bims-ginsta Biomed News
on Genome instability
Issue of 2025–12–28
twenty-six papers selected by
Jinrong Hu, National University of Singapore



  1. Nature. 2025 Dec 22.
      The nascent polypeptide-associated complex (NAC) is a conserved ribosome-bound factor with essential yet incompletely understood roles in protein biogenesis1. Here, we show that NAC is a multifaceted regulator that coordinates translation elongation, cotranslational folding, and organelle targeting through distinct interactions with nascent polypeptides both inside and outside the ribosome exit tunnel. Using NAC-selective ribosome profiling in C. elegans, we identify thousands of sequence-specific NAC binding events across the nascent proteome, revealing broad cotranslational engagement with hydrophobic and helical motifs in cytosolic, nuclear, ER, and mitochondrial proteins. Unexpectedly, we discover an intra-tunnel sensing mode, where NAC engages ribosomes with extremely short nascent polypeptides inside the exit tunnel in a sequence-specific manner. Moreover, initial NAC interactions induce an early elongation slowdown that tunes ribosome flux and prevent ribosome collisions, linking NAC's chaperone activity to kinetic control of translation. We propose NAC action protects aggregation-prone intermediates by shielding amphipathic helices, thus promoting cytonuclear folding. NAC also supports mitochondrial membrane protein biogenesis and ER targeting by early recognition of signal sequences and transmembrane domain. Our findings establish NAC as an early-acting, multifaceted orchestrator of cotranslational proteostasis, with distinct mechanisms of action on nascent chains depending on their sequence features and subcellular destinations.
    DOI:  https://doi.org/10.1038/s41586-025-10058-2
  2. Nat Cell Biol. 2025 Dec 22.
      Identity-specific chromosome conformation must be re-established at each cell division. To uncover how interphase folding is inherited, we developed an approach that segregates chromosome-intrinsic mechanisms from those propagated through the cytoplasm during G1 nuclear reassembly. Inducible degradation of proteins essential for the establishment of nucleocytoplasmic transport during mitotic exit enabled analysis of folding programmes with distinct modes of inheritance. Here we show that genome compartmentalization is driven entirely by chromosome-intrinsic factors. In addition to conventional compartmental segregation, the chromosome-intrinsic folding programme leads to prominent genome-scale microcompartmentalization of mitotically bookmarked cis-regulatory elements. The microcompartment conformation forms transiently during telophase and is subsequently modulated by a second folding programme inherited through the cytoplasm in early G1. This programme includes cohesin-mediated loop extrusion and factors involved in transcription and RNA processing. The combined and interdependent action of chromosome-intrinsic and cytoplasmic inherited folding programmes determines the interphase chromatin conformation as cells exit mitosis.
    DOI:  https://doi.org/10.1038/s41556-025-01828-1
  3. Cell. 2025 Dec 23. pii: S0092-8674(25)01232-2. [Epub ahead of print]
      Implantation of a human embryo into the endometrium is a crucial event in gestation, as it marks the initiation of a pregnancy and is prone to high failure rates. We have limited understanding of these stages because of the inaccessibility of implanting embryos and the lack of suitable model systems. Here, we establish an in vitro model that recapitulates the luminal, glandular, and stromal compartments of the superficial layer of receptive human endometrium. Human embryos and blastoids implant into the endometrial model, achieving post-implantation hallmarks including advanced trophoblast structures that underlie early events in placental development. Single-cell RNA sequencing of the embryo-endometrial interface at day 14 uncovers predicted molecular interactions between conceptus and endometrium. Disrupting signaling interactions between extravillous trophoblast and endometrial stromal cells caused defects in trophoblast outgrowth, demonstrating the importance of crosstalk processes to sustain embryogenesis. This platform opens the opportunity to investigate early stages of human embryo implantation.
