate the characteristics and functions of 'DNMT1i-specific' CTCF peaks resulting from global DNA demethylation. We found that DNMT1i-specific peaks preferentially form chromatin loops on gene bodies and interact with highly looping partner peaks located in regions of active chromatin. Notably, both DNMT1i-specific CTCF peaks and their highly looping partners are enriched near nuclear speckles - condensate bodies implicated in transcription and splicing. Utilizing targeted protein degradation, we specifically depleted CTCF and nuclear speckles to elucidate their functional interplay. By degrading CTCF upon DNMT1 inhibition, we revealed that CTCF is important for DNMT1i-dependent interactions between chromatin and speckle proteins. Moreover, we found that CTCF promotes the activation of genes near speckles upon DNMT1 inhibition. Conversely, acute depletion of nuclear speckles revealed that they influence RNA abundance but do not maintain CTCF binding or looping. Collectively, our study suggests a model wherein DNA methylation prevents spurious CTCF occupancy and interactions with regulatory elements near nuclear speckles, yet CTCF looping is robust toward the loss of speckles.
    Keywords:  CTCF; DNA looping; DNA methylation; chromatin; chromosomes; degron; gene expression; genetics; genomics; human; nuclear speckles
    DOI:  https://doi.org/10.7554/eLife.102930
  2. Nat Commun. 2025 Sep 01. 16(1): 8157
      Refining transcriptional levels via active repression in a euchromatic context represents a critical regulatory process. While the molecular players of active repression are well described, their dynamics remain obscure. Here, we used snail expression dynamics as a paradigm to uncover how repression, mediated by the Snail (Sna) repressor, can be imposed within a developing tissue. Combining live imaging and mathematical modeling, we show that Sna-mediated repression is cooperative and that cooperativity is primarily mediated by the distal enhancer. Repression shifts transcription bursting dynamics from a two-state ON/OFF regime to a three-state repressed regime with two temporally distinct OFF states. Mutating Sna binding sites suggests that repression introduces the long-lasting inactive state, which is stabilized by cooperativity. Our approach offers quantitative insights into the dynamics of repression and how transcription factor cooperativity coordinates cell fate decisions within a tissue.
    DOI:  https://doi.org/10.1038/s41467-025-62907-3
  3. Dev Cell. 2025 Aug 29. pii: S1534-5807(25)00505-2. [Epub ahead of print]
      Except for regulatory CpG-island sequences, genomes of most mammalian cells are widely DNA-methylated. In oocytes, though, DNA methylation (DNAme) is largely confined to transcribed regions. The mechanisms restricting de novo DNAme in oocytes and their relevance thereof for zygotic genome activation and embryonic development are largely unknown. Here we show that KDM2A and KDM2B, two histone demethylases, prevent genome-wide accumulation of histone H3 lysine 36 di-methylation, thereby impeding DNMT3A-catalyzed DNAme. We demonstrate that aberrant DNAme at CpG islands inherited from Kdm2a/Kdm2b double-mutant oocytes represses gene transcription in two-cell embryos. Aberrant maternal DNAme impairs pre-implantation embryonic development, which is suppressed by Dnmt3a deficiency during oogenesis. Hence, KDM2A/KDM2B are essential for confining the oocyte methylome, thereby conferring competence for early embryonic development. Our research implies that the reprogramming capacity eminent to early embryos is insufficient for erasing aberrant DNAme from maternal chromatin, and that early development is susceptible to gene dosage haplo-insufficiency effects.
    Keywords:  CpG island; DNA methylation; KDM2A; KDM2B; PRC1; Polycomb; embryogenesis; maternal epigenetic inheritance; oocyte; reprogramming
    DOI:  https://doi.org/10.1016/j.devcel.2025.08.005
  4. Dev Cell. 2025 Jun 17. pii: S1534-5807(25)00325-9. [Epub ahead of print]
      By mapping histone modifications in a human stem cell model of hepatic differentiation, we identified an enhancer landscape that is dynamic and stage specific, with many primed at the definitive endoderm stage. While hepatic enhancers gained active histone modifications, non-hepatic enhancers lost H3K4me1 after hepatic specification. T-box transcription factor 3 (TBX3) was found to bind to hepatic enhancers and promoters. TBX3 binding was transient, and only upon the dissociation of TBX3 from its bound regions were active histone modifications acquired. Subsequently, transcription was activated, supporting a role for TBX3 in directly activating the hepatic lineage. Constitutive overexpression of TBX3 indicated that dissociation of TBX3 is crucial for gene activation. TBX3 did not bind to any pancreatic regulatory regions directly, indicating indirect repression of the pancreatic lineage. Together, this suggests that TBX3 plays a role in identifying and bookmarking hepatic enhancers and promoters during specification, which subsequently will be activated to drive cell identity.
