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Minucci, S.

Publications and source records attributed to Minucci, S..

14 recordsLinked to original sources

Cell cycle control of chromatin creates a therapeutic window for epigenetic therapy in tumors

The relationship between cell cycle length and differentiation competence is well established in developmental biology, particularly in embryonic stem cells, where a short G1 phase maintains pluripotency and G1 lengthening permits lineage commitment. Whether this principle operates in cancer cells, where the cell cycle is deregulated and G1 is frequently shortened, and whether it can be pharmacologically exploited for therapy, has not been tested. Here we show that the duration of G1 is a causal determinant of chromatin state in cancer cells and that extending G1 creates a therapeutic window for epigenetic drugs. Using acute myeloid leukemia (AML) as a model, we demonstrate that low-dose palbociclib, at concentrations well below those required for cytostatic arrest, extends G1 without halting proliferation. This modest prolongation reshapes the histone modification landscape: repressive marks (H3K9me2/3, H4K20me2/3) increase while acetylation decreases, and chromatin accessibility rises broadly in the euchromatic compartment. Naturally slow-cycling AML lines share this epigenetic signature regardless of their oncogenic driver mutations, and pharmacologically extending G1 in fast-cycling cells recapitulates it, establishing G1 length as a causal regulator of the cancer epigenome rather than a passive correlate. To identify epigenetic vulnerabilities created by G1 extension, we performed complementary drug and CRISPR-Cas9 screens in G1-extended AML cells. Both approaches converged on LSD1 (KDM1A): slow-cycling AML cells are intrinsically sensitive to LSD1 inhibition, while fast-cycling cells become sensitive when G1 is prolonged. The combination of low-dose palbociclib and LSD1 inhibition triggers differentiation and significantly prolongs survival in AML xenograft models. p21 (CDKN1A) emerges as the central molecular determinant of this response. In slow-cycling AML cells, p21 is highly expressed and its knockdown abolishes LSD1 inhibitor sensitivity. Structure-function analysis using p21 mutants separates the two known activities of p21: the CDK-inhibitory function (which extends G1) is required for sensitization, whereas the PCNA-binding function is dispensable. Three pharmacological routes converge on the same endpoint, CDK inhibition, G1 extension, and a differentiation-competent chromatin state: direct CDK4/6 inhibition by palbociclib, p21 overexpression, and p21 induction through HDAC or EZH1/2 inhibitors. Palbociclib bypasses the requirement for p21 entirely, confirming that G1 length itself, not p21 as a protein, is the critical variable. Mechanistically, the combination of G1 extension and LSD1 inhibition produces a qualitatively distinct chromatin state rather than an additive one. ATAC-seq reveals thousands of combination-exclusive accessible regions, enriched for footprints of myeloid differentiation transcription factors including SPI1/PU.1, IRF1, and STAT1/2. A double-lock principle governs this remodeling: palbociclib drives the removal of repressive marks (H3K9me3 and H3K27me3), while LSD1 inhibition installs active marks at the newly accessible regions. The ncBAF chromatin remodeling complex, identified in our CRISPR screen and validated by knockout of its essential subunits BRD9 and SMARCD1, is specifically required for this response. Loss of ncBAF abolishes the combination-induced chromatin remodeling and differentiation program but does not affect the initial G1 extension or retinoic acid-induced differentiation, indicating that ncBAF specifically couples cell-cycle modulation to chromatin remodeling rather than acting as a general differentiation factor. The principle generalizes beyond AML. In melanoma, breast cancer, and small-cell lung cancer (SCLC), sensitivity to LSD1 inhibition tracks with p21 expression and cycling speed. Primary melanoma samples stratified by p21 recapitulate the same pattern: p21-high, slow-cycling cells are sensitive; p21-low, fast-cycling cells are resistant but can be sensitized by palbociclib cotreatment. Cisplatin-induced drug-tolerant persister (DTP) cells, which emerge as a slow-cycling, chemo-resistant population and upregulate both p21 and LSD1, become vulnerable to LSD1 inhibition and are eradicated by the combination. In melanoma patient-derived xenograft (PDX) models, p21-high tumors respond to LSD1 inhibitor monotherapy, while p21-low tumors are sensitized by palbociclib cotreatment, with p21 knockdown abolishing the response. Together, these findings establish cell-cycle duration as a tunable regulator of the cancer epigenome and demonstrate that pharmacological G1 extension converts cytostatic CDK4/6 inhibition into an epigenetic sensitization strategy. Both fast-proliferating and slow-cycling tumor compartments (including drug-resistant persisters) can be targeted by matching the epigenomic state to the appropriate combination of cell-cycle modulators and epigenetic drugs. p21 emerges as a candidate biomarker for patient stratification. More broadly, our work repositions the cell cycle from a passive conduit for proliferation signals to an active, druggable regulator of chromatin fate, with implications that extend from cancer therapy to stem cell biology and regenerative medicine.

