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Ding, J.

Publications and source records attributed to Ding, J..

At least 73 records · Page 4Linked to original sources

Toward a privacy-preserving predictive foundation model of single-cell transcriptomics with federated learning and tabular modeling

The ability to pre-train on vast amounts of data to build foundation models (FMs) has achieved remarkable success in numerous domains, including natural language processing, computer vision, and, more recently, single-cell genomics--epitomized by GeneFormer, scGPT, and scFoundation. However, as single-cell FMs begin to train on increasingly large corpora, significant privacy and ethical concerns arise. Moreover, unlike text data, single-cell data is unordered and exhibits a unique tabular structure that most existing single-cell FMs overlook. In this study, we propose Tabula, a privacy-preserving and tabular-structure aware FM designed with federated learning (FL) and tabular modeling. Tabula combines the advantages of FMs and FL, enabling collaborative model training across multiple clients without compromising data privacy. In contrast to earlier single-cell FMs--which treat single-cell data like natural language (viewing cells as "words" defined by genes)--Tabula introduces a novel pretraining strategy that explicitly models the tabular structure of single-cell data. Extensive experimental results show that Tabula outperforms state-of-the-art methods in various downstream tasks (including cell type annotation, gene imputation, gene perturbation, multi-batch integration, and multi-omics integration) while requiring only half the data for pretraining and preserving data privacy. Furthermore, Tabula accurately reveals pairwise and even combinatorial regulatory logic across diverse biological systems, including hematopoiesis, pancreatic endogenesis, neurogenesis, and cardiogenesis. Thus, Tabula provides a new foundation model that explicitly incorporates the tabular nature of single-cell data alongside FL, paving the way for creating a "virtual cell" for human health under critical privacy preservation.

bioinformatics↗

Single-cell multiomics data integration and generation with scPairing

Single-cell multiomics technologies generate paired measurements of different cellular modalities, such as gene expression and chromatin accessibility. However, multiomics technologies are more expensive than their unimodal counterparts, resulting in smaller and fewer available multiomics datasets. Here, we present scPairing, a deep learning model inspired by Contrastive Language-Image Pre-Training, which embeds different modalities from the same single cells onto a common embedding space. We leverage the common embedding space to generate novel multiomics data following bridge integration, a method that uses an existing multiomics bridge to link unimodal data. Through extensive benchmarking, we show that scPairing constructs an embedding space that fully captures both coarse and fine biological structures. We then use scPairing to generate new multiomics data from retina, immune, and renal cells. Furthermore, we extend scPairing to generate trimodal data. Researchers can use these generated multiomics datasets to discover new biological relationships across modalities or confirm existing hypotheses.

bioinformatics↗

DTPSP: A Deep Learning Framework for Optimized Time Point Selection in Time-Series Single-Cell Studies

Time-series studies are critical for uncovering dynamic biological processes, but achieving comprehensive profiling and resolution across multiple time points and modalities (multi-omics) remains challenging due to cost and scalability constraints. Current methods for studying temporal dynamics, whether at the bulk or single-cell level, often require extensive sampling, making it impractical to deeply profile all time points and modalities. To overcome these limitations, we present DTPSP, a deep learning framework designed to identify the most informative time points in any time-series study, enabling resource-efficient and targeted analyses. DTPSP models temporal gene expression patterns using readily obtainable data, such as bulk RNA-seq, to select time points that capture key system dynamics. It also integrates a deep generative module to infer data for non-sampled time points based on the selected time points, reconstructing the full temporal trajectory. This dual capability enables DTPSP to prioritize key time points for in-depth profiling, such as single-cell sequencing or multi-omics analyses, while filling gaps in the temporal landscape with high fidelity. We apply DTPSP to developmental and disease-associated time courses, demonstrating its ability to optimize experimental designs across bulk and single-cell studies. By reducing costs, enabling strategic multi-omics profiling, and enhancing biological insights, DTPSP provides a scalable and generalized solution for investigating dynamic systems.

