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Tebaldi, T.

Publications and source records attributed to Tebaldi, T..

At least 19 recordsLinked to original sources

Female-specific m6A remodeling in the liver correlates with post-transcriptional metabolic adaptation to high fat diet

Sex differences strongly influence susceptibility to metabolic dysfunction-associated steatotic liver disease (MASLD), yet the regulatory mechanisms underlying these differences remain incompletely understood. To examine sex-specific hepatic adaptation to a high-fat (HF) diet mouse model of MASLD, we integrated proteomics, transcriptomics, and Oxford Nanopore direct RNA sequencing for transcriptome-wide m6A profiling in male and female mouse livers. Female mice were relatively protected from HF diet-induced hepatic steatosis and exhibited distinct proteome remodeling enriched for peroxisomal pathways. In contrast, transcriptomic responses in females were dominated by inflammatory signatures and did not recapitulate the metabolic adaptations observed at the protein level, revealing extensive RNA-protein discordance and post-transcriptional remodeling. Integrated RNA-protein analyses identified female-specific amplification of peroxisomal proteins despite modest transcript-level changes. HF diet also induced sex-specific remodeling of m6A RNA methylation and altered regulation of the m6A methylation system. Notably, reduced 3' UTR m6A methylation of peroxisomal transcripts inversely correlated with increased protein abundance relative to RNA expression in female mice. Together, these findings implicate m6A-associated post-transcriptional regulation in sex-specific hepatic adaptation to HF diet exposure and the basis for discordance between many of the mRNAs and proteins in the liver.

systems biology↗

FoldARE, an RNA secondary structure analysis and prediction tool via generative pseudo-SHAPE modeling

RNA secondary structure prediction is limited by conformational heterogeneity and the scarcity of experimental data, as many RNAs populate ensembles of near-isoenergetic folds and SHAPE data are often unavailable. We present FoldARE (Folding and Analysis of RNA Ensembles), a two-step framework that derives pseudo-SHAPE constraints from in silico structural ensembles and uses them to guide SHAPE-aware secondary structure prediction. In the first step, an ensemble is generated and parsed nucleotide by nucleotide to estimate single-strandedness frequencies, which are converted into a pseudo-SHAPE reactivity profile using a weight-and-threshold scheme. In the second step, this profile is provided as a constraint to a SHAPE-compatible folding algorithm to improve the final prediction. We systematically evaluated all combinations of four ensemble-capable predictors, ViennaRNA, RNAstructure, LinearFold and EternaFold. After parameter optimization on a structurally diverse 25-RNA training set and validation using multiple scoring schemes, the best configuration combined EternaFold as ensembler and RNAstructure as predictor. Across external benchmark datasets (RNAstrand, ArchiveII and bpRNA) and the experimentally derived eFold dataset, FoldARE achieved the highest accuracy. Beyond prediction, FoldARE provides modules for ensemble-focused comparative analysis, including pairwise and multi-tool consensus assessment, per-nucleotide variability metrics, and interactive visualizations. Notably, it also supports the evaluation of m6A modification effects on structural ensembles. FoldARE is freely available on GitHub (https://github.com/TebaldiLab/FoldARE) and as a web accessible version (https://rdds.it/foldare/)

bioinformatics↗

Centrosome architecture and m6A-dependent gating of p53 surveillanceafter whole-genome doubling

Whole-genome doubling (WGD) generates a tetraploid state that challenges cellular homeostasis and is strongly selected against in TP53-proficient contexts. Although centrosome amplification serves as a structural correlate of genome doubling, how centrosomal features engage and sustain p53 surveillance remains incompletely understood. Here, we develop a genetically encoded MDM2-based fluorescent reporter to monitor Caspase-2 pathway activation in living cells after WGD. Combining pharmacological profiling and genome-wide CRISPR screening, we uncover a multi-layered regulation of p53 responses. We identify PLK1-dependent centriole maturation and subdistal appendage integrity as architectural determinants of PIDDosome-dependent Caspase-2 activation, independent of distal appendage assembly. We show that upon WGD, Caspase-2-mediated cleavage of MDM2 reshapes the p53-MDM2 regulatory loop, enabling sustained p53 signaling. This sustained output depends on the catalytic activity of METTL3 and associated m6A writer proteins. Together, these findings demonstrate that centrosome architecture and epitranscriptomic regulation cooperate to shape p53 surveillance after genome doubling. HighlightsO_LIWhole-genome doubling creates a surveillance state sensed by centrosome cluster architecture. C_LIO_LICaspase-2 activation converts the p53-MDM2 loop from negative to positive feedback. C_LIO_LIm6A methylation establishes competence of the p53 module for sustained output. C_LIO_LIA genetically encoded biosensor enables functional dissection of this circuit. C_LI

