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Biology subjects

Lu, L.

Publications and source records attributed to Lu, L..

At least 19 recordsLinked to original sources

De novo design of metalloenzymes using Metal Mer

De novo enzyme design provides a route to create biocatalysts for target reactions, yet achieving high activity and selectivity directly from computation remains challenging. How best to design catalytic sites remains an open question, and enzyme design-metalloenzyme design for new-to-nature transformations in particular-is still limited in success rate, in substrate scope, and in the range of reactions accessible. Here we present a pipeline that produces efficient metalloenzymes directly from computation. It uses Metal Mer, a structural unit mapping backbone geometry to statistically preferred metal coordination modes, to build metal-binding sites with high confidence, and then constructs the catalytic core around the reaction product with geometric restrictions. Using the pipeline, we designed zinc-dependent hydride-transfer enzymes, obtaining a highly selective variant that exhibits enantiomeric excess (ee) >99% on 13 substrates without directed evolution. For steroid substrates bearing multiple carbonyl groups, redesigned variants achieved high regio- and diastereo- selectivity greater than 19:1. Applying this framework to iron-catalyzed alkene difunctionalization, designed variants were active out of the box (10% yield, 70:30 enantiomeric ratio (e.r.)), exceeding a previously reported natural functional analogs (<5% yield, <60:40 e.r.); a single active-site residue mutation further raised selectivity to 96:4 e.r. for several substrates, on par with extensively evolved natural enzymes. The crystal structure of an active design matches the computational model with a backbone RMSD of 0.4 Angstrom, supporting the accuracy of the approach. These results establish our design framework as a general strategy for the de novo design of metalloenzyme series with diverse coordination geometries and coordinating residues, enabling efficient and selective catalysis of challenging chemical transformations.

synthetic biology↗

An accumbal cholinergic ISR-HCN2 axis sustains maladaptive cue motivation

Environmental cues associated with rewarding outcomes can exert persistent control over behavior long after the reward is absent, yet the cellular adaptations that stabilize such maladaptive motivation remain unclear. Here we identify nucleus accumbens cholinergic interneurons (CINs) as causal regulators of persistent cue-driven seeking. Self-administration of addictive drugs or high-fat reward, but not sucrose, selectively increased CIN pacemaker firing. Cocaine-paired cues evoked rapid acetylcholine release in the nucleus accumbens core, and bidirectional manipulation of CINs suppressed or enhanced cue-induced cocaine seeking. Mechanistically, cocaine experience engaged the integrated stress response (ISR) in CINs, increased HCN2 expression and Ih, and stabilized a hyperexcitable state. CIN-specific ISR suppression or HCN2 knockdown reduced cocaine seeking, whereas HCN2 overexpression enhanced it. Local HCN blockade and systemic treatment with the clinically approved HCN blocker ivabradine reduced cue-driven seeking across addictive-drug and high-fat-reward paradigms while sparing sucrose seeking. These findings identify an ISR-HCN2-dependent cholinergic mechanism that stabilizes maladaptive cue-driven motivation and nominate HCN-dependent excitability as a tractable target for therapeutic intervention.

neuroscience↗

Gradual evolution of multiplexed spatial coding within a conserved hippocampal scaffold

The hippocampus constructs spatial maps for navigation, yet their format differs markedly across species. Whether divergences reflect ecological adaptation, phylogenetic architecture, or flexible coding strategy within a conserved circuit has been difficult to disentangle. We recorded CA1 in rats and tree shrews (Tupaia belangeri chinensis), a mammal phylogenetically and ecologically between rodents and primates, using identical tasks and analyses. Unlike the position-dominant code of rats, tree shrew CA1 exhibited a hybrid representation: weaker position selectivity, stronger non-positional tuning, and prevalent multiplexing approaching primate characteristics. Multiplexed populations decoded location as accurately as rat position populations while using fewer neurons, suggesting computational advantages of high-dimensional coding. Despite this representational shift, proximo-distal gradient, pattern completion, and global remapping persisted. Representational format can be tuned without altering the underlying circuit. Tree shrews occupy an evolutionary intermediate in which ancestral network dynamics are repurposed for efficient multiplexed coding, tracing a transition toward primate-like spatial representations.