    Keywords:  development; embryo; embryogenesis; endometrium; human; implantation; in vitro model; placenta; reproduction; trophoblast
    DOI:  https://doi.org/10.1016/j.cell.2025.10.027
  4. Cell. 2025 Dec 22. pii: S0092-8674(25)01366-2. [Epub ahead of print]
      During chronic stress, cells must support both tissue function and their own survival. Hepatocytes perform metabolic, synthetic, and detoxification roles, but chronic nutrient imbalances can induce hepatocyte death and precipitate metabolic dysfunction-associated steatohepatitis (MASH, formerly NASH). Despite prior work identifying stress-induced drivers of hepatocyte death, chronic stress' functional impact on surviving cells remains unclear. Through cross-species longitudinal single-cell multi-omics, we show that ongoing stress drives prognostic developmental and cancer-associated programs in non-transformed hepatocytes while reducing their mature functional identity. Creating integrative computational methods, we identify and then experimentally validate master regulators perturbing hepatocyte functional balance, increasing proliferation under stress, and directly priming future tumorigenesis. Through geographic regression on human tissue microarray spatial transcriptomics, we uncover spatially structured multicellular communities and signaling interactions shaping stress responses. Our work reveals how cells' early solutions to chronic stress can prime future tumorigenesis and outcomes, unifying diverse modes of cellular dysfunction around core actionable mechanisms.
    Keywords:  chronic stress response; computational methods development; epigenetic priming; genetic perturbation; liver; metabolism; single-cell genomics; tissue memory
    DOI:  https://doi.org/10.1016/j.cell.2025.11.031
  5. Nat Commun. 2025 Dec 21.
      Collective cell migration during embryonic development, wound healing, and cancer metastasis requires the emergence of leader cells at the migration front. Despite their physiological relevance, the full mechanisms underlying the emergence of leader cells remain elusive. Here we report that leader cells display a peripheral accumulation of lysosomes in diverse model systems for wound healing, including cultured epithelial monolayer, mouse embryonic skin, and Drosophila embryos. This accumulation involves cellular contractile forces driving lysosomal transport along microtubules towards the leading edge. Indeed, we control leader cell emergence by manipulating lysosomal movement on microtubules. We further find that peripheral lysosomes associate with Rac1 molecules at the leading periphery, regulating local Rac1-activity, triggering actin polymerization and promoting lamellipodium formation. Taken together, we demonstrate that beyond their catabolic role, lysosomes act as an intracellular platform that links mechanical and biochemical signals to control the emergence of leader cells.
    DOI:  https://doi.org/10.1038/s41467-025-67645-0
  6. Cell. 2025 Dec 23. pii: S0092-8674(25)01230-9. [Epub ahead of print]
      A better understanding of human implantation is essential for improving assisted reproduction outcomes and addressing recurrent implantation failure (RIF). However, ethical constraints and limited access to human embryos make direct studies challenging. To overcome this, we developed a 3D in-chip implantation model using human blastoids or blastocysts co-cultured with a bioengineered human endometrial tissue, termed endometrioid. This system successfully recapitulates key events of human implantation and early post-implantation development. Importantly, when modeling implantation using samples derived from RIF patients, we observed significantly reduced blastoid implantation capability compared with endometrioids from fertile controls. Furthermore, a targeted screen of U.S. Food and Drug Administration (FDA)-approved compounds identified candidates that markedly enhanced implantation efficiency in RIF-derived endometrioids. Together, this 3D platform enables mechanistic investigation of human implantation and implantation failure and offers a scalable approach to evaluate therapeutic strategies for improving embryo-endometrium interaction in a clinical setting.
    Keywords:  endometrioid; human blastoid; human early development; human implantation; recurrent implantation failure; stem cell-derived embryo model
    DOI:  https://doi.org/10.1016/j.cell.2025.10.026
  7. Cell Syst. 2025 Dec 22. pii: S2405-4712(25)00289-3. [Epub ahead of print] 101456
      The maintenance of cellular homeostasis requires tight regulation of proteome concentration and composition. To achieve this, protein production and elimination must be robustly coordinated. However, the mechanistic basis of this coordination remains unclear. Here, we address this question using quantitative live-cell imaging, computational modeling, transcriptomics, and proteomics approaches. We found that protein decay rates systematically adapt to global alterations of protein synthesis rates. This adaptation is driven by a core passive mechanism supplemented by facultative changes in mechanistic/mammalian target of rapamycin (mTOR) signaling. Passive adaptation hinges on changes in the production rate of the machinery governing protein decay and allows for partial maintenance of the cellular proteome. Sustained changes in mTOR signaling provide an additional layer of adaptation unique to naive pluripotent stem cells, allowing for near-perfect maintenance of proteome composition. Our work unravels the mechanisms protecting the integrity of mammalian proteomes upon variations in protein synthesis rates. A record of this paper's transparent peer review process is included in the supplemental information.
