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Xie, J.

Publications and source records attributed to Xie, J..

At least 181 records · Page 10Linked to original sources

Prioritizing prognostic-associated subpopulations and individualized recurrence risk signatures from single-cell transcriptomes of colorectal cancer

Colorectal cancer (CRC) is one of the most common gastrointestinal malignancies. There are few recurrence risk signatures for CRC patients. Single-cell RNA-sequencing (scRNA-seq) provides a high resolution platform for prognostic signature detection. However, scRNA-seq is not practical in large cohorts due to its high cost and most single-cell experiments lack clinical phenotype information. Few studies have been reported to use external bulk transcriptome with survival time to guide the detection of key cell subtypes in scRNA-seq data. We proposed a data analysis framework to prioritize prognostic-associated subpopulations based on relative expression orderings (REOs). Cell type specific gene pairs (C-GPs) were identified to evaluate prognostic value for each cell type. We found REOs-based signatures could accurately classify most cell subtypes. C-GPs achieves higher precision compared with four current methods. Moreover, we developed single-cell gene pair signatures to predict recurrence risk for patients individually. Fibro_SGK1 cells and IgA+ IGLC2+ B cells were novel prognostic-associated subpopulations. A user-friendly toolkit, scRankXMBD (https://github.com/xmuyulab/scRank-XMBD), was developed to enable implementation of this framework. Our work facilitate the application of the rank-based method in scRNA-seq data for prognostic biomarker discovery and precision oncology.

bioinformatics↗

Potential limitations of micro-dystrophin gene therapy for Duchenne muscular dystrophy

Adeno-associated viruses (AAVs) expressing versions of truncated dystrophin (micro-dystrophins) are being delivered at high doses to patients with Duchenne muscular dystrophy (DMD) in clinical trials. We examined this strategy with two different micro-dystrophins, similar to those currently in clinical trials, in a severe mouse model of DMD, the D2.mdx mouse, using doses of AAV comparable to those used in the clinical trials. We achieved high levels of micro-dystrophin expression in striated muscle with cardiac expression [~]10 fold higher than that observed in skeletal muscle. Significant, albeit incomplete, correction of the skeletal muscle disease is observed. Surprisingly, a lethal acceleration of cardiac disease progression occurs with one of the micro-dystrophins, while the second appears to benefit the heart. The detrimental impact on the heart in the first case appears to be caused by the high levels of micro-dystrophin in the heart resulting in competition between micro-dystrophin and utrophin at the cardiomyocyte membrane. While the significance of these observations for patients currently being treated with AAV-micro-dystrophin therapies is unclear since the levels of expression being achieved in the DMD hearts are unknown, it suggests that micro-dystrophin treatments may need to be carefully titrated to avoid high levels of expression in the heart.

pharmacology and toxicology↗

Acute stress impairs target enhancement but not disrtractor suppression in attention selection: Evidence from the N2pc and Pd

BackgroundStudies have shown that acute stress significantly impacts the selection of emotional stimuli. However, the extent to which acute stress affects the cognitive mechanisms underlying target enhancement and distractor suppression when selecting emotionally neutral stimuli remains unclear. MethodsWe explored this issue using the Maastricht Acute Stress Test (MAST), a visual search task, and event-related potential recordings. Eighty healthy adults participanted in the experiment, which required them to search for a specific target while ignoring a color singleton distractor. ResultsThe MAST successfully induced a stress response in the stress group, as indicated by the higher levels of salivary cortisol, state anxiety, negative emotion, as well as lower levels of positive emotion. Importantly, the stress group showed a significantly smaller N2pc in the lateral target with middle distractor displays than the control group. However, no significant differences in PD were observed in the middle target with lateral distractor displays. ConclusionsThese results suggest that acute stress impairs target enhancement rather than distractor suppression during the selection of attention. This impairment may be due to impaired prefrontal cortex function under acute stress. The present research provides new insight into how acute stress affects attention selection. Trial registrationThis study has been submitted for registration with the Chinese Clinical Trial Registry (ChiCTR) and is currently under review (PID: 274121). The status will be updated as soon as the review process is completed.