cell biology↗

Spatiotemporal multi-omics atlas of the aging neuromuscular junction

The demographic shift toward a global aging population, coupled with rising prevalence of neurodegenerative diseases, poses major public health challenges. Aging is the primary risk factor for most neurodegenerative conditions, making the elucidation of its molecular mechanisms critical for developing effective interventions. Dysfunction of the neuromuscular junction (NMJ), the specialized synapse essential for motor function, is an early hallmark of aging and several neurodegenerative disorders, yet its molecular determinants remain incompletely understood. To shed light on potential common underlying mechanisms, we performed a spatiotemporal multi-omics analysis of the murine NMJ during aging, uncovering several genes showing decoupling between transcript and protein trajectories that may drive the related progressive motor decline. NMJs of soleus (SOL) and extensor digitorum longus (EDL) muscles, differing in fiber composition and vulnerability to aging and disease, displayed distinct spatiotemporal dynamics: fast-twitch EDL, more susceptible to degeneration, exhibited stronger mRNA-protein decoupling than aged slow-twitch SOL or younger SOL and EDL muscles. Elevated expression of miRNAs and RNA-binding proteins in aged EDL highlights the key role of post-transcriptional regulation in NMJ aging. This study provides new insights into the physiopathology of neuromuscular aging and offers a resource for investigating mechanisms shared between aging and neurodegenerative diseases. Additionally, it opens avenues for AI-driven discovery of drug targets and early biomarkers, potentially accelerating the development of therapeutic strategies.

neuroscience↗

Unveiling Oligodendrocyte-Lineage Differentiation in the Glioblastoma Infiltrative Zone Through Spatial Transcriptomics

IDH-wildtype glioblastoma (GBM) is the most aggressive primary brain tumor, characterized by limited therapeutic options and inevitable recurrence. This recurrence is driven by the highly infiltrative behavior of GBM cells, which prevents complete resection. Here, we performed spatially resolved transcriptomic profiling of four surgically defined GBM regions to characterize the infiltrative tumor compartment. Across multiple datasets and profiling approaches, the infiltrative zone showed reduced cellular heterogeneity compared with the tumor core. By comparison with an integrated reference of single-cell RNA sequencing data, we revealed that this reduction reflects a preferential differentiation of infiltrative GBM cells toward an oligodendrocyte-like lineage, accompanied by attenuated inflammatory signaling. In contrast, necrotic and proliferative regions display pronounced astrocyte-like and mesenchymal-like programs. Combined immunohistochemistry and fluorescence in situ hybridization confirmed the enrichment of oligodendrocyte-like tumor cells in the infiltrative area. Together, these findings identify the oligodendrocyte-like state as a defining feature and potential therapeutic vulnerability of infiltrative GBM driving brain invasion and relapse.

cancer biology↗

Model-independent reorganization of translation in TDP-43 Amyotrophic Lateral Sclerosis

The RNA-binding protein TDP-43 is a major contributor and a pathological hallmark of Amyotrophic Lateral Sclerosis (ALS), yet how TDP-43 dysregulation mechanistically alters protein synthesis across neuronal compartments and disease models remains unclear. Here, we dissected TDP-43-driven translational alterations in both in vitro and in vivo TDP-43 models of ALS. Through ribosome and polysome profiling, computational, and biochemical analyses, we observed robust TDP-43-associated translational remodelling at cellular and subcellular resolution. Our findings reveal a conserved mechanism across models, characterized by enhanced ribosome recruitment on polysomes, elongation impairment, axonal downregulation and instability of TDP-43 target mRNAs and redistribution toward non-target transcripts. Notably, TDP-43 dysregulation alters ribosome dynamics and selectively impairs translation of TDP-43 target mRNAs, whilst favouring the translation of other transcripts. This process reflects a compensatory but maladaptive response to TDP-43-induced mRNA destabilization. Together, these data demonstrate that alterations in TDP-43 disrupts neuronal proteostasis through ribosome reorganization and loss of mRNA homeostasis, providing a unifying mechanistic framework for translational imbalance in ALS and revealing early molecular events that may underlie motor neuron vulnerability.