    Keywords:  Bayesian inference; cell proliferation; dynamic SILAC; passive adaptation; proteasome; protein degradation; protein dilution; protein synthesis; protein turnover; proteomics; superstatistical modeling; tandem fluorescent timer
    DOI:  https://doi.org/10.1016/j.cels.2025.101456
  8. Cell Stem Cell. 2025 Dec 23. pii: S1934-5909(25)00436-9. [Epub ahead of print]
      Embryo-maternal interaction is essential for post-implantation human development. While endometrial organoids have enabled in vitro modeling of the uterine environment, a fully integrated 3D co-culture system with human embryos has not been established. Here, we develop a physiologically relevant 3D platform that supports the co-culture of human embryos with endometrial organoids, enabling reciprocal embryo-maternal communication. This system sustains development to day 14 post-fertilization with structural and molecular fidelity to Carnegie stage landmarks, including yolk sac formation, primordial germ cell specification, and trophoblast maturation. Single-cell transcriptomics and functional assays reveal that the endometrial niche accelerates extravillous trophoblast emergence at day 9 post-fertilization and primes their invasive programs. Disruption of maternal signals, including human chorionic gonadotropin signaling blockade, markedly impairs embryonic progression. This co-culture system provides a powerful and tractable model to dissect human peri- and post-implantation development, with broad relevance to early pregnancy loss, placental biology, and reproductive medicine.
    Keywords:  Carnegie stage; embryo-endometrium interactions; endometrial organoids; extravillous trophoblast; fetal-maternal crosstalk; human blastocysts; human chorionic gonadotropin; human post-implantation development; primordial germ cell; syncytiotrophoblast
    DOI:  https://doi.org/10.1016/j.stem.2025.12.002
  9. Nat Commun. 2025 Dec 21.
      Growth deceleration before growth termination is a universal feature of growth during development. Transcriptomics analysis reveals that during their two-day period of growth deceleration, wing imaginal discs of Drosophila undergo a progressive metabolic shift from oxidative phosphorylation towards glycolysis. Ultra-sensitive reporters of HIF-1α stability and activity show that imaginal discs become increasingly hypoxic during development in normoxic conditions, suggesting that limiting oxygen supply could underlie growth deceleration. We confirm the expectation that rising levels of HIF-1α dampen TOR signalling activity through transcriptional activation of REDD1. Conversely, excess TOR leads, in a tissue-size-dependent manner, to hypoxia, which boosts HIF-1α levels and activity. Thus, HIF-1α mediates a negative feedback loop whereby TOR signalling triggers hypoxia, which in turn reduces TOR signalling. Abrogation of this feedback by Sima/HIF-1α knockdown leads to cellular stress, which is alleviated by reduced TOR signalling or a modest increase in environmental oxygen. We conclude that Sima/HIF-1α prevents TOR-mediated growth from depleting local oxygen supplies during normal development.
    DOI:  https://doi.org/10.1038/s41467-025-67089-6
  10. Mol Cell. 2025 Dec 22. pii: S1097-2765(25)00975-X. [Epub ahead of print]
      Oxidative phosphorylation (OXPHOS) fulfills energy metabolism and biosynthesis through the tricarboxylic acid (TCA) cycle and an intact electron transport chain (ETC). Mitochondrial glutamine import (MGI) replenishes the TCA cycle through glutaminolysis, but its broader roles in cancer remain unclear. Here, we show that MGI sustains OXPHOS independently of glutaminolysis by maintaining ETC integrity. Exogenous glutamate availability abrogates cellular dependence on glutaminolysis but not SLC1A5var-mediated MGI. Blocking MGI elicits severe mitochondrial defects, reducing mitochondrial glucose oxidation and increasing glutamine reductive carboxylation. MGI, but not glutaminolysis, is essential for mitochondrial translation by enabling biogenesis of Gln-mt-tRNAGln, the most limiting mitochondrial aminoacyl-tRNA in cancer cells. Finally, deleting SLC1A5 in mice and targeting SLC1A5var in xenograft tumors inhibit Gln-mt-tRNAGln biogenesis and mitochondrial translation and blunt tumor growth. Our findings uncover a previously unrecognized role of MGI in safeguarding ETC integrity independently of glutaminolysis and inform a therapeutic option by targeting MGI to abrogate OXPHOS for cancer treatment.