neuroscience↗

Positive effects of tree diversity on tropical forest restoration in a field-scale experiment

Experiments under controlled conditions have established that ecosystem functioning is generally positively related to levels of biodiversity, but it is unclear how widespread these effects are in real-world settings and whether they can be harnessed for ecosystem restoration. We used a long-term, field-scale tropical restoration experiment to test how the diversity of planted trees affected recovery measured across a 500 ha area of selectively logged forest using multiple sources of satellite data. Replanting with species rich mixtures of tree seedlings that had higher phylogenetic and functional diversity accelerated restoration rates. Our results are consistent with a positive relationship between biodiversity and ecosystem functioning in the lowland dipterocarp rainforests of SE Asia and demonstrate that using diverse mixtures of species can enhance initial recovery after logging.

ecology↗

Coevolution-based prediction of key allosteric residues for protein function regulation

Allostery is fundamental to many biological processes. Due to the distant regulation nature, how allosteric mutations, modifications and effector binding impact protein function is difficult to forecast. In protein engineering, remote mutations cannot be rationally designed without large scale experimental screen. Allosteric drugs have raised much attention due to their high specificity and possibility of overcoming existing drug-resistant mutations. However, optimization of allosteric compounds remains challenging. Here, we developed a novel computational method KeyAlloSite to predict allosteric site and to identify key allosteric residues (allo-residues) based on the evolutionary coupling model. We found that protein allosteric sites are strongly coupled to orthosteric site compared to non-functional sites. We further inferred key allo-residues by pairwise comparing the difference of evolutionary coupling scores of each residue in the allosteric pocket with the functional site. Our predicted key allo-residues are in accordance with previous experimental studies for typical allosteric proteins like BCR-ABL1, Tar and PDZ3, as well as key cancer mutations. We also showed that KeyAlloSite can be used to predict key allosteric residues distant from the catalytic site that are important for enzyme catalysis. Our study demonstrates that weak coevolutionary couplings contain important information of protein allosteric regulation function. KeyAlloSite can be applied in studying the evolution of protein allosteric regulation, designing and optimizing allosteric drugs, performing functional protein design and enzyme engineering.

biochemistry↗

Decoding the Mouse Spinal Cord Locomotor Neural Network Using Tissue Clearing, Tissue Expansion and Tiling Light Sheet Microscopy Techniques

Decoding a biological neural network requires the structural information regarding the spatial organization, dendritic morphology, axonal projection and synaptic connection of the neurons in the network. Imaging physically sectioned nervous tissues using electron microscopy (EM) has been the only method to acquire such information. However, EM is inefficient for imaging and reconstructing large neural networks due to the low throughput and inability to target neural circuits of interest by labeling specific neuron populations genetically. Here, we present a method to image large nervous tissues from the cellular to synaptic level with high throughput using tiling light sheet microscopy combined with tissue clearing and tissue expansion techniques. We describe the method, demonstrate its capability and explore its utility for decoding large biological neural networks by studying the spinal cord locomotor neural network in genetically labeled fluorescent mice. We show our method could advance the decoding of large neural networks significantly.

neuroscience↗

The discovery of genome-wide mutational dependence in naturally evolving populations