molecular biology↗

NNMT is a biomarker of prostate cancer cells with a mesenchymal phenotype and induces sensitivity to metabolic agents

Nicotinamide phosphoribosyltransferase (NAMPT) is the rate-limiting enzyme in the NAD+ salvage pathway and a promising therapeutic target in cancer. Resistance to NAMPT inhibitors, such as FK866, remains a key limitation to their clinical translation. While acquired resistance in cancer cell lines has been linked to target mutations, increased drug efflux and metabolic reprogramming, innate resistance mechanisms have been poorly studied. Addressing this gap is essential for identifying patient subgroups most likely to benefit from NAMPT-targeted therapies. Advanced castration resistance prostate cancer (CRPC) lacks effective targeted treatments. Among its heterogeneous subtypes, stem cell-like CRPC (CRPC-SCL) is defined by androgen receptor (AR) independence, YAP/TAZ dependency, and mesenchymal traits. In this study, we identify the YAP/nicotinamide N-methyltransferase (NNMT) axis as a key mediator of innate sensitivity to FK866 in stem-like mesenchymal CRPC cells. Using genetic and pharmacological models, we show that YAP or NNMT silencing rescues mesenchymal CRPC cells from FK866-induced apoptosis, endoplasmic reticulum stress, and NAD(H) loss. Metabolomic profiling confirmed that NNMT activity depletes nicotinamide, sensitizing cells to FK866. We further validated NNMT upregulation across clinical CRPC- SCL datasets, where it strongly correlates with mesenchymal and therapy-resistant phenotypes, as well as in murine prostate cancer cells with mesenchymal/stemness phenotypes. In conclusion, we identify the YAP/NNMT axis as a determinant of innate sensitivity to NAMPT inhibition in prostate cancer. These findings support the use of NNMT as a predictive biomarker for NAD+-targeting therapies and provide mechanistic insight into a metabolic vulnerability of the CRPC-SCL subtype. Targeting the YAP/NNMT/NAMPT axis may represent a novel strategy for treating stem-like/mesenchymal, therapy-resistant prostate cancers. GRAPHICAL ABSTRACT O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=118 SRC="FIGDIR/small/651153v2_ufig1.gif" ALT="Figure 1"> View larger version (15K): org.highwire.dtl.DTLVardef@de4237org.highwire.dtl.DTLVardef@1cd577corg.highwire.dtl.DTLVardef@2aa97corg.highwire.dtl.DTLVardef@dd2ac0_HPS_FORMAT_FIGEXP M_FIG C_FIG

cancer biology↗

Double stranded RNA sensing drives interferon silencing in early development

In early mammalian development, the type I interferon (IFN) response is inactive, only becoming functional after gastrulation. As a result, the totipotent and pluripotent embryonic stages remain highly susceptible to pathogens, including viruses. Here, we show that pluripotent mouse embryonic stem cells (mESCs) suppress the RIG-I-like receptor sensing pathway by silencing the expression of the dsRNA sensor MDA5. We show that this silencing is required to avoid the recognition of dsRNAs from endogenous origin, which only accumulate in mESCs. Reintroducing MDA5 results in recognition of these endogenous dsRNAs, and activation of the IFN response through IRF3. The production of IFN alters the differentiation ability of mESCs, as well as the pluripotency gene expression program, as shown by epigenetic, transcriptomic and proteomic analyses. These findings are conserved in zebrafish, where MDA5 is also expressed at later stages of development. Similarly, zebrafish lack early-stage IFN activation and premature IFN signalling results in developmental defects. Altogether, we conclude that silencing the RIG-I-like receptor pathway during early development is the widely conserved and is required to prevent aberrant immune recognition of endogenous dsRNAs, safeguarding normal development.

cell biology↗

RBM15-MKL1 fusion protein promotes leukemia via m6A methylation and WNT pathway activation