    Keywords:  SLC1A5var; glutamine; glutaminolysis; mitochondrial glutamine import; mitochondrial translation
    DOI:  https://doi.org/10.1016/j.molcel.2025.12.001
  11. bioRxiv. 2025 Dec 21. pii: 2025.12.19.695093. [Epub ahead of print]
      Transcription by RNA polymerase II (Pol II) requires the ordered action of general transcription factors (GTFs) forming the pre‑initiation complex (PIC). How these events unfold kinetically remains unclear. Upon transcription activation, we observe coordinated recruitment of Pol II and GTFs together with chromatin decompaction. Pol II and its Ser5‑phosphorylated form accumulate and persist at promoters, whereas TFIIB and TFIIF engage transiently, revealing distinct dynamic regimes. We find specific residence kinetics consistent with rapid exchange of GTFs and a more stable initiating Pol II population. A quantitative kinetic model recapitulates the temporal ordering and relative amplitudes of factor recruitment, predicts recruitment times, and links transient GTF engagement to sustained Pol II occupancy. Steady state measurements and transcription inhibition corroborate model predictions. These results uncover a dynamic hierarchy in human PIC assembly and establish a quantitative framework that connects factor exchange kinetics to the regulation of Pol II activity in living cells.
    DOI:  https://doi.org/10.64898/2025.12.19.695093
  12. Nat Methods. 2025 Dec 23.
      Understanding how neurons integrate signals from thousands of input synapses requires methods to monitor neurotransmission across many sites simultaneously. The fluorescent protein glutamate indicator iGluSnFR enables visualization of synaptic signaling, but the sensitivity, scale and speed of such measurements are limited by existing variants. Here we developed two highly sensitive fourth-generation iGluSnFR variants with fast activation and tailored deactivation rates: iGluSnFR4f for tracking rapid dynamics, and iGluSnFR4s for recording from large populations of synapses. These indicators detect glutamate with high spatial specificity and single-vesicle sensitivity in vivo. We used them to record natural patterns of synaptic transmission across multiple experimental contexts in mice, including two-photon imaging in cortical layers 1-4 and hippocampal CA1, and photometry in the midbrain. The iGluSnFR4 variants extend the speed, sensitivity and scalability of glutamate imaging, enabling direct observation of information flow through neural networks in the intact brain.
    DOI:  https://doi.org/10.1038/s41592-025-02965-z
  13. Proc Natl Acad Sci U S A. 2025 Dec 30. 122(52): e2519994122
      Unlike regeneration-competent species, mammals lack epimorphic regeneration capacity, except for the most distal part of their digits. Here, we show that E10.5 mouse embryos can initiate regeneration of their forelimb bud (FB), but this capacity is lost by E12.5. Using comparative transcriptomics and in vivo lineage tracing approaches in the mouse embryo, we were able to identify a population of neural crest-derived cells (NCdCs) reexpressing early NC lineage molecular markers, Wnt1 and Foxd3, specifically associated with regeneration at E10.5. Functional studies further reveal that these cells are required for FB regeneration and that the regenerative capacity lost in limb buds lacking NCdCs can be restored by exogenous transplantation of neural crest cells at E10.5. This work provides valuable information on the potential and prerequisites for regeneration in mammals.
    Keywords:  mouse embryo; neural crest cell; regeneration
    DOI:  https://doi.org/10.1073/pnas.2519994122
  14. Curr Biol. 2025 Dec 22. pii: S0960-9822(25)01607-0. [Epub ahead of print]
      Sex chromosome pairs, while carrying sex-determining genes, often exhibit marked structural heteromorphism due to extensive gene loss on the sex-specific chromosome. This heteromorphism generates a fundamental dosage imbalance in sex-linked gene expression, with one sex having one copy and the other two. To address this imbalance and equalize gene expression between the sexes, many species have evolved epigenetic-based, chromosome-wide dosage compensation (DC) mechanisms. While the molecular machinery governing such processes is well characterized in model organisms, the cause of sex-specific lethality due to compensation failure or naturally occurring X monosomy remains unknown. Here, we innovated Drosophila melanogaster genetic tools to investigate X chromosome DC in somatic organs. By implementing ∼150 cell-type-specific perturbations across developmental stages, we uncover cell populations requiring X chromosome DC for sex-specific survival to adulthood. Unexpectedly, DC is largely dispensable across many tissues and developmental stages, with the exception, among others, of the respiratory system during metamorphosis, where X chromosome DC determines adult stem cell viability. Furthermore, we demonstrate that cellular polyploidy confers insensitivity to X-dosage perturbations, providing a mechanistic explanation for cell-type-specific dispensability of DC. These findings reveal how X aneuploidy impairs development and highlight the initial cellular events leading to organismal death.
