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Jain, A.

Publications and source records attributed to Jain, A..

At least 73 records · Page 4Linked to original sources

Superior batch alignment and hyper-dimensional cytometry representations allow ultra-sensitive classification of disease phenotypes

Analysis of cytometry data predominantly relies on clustering and dimensionality reduction approaches for computational tractability. This is particularly relevant for modern spectral flow cytometers, which can simultaneously measure an increasingly large number of antibody marker channels. While dimensionality reduction provides for more efficient data processing, this comes at the expense of data loss that may miss subtle patterns among rare cell types that may be critical for disease detection. Maintaining analysis at full dimensions presents opportunities to preserve resolution and provides complete downstream data interpretability. However, a significant obstacle to analysis of cytometry data without dimensionality reduction is the significant batch effects observed in this data between experiment days, operators and equipment types. Here we show a new strategy to denoise batch variation from both flow- and mass-cytometry datasets using an autoencoder neural network architecture. We generated a benchmark flow cytometry dataset in mice to compare this approach to current toolsets and find our approach shows superior preservation of biological signals, whilst also performing batch correction equal to current best methodology. Our batch alignment approach works to such an extent that it becomes practically possible to project batch aligned data into multidimensional space to generate a novel representation of cellular phenotype for downstream model building. This hyperdimensional approach maintains original data resolution without requiring dimensionality reduction, and thus any resultant cell populations that differentiate phenotypes remain fully interpretable. We show with two large clinical datasets that our batch-alignment approach coupled with the multi-dimensional representation successfully detects meaningful patterns in cases where the original analysis methods struggled. This new framework removes some of the inherent technical limitations encountered in the integration of large, multi-batch cytometry datasets and provides a framework for machine learning model building from this modality. An implementation of this framework and an associated web application accompanies this manuscript at http://voxelcoder.cloud. Significance StatementThis work addresses a critical bottleneck in cytometry analysis by introducing a neural network-based approach that effectively removes technical batch variation while preserving biological signals. The novel hyperdimensional representation maintains full data resolution without dimensionality reduction, enabling more sensitive detection of disease-associated cellular signatures than current methods. Importantly, this framework enables reliable batch normalization of fresh samples processed at different times and locations, overcoming the practical constraints of clinical sample collection where simultaneous processing is often impossible. The enhanced sensitivity for identifying pathogenic cellular patterns has immediate implications for biomarker discovery and personalized medicine applications.

systems biology↗

Changes in habitat connectivity for range-restricted birds reflect patterns of woodland invasion

Habitat fragmentation and landscape change are common causes of concern for species persistence, especially for habitat specialists. The composition of the matrix surrounding habitat fragments influences connectivity between them, which affects gene flow across the landscape. This can further impact populations in various ways. The Shola Sky Island landscapes naturally comprise a biphasic, forest-grassland mosaic ecosystem unique to the high-altitude regions of the Western Ghats of India. Earlier, this mosaic consisted of patches of native cloud forests embedded in a large grassland matrix. Over the last few decades, however, extensive invasion (up to 60%) of timber species into native grasslands has inverted this mosaic, i.e., small patches of grasslands are nested in a woodland matrix. We attempt to study the effects of these modifications on functional habitat connectivity in this region by modelling species movement using a circuit theory-based algorithm. We do this for seven Shola endemic, range-restricted bird species; six forest-specialist and one grassland-specialist species, based on a decade of field data. We consider a range of species-environment relationships and dispersal capacities for a past, relatively uninvaded landscape and a present, highly modified landscape. We used bird occupancy data (presence/absence from a total of 720 grid cells from targeted occupancy surveys for forest species and 744 presence locations for grassland species from occupancy surveys combined with opportunistic records) along with remotely sensed landscape, vegetation, climatic and topographic variables. We find that connectivity has increased overall for forest specialists, but has reduced for the grassland species. This pattern is concordant with regions where woodland cover from invasive timber species has expanded over approximately two decades. We also identify species-specific areas of low and high connectivity, which may have implications for gene flow within the landscape. This would help focus conservation efforts and predict how future landscape change might affect species persistence.