Acute megakaryoblastic leukemia driven by the RBM15-MKL1 fusion protein (RM-AMKL) is the only known recurrent mutation involving the N6-methyladenosine (m6A) writer complex. Dysregulation of m6A modification affects RNA fate and is linked to oncogenesis. Inhibition of m6A deposition via inhibition of the METTL3 writer protein has anti-tumour activity, but the mechanism underlying its efficacy and cancer specificity remains unclear. We treated murine RM-AMKL cells with a novel METTL3 inhibitor, STM3675, and showed apoptosis in vitro and prolonged survival of mice transplanted with RM-AMKL, implicating m6A as an essential component of AMKL and identifying Wnt signalling as a key driver of leukemogenesis. To elucidate the mechanism by which m6A contributes to leukemogenesis we employed a multi-omic approach, combining transcriptome-wide assessment of RNA binding, methylation and turnover. We show for the first time that RM retains the RNA-binding and m6A-modifiying functions of its RBM15 component, while also selectively regulating distinct mRNA targets, particularly genes involved in Wnt signalling including Frizzled. Frizzled genes are upregulated by RM and downregulated in RM-AMKL cells in response to METTL3 inhibition, providing an m6A-dependent explanation for their upregulation. Direct Frizzled knockdown reduced RM-AMKL growth, which was partially rescued by treatment with a {beta}-catenin agonist, underscoring a functional role of Wnt signalling in RM-AMKL. Human AMKLs show elevated Wnt pathway and Frizzled gene expression, highlighting the relevance of our work. Together, our findings reveal that RM-specific m6A modifications and activation of Wnt signalling are critical drivers of RM-AMKL, highlighting these pathways as potential therapeutic targets. Key PointsO_LIRM retains functional abilities of RBM15 and additionally interacts with Wnt-related transcripts to increase expression of Fzd proteins. C_LIO_LIThe METTL3 writer complex and WNT signalling pathways are essential for RM-driven leukemia. C_LI

cancer biology↗

Generative Models Validation via Manifold Recapitulation Analysis

Comparing empirical distributions is central to generative model evaluation, hypothesis testing and data augmentation in high-dimensional biological data. Established methods such as energy distance summarize each point's relationship to the opposing distribution through a single expected distance, providing sensitivity to location shifts. We introduce Signature Distance (SD), a statistical distance that compares empirical distributions through the mean absolute difference of their sorted pointwise distance profiles. SD is a structural generalization of energy distance and matches its quadratic pairwise-distance cost, with an additional sorting step. In controlled experiments and on TCGA pan-cancer transcriptomic data, we show that (1) SD detects density changes with greater sensitivity than energy distance in the tested scale-contraction scenarios; (2) per-point mean-distance and signature-profile landscapes reveal the geometric mechanisms behind their different penalties; (3) linearly interpolated biological samples that receive no increased penalty from energy distance are penalized by SD; (4) SD provides a direct differentiable potential energy for model-free Langevin data expansion, with a bootstrap resampling protocol to assess the stopping epoch; and (5) SD is directly usable as a differentiable generative training loss. Code to reproduce all experiments is available at github.com/lazzaronico/signature-distance.

bioinformatics↗

An in vivo screen identifies NAT10 as a master regulator of brain metastasis

Metastasis is the major cause of cancer-related deaths. Emerging evidence has shown that epigenetic regulation plays a fundamental role in cancer metastasis. To better understand the epigenetic regulation of metastasis, we conducted an in vivo shRNA screen for vulnerabilities of brain metastasis and identified N-acetyltransferase 10 (NAT10) as a driver of brain metastasis. Knockdown of NAT10 significantly restrains cancer cell proliferation and migration in vitro, and tumor growth and brain metastasis in vivo. Structure-function analysis of NAT10 showed that its poorly characterized RNA helicase domain is critical for breast cancer cell growth in vitro, while its N-acetyltransferase domain is essential for primary tumor growth and brain metastasis in vivo. Integrative transcriptomic and proteomic analyses revealed key downstream effectors of NAT10, including PHGDH and PSAT1, two catalyzing enzymes for serine biosynthesis implicated in brain metastasis, and HSPA5, known to promote metastasis. We found that distant metastases of breast cancer, especially brain metastases express higher levels of NAT10, PHGDH, PSAT1, and HSPA5. Silencing PHGDH/PSAT1 or HSPA5 in metastatic breast cancer cells inhibits their ability to grow in the serine/glycine-limited condition or migrate, respectively, phenocopying the effects of NAT10 depletion. Moreover, NAT10 promotes the expression of PHGDH, PSAT1, and HSPA5 in its RNA helicase-dependent manner. These findings establish NAT10 as a master regulator of brain metastasis and shed light on the biological functions of its RNA helicase domain, nominating NAT10 as a target for treating metastatic diseases.