bioinformatics↗

Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation

Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants; however, its application in large-scale genomic studies has been limited by challenges in sample preparation and high costs. Here, we leverage a new scalable wet-lab protocol and computational pipeline for whole-genome Oxford Nanopore Technologies sequencing and apply it to neurologically normal control samples from the North American Brain Expression Consortium (NABEC) (European ancestry) and Human Brain Collection Core (HBCC) (African or African admixed ancestry) cohorts. Through this work, we present a publicly available long-read resource from 351 human brain samples (median N50: 27 Kbp and at an average depth of ~40x genome coverage). We discover approximately 234,905 SVs and produce locally phased assemblies that cover 95% of all protein-coding genes in GRCh38. To resolve cis-regulatory effects, we develop ASM-LR, a method for allele-specific methylation analysis from long-read data, revealing both strong and subtle regulatory effects, including numerous novel methylation QTLs masked in unphased models. Our results highlight the power of haplotype-resolved methylation to uncover regulatory mechanisms and establish a foundational resource for exploring how genetic variation shapes gene expression and epigenetic architecture across diverse ancestries.

genomics↗

DKC1-mediated pseudouridylation of rRNA targets hnRNP A1 to sustain IRES-dependent translation and ATF4-driven metabolic adaptation

The pseudouridine synthase DKC1 regulates internal ribosome entry site (IRES)-dependent translation and is upregulated in cancers by the MYC family of oncogenic transcription factors. We investigated the functional significance of DKC1 in MYCN-amplified neuroblastoma and its underlying mechanisms. A key function of DKC1 is to promote an ATF4-mediated gene expression program for amino acid metabolism and stress adaptation. We identified hnRNP A1, an IRES trans-acting factor, as a critical downstream mediator of DKC1 in sustaining ATF4 expression and IRES-dependent translation. We found that DKC1-mediated pseudouridylation at two specific 28S rRNA sites is essential for maintaining hnRNP A1 protein expression. Moreover, hnRNP A1 interacts with and stabilizes ATF4 mRNA, significantly increasing the protein expression of the ATF4 V1 variant, which contains an IRES element in its mRNA. Additionally, we found that cellular stress induces hnRNP A1, which is required for ATF4 induction under such conditions. Collectively, our study reveals a MYC-activated DKC1-hnRNP A1 axis that drives ATF4-mediated metabolic adaptation, supporting cancer cell survival under metabolic stress during cancer development.

cancer biology↗

Characterization of DNA methylation in PBMCs and donor-matched iPSCs shows methylation is reset during stem cell reprogramming

O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=138 SRC="FIGDIR/small/627515v2_ufig1.gif" ALT="Figure 1"> View larger version (21K): org.highwire.dtl.DTLVardef@18cda69org.highwire.dtl.DTLVardef@574c4corg.highwire.dtl.DTLVardef@1522644org.highwire.dtl.DTLVardef@4e799c_HPS_FORMAT_FIGEXP M_FIG O_FLOATNOGraphical AbstractC_FLOATNO C_FIG HighlightsO_LIGeneration of a population-level set of iPSC lines from healthy individuals across the lifespan C_LIO_LIAging-related features were reset based on epigenetic markers of cytosine methylation and telomere length C_LIO_LIBy comparing methQTLs in iPSC vs. their donor PBMCs, we find that detection of methQTLs reflect biological functions of different cell types C_LI DNA methylation is an important epigenetic mechanism that helps define and maintain cellular functions. It is influenced by many factors, including environmental exposures, genotype, cell type, sex, and aging. Since age is the primary risk factor for developing neurodegenerative diseases, it is important to determine if aging-related DNA methylation is retained when cells are reprogrammed to an induced Pluripotent Stem Cell (iPSC) state. Here, we selected peripheral blood mononuclear cells (PBMCs; n = 99) from a cohort of diverse and healthy individuals enrolled in the Genetic and Epigenetic Signatures of Translational Aging Laboratory Testing (GESTALT) study to convert to iPSCs. After reprogramming we evaluated the resulting iPSCs for DNA methylation signatures to determine if they reflect the confounding factors of age and environmental factors. We used genome-wide DNA methylation arrays in both cell types to show that the epigenetic clock is largely reset to an early methylation age after conversion of PBMCs to iPSCs. We further examined the epigenetic age of each cell type using an Epigenome-wide Association Study (EWAS). Finally, we identified a set of methylation Quantitative Trait Loci (methQTL) in each cell type. Our results show that age-related DNA methylation is largely reset in iPSCs, and each cell type has a unique set of methylation sites that are genetically influenced.