    Keywords:  Drososphila; Turner syndrome; X monosomy; chromosome; dosage compensation; polyploidy; respiratory stem cells; sex chromosomes; sex differences; sexual dimorphism
    DOI:  https://doi.org/10.1016/j.cub.2025.11.066
  15. Proc Natl Acad Sci U S A. 2025 Dec 30. 122(52): e2521561122
      Hypertrophic cardiomyopathy (HCM) is a leading cause of cardiac failure among individuals under 35. Many genetic mutations that cause HCM seem to enhance ventricular systolic function, suggesting that these HCM mutations are hypercontractile. Among the most common causes of HCM are mutations in the gene MYH7, which encodes for β-cardiac myosin, the principal human ventricular myosin. Previous work has demonstrated that, for purified myosins, some MYH7 mutations are gain-of-function while others cause reduced function, so how they lead to enhanced contractility is not clear. Here, we have characterized the mechanics and kinetics of the severe HCM-causing mutation M493I. Motility assays demonstrate a 70% reduction of actin filament gliding velocities on M493I-coated surfaces relative to wild type (WT). This mutation slows ADP release from actomyosin•ADP fivefold without affecting phosphate release or ATP binding. Yet it enhances steady-state ATPase Vmax twofold. Through single-molecule mechanical studies, we find that M493I myosin has a normal working stroke of 5 nm but a significantly prolonged actin attachment duration. Under isometric feedback, M493I myosins produce high, sustained force, with an actin detachment rate that is less sensitive to force than that of WT myosin. We also report direct measurement of the equilibrium state of the super-relaxed to disordered relaxed regulatory transition and show its disruption in M493I, with a concomitant enhancement to actin attachment kinetics. Together, these data demonstrate that enhanced myosin binding from inhibition of myosin's off state, combined with slow ADP release and enhanced force production, underlie the enhanced function and etiology of this HCM mutation.
    Keywords:  actomyosin; hypertrophic myopathy; myosin; optical trap; super-relaxed state
    DOI:  https://doi.org/10.1073/pnas.2521561122
  16. bioRxiv. 2025 Dec 15. pii: 2025.12.12.694052. [Epub ahead of print]
      Hematopoietic stem cells (HSCs) must preserve protein homeostasis (proteostasis) despite dramatic changes in proliferative and biosynthetic demands during development, yet how proteostasis is regulated across these transitions is poorly understood. Here, we show that fetal and neonatal HSCs operate through distinct, stage-specific proteostasis programs that differ fundamentally from those in adulthood. Using quantitative in vivo assays spanning embryonic through adult stages, we uncover an unanticipated decoupling between protein synthesis and protein quality control during development, revealing that fetal and neonatal HSCs employ specialized mechanisms to safeguard proteome integrity under developmental stress. Developing HSCs experience a distinctive proteostasis landscape characterized by elevated protein synthesis, increased unfolded protein burden, and selective engagement of stress-buffering and protein degradation pathways that are largely dispensable in young adult HSCs. Disruption of these pathways compromises early life HSC function and long-term fitness, establishing proteostasis control as a key regulator of stem cell maturation. These findings define previously unrecognized mechanisms by which HSCs manage the proteome during early life and reveal fundamental principles governing stem cell proteostasis across ontogeny.
    DOI:  https://doi.org/10.64898/2025.12.12.694052
  17. J Biol Chem. 2025 Dec 20. pii: S0021-9258(25)02933-3. [Epub ahead of print] 111081
      Extrachromosomal DNA (ecDNA) is linked to aggressive cancer growth, treatment resistance, and shorter survival across a wide variety of cancers. ecDNA promotes intratumoral genetic heterogeneity, enhanced oncogene expression, and accelerated tumor evolution, driving tumor pathogenesis. ecDNA lack centromeres and segregate to daughter cell nuclei during mitosis by tethering to chromosomes. However, the mechanisms involved in this tethering are incompletely understood. Here, I present evidence that ecDNA tethering to chromosomes is coupled to chromatin compaction during mitotic chromosome formation, which acts to generally increase chromatin-chromatin interaction. Using a cancer cell line model, I show that decompacting mitotic chromatin under hypotonic conditions and by increasing histone acetylation untethers ecDNA from chromosomes, leading to their mis-segregation into micronuclei after mitosis. Additionally, overexpression of the mitotic chromosome surfactant Ki67 untethers ecDNA from chromosomes, leading to their mis-segregation into micronuclei. These findings show that the mechanisms involved in chromatin compaction are important for tethering ecDNA to chromosomes and preventing their mis-segregation into micronuclei. I propose a model in which interactions between ecDNA chromatin fibers and chromosomal chromatin contribute to ecDNA segregation into daughter cells during cell division.