ecology↗

Polyamines buffer labile iron to suppress ferroptosis

Polyamines are essential and evolutionarily conserved metabolites present at millimolar concentrations in mammalian cells. Cells tightly regulate polyamine homeostasis through complex feedback mechanisms, yet the precise role necessitating this regulation remains unclear. Here, we show that polyamines contribute to endogenous buffering of redox-active iron, providing a molecular link between polyamine metabolism and ferroptosis. Using a genome-wide CRISPR screen, we identified a synthetic lethal dependency between polyamine depletion and the key ferroptosis suppressor, GPX4. Mechanistically, we show that polyamine deficiency triggers a redistribution of cellular iron, increasing the labile iron pool and upregulating ferritin. To directly visualize this iron buffering in living cells, we developed a genetically encoded fluorescent reporter for redox-active iron. Live-cell analysis revealed a striking inverse correlation between intracellular polyamine levels and redox-active iron at single-cell resolution. These findings reposition polyamines as key regulators of iron homeostasis, with implications for ferroptosis-linked disease states and cellular redox balance.

cell biology↗

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease

Aggregation of TAR DNA-binding protein 43 (TDP-43) is strongly associated with frontotemporal lobar degeneration (FTLD-TDP), motor neuron disease (MND-TDP), and overlap disorders like FTLD-MND. Three major forms of motor neuron disease are recognized and include primary lateral sclerosis (PLS), amyotrophic lateral sclerosis (ALS), and progressive muscular atrophy (PMA). Annexin A11 (ANXA11) is understood to aggregate in amyotrophic lateral sclerosis (ALS-TDP) associated with pathogenic variants in ANXA11, as well as in FTLD-TDP type C. Given these observations and recent reports of ANXA11 variants in patients with semantic variant frontotemporal dementia (svFTD) and FTD-MND presentations, we sought to characterize ANXA11 proteinopathy in an autopsy cohort of 379 cases with FTLD-TDP, as well as FTLD-MND and MND-TDP cases subclassified neuropathologically into PLS, ALS, and PMA. All FTLD-TDP type C cases had ANXA11 proteinopathy. However, ANXA11 proteinopathy was present in over 40% of FTLD-MND and in 38 out of 40 FTLD-PLS cases (95%), of which 80% had TDP type B or an unclassifiable TDP-43 proteinopathy and 15% had TDP type C. Genetic analyses excluded pathogenic ANXA11 variants in all ANXA11-positive cases. We thus demonstrated novel forms of ANXA11 proteinopathy strongly associated with FTLD-PLS, but not with TDP type C or pathogenic ANXA11 variants. Given the emerging relationship of ANXA11 in TDP-43 proteinopathies, we propose that TDP-43 and ANXA11 proteinopathy (TAP) comprises the molecular pathology of cases with abundant inclusions that are co-immunoreactive for both proteins and we subclassify three types of TAP based on distinct clinical and neuropathologic features.

neuroscience↗

Gαq-stimulated gene expression is insensitive to Bromo extra terminal domain inhibitors in HEK 293 cells

Bromodomain and extraterminal domain (BET) family proteins are ubiquitous transcriptional co-activators that function broadly in gene expression programs associated with cellular differentiation, proliferation, and stress responses. Pharmacological inhibition of BET proteins with small molecules that disrupt bromodomain engagement with acetyllysine residues (such as JQ1), or that drive their degradation through the ubiquitin-proteasome system (such as dBET6), ameliorates pathological gene expression in a range of systems and shows promise as a potential therapeutic strategy. BET involvement in gene expression responses is not universal, and understanding of the cell-type and signaling pathway requirements that dictate BET dependence remains incomplete. We previously demonstrated that, in neonatal rat cardiomyocytes, GPCR-induced hypertrophy response depended strongly on the BET protein Brd4 when signaling was coupled to Gs, but not Gq. Here we tested whether Brd4 was differentially responsive to G protein isoforms in HEK 293 cells by expressing Gs or Gq-coupled Designer Receptors Exclusively Activated by Designer Drugs (DREADDs). Gq induced expression of a group of early response genes and inflammatory genes in a manner largely insensitive to pharmacological BET inhibition, consistent with our previous data in cardiomyocytes. Gs activated a small subset of the Gq-induced genes, but this effect was largely reversed by the BET degrader molecule dBET6. Our data further suggest that there may be general signaling requirements to activate Brd4 across cell types. Highlights- We tested whether Bromodomain and extraterminal domain (BET) family proteins were differentially responsive to G protein isoforms in HEK 293 cells by expressing Gs or Gq-coupled Designer Receptors Exclusively Activated by Designer Drugs (DREADDs). - Gq induced expression of a group of genes but was largely insensitive to pharmacological BET inhibition, consistent with our previous data in cardiomyocytes. - Gs activated a small subset of the Gq-induced genes, but was sensitive to the BET degrader molecule dBET6. - Distinct G protein-dependent effects may be conserved across cell types.