neuroscience↗

Siglec-15 is a glyco-immune checkpoint in prostate cancer regulating immune evasion and metastasis

Prostate cancer is a leading cause of cancer-related mortality in men, and effective treatment options are limited for advanced and metastatic disease. The sialoglycan immune checkpoint Siglec-15 has emerged as a key mediator of tumour-associated immune suppression in several malignancies; however, its expression and functional role in prostate cancer remain poorly defined. Here, using dual immunofluorescence and immunohistochemistry, we demonstrate that Siglec-15 is expressed by prostate tumour epithelial cells, immunosuppressive macrophage phenotypes, and bone-resorbing osteoclasts within the tumour microenvironment. Mechanistically, we show that direct Siglec-15 receptor crosslinking, either by antibodies or tumour cell-derived conditioned medium, promotes monocyte-to-macrophage differentiation, generating macrophages with immunosuppressive and pathogenic phenotypes. Using therapeutic antibodies, we show that Siglec-15 blockade suppresses supernatant-induced monocyte to macrophage differentiation, allowing for the recovery of CD8 T-cell activation. Furthermore, we reveal that macrophage colony-stimulating factor (M-CSF) driven monocyte-derived macrophage differentiation is partially dependent on Siglec-15 signalling, with Siglec-15 blockade enhancing CD8 T-cell responses. In addition, anti-Siglec-15 treatment suppressed osteoclast differentiation, highlighting a dual role for Siglec-15 in prostate cancer immune suppression and bone remodelling. Consistent with these in vitro findings, therapeutic Siglec-15 blockade significantly reduced subcutaneous tumour growth in a CD8 T-cell-dependent manner and prolonged survival in a mouse model of prostate cancer metastasis. Together, these findings identify Siglec-15 as a central regulator of the prostate cancer glyco-immune axis, linking tumour-associated macrophage immune suppression with osteoclast-mediated bone remodelling, providing a compelling rationale for the clinical development of Siglec-15-targeted therapies for patients with advanced disease.

cancer biology↗

Genome-wide association study of grain iron and zinc concentrations in a diverse CIMMYT wheat panel across contrasting moisture environments

Micronutrient deficiencies remain a major public-health challenge, and genetic improvement of grain iron and zinc concentrations in wheat offers a sustainable biofortification strategy. We evaluated 563 CIMMYT advanced wheat lines and six checks under restricted irrigation (two irrigations) and well-watered conditions (five irrigations) at Ciudad Obregon, Mexico. Grain iron and zinc concentrations were quantified by energy-dispersive X-ray fluorescence spectrometry. Best linear unbiased estimates were calculated, and genome-wide association analyses were conducted using 8,687 high-quality single-nucleotide polymorphisms and a multi-locus mixed model that accounted for population structure. Five marker-trait associations were detected in at least two datasets. For grain zinc concentration, S3B_811421507 was detected under both irrigation regimes and in the combined analysis, whereas S3B_814372642 was detected under well-watered conditions and in the combined analysis. For grain iron concentration, S2B_73321328 and S4B_20679079 were associated with variation under restricted irrigation and in the combined analysis, while S2B_72162723 was detected under well-watered conditions and in the combined analysis. Individual loci explained 0.34% to 3.36% of phenotypic variance, consistent with the quantitative inheritance of grain micronutrient concentration. The identified alleles provide candidate targets for validation and marker-assisted biofortification breeding, while their environment-dependent effects emphasize the need to evaluate micronutrient traits across contrasting moisture conditions.

plant biology↗

BXD51: A Robust and Translational Mouse Model for Studying the Pathophysiology of Glaucoma