cancer biology↗

Spatiotemporal atlas of pro-inflammatory (NF-kB) and anti-inflammatory (STAT6) signalling using reporter mice during mRNA vaccination

The immunization process unfolds through a precisely orchestrated sequence of innate and adaptive events across distinct anatomical sites. Although many mechanisms underlying vaccination are well described, most vaccines have been developed empirically, partly due to the lack of tools enabling rapid, organ-specific analysis of immune activation. To address this gap, we developed and validated a novel STAT6 reporter mouse enabling dynamic in vivo whole-body imaging and ex vivo analysis of STAT6-mediated anti-inflammatory signalling, and combined it with an established NF-{kappa}B reporter model to dissect immune activation induced by two LNP-encapsulated mRNA vaccines encoding the same antigen but differing in RNA chemistry (unmodified versus N{superscript 1}-methyl-pseudouridine (m{superscript 1}{Psi})-modified). This dual-reporter system enabled the creation of a spatiotemporal atlas of vaccine-induced signalling, revealing chemistry-dependent immune dynamics and identifying the liver as a predominant early hub for both NF-{kappa}B and STAT6 activity following systemic administration. Integration with antibody measurements demonstrated that early STAT6 activation followed by rapid signal resolution--rather than prolonged NF-{kappa}B-mediated inflammation--correlated with robust humoral responses, suggesting that monitoring NF-{kappa}B and STAT6 dynamics could provide predictive insight into vaccine immunogenicity. Together, these findings establish NF-{kappa}B and STAT6 reporter mice as rapid in vivo screening tools for the early assessment of vaccine immunogenicity and performance. By enabling dynamic, organ-resolved immune profiling, this approach paves the way for more rational, mechanism-driven design of mRNA vaccines and underscores the importance of further investigating the effects of vaccines on the liver, both as a primary LNP target and as an immunologically tolerogenic organ.

immunology↗

LSD1 serine 166 is a phosphorylation switch for chromatinlandscaping, gene activation, and tissue remodeling

LSD1 is a histone 3 (H3) demethylase that can either repress or activate gene expression. We discover here that the so far enigmatic balance between these two activities in non-hormonal cancer cells is regulated by phosphorylation of serine 166 (S166) on LSD1. SET-mediated Protein Phosphatase 2A (PP2A) inhibition in KRAS mutant cells promotes S166 phosphorylation. Endogenous LSD1 S166 alanine mutant (S166A) cells display H3 lysine 9 demethylation and acetylation, euchromatin, and gene activation. Mechanistically this is explained by the impaired interaction of S166A mutant LSD1 with repressor proteins SNAI2 and MYBP1. Functionally LSD1 S166A mutant cells display augmented beta1 integrin activity and stress fiber formation, and the mutant xenograft tumors have altered tumor microenvironment associated with increased macrophage recruitment. Collectively, PP2A-regulated S166 of LSD1 is a phosphorylation switch for epigenetic gene activation in non-hormonal cancer cells. Conceptually we demonstrate how dephosphorylation of one amino acid on a non-histone protein shapes chromatin landscape in cancer cells, and modify tumor stroma, and immune cell content. Highlights* Mechanism for gene activation by LSD1 in non-hormonal cancers * Single phosphorylation switch in a non-histone protein controls epigenetic landscape * Epigenetic protein phosphorylation in cancer cells shapes tumour immune microenvironment * Novel function for Protein Phosphatase 2A (PP2A) in epigenome regulation via LSD1 Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=185 SRC="FIGDIR/small/653937v1_ufig1.gif" ALT="Figure 1"> View larger version (54K): org.highwire.dtl.DTLVardef@19548b3org.highwire.dtl.DTLVardef@1d7fd4dorg.highwire.dtl.DTLVardef@13707b3org.highwire.dtl.DTLVardef@1da7b71_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗

Automated workflow for the cell cycle analysis of non-adherent and adherent cells using a machine learning approach

Understanding the details of the cell cycle at the level of individual cells is critical for both cellular biology and cancer research. While existing methods using specific fluorescent markers have advanced our ability to study the cell cycle in cells that adhere to surfaces, there is a clear gap when it comes to non-adherent cells. In this study, we combine a specialized surface to improve cell attachment, the genetically-encoded FUCCI(CA)2 sensor, an automated image processing and analysis pipeline, and a custom machine-learning algorithm. This combined approach allowed us to precisely measure the duration of different cell cycle phases in non-adherent cells. Our method provided detailed information from hundreds of cells under different experimental conditions in a fully automated manner. We validated this approach in two different Acute Myeloid Leukemia (AML) cell lines, NB4 and Kasumi-1, which have unique cell cycle characteristics. Additionally, we tested the impact of drugs affecting the cell cycle in NB4 cells. Importantly, our cell cycle analysis system is freely available and has also been validated for use with adherent cells. In summary, this report introduces a comprehensive, automated method for studying the cell cycle in both adherent and non-adherent cells, offering a valuable tool for cancer research and drug development.

cell biology↗

LSD1 inhibition improves efficacy of adoptive T cell therapy by enhancing CD8+ T cell responsiveness.

The lysine-specific histone demethylase 1A (LSD1) has been described to play a role in antitumor immunity; however, the role of LSD1 in shaping CD8+ T cell (CTL) differentiation and function is not understood. Here, we showed that pharmacological inhibition of LSD1 (LSD1i) in CTL elicited phenotypic and functional alterations of the CTL that led to robust antitumor immunity in the context of adoptive T cell therapy (ACT). In addition, the combination of anti-PDL1 therapy with LSD1i-based ACT resulted in a complete tumor eradication and long-lasting tumor-free survival. This study demonstrated that LSD1i together with anti-PDL1 therapy complement each others deficiencies and produce a better tumor response in a melanoma model, in which both immune and epigenetic therapy alone have shown limited efficacy. Collectively, these results set the translational potential of modulating LSD1 to improve antitumoral responses generated by ACT and anti-PDL1 therapy, which provide a strong rationale for a combination trial of LSD1i and immunotherapy.

immunology↗

Age-dependent ventilator-induced lung injury: Mathematical modeling, experimental data, and statistical analysis