molecular biology↗

EGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in Kcna1-null Mice

KCNA1 encodes the -subunit of the voltage-gated potassium channel KV1.1. Mutations in KV1.1s pore domain result in developmental and epileptic encephalopathy (DEE), where early life seizures and a culprit lesion synergistically disrupt neurodevelopmental trajectories, resulting in intellectual disability that often presents with disturbances in sleep, sociability and sensory processing. Abnormalities in the subcellular localization of Kv1.1, via mutations in/autoantibodies against LGI1 and CNTNAP2, also give rise to syndromes of epilepsy and neuropsychiatric impairment. Mice with deletions of Kcna1("-/-") display spontaneous seizures at 2-3 weeks of age and premature mortality. In this study, we applied instrumented home-cage monitoring to examine how aberrations in KCNA1 expression may result in pervasive alterations in spontaneous behavior. Compared to wildtype, Kcna1-/- mice displayed a robust multifaceted behavioral syndrome featuring marked nocturnal hyperactivity, insomnia, reduced sheltering, fragmented feeding/drinking rhythms, sensory over-responsivity and diminished wheel-running. In identical recordings, Kcna1+/- mice only displayed increased sheltering, Lgi1+/- mice displayed mild insomnia and Cntnap2-/- mice showed home-cage hypoactivity. Kcna1 loss in parvalbumin-positive interneurons (Pv-Cre) resulted in a subtle phenocopy, with mild insomnia accompanied by reduced sheltering behavior, while similar deletions in forebrain pyramidal neurons (Emx1-Cre) or dopaminergic neurons (DAT-Cre) were asymptomatic. Adult-onset conditional deletions of Kcna1 also produced only mild insomnia 6 weeks later. To survey the molecular landscape in Kcna1-/- mice, we conducted a mass spectrometry proteomic analysis of dissected hippocampal tissue (a predominant seizure onset zone and where astrogliosis is observed). This revealed significant upregulations in BDNF (brain-derived neurotrophic factor) and the immediate early transcription factor EGR3 (early growth response-3), which is necessary for the induction of BDNF following electroconvulsive seizures. Heterozygous or homozygous deletions of Egr3 in Kcna1-/- mice resulted in significant survival prolongation, a partial neurobehavioral rescue, and a significant improvement in the frequency of spontaneous seizures and spreading depolarization events. These clinical improvements were associated with an amelioration of BDNF induction, hippocampal astrogliosis and proteomic disturbances. Together, these data illustrate how an ion channel that governs excitability at millisecond scales also shapes the spatiotemporal structure of spontaneous behavior at meso- or macroscopic time scales. Our results provide a model and a set of precision endpoints to understand how ictal and interictal features of DEE may be ameliorated by inhibiting the long-term downstream transcriptional alterations imparted by early life seizures.

neuroscience↗

Brain Stroke Prediction: A PSO Optimized Stacked Ensemble Machine Learning Approach with SMOTEEN Data Balancing

Prediction of stroke is a critical challenge in healthcare, where early intervention can significantly reduce risks and improve patient outcomes. Traditional methods often struggle with imbalanced datasets and low prediction accuracy. This paper proposes a novel approach to address these issues by combining PSO-optimized Stacked Ensemble ML Classifiers with SMOTEEN data balancing to predict strokes effectively. The technique optimizes 3 Baseline ML Classifiers(RF, SVM, XGB) using Particle Swarm Optimization (PSO) and Stacked Ensemble approach is applied that significantly improving prediction performance. The proposed methodology achieved an impressive 95.57% accuracy, outperforming conventional models such as SVM, LR, RF, KNN, XGB. Overall, the PSO-optimized stacked ensemble approach outperforms traditional machine learning techniques in stroke prediction, providing a more accurate and robust model for early detection and intervention.

bioengineering↗

Antigen-specific Th17 T cells offset the age-related decline in durable T cell immunity