The aim of this study was to characterize the BXD51 mouse strain as a reproducible model of chronic progressive glaucoma. Unlike the highly susceptible DBA/2J (D2) mutant strain, BXD51 is a genetically stable recombinant inbred line derived from C57BL/6J (B6) and D2 parental lines. Longitudinal assessments of intraocular pressure (IOP), visual acuity (VA), contrast sensitivity (CS), and pattern electroretinogram (pERG) demonstrated that BXD51 mice undergo a delayed decline in visual and retinal ganglion cell (RGC) function. Their decline is biphasic, with a period of initial ocular stress followed by a late-onset, accelerated structural and functional deterioration of RGCs. Anterior segment structural analysis by optical coherence tomography (OCT) and histology demonstrated increasing pigment dispersion and subsequent iridocorneal angle closure. Immunofluorescence analysis of structural neuronal markers (TUBB3 and MAP1A/2) exhibited thinning of the ganglion cell layer (GCL) and inner plexiform layer (IPL) together with axonal degeneration, mirroring the laminar degeneration seen in human glaucoma patients. BXD51 also revealed marked spatial heterogeneity between peripheral and central retina. Multivariate analysis confirmed that BXD51 follows a distinct clinical trajectory that separates it from both wild-type (B6) and a severe glaucoma model (D2). By spanning the range between resistance and extreme susceptibility to glaucomatous neurodegeneration, this study establishes the BXD51 mouse as a translational platform for mechanistic studies and for evaluating long-term neuroprotective strategies.

neuroscience↗

Extracellular vesicle associated nucleic acids and proteins as a complementary fraction for fish biodiversity monitoring and physiological signal recovery

Monitoring the biodiversity and physiological condition of aquatic organisms under environmental stress is central to aquatic ecosystem management. Environmental nucleic acid methods (eDNA and eRNA) have transformed biomonitoring but face well-documented limitations, including susceptibility to degradation, difficulty distinguishing living from legacy or transported signals, and limited capacity to report organism condition. Extracellular vesicles (EVs) released from all kinds of species, are stable and widespread vesicles in environment, showing biomarker potential. Here we evaluate whether nucleic acids and proteins recovered from EVs provide a complementary capture fraction that helps address these limitations. All four targets (eDNA, eRNA, EV-DNA, EV-RNA) shared an identical 12S rRNA metabarcoding workflow and differed only in the pre-analytical capture step, filtration for bulk environmental nucleic acids versus sequential 0.22 {micro}m filtration, tangential flow filtration, and ultracentrifugation for the EV-encapsulated fraction. In a controlled aquarium, EV-DNA recovered all seven reference species (100% sensitivity) versus 85.7% for bulk methods, including a low-abundance detection of Anguilla japonica that warrants independent confirmation. In field sampling at Xinglinwan Reservoir, EV-RNA recovered 11 of 12 expected species (91.7% sensitivity) compared with 50-58% for bulk methods, including four reference taxa detected only by the EV fraction. EV-based methods also captured more even community representation, and EV-RNA showed lower human-read contamination than eDNA. Metaproteomic analysis of reservoir EVs recovered fish-derived proteins, dominated by Cyprinus carpio, including candidate stress-associated functions (chaperones, metallothioneins, oxidoreductases), independently corroborating the EV-based detection of C. carpio. Their abundance varied with seasons, suggesting their ability to respond to environmental changes. Together, these results indicate that EV-associated nucleic acids and proteins constitute an informative complementary fraction for integrated biodiversity and physiological-signal monitoring in impacted aquatic environments. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=126 SRC="FIGDIR/small/735187v1_ufig1.gif" ALT="Figure 1"> View larger version (40K): org.highwire.dtl.DTLVardef@ee0e6borg.highwire.dtl.DTLVardef@f4d1daorg.highwire.dtl.DTLVardef@fd5123org.highwire.dtl.DTLVardef@da0ddc_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗

eRNAformer enables genome-wide de novo mapping of enhancer-derived RNA loci

Enhancer-derived RNAs (eRNAs) are critical regulators of gene transcription, yet their genome-wide annotation remains challenging. Here, we present eRNAformer, a multi-modal deep learning framework that integrates convolutional neural networks with transformers, specifically designed to capture long-range genetic features associated with bidirectional transcription. This approach enables de novo mapping of eRNA loci using DNA sequence and aggregated conventional RNA-seq data. When evaluated on ENCODE datasets, eRNAformer demonstrated high sensitivity and specificity in discriminating known eRNA loci from non-eRNA loci. Notably, the newly identified eRNA loci were enriched with evolutionarily constrained variants and genetic risk factors for complex diseases, and exhibit potential relevance for cancer therapy. Applied to GEO datasets, eRNAformer identified a range from 14,219 to 56,451 eRNA loci across multiple hematologic malignancies, facilitating the construction of a comprehensive eRNA database for blood cancers. We further identified and experimentally validated FOXO1e, a cluster of eRNAs located approximately 120 kb upstream of FOXO1, a known oncogene that drives t(8;21) acute myeloid leukemia (AML) preleukemic program. Together, these findings establish eRNAformer as a powerful tool for genome-wide eRNA annotation, provide a valuable resource for eRNA studies in hematologic cancers, and underscore the functional importance of eRNAs in AML pathogenesis.

bioinformatics↗

DNA-barcode labelled MHCII multimers for detection of antigen-specific CD4 T cells across large libraries of epitopes

The role of antigen-specific T cells responding to antigen is a topic of intense studies, and critical for mechanistic insight of diseases and development of therapeutic strategies. Methods for broad-scale detection of antigen-specific CD4 T cells are lacking, while such methods have demonstrated great value in exploring CD8 T cell response in health and disease. Furthermore, major histocompatibility complex II (MHCII) assays are technically challenging due to high HLA diversity, lower binding affinities, low frequencies of ex vivo antigen-specific CD4 T cells and several bottlenecks in production and peptide exchange of MHCII monomers. Here we use peptide-loaded MHCII (pMHCII) proteins multimerized on a barcode- and fluorophore-labelled dextran backbone to provide a method for the detection of peptide-specific CD4 T cells by using a large display of MHCII-associated peptides. We have established a protocol for MHCII production and peptide-exchange suitable for the generation of large libraries of peptide-MHCII complexes. We validate the use of such pMHCII complexes in the form of barcode-labelled MHCII multimers to detect antigen-specific CD4 T cells. We demonstrate that we can identify antigen specific CD4 T cells, using these DNA barcoded peptide-MHCII multimer. The multimer bound CD4 T cells were selected based on the fluorochrome signal, and the co-attached DNA barcodes were hereafter amplified and used to identify the peptide-MHCII response/binding. In cases where the peptide-specific CD4 T cells frequencies are very low, we expanded the cell population with peptide-pools and in the presence of IL2. The given CD4 T cell populations hereby reach a cell number allowing for the DNA-barcoded pMHCII multimers to detect responses otherwise missed out. Applying this technology, we utilized a panel of 150 peptides derived from human cytomegalo virus (CMV), Epstein barr virus (EBV), Influenza (Flu), SARS CoV 2 and SARS CoV1, Hepatitis B virus (HBV), and Hepatitis C virus (HCV) loaded onto HLA-DRB1*01:01 and DRB1*04:01 to screen peripheral blood mononuclear cells (PBMC). We assessed ex vivo responses in 16 participants with HCV infection, and successfully detected naturally occurring viral-specific CD4 T cells at frequencies as low as 0.004% of total CD4 T cells. The low-frequency responses, identified via the barcode screen, were rigorously validated using individual fluorophore-labelled tetramer staining after a peptide-driven expansion in 15 participants. Furthermore, we assessed the recognition of novel HCV epitopes in 11 additional participants. Through this, we identified a total of 12 distinct HCV epitopes, including 9 that have not been previously utilized in assays to detect CD4 T cells. Overall, this barcoded-multimer platform provides a powerful tool for the large-scale discovery of class II epitopes and the broad profiling of CD4 T cell specificities. This method will allow for in-depth analyses of immune interactions, provide a better understanding of the antigen-driven associations between CD4 and CD8 T cell responses, and help dissect the complexities of CD4 T cell protection in HCV infection.

immunology↗

Mechano-Initiated PIEZO1-VEGFR2 Interaction Governs CD34+ Cell Differentiation and Repair in Arteriovenous Fistula