A variety of pulmonary insults can result in the necessity for mechanical ventilation, which, when misused, used for prolonged periods of time, or associated with an excessive inflammatory response, can result in ventilator-induced lung injury. Older patients have been observed to have an increased risk for respiratory distress with ventilation and more recent studies suggest that this could be linked to disparities in the inflammatory response. To address this, we ventilated young (2-3 months) and old (20-25 months) mice for 2 hours using high pressure mechanical ventilation and extracted data for inflammatory cell ratios, namely macrophage phenotypes, and lung tissue integrity. A large difference in naive macrophages at baseline, alternatively-activated (M2) macrophages at baseline, and airspace enlargement after ventilation was observed in the old mice. The experimental data was used to fit a mathematical model for the inflammatory response to lung injury. Model variables include inflammatory markers and cells, namely neutrophils and macrophages, epithelial cells at varying states, and repair mediators. Parameter sampling was performed using an iterative sampling method and parameter sets were selected based on their ability to fit either the old or young macrophage phenotype percentages and epithelial variables at zero and two hours. Classification methods were performed to identify influential parameters separating the old and young parameter sets as well as user-defined health states. Parameters involved in repair and damage to epithelial cells and parameters regulating the pro-inflammatory response were shown to be important. Local sensitivity analysis preformed for the different epithelial cell variables produced similar results. A pseudo-intervention was also performed on the parameter sets. The results were most influential for the old parameter sets, specifically those with poorer lung health. These results indicate potential targets for therapeutic interventions prior to and during ventilation, particularly for old subjects. Author summaryA variety of inhaled pathogens and other pulmonary insults prompt the need for mechanical ventilation; a procedure that has become increasingly necessary following the 2019 coronavirus pandemic. A proportion of patients respond poorly to ventilation, some resulting in ventilator-induced lung injury. Observational data has shown increased instance of severe disease in older patients as well as differences in the inflammatory response to injury, although more research is needed to confirm this. We performed high-pressure ventilation on young (2-3 months) and old (20-25 months) mice and observed large disparities in inflammatory cell ratios at baseline and lung tissue integrity after ventilation. The experimental data was then used to fit a mathematical model of the inflammatory response to lung injury. We used a variety of analysis methods to identify important parameters separating the young and old parameter sets and user-defined health states of the resulting simulations. Parameters involved in damage and repair of epithelial cells in the lung as well as parameters controlling the pro-inflammatory response to injury were important in both classifying between old and young sets and determining predicted health after ventilation. These results indicate potential targets for therapeutic interventions prior to and during ventilation.

systems biology↗

A refined single cell landscape of haematopoiesis in the mouse foetal liver

During prenatal life, the foetal liver is colonised by several waves of haematopoietic stem and progenitor cells (HSPCs) to act as the main haematopoietic organ. Single cell (sc) RNA-seq has been used to identify foetal liver cell types via their transcriptomic signature and to compare gene expression pattern as haematopoietic development proceeds. To obtain a refined single cell landscape of haematopoiesis in the foetal liver, we have generated a novel scRNA-seq dataset from whole mouse E12.5 liver that includes a larger number of cells than prior datasets at this stage and was obtained without cell type preselection to include all liver cell populations. We combined mining of this dataset with that of previously published datasets at other developmental stages to follow transcriptional dynamics as well as cell cycle state of developing haematopoietic lineages. Our findings corroborate several prior reports on the timing of liver colonisation by HSPCs and the emergence of differentiated lineages and provide further molecular characterisation of each cell population. Extending these findings, we demonstrate the existence of a foetal intermediate haemoglobin profile in the mouse, similar to that previously identified in humans, and a previously unidentified population of primitive erythroid cells in the foetal liver.

developmental biology↗

Metformin antiproliferative activity is exclusively mediated by the membrane functional expression of the Chloride Intracellular Channel 1 in glioblastoma stem cells

Metformin is the first-line drug for type-2 diabetes. Retrospective analyses, based on diabetic patients clinical data, demonstrate that daily assumption of metformin reduces the incidence of several kinds of solid tumors. Even though it is widely agreed that metformin must be internalized to accomplish its pharmacological activity, direct evidence about metformin membrane permeability and/or the presence of a specific membrane receptor in cancer cells is still missing. Here, we show that the transmembrane form of Chloride Intracellular Channel 1 (tmCLIC1) works as a privileged metformin receptor in glioblastoma stem-like cells. We found that metformin impairs tmCLIC1 activity by a specific binding coordinated by arginine 29. Its mutation, preventing metformin to bind and block tmCLIC1, abolishes the biguanide inhibition of glioblastoma cell proliferation in 2D and 3D models and metformin dependent effect on mitochondrial respiration. In addition, we demonstrate the direct binding between the drug and its target, and by in vivo experiments on zebrafish embryos and mice orthotopically engrafted with glioblastoma cells and treated with metformin, we prove that metformin binding to tmCLIC1 is crucial for metformin antineoplastic effect. Considering tmCLIC1s contribution to glioblastoma progression, the present work provides the fundaments for future development of strategies aimed at improving metformin-tmCLIC1 interaction to further increase metformin therapeutic potential.

cancer biology↗

Goat PRP14 (gPRP14) has xeno-antigenic properties and works as a vaccine in preclinical models of cancer.