Older adults are susceptible to infections, in part due to waning of immune memory. To determine mechanisms that determine long-lasting versus short-term immunity, we examined varicella zoster virus (VZV) vaccination as a model system. We contrasted VZV antigen-specific T cells several years after vaccination in adults who had been vaccinated at young (<20 years) or older age (>50 years) with a live-attenuated vaccine that confers durable protection only when given at young age, or with an adjuvanted VZV component vaccine that elicits effective, long-lasting immunity in older adults. CD8+ T cells were highly sensitive to age-related changes showing T cell subset shifts, loss in TCR diversity and reduced stem-like features while gaining NK-like signatures without evidence for cellular senescence or exhaustion. VZV-specific CD4+ T cells were largely resilient to age and maintained phenotypic and TCR diversity. Immunization of older adults with the adjuvanted VZV vaccine did not reverse age-associated defects in CD8+ T cells. Instead, it selectively improved the functionality of VZV-specific Th17 CD4+ T cells and prevented their acquisition of Treg features, likely as consequence of lipid metabolic pathways. Collectively, our data indicate that effective vaccination in older adults is supported by the generation of a durable, antigen-specific CD4+ Th17 population that resists mis-differentiation into Tregs and that compensates for age-related defects in CD8+ T cells. One sentence summaryAging primarily impairs the CD8+ T cell VZV vaccine response, while effective VZV vaccination in older adults induces antigen-specific Th17 CD4+ T cells to compensate for aging defects.

immunology↗

Transcriptome-wide RNA accessibility mapping reveals structured RNA elements and pervasive conformational rearrangements under stress

RNA structure plays a central role in post-transcriptional gene regulation, modulating RNA stability, translation, and interactions with RNA-binding proteins (RBPs). However, capturing RNA conformations at scale remains challenging. Here, we introduce DMS-TRAM-seq (Dimethyl Sulfate-Transcriptome-wide RNA Accessibility Mapping by sequencing), which probes RNA structure across nearly the entire transcriptome. Using DMS-TRAM-seq, we generated secondary structure predictions for over 9,000 human transcripts, including hundreds of non-coding RNAs, and identified more than 700 previously unannotated, high-confidence structured elements. Importantly, the enhanced coverage provided by DMS-TRAM-seq enabled comparative analyses, revealing RNAs that undergo structural rearrangements in response to cellular perturbations. Integration with RBP motifs and ribosome profiling uncovered altered RNA-RBP interactions during oxidative stress and showed that translation inhibition broadly drives RNAs toward their thermodynamically favored conformations. DMS-TRAM-seq enables interrogation of the RNA structurome and its plasticity at an unprecedented scale, opening new directions for elucidating the structural basis of RNA regulation.

molecular biology↗

Spatial patterns of diversity in forest birds of peninsular India

Biodiversity is structured via complex interactions among ecological, geological, and climatic processes. Regions with high heterogeneity in climate and topography are known to harbor fine scale patterns in diversity which are often overlooked in global scale analyses. Here, we investigate spatial phylogenetic patterns of forest bird diversity across peninsular India, a region with high topographic and climatic heterogeneity. Using a comprehensive global bird phylogeny, we employ metrics such as Phylogenetic Diversity (PD), Phylogenetic Endemism (PE), and their relative forms (RPD, RPE) to quantify evolutionary history and endemism of forest birds in peninsular India. We examine the roles of contemporary climate, historic climatic stability, and topography in shaping these patterns. Our results reveal a strong gradient in diversity, with the southern Western Ghats acting as a major hotspot for both taxonomic and phylogenetic diversity and endemism. We detect distinct ecological and phylogenetic community structures across the peninsula, likely shaped by regional species pools and biogeographic barriers. Areas with greater topographic complexity, higher precipitation, and greater historic climatic stability were found to support high diversity. Our study provides critical insights for biogeography in this understudied yet highly biodiverse region for forest birds.

ecology↗

LOSS OF ROR2 TYROSINE KINASE RECEPTOR IS ASSOCIATED WITH ENDOTHELIAL DYSFUNCTION IN PAH VIA INAPPROPRIATE INTEGRIN BETA 1 ACTIVATION