BackgroundEndothelial cell (EC) injury induced by disturbed flow drives neointimal hyperplasia in arteriovenous fistulas (AVFs), where CD34+ cell-mediated repair may be involved. PIEZO1 and VEGFR2 are important mechanosensors with critical role in maintaining endothelial function. However, whether PIEZO1 interacts with VEGFR2 during CD34+ cell differentiation to orchestrate the vascular repair remains unknown. MethodsAVF model was established in several mouse strains. Single cell RNA sequencing was performed for human and mouse samples. Cd34-CreERT2; R26-tdTomato; Piezo1flox/flox mice were used to investigate the effect of Piezo1 deletion on endothelial repair in AVFs. CD34-high human umbilical vein ECs (CD34high HUVECs) was sorted and exposed to different flow patterns to determine the role of shear stress in CD34high cell differentiation. Co-immunoprecipitation, proximal ligation assay and complementary approaches were performed to delineate mechanotransduction initiated by PIEZO1-VEGFR2 interaction. ResultsSingle cell RNA sequencing and immunostaining showed abundant CD34high cells in the vessel wall of AVFs in humans and animal models. Exposure of CD34high HUVECs to different flow patterns showed that laminar shear stress downregulated CD34 while upregulating VE-cadherin and claudin-5 expression. In contrast, oscillatory flow produced the opposite effects, indicating impaired endothelial maturation. PIEZO1 knockdown in CD34high HUVECs attenuated shear stress-induced endothelial marker expression. In Cd34 conditional Piezo1 knockout mouse model of AVF, we observed decreased number of CD34-derived cells, more compact cellular arrangement, and attenuated neointimal hyperplasia. Mechanistically, we found PIEZO1 interacts with VEGFR2, thereby mediating the distinct effects of laminar and oscillatory shear stress on AKT-FoxO1 axis, which critically regulates endothelial marker expression. Furthermore, pharmacological activation of AKT signaling in AVF mouse model enhanced CD34+ cell-mediated endothelial repair and attenuated neointimal hyperplasia. ConclusionPIEZO1-VEGFR2 complex-mediated mechanotransduction plays a key role in regulating CD34+ cell-derived endothelial repair in AVFs via AKT-FoxO1 axis. AKT activation enhances endothelial maturation, thereby attenuating neointimal hyperplasia in AVFs. Novelty and SignificanceO_ST_ABSWhat Is Known?C_ST_ABSO_LIIn arteriovenous fistulas (AVFs), abnormal shear stress induces endothelial cell injury, and the resulting neointimal hyperplasia is a major cause of anastomotic stenosis. C_LIO_LICD34 cells actively participate in vascular endothelial repair. C_LIO_LIPIEZO1 is a mechanoreceptor mediating endothelial sensing of hemodynamic shear stress, contributing to the maintenance of atheroprotective endothelial phenotype under laminar shear stress, whereas its activation induces pro-inflammatory effects under disturbed shear stress. C_LI What New Information Does This Article Contribute?O_LICD34 cells participate in repairing endothelial injury induced by abnormal shear stress in AVFs. PIEZO1 knockout in CD34+ cells improve endothelial repair and attenuates neointimal hyperplasia in AVF. C_LIO_LILaminar shear stress induces CD34 downregulation and upregulates VE-cadherin and claudin-5 expression in CD34-high human umbilical vein endothelial cells, whereas oscillatory shear stress upregulates CD34 expression and suppresses VE-cadherin and claudin-5 expression. C_LIO_LIMechano-stimuli lead to PIEZO1-VEGFR2 complex formation regulating CD34 cell-mediated endothelial repair through the downstream AKT-FoxO1 axis. C_LI Abnormal hemodynamic shear stress-induced endothelial injury initiates neointimal hyperplasia in AVFs. The present study identifies PIEZO1 as a key mechanosensor that regulates CD34+ cell-derived endothelial repair in response to distinct blood flow patterns. PIEZO1 promotes CD34+ cell differentiation into mature ECs for endothelial repair under laminar shear stress, whereas it disrupts the differentiation of CD34+ cells into mature endothelium under oscillatory shear stress. Mechanistically, a novel shear stress-sensing complex comprising PIEZO1 and VEGFR2 was identified in regulating flow-induced differentiation of CD34+ cells into mature ECs via the AKT-FoxO1 signaling axis, thereby controlling the expression of endothelial maturation markers VE-Cadherin and Claudin-5. These findings define a novel PIEZO1-VEGFR2 mechanotransduction axis in CD34+ cell-mediated endothelial repair and support AKT pathway activation as a potential therapeutic strategy against neointimal hyperplasia in AVFs.