BackgroundEvolutionary pressures on bacterial pathogens can result in phenotypic change including increased virulence, drug resistance, and transmissibility. Understanding the evolution of these phenotypes in nature and the multiple genetic changes needed has historically been difficult due to sparse and contemporaneous sampling. A complete picture of the evolutionary routes frequently travelled by pathogens would allow us to better understand bacterial biology and potentially forecast pathogen population shifts. MethodsIn this work, we develop a phylogeny-based method to assess evolutionary dependency between mutations. We apply our method to a dataset of 31,428 Mycobacterium tuberculosis complex (MTBC) genomes, a globally prevalent bacterial pathogen with increasing levels of antibiotic resistance. ResultsWe find evolutionary dependency within simultaneously- and sequentially-acquired variation, and identify that genes with dependent sites are enriched in antibiotic resistance and antigenic function. We discover 20 mutations that potentiate the development of antibiotic resistance and 1,003 dependencies that evolve as a consequence antibiotic resistance. Varying by antibiotic, between 9% and 80% of resistant strains harbor a dependent mutation acquired after a resistance-conferring variant. We demonstrate that mutational dependence can not only improve prediction of phenotype (e.g. antibiotic resistance), but can also detect sequential environmental pressures on the pathogen (e.g. the pressures imposed by sequential antibiotic exposure during the course of standard multi-antibiotic treatment). Taken together, our results demonstrate the feasibility and utility of detecting dependent events in the evolution of natural populations. Data and code available at: https://github.com/farhat-lab/DependentMutations

genomics↗

Specific Pupylation as IDEntity Reporter (SPIDER) for the identification of Protein-Biomolecule interactions

Protein-biomolecule interactions play pivotal roles in almost all biological processes, the identification of the interacting protein is essential. By combining a substrate-based proximity labelling activity from the pupylation pathway of Mycobacterium tuberculosis, and the streptavidin (SA)-biotin system, we developed Specific Pupylation as IDEntity Reporter (SPIDER) for identifying protein-biomolecular interactions. As a proof of principle, SPIDER was successfully applied for global identification of interacting proteins, including substrates for enzyme (CobB), the readers of m6A, the protein interactome of mRNA, and the target proteins of drug (lenalidomide). In addition, by SPIDER, we identified SARS-CoV-2 Omicron variant specific receptors on cell membrane and performed in-depth analysis for one candidate, Protein-g. These potential receptors could explain the differences between the Omicron variant and the Prototype strain, and further serve as target for combating the Omicron variant. Overall, we provide a robust technology which is applicable for a wide-range of protein-biomolecular interaction studies.

systems biology↗

Mutant huntingtin exon-1 impaired GTPCH and DHFR expression in plants and mice

Pathophysiology associated with Huntingtons disease (HD) has been studied extensively in various cell and animal models since the 1993 discovery of the mutant huntingtin (mHtt) with abnormally expanded polyglutamine (polyQ) tracts as the causative factor. However, the sequence of early pathophysiological events leading to HD still remains elusive. To gain new insights into the polyQ-induced early pathogenic events, we expressed Htt exon1 (Httex1) with a normal (21), or an extended (42 or 63) number of polyQ in tobacco plants, which lack an Htt ortholog to avoid any associated effects from endogenous Htt. Here, we show that transgenic plants accumulated Httex1 proteins with corresponding polyQ tracts, and that mHttex1 induced protein aggregation and affected plant growth, especially root and root hair development, in a polyQ length-dependent manner. Quantitative proteomic analysis of young roots from severely affected Httex1Q63 and unaffected Httex1Q21 plants showed that the most impaired protein by polyQ63 is a GTP cyclohydrolase I (GTPCH) along with many its related one-carbon (C1) metabolic pathway enzymes. GTPCH is a key enzyme involved in folate biosynthesis in plants and tetrahydrobiopterin (BH4) biosynthesis in mammals. Validating studies in 4-week-old R6/2 HD mice expressing a mHttex1 showed reduced levels of GTPCH and dihydrofolate reductase (DHFR, a key folate utilization/alternate BH4 biosynthesis enzyme), and impaired C1 and BH4 metabolisms. Our findings from mHttex1 plants and mice reveal impaired expressions of GTPCH and DHFR and contribute to a better understanding of mHtt-altered C1 metabolism and C1 interconnected BH4 metabolism leading to the pathogenesis of HD.

molecular biology↗

LRT: T Cell Trajectory Inference by Integrative Analysis of Single Cell TCR-seq and RNA-seq data