cancer biology↗

Telomeric lncRNA TERRA localizes to stress granules in human ALT cells

TERRA, the lncRNA derived from the ends of chromosomes, has a number of well-described nuclear roles including telomere maintenance and homeostasis. A growing body of evidence now points at its role in human cells outside of nucleus--it has been found to be a component of extracellular vesicles, a player in inflammation signalling and its capacity for translation has been shown. In this work, using a combination of sensitive microscopy methods, cellular fractionation, proteomics and transcriptome analysis, we demonstrate directly for the first time that TERRA is present in the cytoplasm of human telomerase-negative cells, especially upon various stress stimuli, and that it associates with stress granules. Confirming the presence of TERRA in the cytoplasm, our work fills an important gap in the field, and contributes to the discussion about the role of TERRA as a transcript involved in nucleo-cytoplasmic stress communication.

molecular biology↗

Interpreting single-cell messages in normal and aberrant hematopoiesis with the Cell Marker Accordion

Single-cell technologies offer a unique opportunity to explore cellular heterogeneity in health and disease. However, reliable identification of cell types and states represents a bottleneck. Available databases and analysis tools employ dissimilar markers, leading to inconsistent annotations and poor interpretability. Furthermore, current tools focus mostly on physiological cell types, limiting their applicability to disease. We developed the Cell Marker Accordion, a user-friendly platform providing automatic annotation and unmatched biological interpretation of single-cell populations, based on consistency weighted markers. We validated our approach on multiple single-cell and spatial datasets from different human and murine tissues, improving annotation accuracy in all cases. Moreover, we show that the Cell Marker Accordion can identify disease-critical cells and pathological processes, extracting potential biomarkers in a wide variety of disease contexts. The breadth of these applications elevates the Cell Marker Accordion as a fast, flexible, faithful and standardized tool to annotate and interpret single-cell and spatial populations in studying physiology and disease.

bioinformatics↗

Impact of Memory T Cells on SARS-COV-2 Vaccine Response in Hematopoietic Stem Cell Transplant

During the COVID-19 pandemic, hematopoietic stem cell transplant (HSCT) recipients faced an elevated mortality rate from SARS-CoV-2 infection, ranging between 10-40%. The SARS-CoV-2 mRNA vaccines are important tools in preventing severe disease, yet their efficacy in the post-transplant setting remains unclear, especially in patients subjected to myeloablative chemotherapy and immunosuppression. We evaluated the humoral and adaptive immune responses to the SARS-CoV-2 mRNA vaccination series in 42 HSCT recipients and 5 healthy controls. Peripheral blood mononuclear nuclear cells and serum were prospectively collected before and after each dose of the SARS-CoV-2 vaccine. Post-vaccination responses were assessed by measuring anti-spike IgG and nucleocapsid titers, and antigen specific T cell activity, before and after vaccination. In order to examine mechanisms behind a lack of response, pre-and post-vaccine samples were selected based on humoral and cellular responses for single-cell RNA sequencing with TCR and BCR sequencing. Our observations revealed that while all participants eventually mounted a humoral response, transplant recipients had defects in memory T cell populations that were associated with an absence of T cell response, some of which could be detected pre-vaccination.

immunology↗

NOC1 is a Direct MYC Target, and Its Protein Interactome Dissects Its Activity in Controlling Nucleolar Function

The nucleolus is a subnuclear compartment critical in ribosome biogenesis and cellular stress responses. These mechanisms are governed by a complex interplay of proteins, including NOC1, a member of the NOC family of nucleolar proteins responsible for controlling rRNA processing and ribosomal maturation. This study reveals a novel relationship between NOC1 and MYC transcription factor, known for its crucial role in controlling ribosomal biogenesis, cell growth, and proliferation. Here, we demonstrate that NOC1 functions as a direct target of MYC, as it is transcriptionally induced through a functional MYC-binding E-box sequence in the NOC1 promoter region. Furthermore, protein interactome analysis reveals that NOC1-complex includes the nucleolar proteins NOC2 and NOC3 and other nucleolar components such as Nucleostemin1 Ns1 transporters of ribosomal subunits and components involved in rRNA processing and maturation. In response to MYC, NOC1 expression and localization within the nucleolus significantly increase, suggesting a direct functional link between MYC activity and NOC1 function. Notably, NOC1 over-expression leads to the formation of large nuclear granules and enlarged nucleoli, which co-localize with nucleolar fibrillarin and Ns1. Additionally, we demonstrate that NOC1 expression is necessary for Ns1 nucleolar localization, suggesting a role for NOC1 in maintaining nucleolar structure. Finally, the co-expression of NOC1 and MYC enhances the formation of abnormal structures formed by NOC1 within the nucleolus, outlining another aspect of NOC1 and MYC cooperation in nucleolar dynamics. This study also reveals an enrichment with NOC1 with few proteins involved in RNA processing, modification, and splicing. Moreover, proteins such as Ythdc1, Flacc, and splenito are known to mediate N6-methyladenosine (m6A) methylation of mRNAs in nuclear export, revealing NOC1s potential involvement in coordinating RNA splicing and nuclear mRNA export. In summary, we uncovered novel roles for NOC1 in nucleolar homeostasis and established its direct connection with MYC in the network governing nucleolar structure and function. These findings also highlight NOC1s interaction with proteins relevant to specific RNA functions, suggesting a broader role in addition to its control of nucleolar homeostasis and providing new insight that can be further investigated.