cell biology↗

DNMT mRNA stability and YB-1 cooperatively regulate ABCB1 to drive cisplatin chemoresistance in cholangiocarcinoma

Background and AimsIntrahepatic cholangiocarcinoma (iCCA) is a tumor type with a high lethality due to late diagnosis and profound resistance to conventional chemotherapy. To date the molecular mechanisms underlying multidrug resistance remain poorly defined. Here, we integrate single-cell transcriptomics, clinicopathological analysis, and functional genomics to elucidate the molecular basis of cisplatin resistance in iCCA. Approach and ResultsSingle-cell RNA sequencing of iCCA and adjacent liver tissues revealed pronounced expression of Y-box-binding protein 1 (YB-1) in aneuploid malignant cholangiocarcinoma cells, with YB-1 expression progressively increasing during malignant evolution and strongly associated with chemoresistance. Clinically, elevated YB-1 expression-particularly its nuclear localization-robustly predicts poor overall survival and chemotherapy failure in patients with iCCA. Mechanistically, we demonstrate that cisplatin induces phosphorylation-dependent nuclear translocation of YB-1, enabling direct transcriptional activation of the drug efflux transporter ABCB1. Importantly, this process requires ABCB1 promoter demethylation, which is driven by cisplatin-induced, mA-dependent destabilization of DNMT1 and DNMT3B mRNAs. This destabilization occurs through disruption of the YB-1-IGF2BP1/3-DNMT mRNA stabilizing complex and subsequent recruitment of DNMT transcripts to YTHDF2-mediated processing bodies for degradation. ConclusionsOur findings uncover a previously unrecognized YB-1-mA-DNMT regulatory axis that drives chemotherapeutic resistance in iCCA, highlighting YB-1 as both a prognostic biomarker and a promising therapeutic target.

molecular biology↗

Interpreting and Validating a Deep Learning Model Predictive of Spatial Morphologic-Molecular Patterns in Lung Adenocarcinoma, Using Ground Truth Immunohistochemistry

Lung adenocarcinoma (LUAD), the most common subtype of non-small cell lung cancer, exhibits profound histological and molecular heterogeneity. While genomic profiling has identified key oncogenic drivers and immune signatures, its use is limited by cost, technical demands and tissue availability. In addition, spatial transcriptomics provides spatially resolved molecular insights but remains challenging and time-consuming. To address this gap, we developed XpressO-Lung, an explanatory deep learning model that predicts gene expression heterogeneity spatially in tumor and its microenvironment on hematoxylin and eosin based diagnostic (Dx) whole-slide images (WSIs) by learning associations between tissue morphology and the corresponding bulk-transcriptomic data. Utilizing 200 LUAD cases from The Cancer Genome Atlas, XpressO-Lung predicted spatial expression patterns of NAPSA, TP53I3, CD8A, TTF1, KRT7, CDKN2A, FOXO1, KEAP1, RB1 and TP53 on Dx-WSIs with AUCs ranging from 0.64 to 0.92. The predicted spatial gene expression patterns aligned with the known morphologic interactions of the tumor and its microenvironment, capturing biological events directly on Dx-WSIs. These spatio-morpho-molecular associations were further validated using immunohistochemistry on an external set of clinical samples at Dartmouth Health, demonstrating concordance between model-predicted spatial patterns and observed histomorphologic features. By coupling predictive performance with spatial interpretability of gene expression on Dx-WSIs, the XpressO-Lung model bridges histopathology and bulk-transcriptomics, enabling explainable spatio-morpho-genomic analyses to advance biomarker discovery, therapeutic stratification and precision oncology in LUAD.