molecular biology↗

An AI-Cyborg System for Adaptive Intelligent Modulation of Organoid Maturation

Recent advancements in flexible bioelectronics have enabled continuous, long-term stable interrogation and intervention of biological systems. However, effectively utilizing the interrogated data to modulate biological systems to achieve specific biomedical and biological goals remains a challenge. In this study, we introduce an AI-driven bioelectronics system that integrates tissue-like, flexible bioelectronics with cyber learning algorithms to create a long-term, real-time bidirectional bioelectronic interface with optimized adaptive intelligent modulation (BIO-AIM). When integrated with biological systems as an AI-cyborg system, BIO-AIM continuously adapts and optimizes stimulation parameters based on stable cell state mapping, allowing for real-time, closed-loop feedback through tissue-embedded flexible electrode arrays. Applied to human pluripotent stem cell-derived cardiac organoids, BIO-AIM identifies optimized stimulation conditions that accelerate functional maturation. The effectiveness of this approach is validated through enhanced extracellular spike waveforms, increased conduction velocity, and improved sarcomere organization, outperforming both fixed and no stimulation conditions.

bioengineering↗

CellSexID: Sex-Based Computational Tracking of Cellular Origins in Chimeric Models

Cell tracking in chimeric models is essential yet challenging, particularly in developmental biology, regenerative medicine, and transplantation research. Existing methods such as fluorescent labeling and genetic barcoding are technically demanding, costly, and often impractical for dynamic or heterogeneous tissues. Here, we introduce CellSexID, a computational framework that leverages sex as a surrogate marker for cell origin inference. Using a machine learning model trained on single-cell transcriptomic data, CellSexID accurately predicts the sex of individual cells, enabling in silico distinction between donor and recipient cells in sex-mismatched settings. The model identifies minimal sex-linked gene sets through ensemble feature selection and has been validated using both public datasets and experimental flow sorting, confirming the biological relevance of predicted populations. We further demonstrate CellSexIDs applicability beyond chimeric models, including organ transplantation and multiplexed sample demultiplexing. As a scalable and cost-effective alternative to physical labeling, CellSexID facilitates precise cell tracking and supports diverse biomedical applications involving mixed cellular origins.

bioinformatics↗

Structural insights into cholesterol sensing by the LYCHOS-mTORC1 pathway

The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cellular metabolism and growth by coordinating nutrient resources, including cholesterol, and its aberrant activation is linked to various age-related diseases. LYCHOS is a cholesterol sensor on the lysosome and bound to the GATOR1 complex, a GTPase-activating protein for the Rag GTPase, at high cholesterol concentrations, thereby activating the protein kinase mTORC1. However, how LYCHOS senses cholesterol and transduces signal to GATOR1 remain largely unknown. Here we report six cryo-electron microscopy structures of human LYCHOS, depicting five distinct states. These are categorized into a contracted state when complexed with a sufficient amount of the cholesterol analogue cholesteryl hemisuccinate (CHS), and an expanded state when CHS is deficient. The structure forms a homodimer, within each monomer the transmembrane region is divided into a permease-like domain (PLD) and a GPCR-like domain (GLD) with two clearly defined adjacent cholesterol binding sites between them. The PLD shares a conserved Na+/H+ antiporter (NhaA) fold, which much resembles plant auxin transporter PINs. Cholesterol locates between PLD and GLD and cholesterol binding induces a translation of GLD towards PLD and exposes the cytosolic extension of transmembrane 15, which mediates the interaction between LYCHOS and GATOR1. Strikingly, structure-guided mutations of Gly702 in GLD of LYCHOS increase its affinity for cholesterol, leading to sustained mTORC1 activation in cells. This indicates that LYCHOSs moderate affinity for cholesterol is crucial as a cholesterol sensor. Our results not only showed a solute carrier mechanistically coordinates a GPCR domain, elucidating the structural mechanism of cholesterol sensing by the mTORC1 pathway on the lysosome; but also provides a structural basis for developing inhibitors that selectively target to mTORC1 pathway to treat age-related diseases by blocking LYCHOS in its expanded state.