RationaleEndothelial dysfunction is a key feature of pulmonary arterial hypertension (PAH). We previously identified Wnt7a, a ligand of the Wnt planar cell polarity (PCP) pathway, as essential for pulmonary angiogenesis, with its loss linked to PAH. Given the importance of Wnt/PCP to lung endothelial function and angiogenesis, our goal is to elucidate how Wnt/PCP regulates angiogenic responses in pulmonary microvascular endothelial cells (PMVECs). ROR2, a tyrosine kinase receptor specific to Wnt/PCP, is crucial for cardiovascular development, but its role in PAH is unclear. We hypothesized that ROR2 supports endothelial homeostasis, and its loss would impair angiogenesis, contributing to PAH. MethodsEndothelial-specific ROR2 knockout (ROR2 ECKO) and wild-type (WT) mice were studied under normoxia and chronic hypoxia using echocardiography, hemodynamics, and lung morphometry. PMVECs from healthy and PAH lungs were transfected with ROR2 siRNA/constructs for functional and molecular studies. Focal adhesion (FA) activation and force generation were assessed via FRET-based methods. Bulk and single-cell transcriptomic analyses were performed on siROR2 PMVECs and ROR2 ECKO lungs. ResultsROR2 ECKO mice exhibited worsened pulmonary hypertension, right ventricular remodeling, microvascular loss, and muscularization in hypoxia. Single-cell RNA sequencing of lung endothelial cells showed dysregulation of pathways involved in barrier formation and angiogenesis. Evans blue dye extravasation confirmed reduced endothelial barrier integrity in ROR2 ECKO mice. ROR2-deficient PAH PMVECs displayed increased adhesion, permeability, and FA numbers, with reduced VE-cadherin at cell junctions. Confocal imaging revealed ROR2 localization in FAs, interacting with integrin {beta}1 (ITGB1). FRET analysis showed that ITGB1 remained in an active, adhesion-promoting state in ROR2-deficient cells. Restoring ROR2 in PAH PMVECs normalized adhesion, barrier function, and FA abundance. Transcriptomic analysis identified Rab12 as a key mediator of ROR2-ITGB1 crosstalk, with Rab12 knockdown mimicking ROR2 deficiency in PMVECs. ConclusionsROR2 regulates pulmonary angiogenesis by maintaining endothelial barrier integrity and facilitating integrin recycling. Restoring ROR2 signaling could be a potential therapeutic approach for PAH.

cell biology↗

Convergence and constraint in glucosinolate evolution across the Brassicaceae

Diversity in plant specialized metabolites plays critical roles in plant-environment interactions. In longer evolutionary scales, e.g. between families or orders, this diversity arises from whole-genome and tandem duplication events. Less is known about the evolutionary patterns shaping chemical diversity at shorter scales, e.g. within a family. Utilizing the aliphatic glucosinolate pathway we explored how the terminal structural modification enzyme GSL-OH evolved across the Brassicaceae and the genomic processes that control presence-absence variation of its products (R)-2-hydroxy-but-3-enyl and (S)-2-hydroxy-but-3-enyl. We implemented a phylo-functional approach where we functionally validated GSL-OH orthologs across the Brassicaceae and used that information to map the genomic origin and trajectory of the loci. This uncovered a complex mechanism involving at least three ancestral loci with extensive gene loss across all species creating unequal retention across the phylogenetic relationships. Convergent evolution in enantiomeric specificity was observed where several independent species had tandem duplicates diverged towards producing the R or S enantiomers. To explore potential biological differences between the enantiomers, we performed Trichoplusia ni insect assays and Botrytis cinerea detached leaf assays. We found that plants with the S enantiomer were more susceptible to B. cinerea infection while plants with the R enantiomer seemed more susceptible to T. ni herbivory. This variation in activity between the precursor and different enantiomeric products may shape the recurrent evolution of their production.

plant biology↗

Deciphering ESR1-driven transcription in human endometrial stromal cells via transcriptome, cistrome, and integration with chromatin landscape