pathology↗

A recurrent neural network model of chronic pain development and recovery

Chronic pain presents a leading challenge in the world today for both clinicians and researchers. Because chronic pain is difficult to explain and treat, it is often managed with opioids despite providing limited relief and contributing to dependence and misuse. Persistent pain can be maintained by altered central nervous system processing even in the absence of distinct tissue damage or disease, which may limit the efficacy of conventional pharmacological therapies that target nociceptive signal transmission rather than maladaptive central nervous system dynamics often present in those with chronic pain. Although neuroimaging studies have identified this shift from nociceptive to emotional circuits during pain chronification, a quantitative framework linking these neural changes to longitudinal pain trajectories or recovery is lacking. We present a parsimonious firing-rate model that can account for the development of and recovery from chronic pain, which is based on the theoretical framework established by Wilson and Cowan. The model provides a quantitative explanation of how sensitization, anxiety, and fear maintain pain even after an injury has healed, and how calming stimulus downregulates these processes to facilitate recovery. A study applying the same principles as the model produced an average pain decrease of 3.5 on the Visual Analog Scale (VAS), with all subjects experiencing a reduction in pain. These results, coupled with our model and findings in prior studies, suggest that increasing calming stimulus can reduce pain without necessitating pharmacological or invasive, resource-intensive interventions.

neuroscience↗

Integrated single-cell and bulk transcriptomic analysis leverages liver metastasis-related genes to develop a prognostic model for colorectal cancer patients

PurposeDifferentially expressed genes (DEGs) between colorectal cancer liver metastasis (CRLM) epithelium and primary colorectal cancer (CRC) epithelium (LMR DEGs) identified based on single-cell RNA sequencing (scRNA-seq) data may become new biomarkers for CRC prognosis. MethodsAn scRNA-seq dataset was used to describe the cellular landscape of primary CRC and CRLM and identify LMR DEGs. Prognostic LMR DEGs were identified in the bulk RNA-seq dataset. Based on the prognostic LMR DEGs, multiple machine learning algorithm combinations were compared in terms of their C-index, and the best model was selected for the construction of the LMR score. ResultsAmong the 2070 LMR DEGs, 426 prognostic LMR DEGs were ultimately obtained. The combination of the randomized survival forest (RSF) model and ridge regression had the highest C-index and was therefore used to construct a 15-gene scoring system (LMR score). In the external validation set, the 1- and 5-year AUCs of the LMR score were greater than those of the AJCC stage and other scoring systems constructed with a similar dataset. In addition, the LMR score was closely associated with factors that influence CRC outcomes, such as immune infiltration. ConclusionThe LMR score may be a reliable new biomarker for predicting the prognosis of patients with CRC.

cancer biology↗

In vivo-compatible spatial multi-omics via hydrogen peroxide-independent APEX2 labeling

Proximity labeling (PL) technologies like APEX2 have transformed spatial multi-omics in live cells, but their long-standing dependence on hydrogen peroxide (H2O2) disrupts redox signaling and prevents use in live animals. Here we introduce H2O2-independent APEX2 (Hi-APEX), which uses a clickable tetrazine-phenol probe, requiring no enzyme engineering. We show that APEX2 directly catalyzes TP radical formation without H2O2 via a mechanism requiring the probes tetrazine group and a key histidine residue. We benchmarked Hi-APEX-based spatial multi-omics by mapping the mitochondrial matrix and dynamic secretomes. Hi-APEX significantly outperforms traditional APEX in capturing redox-sensitive processes such as stress response and ferroptosis, enabling discovering authentic stress granule components and protein interaction networks for mitochondria-localized GPx4. One mGPx4 interactor TRMT61B--known to regulate mitochondrial m{superscript 1}A modifications--promotes ferroptosis. Crucially, Hi-APEX achieves full in vivo compatibility, enabling direct PL in tumor xenografts and hippocampal neurons, thereby expanding PL-based spatial multi-omics from cellular systems to living organisms.

biochemistry↗

MONICA: A Web Application for Automated Whole Optic Nerve Contour Extraction and Morphometric Analysis Validated Across Taxonomic Orders and Image Quality Levels