biochemistry↗

Structural insights into SSNA1 self-assembly and its microtubule binding for centriole maintenance

SSNA-1 is a fibrillar protein localized at the area where dynamic microtubule remodeling occurs including centrosomes. Despite the important activities of SSNA1 to microtubules such as nucleation, co-polymerization, and lattice sharing microtubule branching, the underlying molecular mechanism have remained unclear due to a lack of structural information. Here, we determined the cryo-EM structure of C. elegans SSNA-1 at 4.55 [A] resolution and evaluated its role during embryonic development in C. elegans. We found that SSNA1 forms an anti-parallel coiled-coil, and its self-assembly is facilitated by the overhangs of 16 residues at its C-terminus, which dock on the adjacent coiled-coil to form a triple-stranded helical junction. Notably, the microtubule-binding region is within the triple-stranded junction, highlighting that self-assembly of SSNA-1 facilitates effective microtubule interaction by creating hubs along a fibril. Furthermore, our genetical analysis elucidated that deletion of SSNA-1 resulted in a significant reduction in embryonic viability and the formation of multipolar spindles during cell division. Interestingly, when the ability of SSNA-1 self-assembly was impaired, embryonic viability stayed low, comparable to that of the knockout strain. Our study provides molecular insights into the self-assembly mechanisms of SSNA-1, shedding light on its role in controlling microtubule binding and cell division through the regulation of centriole stability.

cell biology↗

Interspecies Organoids Reveal Human-Specific Molecular Features of Dopaminergic Neuron Development and Vulnerability

The disproportionate expansion of telencephalic structures during human evolution involved tradeoffs that imposed greater connectivity and metabolic demands on midbrain dopaminergic neurons. Despite the central role of dopaminergic neurons in human-enriched disorders, molecular specializations associated with human-specific features and vulnerabilities of the dopaminergic system remain unexplored. Here, we establish a phylogeny-in-a-dish approach to examine gene regulatory evolution by differentiating pools of human, chimpanzee, orangutan, and macaque pluripotent stem cells into ventral midbrain organoids capable of forming long-range projections, spontaneous activity, and dopamine release. We identify human-specific gene expression changes related to axonal transport of mitochondria and reactive oxygen species buffering and candidate cis- and trans-regulatory mechanisms underlying gene expression divergence. Our findings are consistent with a model of evolved neuroprotection in response to tradeoffs related to brain expansion and could contribute to the discovery of therapeutic targets and strategies for treating disorders involving the dopaminergic system.

evolutionary biology↗

Exploring phenotype-related single-cells through attention-enhanced representation learning

The scope of atlas-level single-cell investigations reveals the pathogenesis and progression of various diseases. Accurate interpretation of phenotype-related single-cell data necessitates the pre-definition of single-cell subtypes and the identification of their abundance variations for downstream analysis. In this context, biases from batch correlation and the selection of clustering resolutions can significantly impact single-cell data analysis and result interpretation. To strengthen the associations across single cells in each sample and their clinical phenotype, and to enhance single-cell exploration by integrating cell and gene-level information. This study proposes a method to learn phenotype-related sample representations from single cells via the attention-based multiple instance learning (AMIL) mechanism. This approach incorporates gene expression profiles from each single cell for sample-level clinical phenotype prediction. By integrating deep learning interpretation methods and phenotype-specific single-cell attention weights across sample groups, this method highlights critical gene programs and cell subtypes that mostly contribute to the sample-level clinical phenotype, and facilitate mechanistic exploration. Using single-cell atlases from COVID-19 infected patients and age-related healthy human blood, we demonstrate that this method can accurately predict disease severity and age-related phenotypes. Additionally, variations in cellular attention reflect the underlying biological mechanisms associated with these phenotypes. This method proposes a supervised framework for single-cell data interpretation and can be further adapted for other atlas-level clinical phenotype analyses.