    Keywords:  HDAC; Ki67; chromatin compaction; extrachromosomal DNA; micronuclei; mitosis
    DOI:  https://doi.org/10.1016/j.jbc.2025.111081
  18. Mol Cell. 2025 Dec 19. pii: S1097-2765(25)00971-2. [Epub ahead of print]
      Histone modifications play crucial roles in genome function. However, how chromatin integrates physiological and metabolic responses at the molecular level remains largely unknown. Acetylation of histone H4 lysine 16 (H4K16ac) is unique, as it directly regulates chromatin architecture. Here, we investigated the roles of two additional H4K16 short-chain acylations, propionylation (H4K16pr) and butyrylation (H4K16bu), in chromatin architecture and transcriptional regulation. We demonstrate distinct in vitro effects of H4K16 acylations on chromatin structure, including inter- and intra-nucleosomal interactions. Utilizing a mouse model of the metabolic disease propionic acidemia, we reveal a transcriptional response concomitant with changes in H4K16 acylations in vivo. Our work suggests the importance of simultaneous action of histone acylations for transcriptional robustness through effects on nucleosomal interactions. We propose that this mode of action distinguishes H4K16 acylations from other modifications that also differ by one carbon, such as methylations.
    Keywords:  H4K16 acylations; chromatin dynamics; metabolic challenge
    DOI:  https://doi.org/10.1016/j.molcel.2025.11.030
  19. Nat Commun. 2025 Dec 21.
      The mechanism underlying the establishment of human endometrial receptivity remains elusive, constituting a significant obstacle to advancing our knowledge of female infertility. Via integrating high-resolution spatiotemporal and single-cell transcriptomic profiling and in situ sequencing, we construct a spatiotemporal atlas of human endometrial receptivity at single-cell resolution. Our study depicts detailed spatial molecular topography governing the opening and closing of human endometrial receptivity. Notably, the results indicate that stromal-specific NR2F1, CEBPD and epithelial-specific SGK1, KLF5 and ELF3 are closely associated with the opening of implantation window. Furthermore, cholesterol metabolism is found to promote ciliogenesis. Remarkably, we identify stroma- and epithelium-specific factors and unravel a previously unappreciated role of FGFs-FGFR2 signaling pathway mediating stroma-epithelium crosstalk in epithelial differentiation during the onset of receptivity. This spatiotemporally resolved receptivity code provides insights into the female fertility, with potential implications for the intervention of female infertility.
    DOI:  https://doi.org/10.1038/s41467-025-67492-z
  20. bioRxiv. 2025 Dec 11. pii: 2025.12.08.693069. [Epub ahead of print]
      Embryonic cells must interpret morphogen signals that vary in both time and space, but the rules by which they decode these dynamics remain unclear. Here we combine optogenetics with human 2D gastruloids to define minimal WNT signaling rules for germ-layer patterning. We block endogenous WNT secretion to create a "blank canvas" and reconstitute signaling using light-gated LRP6. Systematic temporal scans reveal a narrow competence window when the onset and duration of WNT signaling specify mesoderm; this window is shifted by cell density and amplified by BMP priming, whereas identical WNT inputs outside it invert germ-layer order or generate alternative mesodermal subtypes. Using micromirror-based illumination, we restricted WNT activation to a mid-ring during this temporal window; combined with BMP4, this fully restored germ layer domains with boundaries sharper than those generated by ligand stimulation. Thus, precise spatiotemporal control of a single pathway is sufficient to optically rebuild germ-layer architecture and reveals WNT as a temporal morphogen.