cell biology↗

Filming space-time changes of gene expression with expressyouRcell

The last decade has witnessed massive advancements in high-throughput techniques capable of producing quantifications of transcript and protein levels across time and space, and at high resolution. Yet, the large volume of big data available and the complexity of experimental designs hamper an easy understanding and effective communication of the results. Here we present expressyouRcell, a unique and easy-to-use R package to map the multi-dimensional variations of transcript and protein levels in cell-pictographs. These variations are outcomes of differential and gene set enrichment analysis across space and time. Our tool directly associates these results with up to twenty specific cellular compartments, visualising them as pictographic representations of four different cellular thematic maps. expressyouRcell visually reduces the complexity of displaying gene expression and protein level changes across multiple time-points by generating dynamic representations of cellular pictographs. We applied expressyouRcell to six datasets, demonstrating its flexibility and usability in the visualization of simple and highly effective static and dynamic representations of time course variations in gene expression. Our approach complements classical plot-based methods for visualization and exploitation of biological data, improving the standard quantitative interpretation and communication of relevant results.

bioinformatics↗

Pre-mRNA Splicing Factor U2AF2 Recognizes Distinct Conformations of Nucleotide Variants at the Center of the pre-mRNA Splice Site Signal

The essential pre-mRNA splicing factor U2AF2 (also called U2AF65) identifies polypyrimidine (Py) tract signals of nascent transcripts, despite length and sequence variations. Previous studies have shown that the U2AF2 RNA recognition motifs (RRM1 and RRM2) preferentially bind uridine-rich RNAs. Nonetheless, the specificity of the RRM1/RRM2 interface for the central Py tract nucleotide has yet to be investigated. We addressed this question by determining crystal structures of U2AF2 bound to a cytidine, guanosine, or adenosine at the central position of the Py tract, and compared U2AF2-bound uridine structures. Local movements of the RNA site accommodated the different nucleotides, whereas the polypeptide backbone remained similar among the structures. Accordingly, molecular dynamics simulations revealed flexible conformations of the central, U2AF2-bound nucleotide. The RNA binding affinities and splicing efficiencies of structure-guided mutants demonstrated that U2AF2 tolerates nucleotide substitutions at the central position of the Py tract. Moreover, enhanced crosslinking and immunoprecipitation of endogenous U2AF2 in human erythroleukemia cells showed uridine-sensitive binding sites with lower sequence conservation at the central nucleotide positions of otherwise uridine-rich, U2AF2-bound splice sites. Altogether, these results highlight the importance of RNA flexibility for protein recognition and take a step towards relating splice site motifs to pre-mRNA splicing efficiencies.

biophysics↗

Multi-omics profiling of U2AF1 mutants dissects pathogenic mechanisms affecting RNA granules in myeloid malignancies

Somatic mutations in splicing factors are of significant interest in myeloid malignancies and other cancers. U2AF1, together with U2AF2, is essential for 3 splice site recognition. U2AF1 mutations result in aberrant splicing, but the molecular mechanism and the full spectrum of consequences on RNA biology have not been fully elucidated to date. We performed multi-omics profiling of in vivo RNA binding, splicing and turnover for U2AF1 S34F and Q157R mutants. We dissected specific binding signals of U2AF1 and U2AF2 and showed that U2AF1 mutations individually alter U2AF1-RNA binding, resulting in defective U2AF2 recruitment. We demonstrated a complex relationship between differential binding and splicing, expanding upon the currently accepted loss-of-binding model. Finally, we observed that U2AF1 mutations increase the formation of stress granules in both cell lines and primary acute myeloid leukemia samples. Our results uncover U2AF1 mutation-dependent pathogenic RNA mechanisms and provide the basis for developing targeted therapeutic strategies.

cancer biology↗