We studied the activity of recombinant goat PRP14 (gPRP14), a member of the RID protein family, as a xeno-antigen in preclinical models of cancer. Antisera from rabbits and mice immunized with gPRP14 showed strong reactivity against several tumor cell types, which was absent towards normal cells: the tumor selectivity was related to surface and intra-cellular expression in tumor cells, and to an exclusively intra-cellular localization in normal cells. In vitro, binding to tumor cells was followed by cytotoxicity which could be rescued by the addition of excess soluble antigen. In vivo, an anti-tumor activity of immunization with gPRP14 was observed in murine syngeneic models of breast cancer and melanoma: the anti-tumor response was present when gPRP14 was administered in a preventive setting, and persisted upon repeated challenges with tumor cells in long-term survivor mice. Finally, we showed that both the humoral and T-cell mediated responses are needed for the optimal anti-tumor effect in the murine melanoma model. Thus, we have performed an initial characterization of gPRP14 as a cancer vaccine, which -given the potential wide range of tumor cells positive for the antigen-appears as a promising, novel immunotherapy.

cancer biology↗

Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

The heterogeneity and evolution of AML blasts can render therapeutic interventions ineffective in a yet poorly understood patient-specific manner. To gain insight into the clonal heterogeneity of diagnosis (Dx) and relapse (Re) pairs, we employed whole-exome sequencing and single-cell RNA-seq to longitudinally profile two t(8;21) (AML1-ETO = RUNX1-RUNX1T1), and four FLT3-ITD AML cases. The single cell RNA data underpinned the tumor heterogeneity amongst patient blasts. The Dx-Re transcriptomes of high risk FLT3-ITD pairs formed a continuum from extensively changed in the absence of significantly mutational changes in AML-associated genes to rather similar Dx-Re pair of an intermediate risk FLT3-ITD. In one high risk FLT3-ITD pair, a pathway switched from an AP-1 regulated network in Dx to mTOR signaling in Re. The distinct AML1-ETO pairs comprise clusters that share genes related to hematopoietic stem cell maintenance and cell migration suggesting that the Re leukemic stem cell-like (LSC-like) cells probably evolved from the Dx LSC-like cells. In summary, our study revealed a continuum from drastic transcriptional changes to extensive similarities between respective Dx-Re pairs that are poorly explained by the well-established model of clonal evolution. Our results suggest alternative and currently unappreciated and unexplored mechanisms leading to therapeutic resistance and AML recurrence.

cancer biology↗

Inhibiting LSD1 suppresses coronavirus-induced inflammation but spares innate antiviral activity

Tissue-resident macrophages exert critical but conflicting effects on the progression of coronavirus infections by secreting both anti-viral type I Interferons and tissue-damaging inflammatory cytokines. Steroids, the only class of host-targeting drugs approved for Covid19, indiscriminately suppress both responses, possibly impairing viral clearance, and provide limited clinical benefit. Here we set up a mouse in vitro co-culture system that reproduces the macrophage response to SARS-CoV2 seen in patients and allows quantitation of inflammatory and antiviral activities. We show that the NFKB-dependent inflammatory response can be selectively inhibited by ablating the lysine-demethylase LSD1, which additionally unleashed interferon-independent ISG activation and blocked viral egress through the lysosomal pathway. These results provide a rationale for repurposing LSD1 inhibitors, a class of drugs extensively studied in oncology, for Covid-19 treatment. One-Sentence SummaryTargeting a chromatin-modifying enzyme in coronavirus infections curbs tissue-damage without affecting antiviral response

immunology↗

Pharmacological inhibition of LSD1 triggers myeloid differentiation by targeting GSE1, a novel oncogene in AML