Single-cell RNA sequencing (scRNA-seq) data has been widely used for cell trajectory inference, with the assumption that cells with similar expression profiles share the same differentiation state. However, the inferred trajectory may not reflect true clonal relationships among cells. Single-cell T cell receptor sequencing (scTCR-seq) data provides invaluable insights into the clonal relationship among cells, yet it lacks functional characteristics. Therefore, scRNA-seq and scTCR-seq data complement each other in improving trajectory inference, where a reliable computational tool is still missing. We developed LRT, a computational framework for the integrative analysis of scTCR-seq and scRNA-seq data for T cell trajectory inference. Specifically, LRT utilizes the TCR sequence information to identify clonally related cells and then uses the transcriptomics information from scRNA-seq data to construct clonotype-level cell trajectories. LRT provides a comprehensive analysis workflow, including preprocessing, cell trajectory clustering, pseudotime inference, and marker gene identification. We illustrated its utility using scRNA-seq and scTCR-seq data of CD4+ T cells with acute lymphocytic choriomeningitis virus infection, where we could identify cell trajectories that cannot be revealed solely based on scRNA-seq data. Our downstream analyses showed that (i) these trajectories are involved in distinct functional roles; (ii) the expression patterns of their marker genes over the estimated pseudotime nicely coincide with the Th1/Tfh biology that is well established for the CD4+ T cell differentiation; and (iii) the higher level of TCR sequence similarities was observed within each cluster, compared to between clusters. The LRT framework was implemented as an R package LRT, and it is now publicly accessible at https://github.com/JuanXie19/LRT. In addition, it provides two Shiny apps shinyClone and shinyClust that allow users to interactively explore distributions of clonotypes, conduct repertoire analysis, implement clustering of cell trajectories, and predict cell trajectory cluster marker genes. Author SummaryUnderstanding the dynamic changes behind biological processes is important for determining molecular mechanisms underlying normal tissue formulation, developmental disorders and pathologies. Usually, a biological process can be characterized by identifying a trajectory, a path that goes through the various cellular states associated with the process. Since cells in different states may express different sets of genes, researchers often infer cell trajectory via capturing transcriptomics changes. Dozens of methods have been developed for cell trajectory inference, and scRNA-seq data is predominantly utilized. However, methods based only on scRNA-seq data cannot tell us if cells from the same trajectory come from the same clone or not. T cells play a key role in the immune system, and their high antigen recognition specificity is largely determined by their TCR sequences. Thanks to the advent of scTCR-seq technology, people can identify the group of cells coming from the same clone. This paper describes our novel computational framework, namely LRT, and demonstrates that by complementing scRNA-seq data with the clonal information from scTCR-seq data using LRT, we are able to identify cell trajectories that cannot be revealed solely based on scRNA-seq data.

bioinformatics↗

Paradoxical activation of SREBP1c and de novo lipogenesis by hepatocyte-selective ACLY depletion in obese mice.

Hepatic steatosis associated with high fat diets, obesity and type 2 diabetes is thought to be the major driver of severe liver inflammation, fibrosis, and cirrhosis. Cytosolic acetyl-coenzyme A (AcCoA), a central metabolite and substrate for de novo lipogenesis (DNL), is produced from citrate by ATP-citrate lyase (ACLY) and from acetate through AcCoA synthase short chain family member 2 (ACSS2). However, the relative contributions of these two enzymes to hepatic AcCoA pools and DNL rates in response to high fat feeding is unknown. We report here that hepatocyte-selective depletion of either ACSS2 or ACLY caused similar 50% decreases in liver AcCoA levels in obese mice, showing that both pathways contribute to generation of this DNL substrate. Unexpectedly however, the hepatocyte ACLY depletion in obese mice paradoxically increased total DNL flux measured by D2O incorporation into palmitate, while in contrast ACSS2 depletion had no effect. The increase in liver DNL upon ACLY depletion was associated with increased expression of nuclear sterol regulatory element-binding protein 1c (SREBP1c) and of its target DNL enzymes. This upregulated DNL enzyme expression explains the increased rate of palmitate synthesis in ACLY depleted livers. Furthermore, this increased flux through DNL may also contribute to the observed depletion of AcCoA levels due to its increased conversion to Malonyl CoA (MalCoA) and palmitate. Together, these data indicate that in HFD fed obese mice, hepatic DNL is not limited by its immediate substrates AcCoA or MalCoA, but rather by activities of DNL enzymes.