bioinformatics↗

Novel symbionts reveal amoebae as significant hosts for environmental chlamydiae

Chlamydiae represent a diverse group of obligate intracellular bacteria with elusive hosts in environmental settings. This study used one of the largest collections of wild amoebae (Dictyostelium discoideum and D. giganteum, 106 clones) collected over the past two decades to screen for novel environmental chlamydiae. We found that novel environmental chlamydiae are prevalent in two wild Dictyostelium species and assembled 42 novel chlamydiae metagenome-assembled genomes (MAGs). The MAGs represent three chlamydiae species previously only reported using 16S sequencing. Their genomes are divergent enough from other species to warrant placing them in two new genera (tentatively called Ca. Dictychlamydia sp. LF1, Ca. Dictychlamydia sp. LF2, and Ca. Feichlamydia sp. LF3). In addition, these chlamydiae species show strong host specificity with two Dictyostelium amoeba hosts, except one amoeba sample. Ca. Dictychlamydia sp. LF1 and Ca. Feichlamydia sp. LF3 was exclusively observed in D. discoideum, while Ca. Dictychlamydia sp. LF2 was found only in D. giganteum. Phylogenetic and comparative genomic analyses suggest that all three chlamydiae are close to arthropod-associated chlamydiae and likely have some intermediate characteristics between previously reported amoeba-associated and vertebrate-associated chlamydiae. This study significantly broadens our understanding of the chlamydial host range and underscores the role of amoebae as vital hosts for environmental chlamydiae.

microbiology↗

Ultra-Fast Multi-Organ Proteomics Unveils Tissue-Specific Mechanisms of Drug Efficacy and Toxicity

Rapid and comprehensive analysis of complex proteomes across large sample sets is vital for unlocking the potential of systems biology. We present UFP-MS, an ultra-fast mass spectrometry (MS) proteomics method that integrates narrow-window data-independent acquisition (nDIA) with short-gradient micro-flow chromatography, enabling profiling of >240 samples per day. This optimized MS approach identifies 6,201 and 7,466 human proteins with 1- and 2-min gradients, respectively. Our streamlined sample preparation workflow features high-throughput homogenization, adaptive focused acoustics (AFA)-assisted proteolysis, and Evotip-accelerated desalting, allowing for the processing of up to 96 tissue samples in 5 h. As a practical application, we analyzed 507 samples from 13 mouse tissues treated with the enzyme-drug L-asparaginase (ASNase) or its glutaminase-free Q59L mutant, generating a quantitative profile of 11,472 proteins following drug treatment. The MS results confirmed the impact of ASNase on amino acid metabolism in solid tissues. Further analysis revealed broad suppression of anticoagulants and cholesterol metabolism and uncovered numerous tissue-specific dysregulated pathways. In summary, the UFP-MS method greatly accelerates the generation of biological insights and clinically actionable hypotheses into tissue-specific vulnerabilities targeted by ASNase.

systems biology↗

Identification and Diagnostic Potential of Pyroptosis-Related Genes in Endometriosis: A Novel Bioinformatics Analysis

