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Yin, Z.

Publications and source records attributed to Yin, Z..

At least 37 records · Page 2Linked to original sources

Physics-Diffusion-Driven Multiscale Aggregation for Drug-Target Interaction Prediction

Drug-target interaction prediction is an important task in computational drug discovery. To address the limitations of existing graph neural network approaches in propagation depth and robustness, we propose PDDMA-DTI (Physics-Diffusion-Driven Multiscale Aggregation for Drug-Target Interaction Prediction), a physics-inspired, multiscale adaptive aggregation framework. PDDMA-DTI injects a physics-motivated diffusion operator into a heterogeneous drug-target network: global diffusion models cross-modal information propagation via the graph Laplacian, while local diffusion performs neighborhood smoothing in the low-dimensional embedding space. Both processes are solved with the implicit Euler scheme to ensure numerical stability. For each node, we introduce an adaptive stopping rule based on steady-state convergence and a weighted fusion strategy. This strategy leverages hop counts and node degrees to aggregate multi-step diffusion snapshots into a final representation that preserves original features while capturing multi-scale context. To emphasize strong interaction pathways, we further propose a Physical Interaction Summation Enhancement module that augments pairwise interaction features with a linear plus quadratic energy term, thereby amplifying highly correlated drug-target pairs. Extensive experiments on multiple benchmark datasets show that PDDMA-DTI consistently outperforms representative baselines in accuracy and robustness.

bioinformatics↗

Machine Vision Enabled Lateral Flow Immunoassay Using Functionalized Gold Nanoparticles for Point-of-Care Cardiac Biomarker Detection

Acute myocardial infarction (AMI) remains one of the most prevalent and fatal cardiovascular disease. Given the critical diagnostic significance of cardiac troponin I (cTnI) and myoglobin (Myo) in AMI, there is an urgent clinical demand for rapid and accurate detection methods to improve patient outcomes and reduce mortality. To meet this need, we developed a sensing platform that integrates functionalized gold nanoparticle-based lateral flow immunoassay (AuNPs-LFIA) with a machine vision model, enabling rapid quantitative detection of cTnI and Myo. By covalently conjugating antibodies to gold nanoparticles (AuNPs@Ab), we achieved greater probe specificity and stability. The integration of machine vision algorithms allowed quantitative readouts within 8 minutes, a 46.7% improvement of the detection time compared to conventional methods (15 minutes). The platform achieved limits of detection of 0.224 ng/mL for Myo and 0.071 ng/mL for cTnI, with excellent correlation to commercial kits (R2 > 0.99). Overall, these results demonstrate that machine vision-enhanced AuNPs-LFIA offers an efficient, sensitive and reliable strategy for point-of- care testing (POCT) in cardiovascular diagnostics, particularly in resource-limited settings.

bioengineering↗

An Integrated Decarbonising Approach to Mitigate Methane Emissions and Enhance Productivity in Rice Cultivation

Flooded rice paddies contribute approximately 12% of global anthropogenic methane emissions, accounting for 1.5% of the total warming effect from all greenhouse gases. With the rising global demand for rice due to population growth, the need for effective methane mitigation strategies in rice cultivation is increasingly critical. This study investigates the combined impact of irrigation methods, fertiliser combinations, and varietal differences on productivity, water use and methane emissions in rice. Field trials were conducted across five land parcels covering 8 Ha in the Sathyamangalam region of Tamil Nadu, India, from October 2024 to January 2025. Results revealed that drip irrigation significantly reduced seasonal methane emissions by up to 68% (128 kg/ha/season) compared to continuous flood irrigation (402.32 kg/ha/season) offering a sustainable solution to address climate change. Furthermore, our modified package of practices coupled with tailored fertiliser combination, led to a 28% reduction in methane emissions (222 kg/ha/season) relative to continuous flooding methods used by the farmers in the region (309 kg/ha/season). Methane emission differences of up to 23.8% were also evident across rice varieties ADT-45 (229.7 kg/ha/season and BPT-5204 (301.7 kg/ha/season) for. Although flood irrigation yielded a 5-6% higher grain productivity than drip irrigation, the TLL fertiliser package under flood irrigation still provided distinct benefits with a yield increase of 5.4%. Notably, water usage under drip irrigation was 42.5% lower on average across the five locations, with minimal impact on yield, resulting in a marked improvement in water use efficiency (0.62 kg.m-3 under drip vs. 0.39 kg.m-3 under flood irrigation). Our findings highlight the value of integrating modern irrigation techniques, optimizing fertiliser management, and appropriate varietal selection with higher environmental sustainability and improved farm productivity to mitigate climate impact in rice cultivation.

plant biology↗

Silencing Proline Dehydrogenases Improves Salt and Drought Tolerance in Gossypium hirsutum