    Keywords:  ChIP-seq; TBX3; cell fate; chromatin dynamics; development; enhancers; gene regulation; histone modifications; liver
    DOI:  https://doi.org/10.1016/j.devcel.2025.05.014
  5. Nucleic Acids Res. 2025 Aug 27. pii: gkaf827. [Epub ahead of print]53(16):
      G-quadruplexes (G4s) are pivotal in transcriptional regulation. Although the interaction between G4s and G4-binding transcription factors (TFs) is critical for G4-dependent transcriptional regulation, the detailed mechanism, especially TF enrichment at G4s and its correlation with transcriptional regulation, remains unknown. In this study, using specificity protein 1 (SP1) as a representative G4-binding TF, we examined the mechanism of G4-dependent transcriptional regulation. Genomic analysis revealed substantial enrichment of SP1 in the oncogenic Bcl3 promoter harboring G4-forming sequences. We demonstrated that the formation of transcriptional condensates and the transcriptional activation of the Bcl3 promoter are heavily dependent on G4-dependent SP1 binding. Moreover, dissociation of SP1 condensates was prompted by RNA, which was enhanced by G4 formation within the RNA. Collectively, these results underscore the pivotal role of G4 in regulating gene expression through the modulation of SP1-mediated transcriptional condensation.
    DOI:  https://doi.org/10.1093/nar/gkaf827
  6. EMBO Rep. 2025 Sep 01.
      The t(11;22) translocation encodes the EWS::FLI1 fusion oncoprotein which is the primary driver of Ewing sarcoma. EWS::FLI1 creates unique, de novo pathogenic enhancers that drive gene expression and are a central mechanism of oncogenesis. Which chromatin regulatory proteins are critical to this mechanism is understudied. Here, we perform a comparative analysis of the function of the chromatin complexes MLL3/4 and p300/CBP in EWS::FLI1-mediated gene regulation. Using EWS::FLI1 degradation models, we define a subset of EWS::FLI1-sensitive enhancers whose activity correlates with p300/CBP function. We perturb both chromatin complexes to establish that in contrast to MLL3/4, p300/CBP is a critical regulator of EWS::FLI1-driven enhancer activity and downstream gene expression. We also show that p300/CBP small-molecule inhibition decelerates tumor growth in vivo. Our work highlights the context-dependent nature of chromatin protein activity at oncogenic enhancers and reveals p300/CBP as an important regulator of Ewing sarcoma.
    Keywords:  EWS::FLI1; Enhancers; Ewing Sarcoma; Histone Modifications; p300/CBP
    DOI:  https://doi.org/10.1038/s44319-025-00552-z
  7. Sci Adv. 2025 Aug 29. 11(35): eadw8040
      The measurement of three-dimensional genome folding in the nucleus, mostly through Hi-C methods, is expressed as contact frequencies between genomic segments, without anchoring to physical axes of the spherical nucleus. Here, we mapped the chromatin contacts along nuclear radial axis and built radial score by factoring in contact frequencies. The chromatin high-order structures exhibit rich diversity along radial axis. Furthermore, the proximal trans contacts retrieved by radial score reveal conserved active/inactive chromatin segregation across intra- and interchromosomal interactions. Ablation of CTCF proteins disrupts chromatin loops with mild changes to chromatin radial positioning. By acutely perturbing multiple transcription factor (TF) occupancy, chromatin loop dissolutions are often accompanied by radial dissociations between two anchors. Our work provides a genome architecture reference map adhering to nuclear physical axis and suggests that multiple architectural TFs collectively shape nuclear positioning of chromatin and their contacts, with contacts serving as forces on chromatin positioning as well.
    DOI:  https://doi.org/10.1126/sciadv.adw8040
  8. Nucleic Acids Res. 2025 Aug 27. pii: gkaf831. [Epub ahead of print]53(16):
      Sequence-specific interactions of transcription factors (TFs) with genomic DNA underlie many cellular processes. High-throughput in vitro binding assays coupled with machine learning have made it possible to accurately define such molecular recognition in a biophysically interpretable way for hundreds of TFs across many structural families, providing new avenues for predicting how the sequence preference of a TF is impacted by disease-associated mutations in its DNA binding domain. We developed a method based on a reference-free tetrahedral representation of variation in base preference within a given structural family that can be used to accurately predict the effect of mutations in the protein sequence of the TF. Using the basic helix-loop-helix (bHLH) and homeodomain (HD) families as test cases, our results demonstrate the feasibility of accurately predicting the shifts (ΔΔΔG/RT) in binding free energy associated with TF mutants by leveraging high-quality DNA binding models for sets of homologous wild-type TFs.