The histone de-methylase LSD1 is over-expressed in haematological tumours and has emerged as a promising target for anti-cancer treatment, so that several LSD1 inhibitors are under development and testing, in pre-clinical and clinical settings. However, the complete understanding of their complex mechanism of action is still unreached. Here, we unravelled a novel mode of action of the LSD1 inhibitors MC2580 and DDP-38003, showing that they can induce differentiation of AML cells through the down-regulation of the chromatin protein GSE1. Analysis of the phenotypic effects of GSE1 depletion in NB4 cells showed a strong decrease of cell viability in vitro and of tumour growth in vivo. Mechanistically, we found that a set of genes associated with immune response and cytokine signalling pathways are up-regulated by LSD1 inhibitors through GSE1 protein reduction and that LSD1 and GSE1 co-localise at promoters of a subset of these genes at the basal state, enforcing their transcriptional silencing. Moreover, we show that LSD1 inhibitors lead to the reduced binding of GSE1 to these promoters, activating transcriptional programs that trigger myeloid differentiation. Our study offers new insights on GSE1 as a novel therapeutic target for AML.

cancer biology↗

Single cell derived organoids capture the self-renewing subpopulations of metastatic ovarian cancer

High Grade Serous Ovarian cancer (HGSOC) is a major unmet need in oncology, due to its precocious dissemination and the lack of meaningful human models for the investigation of disease pathogenesis in a patient-specific manner. To overcome this roadblock, we present a new method to isolate and grow single cells directly from patients ascites, establishing the conditions for propagating them as single-cell derived ovarian cancer organoids (scOCOs). By single cell RNA sequencing (scRNAseq) we define the cellular composition of metastatic ascites and trace its propagation in 2D and 3D culture paradigms, finding that scOCOs retain and amplify key subpopulations from the original patients samples and recapitulate features of the original metastasis that do not emerge from classical 2D culture, including retention of individual patients specificities. By enabling the enrichment of uniquely informative cell subpopulations from HGSOC metastasis and the clonal interrogation of their diversity at the functional and molecular level, this method transforms the prospects of precision oncology for ovarian cancer.

cancer biology↗

Prolyl Endopeptidase (PREP) is Involved in the Reproductive Functions and Cytoskeletal Organization in Rat Spermatogenesis and in Mammalian Sperm.

Prolyl endopeptidase (PREP) is an enzyme which cleaves several peptide hormones and neuropeptides at the carboxyl side of proline residues, involved in many biological processes, including cell proliferation and differentiation, glucose metabolism, learning, memory and cognitive disorders. Moreover, PREP was identified as binding partner of tubulin, suggesting that this endopeptidase may be involved in microtubule-associate processes, independent of its peptidase activity. Several reports have also suggested PREP participation in both male and female reproduction-associated processes. In this work, we assessed the possible association of PREP with the morphogenesis of rat testis, profiling its localization versus tubulin, during the first wave of spermatogenesis and in the adult gonad (from 7 to 60 dpp). Here we show that, in mitotic phases, PREP shares its localization with tubulin in Sertoli cells, gonocytes and spermatogonia. Later, during meiosis, both proteins are found in spermatocytes, and in the cytoplasm of Sertoli cells protrusions, which surround the germ cells, while, during spermiogenesis, they both localize in the cytoplasm of round and elongating spermatids. Finally, they are expressed in the flagellum of mature gametes, as corroborated by additional immunolocalization analysis on both rat and human sperm. Our data strongly support the hypothesis of a role of PREP in supporting a correct reproductive function and in cytoskeletal organization during Mammalian testis morphogenesis and gamete progression, while also hinting at its possible investigation as a morphological marker of germ cell and sperm physiology.\n\nSummary statementIn this paper we show the co-localization of the enzyme PREP with tubulin during the first wave of rat spermatogenesis and in mature gametes of rat and human.

cell biology↗