Proline is a key compound that lowers cell water potential, scavenges reactive oxygen species, and stabilizes biomolecules and cell membranes, thus reducing stress-induced damage. Proline dehydrogenase (ProDH), the first rate-limiting enzyme in proline degradation, plays a crucial role in proline accumulation. We explored the role of the GhProDH gene family in regulating physiological responses to stress conditions through transcriptome, metabolome and functional analyses. Overexpression and gene silencing lines in Arabidopsis and cotton revealed that GhProDH2 plays a key role in regulating cottons tolerance to drought and salt stress. GhProDH2-4 improves cottons tolerance to drought and salt stress by engaging in carbon metabolism, glyoxylate cycle, and flavonoid metabolism pathways. These findings highlight the potential role of GhProDH2-4 to improve cotton stress resistance by genetically modifying pathways involved in proline biosynthesis and degradation.

molecular biology↗

Male-Biased Cyp17a2 Governs Antiviral Sexual Dimorphism in Fish via STING Stabilization and Viral Protein Degradation

Differences in immunity between males and females in living organisms are generally thought to be due to sex hormones and sex chromosomes, and it is often assumed that males have a weaker immune response. Here we report that in fish, males exhibit stronger antiviral immune responses, the male-biased gene cyp17a2 as a critical mediator of this enhanced response. First, we observed that male zebrafish exhibit enhanced antiviral resistance compared to females, and notably, zebrafish lack sex chromosomes. Through transcriptomic screening, we found that cyp17a2 was specifically highly expressed in male fish. Cyp17a2 knockout males were equivalent to wild-type males in terms of sex organs and androgen secretion, but the ability to upregulate IFN as well as antiviral resistance was greatly reduced. Then, Cyp17a2 is identified as a positive IFN regulator which located at endoplasmic reticulum, and specifically interacts with and enhances STING mediated antiviral responses. Mechanistically, Cyp17a2 stabiles STING expression by recruiting the E3 ubiquitin ligase bloodthirsty-related gene family member 32 (btr32), which facilitates K33-linked polyubiquitination. The capacity of IFN induction of Cyp17a2 was abolished when STING is knockdown. Meanwhile, Cyp17a2 also attenuates viral infection directly to strengthen the antiviral capacity as an antiviral protein, Cyp17a2 degrades the spring viremia of carp virus (SVCV) P protein by utilizing USP8 to reduce its K33-linked polyubiquitination. These findings reveal a sex-based regulatory mechanism in teleost antiviral immunity, broadening our understanding of sexual dimorphism in immune responses beyond the conventional roles of sex chromosomes and hormones.

immunology↗

Sensitive Transcriptomics and Genotyping reveals function of genetic variants in immunity

Advancements in genomics have revolutionized human genetics by defining the genetic architecture of disease. However, identifying causal variants and their mechanisms of action remains a challenge in translating genetics into therapeutic interventions. Here, we developed Sensitive Transcriptomics And Genotyping by sequencing (STAG-seq), a high-throughput platform designed to define mechanistic genotype-phenotype relationships through simultaneous single-cell measurements of genomic DNA and RNA transcripts. Combined with base-editing, STAG-seq enables functionalization of variants in relevant cellular contexts. We demonstrate the applicability of this approach in several settings. First, we screened genetic perturbations to identify monoallelic and biallelic variant effects in primary human macrophages treated with innate immune stimuli. Next, we phenotyped clinically relevant missense variants associated with immunodeficiency and autoimmunity. Finally, we defined a noncoding variant in a pleiotropic autoimmunity locus that governs TNRC18 expression in primary T cells. STAG-seq thus enables variant phenotyping at scale to advance functional genomics and disease biology.

genomics↗

Direct and abscopal anti-tumor responses elicited by peripheral nerve schwannoma irradiation synergize with anti-PD1 treatment in vestibular schwannoma models

NF2-related schwannomatosis (NF2-SWN) is a progressive and disabling disease requiring effective treatments. The hallmark of NF2-SWN is bilateral vestibular schwannomas (VSs), which progressively enlarge, leading to permanent sensorineural hearing loss and severely impacting patients quality of life. Currently, there are no FDA-approved drugs for VS or the associated hearing loss. Immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment, but have not yet been systematically investigated in non-malignant tumors such as VS. In our studies, we demonstrated that combining anti-PD1 (PD1) treatment with radiation therapy (RT) provides three significant therapeutic benefits: i) Enhanced PD1 efficacy and immune memory: RT induces immunogenic cell death and activates the STING pathway, enhancing PD1 efficacy and generating long-term immune memory, ii) Reduced RT dose and associated tissue injury: The combination strategy reduces the required RT dose necessary for effective tumor control, potentially minimizing RT injury to surrounding normal tissues, and iii) Elicited abscopal effects on cerebellopontine angle (CPA) schwannomas: RT to peripheral nerve tumor induces a systemic abscopal effect, which synergizes with PD-1 to effectively control intracranial schwannomas without direct irradiation, sparing the cochlea from radiation exposure and avoiding auditory radiation injury. Together, our findings provide a compelling rationale for deploying ICIs in combination with radiotherapy as a novel treatment approach for patients with VS and NF2-SWN.