    DOI:  https://doi.org/10.1093/nar/gkaf831
  9. Nat Commun. 2025 Aug 29. 16(1): 8096
      Genome-wide association studies (GWAS) identify numerous disease-linked genetic variants at noncoding genomic loci, yet therapeutic progress is hampered by the challenge of deciphering the regulatory roles of these loci in tissue-specific contexts. Single-cell multimodal assays that simultaneously profile chromatin accessibility and gene expression could predict tissue-specific causal links between noncoding loci and the genes they affect. However, current computational strategies either neglect the causal relationship between chromatin accessibility and transcription or lack variant-level precision, aggregating data across genomic ranges due to data sparsity. To address this, we introduce GrID-Net, a graph neural network approach that generalizes Granger causal inference to detect new causal locus-gene associations in graph-structured systems such as single-cell trajectories. Inspired by the principles of optical parallax, which reveals object depth from static snapshots, we hypothesize that causal mechanisms could be inferred from static single-cell snapshots by exploiting the time lag between epigenetic and transcriptional cell states, a concept we term "cell-state parallax." Applying GrID-Net to schizophrenia (SCZ) genetic variants, we increase variant coverage by 36% and uncovered noncoding mechanisms that dysregulate 132 genes, including key potassium transporters such as KCNG2 and SLC12A6. Furthermore, we discover evidence for the prominent role of neural transcription-factor binding disruptions in SCZ etiology. Our work not only provides a strategy for elucidating the tissue-specific impact of noncoding variants but also underscores the breakthrough potential of cell-state parallax in single-cell multiomics for discovering tissue-specific gene regulatory mechanisms.
    DOI:  https://doi.org/10.1038/s41467-025-61337-5
  10. Nat Cell Biol. 2025 Sep 02.
      Embryonic development follows a conserved sequence of events across species, yet the pace of development is highly variable and particularly slow in humans. Species-specific developmental timing is largely recapitulated in stem cell models, suggesting a cell-intrinsic clock. Here we use directed differentiation of human embryonic stem cells into neuroectoderm to perform a whole-genome CRISPR-Cas9 knockout screen and show that the epigenetic factors Menin and SUZ12 modulate the speed of PAX6 expression during neural differentiation. Genetic and pharmacological loss-of-function of Menin or SUZ12 accelerate cell fate acquisition by shifting the balance of H3K4me3 and H3K27me3 at bivalent promoters, thereby priming key developmental genes for faster activation upon differentiation. We further reveal a synergistic interaction of Menin and SUZ12 in modulating differentiation speed. The acceleration effects were observed in definitive endoderm, cardiomyocyte and neuronal differentiation paradigms, pointing to chromatin bivalency as a general driver of timing across germ layers and developmental stages.
    DOI:  https://doi.org/10.1038/s41556-025-01751-5
  11. Nat Commun. 2025 Sep 02. 16(1): 8190
      SOX2 is a potent oncodriver for various squamous cancers, but the underlying mechanism is largely unknown. Here we uncover a role of SOX2 in promoting global histone acetylation in esophageal squamous cancer cells (ESCCs). Mechanistic studies reveal that SOX2 promotes global histone acetylation in an AKT-independent manner, and does so by promoting histone acetylation at both SOX2 binding and non-SOX2 binding sites, and accounts for the formation of about half of the super-enhancers. Combined metabolic and transcriptional analyses reveal two mechanisms by which SOX2 enhances global histone acetylation: promoting the expression of multiple histone acetyltransferases and reducing acetyl-CoA consuming fatty acid synthesis in part by repressing the expression of ACSL5. Finally, SOX2 expression correlates negatively with ACSL5 and positively with histone acetylation in clinical esophageal squamous tumors. Altogether, our study uncovers a role of SOX2 in reprogramming lipid metabolism and driving histone hyperacetylation and super-enhancer function, providing mechanistic insights of SOX2 acting as a potent oncodriver.
    DOI:  https://doi.org/10.1038/s41467-025-63591-z
  12. Nat Struct Mol Biol. 2025 Sep 01.
      Lamina-associated domains (LADs) are megabase-sized genomic regions that interact with the nuclear lamina (NL). It is not yet understood how their interactions with the NL are encoded in their DNA. Here we designed an efficient LAD 'scrambling' approach, based on transposon-mediated local hopping of loxP recombination sites, to generate series of large deletions and inversions that span LADs and flanking sequences. Mapping of NL interactions in these rearrangements revealed that, in mouse embryonic stem cells, a single LAD contacts the NL through multiple regions that act cooperatively or redundantly; some have more affinity for the NL than others and can pull neighboring sequences to the NL. Genes drawn toward the NL showed often but not always reduced expression and increased H3K9me3 levels. Furthermore, neighboring LADs can cooperatively interact with the NL when placed close enough to each other. These results elucidate principles that govern the positioning of megabase-sized genomic regions inside the cell nucleus.