ObjectiveTo investigate ESR1 and estrogen-driven transcription in human endometrial stromal cells. DesignTelomerase-immortalized human endometrial stromal cells were engineered to activate ESR1 using the CRISPR activation system and treated with vehicle or E2. Primary endometrial stromal cells were treated with vehicle or decidualization cocktail. SubjectsBiopsies from two healthy, reproductive-aged volunteers with regular menstrual cycles and no history of gynecological malignancies. Main Outcome MeasuresBulk RNA-sequencing in ESR1-activated and E2-treated cells was compared to identify ligand-independent and -dependent ESR1 actions. Cut&Run was performed in ESR1-activated cells treated with E2 or vehicle to assess the ESR1 cistrome. H3K27ac HiChIP was conducted in primary endometrial stromal cells treated with vehicle or decidualization cocktail to identify hormonally induced chromatin interaction changes. ResultsAmong six tested guide RNAs, the ESR1-3 gRNA induced robust ESR1 activation, which restored E2 responsiveness in THESC. Bulk RNA-seq revealed ESR1-mediated E2-dependent and E2-independent transcriptional programs, regulating pathways involved in inflammation, proliferation, extracellular matrix organization, and cancer. Notably, 72% of differentially expressed genes (DEGs) overlapped with genes active in human endometrial tissue during the proliferative E2 dominant phase, supporting their physiological relevance. Cut&Run-seq identified genome-wide ESR1 binding sites, with most located at distal regulatory elements. To associate distal ESR1 binding sites with genes, we integrated H3K27ac HiChIP chromatin loops in hESC to identify distal ESR1 binding sites that loop to gene promoters. We identified genes regulated by ESR1/E2 through long-range chromatin looping that are involved in stromal cell decidualization, including FOXO1 and IL6R. Additionally, we identified genes implicated in endometrial cancer, including ERRFI1, NRIP1, and EPAS1, suggesting a role for stromal ESR1 driven endometrial pathologies. Functional assays confirmed that ESR1 promotes cell viability and, in the presence of E2, enhances migration. ConclusionsESR1 activation through CRISPR restores E2 responsiveness in endometrial stromal cells. Changes to chromatin architecture support gene expression changes that drive decidualization. Integration of ESR1/E2 transcriptome and cistrome with HiChIP data identifies its role in regulating inflammation, proliferation, and decidualization, as well as its implications in endometrial cancer. This model serves as a powerful tool to study estrogen signaling in endometrial stromal biology and related pathologies.

molecular biology↗

Close-Up of vesicular ER Exit Sites by Volume Electron Imaging using FIB-SEM

Volume electron microscopy by high-pressure freeze substitution combined with block-face focused ion beam scanning electron microscopy (FIB-SEM) provides comprehensive 3D views of subcellular architecture, essential for understanding cellular activity in context. Aided by Automated Segmentation in Electron Microscopy (ASEM)--a 3D-Unet convolutional neural network trained with sparse annotations--we characterized the spatial organization of endoplasmic reticulum exit sites (ERES), the initial locations for membrane remodeling in protein secretion, in cells not overexpressing secretory cargo. The ASEM model, trained on 50-70 nm in diameter COPI vesicles, successfully identified vesicles adjacent to the Golgi apparatus of HeLa, SVG-A, and iPSC-derived neurons. It also revealed abundant vesicles of similar appearance, often within a group of [~]5-40 vesicles clustered within a 250 nm3 region adjacent to flattened endoplasmic reticulum (ER) domains, forming what we propose are COPII-mediated vesicular ER-exit sites. Elsewhere, similar assemblies appeared alongside tubular ER networks emerging from similarly enlarged ER domains previously reported as the only ERES in HeLa cells. These findings underscore the power of large-scale volume electron microscopy to resolve contradictions regarding membrane organization in vesicular trafficking. We encourage the scientific community to use our publicly accessible repository, containing open-source code, trained models, annotations, predictions, and FIB- SEM datasets, to facilitate continued advances in automated segmentation methods. SummaryNair et. al. show abundance of vesicular ERES in mammalian cells imaged by volume focused ion beam electron microscopy.

cell biology↗

UnitRefine: A Community Toolbox for Automated Spike Sorting Curation

High-density electrophysiology simultaneously captures the activity from hundreds of neurons, but isolating single-unit activity still relies on slow and subjective manual curation. As datasets keep increasing, this poses a major bottleneck in the field. We therefore developed UnitRefine, a classification toolbox that automates curation by training various machine-learning models directly on human expert annotations. Fully integrated in the SpikeInterface ecosystem, UnitRefine combines established and novel quality metrics, cascading classification and comprehensive hyperparameter search to provide optimized models for different applications. UnitRefine achieves human-level performance across diverse datasets, spanning species, probe types, and laboratories, including recordings from mice, rats, mole rats, primates, and human patients. Applied to a large brain-wide dataset, UnitRefine doubled single unit yield and improved behavioral decoding performance. A streamlined graphical interface allows models to be fine-tuned to new datasets and shared via the Hugging Face Hub, enabling broad adoption and community-driven improvement of automated curation workflows.