molecular biology↗

Astrocyte-targeted gene delivery of interleukin 2 specifically increases brain-resident regulatory T cell numbers and protects against pathological neuroinflammation

The ability of immune-modulating biologics to prevent and reverse pathology has transformed recent clinical practice. Full utility in the neuroinflammation space, however, requires identification of both effective targets for local immune-modulation and a delivery system capable of crossing the blood-brain-barrier. The recent identification and characterization of a small population of regulatory T cells (Tregs) resident in the brain presents one such potential therapeutic target. Here we identified brain IL2 levels as a limiting factor for brain-resident Tregs. We developed a gene-delivery approach for astrocytes, with a small-molecule on-switch to allow temporal control, and enhanced production in reactive astrocytes to spatially-direct delivery to inflammatory sites. Mice with brain-specific IL2 delivery were protected from traumatic brain injury, stroke and multiple sclerosis models, without impacting the peripheral immune system. These results validate brain-specific IL2 gene-delivery as effective protection against neuroinflammation, and provide a versatile platform for delivery of diverse biologics to neuroinflammatory patients.

immunology↗

Architecture of the yeast Pol III pre-termination complex and pausing mechanism on poly-dT termination signals

RNA polymerase (Pol) III is specialized to transcribe short, abundant RNAs, for which it terminates transcription on poly-thymine (dT) stretches on the non-template (NT) strand. When Pol III reaches the termination signal, it pauses and forms the pre-termination complex (PTC). Here, we report cryo-EM structures of the yeast Pol III PTC and complementary functional states at 2.7-3.9 [A] resolution. Pol III recognizes the poly-dT termination signal with subunit C128 that forms a hydrogen-bond network with the NT-strand and, thereby, induces pausing. Mutating key interacting residues interferes with transcription termination in vitro, impairs yeast growth, and causes global termination defects in vivo confirming our structural results. Additional cryo-EM analysis reveals that C53-C37, a Pol III subcomplex and key termination factor, participates indirectly in Pol III termination. We propose a mechanistic model of Pol III transcription termination and rationalize why Pol III, unlike Pol I and Pol II, terminates on poly-dT signals.

biochemistry↗

Keystone species determine the productivity of synthetic microbial biofilm communities

Microbes typically reside in multi-species communities, whose interactions have considerable impacts on the robustness and functionality of such communities. To manage microbial communities, it is essential to understand the factors driving their assemblage and maintenance. Even though the community composition could be easily assessed, interspecies interactions during community establishment remain poorly understood. Here, we combined co-occurrence network analysis with quantitative PCR to examine the importance of each species within synthetic communities (SynComs) of pellicle biofilms. Genome-scale metabolic models and in vitro experiments indicated that the biomass of SynComs was primarily affected by keystone species that are acting either as metabolic facilitators or as competitors. Our study sets an example of how to construct a model SynCom and investigate interspecies interactions.

microbiology↗

Overexpression of miR5505 enhanced drought and salt resistance in rice (Orayza sativa)