    DOI:  https://doi.org/10.1038/s41594-025-01655-w
  13. Nat Commun. 2025 Aug 29. 16(1): 8071
      CRISPR-based transcriptional activation (CRISPRa) has extensive research and clinical potential. Here, we show that commonly used CRISPRa systems can exhibit pronounced cytotoxicity. We demonstrate the toxicity of CRISPRa vectors expressing the activation domains (ADs) of the transcription factors p65 and HSF1, components of the synergistic activation mediator (SAM) CRISPRa system. Based on our findings for the SAM system, we extended our studies to additional ADs and acetyltransferase core domains. We show that the expression of potent transcriptional activators in lentiviral producer cells can lead to low lentiviral titers, while their expression in the transduced target cells leads to cell death. Using inducible lentiviral vectors, we could not identify an activator expression window for effective SAM-based CRISPRa without measurable toxicity. The toxicity of current SAM-based CRISPRa systems hinders their wide adoption in biomedical research and introduces selection pressures that may confound genetic screens. Our results suggest that the further development of CRISPRa technology should consider both the efficiency of gene activation and activator toxicity.
    DOI:  https://doi.org/10.1038/s41467-025-63570-4
  14. Nature. 2025 Sep 03.
      Transcription factors (TFs) regulate gene expression by interacting with DNA in a sequence-specific manner. High-throughput in vitro technologies, such as protein-binding microarrays1-6 and HT-SELEX (high-throughput systematic evolution of ligands by exponential enrichment)7,8, have revealed the DNA-binding specificities of hundreds of TFs. However, they have limited ability to reliably identify lower-affinity DNA binding sites, which are increasingly recognized as important for precise spatiotemporal control of gene expression9-19. Here, to address this limitation, we developed protein affinity to DNA by in vitro transcription and RNA sequencing (PADIT-seq), with which we comprehensively assayed the binding preferences of six TFs to all possible ten-base-pair DNA sequences, detecting hundreds of novel, lower-affinity binding sites. The expanded repertoire of lower-affinity binding sites revealed that nucleotides flanking high-affinity DNA binding sites create overlapping lower-affinity sites that together modulate TF genomic occupancy in vivo. We propose a model in which TF binding is not determined by individual binding sites, but rather by the sum of multiple, overlapping binding sites. The overlapping binding model explains how competition between paralogous TFs for shared high-affinity binding sites is determined by flanking nucleotides that create differential numbers of overlapping, lower-affinity binding sites. Critically, the model transforms our understanding of noncoding-variant effects, revealing how single nucleotide changes simultaneously alter multiple overlapping sites to additively influence gene expression and human traits, including diseases.
    DOI:  https://doi.org/10.1038/s41586-025-09472-3
  15. Science. 2025 Aug 28. 389(6763): eadt5663
      Although specific transcription factors (TFs) are known to regulate cell fate decisions, the degree to which they can stimulate formation of specific cell organelles is less clear. We used a multiomics comparison of the transcriptomes of ciliated and unciliated embryonic cells to identify TFs up-regulated in ciliated cells. We also used conditional genetics in mouse embryos and stem cells and found that the TFs SP5 and SP8 regulate cilia formation and gene expression. In embryos lacking Sp5 and Sp8, primary and motile cilia were shorter than normal and reduced in number across cell types, contributing to situs inversus and hydrocephalus. Moreover, expression of SP8 was sufficient to induce primary cilia in unciliated cells. This work will facilitate the study of cilia assembly using stem cell models and promote further understanding of human ciliopathies.
    DOI:  https://doi.org/10.1126/science.adt5663
  16. NAR Genom Bioinform. 2025 Sep;7(3): lqaf113
      The transcription factor PAX8 is expressed in most ovarian tumors, being associated with increased tumorigenesis. Although recent studies have addressed the gene regulatory functions of PAX8 in ovarian cancer, an integrative analysis of multi-omic and patient data is required to identify the core regulatory network of PAX8 and its prognostic and therapeutic value. Here, we integrate PAX8 chromatin binding and accessibility data in ovarian cancer cells with transcriptomic and patients' data to gain insight into the core gene regulatory network orchestrated by PAX8 in ovarian tumors. Integration of differential chromatin accessibility, transcription factor binding, and gene expression upon PAX8 knockout provides a core regulatory network that explains most of the genes regulated by PAX8. We combine these target genes with patient expression data and find a PAX8 gene signature associated with tumor stemness, a property related to therapy resistance. Indeed, we show that the PAX8 gene signature predicts disease outcome and response to therapy in ovarian cancer patients. Finally, we validated experimentally our results from bioinformatic analyses, thus reassuring their robustness. Our findings uncover a PAX8 core network that represents a promising strategy for targeted antitumor therapies and open new pathways to fight against ovarian cancer resistance.
    DOI:  https://doi.org/10.1093/nargab/lqaf113