neuroscience↗

Pex30-dependent membrane contacts sites maintain ER lipid homeostasis

In eukaryotic cells, communication between organelles and the coordination of their activities depend on membrane contact sites (MCS). How MCS are regulated under the dynamic cellular environment remains poorly understood. Here, we investigate how Pex30, a membrane protein localized to the endoplasmic reticulum (ER), regulates multiple MCS in budding yeast. We show that Pex30 is critical for the integrity of ER MCS with peroxisomes and vacuoles. This requires the Dysferlin domain (DysF) on Pex30 cytosolic tail. This domain binds to phosphatidic acid (PA) both in vitro and in silico, and it is important for normal PA metabolism in vivo . The DysF domain is evolutionarily conserved and may play a general role in PA homeostasis across eukaryotes. We further show that ER-Vacuole MCS requires Pex30 C-terminal Domain of Unknown Function and that its activity is controlled by phosphorylation in response to metabolic cues. These findings provide new insights into the dynamic nature of MCS and their coordination with cellular metabolism.

cell biology↗

Improved Spatial Transcriptomics Clustering with Nested Graph Neural Networks

We introduce a novel approach, STING, for spatial transcriptomic clustering analysis. Unlike existing state-of-the-art techniques that use graph-based neural networks (GNNs) trained on graphs generated from the spatial proximity of tissue locations (or spots), STING incorporates spot-specific related genes. This feature allows STING to better distinguish between clusters and identify meaningful gene-gene relations for knowledge discovery. It is a nested GNN framework that simultaneously models gene-gene and spatial relations. Using the gene expression, we generate a spot-specific gene-gene co-expression graph. We implement an inner GNN for these graphs to generate embeddings for each location. Next, we utilize these embeddings as features in a sample-wide graph generated using spatial information. We implement an outer GNN for this graph to reconstruct the original gene expression data. Finally, STING is trained end-to-end to generate embeddings that capture gene-gene and spatial information, which we input to a clustering algorithm to produce the spatial clusters. Experiments for 26 samples across 7 datasets and 5 spatial sequencing technologies show that STING outperforms the existing state-of-the-art techniques with a 1.58% to 4.07% improvement in the clustering evaluation metric, thus confirming that integrating gene-gene relation information with the clustering task leads to more informative embeddings and better clusters. Furthermore, experiments on a human breast cancer dataset show that STING identifies relevant genes and gene-gene relations, enabling biological hypothesis generation.

bioinformatics↗

Mechanism of forced-copy-choice RNA recombination by enteroviral RNA-dependent RNA polymerases

Forced-copy-choice recombination occurs at the end of a template, differing from copy-choice recombination, which happens at internal positions. This mechanism may produce full-length genomes from fragments created by host antiviral responses. Previous studies from our laboratory demonstrated that poliovirus (PV) RNA-dependent RNA polymerase (RdRp) switches to an "acceptor" template in vitro when initiated on a heteropolymeric RNA-primed "donor" template. Surprisingly, recombinants showed template switching from the 3-end of the donor template. We have developed a primed-template system to study PV RdRp-catalyzed forced-copy-choice RNA recombination. PV RdRp adds a single, non-templated nucleotide to the 3-end of a blunt-ended, double-stranded RNA product, forming a "plus-one" intermediate essential for template switching. Non-templated addition of CMP was favored over AMP and GMP (80:20:1); UMP addition was negligible. A single basepair between the plus-one intermediate and the 3-end of the acceptor template was necessary and sufficient for template switching, which could occur without RdRp dissociation. Formation of the plus-one intermediate was rate limiting for template switching. PV RdRp also utilized synthetic, preformed intermediates, including those with UMP 3-overhangs. Reactions showed up to five consecutive template-switching events, consistent with a repair function for this form of recombination. PV RdRp may exclude UMP during forced-copy-choice RNA recombination to preclude creation of nonsense mutations during RNA fragment assembly. Several other picornaviral RdRps were evaluated, and all were capable of RNA fragment assembly to some extent. Lastly, we propose a structure-based hypothesis for the PV RdRp-plus-one intermediate complex based on an elongating PV RdRp structure.

biochemistry↗