ObjectiveThis study aimed to identify and analyze potential signatures of pyroptosis-related genes in EMs. MethodsTranscriptomic datasets related to endometriosis were retrieved from the GEO databases (GSE7305, GSE7307, and GSE11691). Differential gene expression analysis was performed to identify pyroptosis-related differentially expressed genes (PRDEGs) by intersecting DEGs with a curated list of PRGs. Various bioinformatics tools were employed to explore the biological functions and pathways associated with PRDEGs. ResultsWe identified 26 PRDEGs from combined datasets and constructed an EMs diagnostic model using LASSO regression based on pyroptosis scores. The model included 5 DEGs: KIF13B, BAG6, MYO5A, HEATR, and AK055981. Additionally, 21 Key Module Genes (KMGs) were identified, leading to the classification of 3 distinct EMs subtypes. These subtypes were analyzed for immune cell infiltration, revealing a complex immune landscape in EMs. ConclusionsThis study reveals pyroptosis crucial role in EMs and offers a novel diagnostic model based on pyroptosis-related genes. Modulating pyroptosis may provide a new therapeutic approach for managing EMs.

bioinformatics↗

Recovery of Verbal Working Memory Depends on Left Hemisphere White Matter Tracts

Researchers propose that the recovery of language function following stroke depends on the recruitment of perilesional regions in the left hemisphere and/or homologous regions in the right hemisphere (Kiran, 2012). Many investigations of recovery focus on changes in gray matter regions (e.g., Turkeltaub et al., 2011), whereas relatively few examine white matter tracts (e.g., Schlaug et al., 2009) and none address the role of these tracts in the recovery of verbal working memory (WM). The present study addressed these gaps, examining the role of left vs. right hemisphere tracts in the longitudinal recovery of phonological and semantic WM. For 24 individuals with left hemisphere stroke, we assessed WM performance within one week of stroke (acute timepoint) and at more than six months after stroke (chronic timepoint). To address whether recovery depends on the recruitment of left or right hemisphere tracts, we assessed whether changes in WM were related to the integrity of five white matter tracts in the left hemisphere which had been implicated previously in verbal WM and their right hemisphere analogues. Behavioral results showed significant improvement in semantic but not phonological WM from the acute to chronic timepoints. Improvements in semantic WM significantly correlated with tract integrity as measured by functional anisotropy in the left direct segment of the arcuate fasciculus, inferior fronto-occipital fasciculus and inferior longitudinal fasciculus. The results confirm the role of white matter tracts in language recovery and support the involvement of the left rather than right hemisphere in the recovery of semantic WM.

neuroscience↗

Improving positively tuned voltage indicators for brightness and kinetics

Existing positively tuned ASAP-family voltage indicators such as ASAP4e exhibit superior photostability compared to the negatively tuned ASAP3 and ASAP5, but signal-to-noise ratios for spike detection remained similar to ASAP3. To improve spike detection by positively tuned ASAP indicators, we performed multiple rounds of structure-guided saturation mutagenesis of an ASAP4e predecessor while screening directly for faster responses. One variant, ASAP6c, demonstrated [~]100% increases in fluorescence in response to single action potentials in both one-photon and two-photon imaging in vivo, achieving a 3-fold improvement in signal-to-noise ratios over ASAP4e.

neuroscience↗

Patch and matrix striatonigral neurons differentially regulate locomotion

Spiny projection neurons (SPNs) in the dorsal striatum play crucial roles in locomotion control and value-based decision-making. SPNs, which include both direct-pathway striatonigral and indirect-pathway striatopallidal neurons, can be further classified into subtypes based on distinct transcriptomic profiles and cell body distribution patterns. However, how these SPN subtypes regulate spontaneous locomotion in the context of environmental valence remains unclear. Using Sepw1-Cre transgenic mice, which label a specific SPN subtype characterized by a patchy distribution of cell bodies in the dorsal striatum, we found that these patchy striatonigral neurons constrain motor vigor in response to valence differentials. In a modified light/dark box test, mice exhibited differential walking speeds between the light and dark zones. Genetic ablation of these patchy SPNs disrupted restful slowing in the dark zone and increased zone discrimination by speed. In vivo recordings linked the activity of these neurons to zone occupancy, speed, and deceleration, with a specific role in mediating deceleration. Furthermore, chemogenetic activation of patchy SPNs--and optical activation of striatonigral neurons in particular--reduced locomotion and attenuated speed-based zone discrimination. These findings reveal that a subtype of patchy striatonigral neurons regulates implicit walking speed selection based on innate valence differentials.

neuroscience↗