    DOI:  https://doi.org/10.64898/2025.12.08.693069
  21. Cell Rep. 2025 Dec 19. pii: S2211-1247(25)01520-7. [Epub ahead of print]45(1): 116748
      Human early development is challenging to study due to limited samples and cell numbers. The emergence of 8-cell-stage (8C) embryo-like cells (8CLCs) offers new opportunities to understand embryonic genome activation (EGA) in humans. Our research compares and characterizes 8CLCs from various stem cell-based systems to determine how well these models reflect human early embryonic development. Using single-cell RNA sequencing datasets from multiple studies, we integrate data to identify key gene co-expression modules, transposable element expression, and biological processes recapitulated in 8CLCs. We identify both mature and intermediate 8CLCs, with the Yoshihara and Mazid datasets best representing 8C embryos. 8CLCs show remodeling in energy and RNA metabolism, regulation of RNA splicing, and ribosome biogenesis, mirroring human 8C embryos. Our findings underscore the importance of distinguishing mature 8CLCs from partially reprogrammed cell states to improve their use as models for human EGA.
    Keywords:  8-cell-stage embryo-like cell; CP: developmental biology; CP: stem cell research; single-cell transcriptomics
    DOI:  https://doi.org/10.1016/j.celrep.2025.116748
  22. Mol Cell. 2025 Dec 19. pii: S1097-2765(25)00969-4. [Epub ahead of print]
      Accurate control of transgene expression is important for research and therapy but is challenging to achieve in most settings. MicroRNA (miRNA)-based regulatory circuits can be incorporated within transgenes for improved control. However, the design principles, performance limits, and applications of these circuits in research and biotechnology have not been systematically determined. Here, combining modeling and experiments, we introduce miRNA-based circuit modules, termed "dosage invariant miRNA-mediated expression regulators" (DIMMERs), that establish precise, tunable control of transgene expression across diverse cell types to facilitate imaging, editing, and gene therapy. The circuits use multivalent miRNA regulatory interactions to achieve nearly uniform, tunable protein expression over two orders of magnitude variation in gene dosage. They function across diverse cell types and can be multiplexed for the independent regulation of multiple genes. DIMMERs reduce off-target CRISPR base editing, improve single-molecule imaging, and allow live tracking of adeno-associated virus (AAV)-delivered transgene expression in mouse cortical neurons. DIMMERs thus enable accurate regulation for research and biotechnology applications.
    Keywords:  dosage compensation; gene therapy; microRNA; multispecific regulation; precise gene expression control; synthetic biology
    DOI:  https://doi.org/10.1016/j.molcel.2025.11.028
  23. Structure. 2025 Dec 19. pii: S0969-2126(25)00477-0. [Epub ahead of print]
      The epidermal growth factor receptor (EGFR) was among the first receptor tyrosine kinases (RTKs) shown to be activated by ligand-induced dimerization. Structural studies explain how ligand binding induces the dimerization of EGFR's extracellular region. Unlike other RTKs, EGFR's intracellular tyrosine kinase domain (TKD) is activated allosterically in an asymmetric dimer that is observed crystallographically, but not in cryo-EM studies of intact EGFR. Here, we show that this asymmetric TKD dimer forms only transiently - explaining its lack of definition by cryo-EM. By engineering an asymmetric TKD dimer and studying a TKD-duplicated lung cancer EGFR variant, we show that TKD dimerization increases kinase activity by several hundred-fold. We were also able to stabilize and visualize discrete asymmetric EGFR TKD dimers at high resolution using cryo-EM. Our findings argue that oncogenic mutations activate EGFR primarily by promoting TKD dimerization, and suggest that the transient nature of EGFR TKD dimers may allow biased EGFR signaling.
    Keywords:  cancer; dimerization; epidermal growth factor receptor; growth factor signaling; oncogenic mutation; protein conformation; receptor tyrosine kinases
    DOI:  https://doi.org/10.1016/j.str.2025.11.017
  24. Cell. 2025 Dec 24. pii: S0092-8674(25)01369-8. [Epub ahead of print]
      Mechanisms of adaptation of regulatory T cells (Tregs) to harsh tumor metabolic microenvironments for suppression of anti-tumor immunity remain largely unclear. Here, using spatial metabolomics and transcriptomics, we show that human hepatocellular carcinoma harbored metabolically heterogeneous subregions characterized by high glutaminolysis and ammonia contents, where Tregs were frequently present but CD8+ and CD4+ effector T cells die. We found Tregs used the urea cycle to detoxify ammonia by upregulating argininosuccinate lyase (ASL); meanwhile, ammonia was also converted to spermine by the FOXP3 transcription factor regulated spermine synthase (SMS). A direct interaction between spermine and PPARγ was verified by X-ray crystallography, leading to comprehensively modulating the transcription of multiple mitochondrial complex proteins to enhance oxidative phosphorylation and immunosuppression of Tregs. Clinically, anti-PD-1-treated dying tumor cells used transdeamination to release ammonia, which reinforced Treg function, leading to immunotherapeutic resistance. Targeting ammonia production to suppress Tregs presents a potential strategy for anti-tumor immunotherapy.