Rice is one of the most important crops in the world and half of the world population consumes it as their staple food. The abiotic stresses caused by drought, salt and other stresses have severely impacted rice production. MicroRNAs (miRNAs) are a type of small non-coding RNAs which widely reported as gene regulators, suppressing genes expression by degradation mRNA or translation inhibition. Previously, high-throughput sequencing has found a conserved miRNA miR5505 responding to drought stress in Dongxiang wild rice (DXWR). Several other studies also revealed that miR5505 was involved in rice stress responses. We further studied the effect of miRNA in drought and salt tolerance by overexpression it in rice. 2 in 18 successfully transformed transgenic lines with higher miR5505 expression were selected and then drought and salt resistance ability were evaluated. Both transgenic lines showed stronger drought and salt tolerance than wild-type (WT). Putative targets of miR5505 were identified by psRNATarget and several of them were found stress-related. RNA-seq found 1,980 differentially expressed genes (DEGs) in transgenic lines. Among them, 978 genes were down-regulated. Three genes were predicted by psRNATarget and two of them might be stress-related. We also found various environmental stress cis-acting elements in upstream of miR5505 promoter through Software PlantCARE. In all, we improved rice drought and salt tolerance by overexpressing miR5505, and the generated putative targets and cis-acting elements also suggested miR5505 might play important roles in the regulation of drought and salt responses.

molecular biology↗

Clustering Deviation Index (CDI): A robust and accurate unsupervised measure for evaluating scRNA-seq data clustering

Single-cell RNA-sequencing (scRNA-seq) technology allows us to explore cellular heterogeneity in the transcriptome. Because most scRNA-seq data analyses begin with cell clustering, its accuracy considerably impacts the validity of downstream analyses. Although many clustering methods have been developed, few tools are available to evaluate the clustering "goodness-of-fit" to the scRNA-seq data. In this paper, we propose a new Clustering Deviation Index (CDI) that measures the deviation of any clustering label set from the observed single-cell data. We conduct in silico and experimental scRNA-seq studies to show that CDI can select the optimal clustering label set. Particularly, CDI also informs the optimal tuning parameters for any given clustering method and the correct number of cluster components.

bioinformatics↗

Identification, analysis, and confirmation of seed storability-related loci in Dongxiang wild rice (Oryza rufipogon Griff.)

Dongxiang wild rice (Oryza rufipogon Griff.) (DXWR) has strong seed storability and identifying its elite gene resources may facilitate genetic improvements in rice seed storability. In this study, we developed two backcross inbred lines (BILs) populations, with DXWR as a common donor parent and two rice varieties (F6 and R974) as recipient parents. Bulked segregant analysis via whole genome sequencing (BSA-seq) was used to identify seed storability-related loci in the DXWR and F6 population. Two main genomic regions containing 18,550,000-20,870,000 bp on chromosome 4 and 7,860,000-9,780,000 bp on chromosome 9 were identified as candidate loci of DXWR seed storability; these overlapped partially with seed storability-related quantitative trait loci (QTLs) discovered in previous studies, suggesting that these loci may provide important regions for isolating the responsible genes. In total, 448 annotated genes were predicted within the identified regions, of which 274 and 82 had nonsynonymous and frameshift mutations, respectively. We detected extensive metabolic activities and cellular processes during seed storability and confirmed the effects of the seed storability-related candidate loci using four BILs from DXWR and R974. These results may facilitate the cloning of DXWR seed storability-related genes, thereby elucidating rice seed storability and its improvement potential.

genomics↗

The manipulation of spinal motor neuron axonal growth promotes spinal cord repair

The loss of motor function in patients with spinal cord injury (SCI) is primarily due to the severing of the corticospinal tract (CST). Spinal motor neurons are located in the anterior horn of the spinal cord, and as the lower neurons of the CST, they control voluntary movement. Furthermore, its intrinsic axonal growth ability is significantly stronger than that of cerebral cortex pyramid neurons, which are the upper CST neurons. Therefore, we established an axonal regeneration model of spinal motor neurons to investigate the feasibility of repairing SCI by promoting axonal regeneration of spinal motor neurons. We demonstrated that conditionally knocking out pten in mature spinal motor neurons drastically enhanced axonal regeneration in vivo, and the regenerating axons of the spinal motor neurons re-established synapses with other cells in the damaged spinal cord. Thus, this strategy may serve as a novel and effective treatment method for SCI.

neuroscience↗