Quantitative assessment of optic nerve health requires metrics beyond axon counts alone. Axon density and glial coverage fraction correlate with clinical measures of visual function, yet no existing automated tool extracts optic nerve cross-sectional boundaries to enable their calculation. We developed MONICA (Morphometrics from Optic Nerve Imaging Contour Analysis), a web application that integrates AxonDeepSeg deep learning segmentation with a novel morphology-based contour extraction algorithm to automatically derive whole nerve boundaries alongside axon and myelin masks. The contour extraction algorithm was validated against manual ground truth annotations using 15 optic nerve cross-sections spanning two taxonomic orders (mouse, rabbit), two mouse strains (BXD29, BXD51), and varying preparation quality levels (modern and archival samples). Automated contour extraction demonstrated excellent agreement with manual annotations, achieving an overall Dice similarity coefficient (a measure of segmentation overlap) of 0.987 {+/-} 0.009. Balanced precision (0.985) and recall (0.989) values indicated that the algorithm neither systematically over-segments nor under-segments nerve boundaries. MONICA requires no local software installation and runs entirely in-browser, providing batch processing for high-throughput phenotyping alongside a full suite of per-axon morphometrics. MONICA provides researchers with an accessible tool for complete nerve cross-section morphometry.

neuroscience↗

Rational design of synthetic proteins using a genome-scale CRISPR screen

Protein structure prediction using deep learning has revolutionized protein design. Yet, our understanding of protein function remains a key limitation for designing novel proteins that perform complex biological tasks. Here, we adopt a massively-parallel, function-first approach to rationally design synthetic proteins. Using genome-scale CRISPR activation, we overexpress [~]19,000 human proteins and measure their impact on precise gene editing. We identify over 800 native proteins that promote homology-directed repair. Using top candidates, we then design synthetic genome editors -- Targeted Repair fUsion Editors (TruEditors) -- by fusing full-length proteins or smaller core domains to the Cas9 nuclease. We develop 12 unique TruEditors that improve precise gene editing in diverse cell types and at genomic loci where existing methods for precise gene editing fail. Using affinity proteomics, we show that these synthetic proteins work by coordinating with endogenous DNA repair complexes. The delivery of TruEditors via mRNA more than doubles the rate of chimeric antigen receptor (CAR) insertion into the TRAC locus of primary human T cells, enhancing CAR T cell-directed tumor cell killing, and improves precise editing in human pluripotent stem cells more than three-fold. Overall, our study demonstrates that genome-wide protein overexpression screens can guide the rational design of synthetic proteins for specific biological tasks.

bioengineering↗

Enhanced Hi-C Capture Analysis reveals complex regulatory architecture at the PICALM-EED locus for Alzheimer Disease

ObjectiveBoth the phosphatidylinositol binding clathrin assembly protein gene (PICALM) and the embryonic ectoderm development gene (EED) have been implicated as causal genes driving a genome-wide association for Alzheimer disease (AD) risk. We employed a new virtual approach using genome-wide chromatin interactions (Hi-C) called enhanced Hi-C Capture Analysis (eHiCA) to identify the genes and regulatory regions that are driving this important AD risk association. MethodsHi-C data from the frontal cortex of eight AD patients, as well as inducible pluripotent stem cell-derived microglia and spheroids of AD and control patients were used. We applied 14 eHiCA baits each containing a GWAS SNP to identify the cis regulatory interactions in this GWAS locus at a 5kb resolution. ResultsThe baits derived from the GWAS associated haplotype primarily interacted with the PICALM promoter and the large cis-regulatory elements cluster (CREe) lying upstream of the EED promoter. The EED promoter interacts with PICALM gene body and promoter region but not directly with the associated risk haplotype. Although the AD-associated variants segregate together as a haplotype in the population, each bait exhibited distinct functional chromatin interactions. InterpretationThe PICALM gene is the primary driver of the association in microglia along with the CREe locus. Different SNPs in a segregating haplotype can display different physical Hi-C interactions. This study demonstrates that eHiCA can help resolve the casual genes driving complex GWAS associations, opening new pathways to study Alzheimer disease and other disorders.

genomics↗