    Keywords:  Tregs; ammonia; cancer immunotherapy; glutaminolysis; metabolic adaptation; polyamine metabolism; urea cycle
    DOI:  https://doi.org/10.1016/j.cell.2025.11.034
  25. bioRxiv. 2025 Dec 18. pii: 2025.12.17.694926. [Epub ahead of print]
      The formation of RNA-DNA hybrid (RDH) primers by primase is an essential step in the recruitment of DNA polymerase during replication initiation and for the synthesis of each Okazaki fragment on the lagging strand. In addition to primers, RDHs form through misincorporation of ribonucleotides by DNA polymerase during elongation and by formation of R-loops during transcription. R-loops are three-stranded structures that form when the nascent mRNA anneals to the template DNA strand, displacing the complementary DNA strand. The persistence of RDHs is deleterious to genome stability in all cells because they increase susceptibility to mutations, impaired replication fork progression, DNA double-stranded breaks, and genomic rearrangements. In many bacteria, it is well established that components of the replicative DNA polymerase form a macromolecular complex that can be imaged using single-molecule or ensemble fluorescence approaches. The spatiotemporal regulation of proteins involved in RDH removal during lagging-strand maturation is less clear. Here, we study three proteins that are involved in the removal of RDHs from the lagging strand during DNA replication in the Gram-positive bacterium Bacillus subtilis : DNA polymerase I (Pol I), FenA, and RNase HIII. We characterized the behavior of each PAmCherry-tagged lagging-strand enzyme in living cells using single-particle tracking photactivated localization microscopy. In this work, we find that all three proteins are highly mobile, suggesting residence times at their target substrates are below our temporal resolution. We also find evidence that Pol I activity is modulated through interaction with the replisome, whereas FenA and RNase HIII are regulated through access to the nucleoid. Our results provide new insight into how enzymes are recruited to resolve RDHs during lagging-strand replication in vivo .
    Significance: RNA-DNA hybrids (RDHs) are essential, transient intermediates in DNA replication, yet their presence significantly increases the susceptibility of the genome to damage. We characterized the single-molecule behavior of three proteins important for processing RDHs in Okazaki fragments in living bacteria. We find that enzyme activity is modulated by access to the replisome and nucleoid. Specifically, we find that DNA polymerase I is preferentially localized to the replisome, while FenA and RNase HIII dwell times at the replisome are very short and below our detection limit. Our work shows that Pol I, FenA, and RNase HIII turn over rapidly in cells, providing new insight into how lagging-strand replication is coordinated in vivo .
    DOI:  https://doi.org/10.64898/2025.12.17.694926
  26. Cell Metab. 2025 Dec 22. pii: S1550-4131(25)00527-3. [Epub ahead of print]
      Under normoxia, von Hippel-Lindau (VHL) protein targets the oxygen-induced, hydroxylated α subunits of hypoxia-inducible factors (HIFs) for degradation to orchestrate mammalian oxygen sensing. However, whether VHL plays non-canonical roles in hypoxia, when protein hydroxylation is attenuated, remains elusive. Here, we show that most cytosolic VHL is degraded under chronic hypoxia, with the remaining VHL pool primarily translocating to the mitochondria. Mitochondrial VHL binds and inhibits 3-methylcrotonyl-coenzyme A carboxylase subunit 2 (MCCC2), an essential subunit of the leucine catabolic machinery. Accumulated leucine allosterically activates glutamate dehydrogenase to promote glutaminolysis, generating sufficient lipids and nucleotides to support hypoxic cell growth. Furthermore, SRC-mediated VHL phosphorylation and protein arginine methyltransferase 5 (PRMT5)-mediated MCCC2 methylation synergistically regulate the VHL-MCCC2 interaction and concomitant metabolic changes, which are recapitulated in animal models of ischemic injury and functionally associated with VHL mutations in cancer. Our study highlights VHL as a bona fide regulator of hypoxic metabolism within mitochondria, rather than a solely "standby adaptor" for HIFs under hypoxia.
    Keywords:  VHL; hypoxia; leucine; metabolism; mitochondria
    DOI:  https://doi.org/10.1016/j.cmet.2025.11.013