cancer biology↗

Enhanced Tumor Control and Hearing Loss Prevention Achieved with Combined Immune Checkpoint Inhibitor and Anti-VEGF Therapy in Vestibular Schwannoma Model

BackgroundNF2-related schwannomatosis (NF2-SWN) is a debilitating condition that calls for robust treatment options. The defining feature of NF2-SWN is the presence of bilateral vestibular schwannomas (VSs), which grow over time and can result in irreversible sensorineural hearing loss, significantly affecting the quality of life for those affected. At present, there are no FDA-approved medications specifically for treating VS or related hearing loss. VS management involves radiotherapy or surgical resection, while bevacizumab, an anti-vascular endothelial growth factor (VEGF) monoclonal antibody (VEGF) may be used off-label in NF2-SWN to shrink the tumor. However, not all patients respond, and the effect is not always durable. There is a critical need for effective medications that can stop the growth of VS and prevent hearing loss associated with these tumors. While immune checkpoint inhibitors have transformed cancer therapy, their potential has not been thoroughly explored in non-malignant tumors such as VS. MethodsWe characterize the effects of anti-PD1 (PD1) treatment on tumor growth and hearing function in two syngeneic, immune-competent VS models. ResultsWe demonstrated that combining VEGF treatment with PD1 significantly enhances the efficacy of each monotherapy. Specifically, i) VEGF enhances PD1 efficacy by normalizing the tumor vasculature to improve drug delivery and immune cell infiltration, and by activating T cell and NK cell anti-tumor cytotoxicity via NKG2D upregulation; and ii) combining PD1 with VEGF treatment effectively controls tumors that progressed despite VEGF treatment. ConclusionThese findings provide a strong foundation for the development of PD1 with VEGF combination therapies for patients with NF2-SWN. Key pointsWe filled a critical gap in NF2 research: 1) we characterized the effects of immunotherapy on tumor growth and hearing function in non-malignant vestibular schwannomas 2) We showed combined anti-VEGF and anti-PD1 enhances the efficacy of each monotherapy Importance of the studyTreatment options for patients with NF2-SWN are limited or are associated with significant co-morbidities. There are no approved medical treatments for NF2-related tumors. While immune checkpoint inhibitors have transformed cancer therapy, their potential has not been thoroughly explored in non-malignant tumors such as VS. Our work filled this critical gap in NF2-SWN research. For the first time, we systemically evaluated ICI efficacy on tumor growth and hearing function in non-malignant schwannomas. Furthermore, we demonstrated that combining VEGF treatment with PD1 significantly enhances the efficacy of each monotherapy. Specifically: i) VEGF enhances PD1 efficacy by normalizing the tumor vasculature to improve drug delivery and immune cell infiltration, and by activating T cell and NK cell anti-tumor cytotoxicity via NKG2D upregulation; and ii) combining PD1 with VEGF treatment effectively controls tumors that progress despite VEGF treatment. Our findings provide a strong foundation for the development of PD1 with VEGF combination therapies for patients with NF2-SWN.

cancer biology↗

PERK Signaling Maintains Hematopoietic Stem Cell Pool Integrity under Endoplasmic Reticulum Stress by Promoting Proliferation

The integrity of the hematopoietic stem cell (HSC) pool relies on efficient long-term self-renewal and the timely removal of damaged or differentiation-prone HSCs. Previous studies have demonstrated the PERK branch of the unfolded protein response (UPR) drives specific programmed cell death programs to maintain HSC pool integrity in response to ER stress. However, the role of PERK in regulating HSC fate in vivo remains unclear. Here, we demonstrate that PERK is dispensable for normal hematopoiesis and HSC self-renewal under steady-state conditions. In contrast, PERK is activated to promote HSC proliferation and depletion in response to ER stress induced by the inactivation of ER-associated degradation (ERAD), via the knockout of key components of ERAD Sel1L or Hrd1. Inhibition of PERK, either through genetic knockout or knock-in of a point mutation that eliminates PERK kinase activity, significantly restores the HSC defects induced by Sel1L or Hrd1 knockout. Mechanistic studies reveal that ERAD deficiency does not lead to HSC death or ROS accumulation. Instead, PERK promotes the activation of mTOR signaling and drives abnormal proliferation of HSCs, impairing their self-renewal potential. This process removes stressed HSCs, thereby maintaining HSC pool integrity. Our study uncovers a PERK-centered strategy employed by HSCs to preserve their pool integrity independently of apoptosis. Key pointsO_LIPERK is not required for steady-state hematopoiesis but preserves hematopoietic stem cell pool integrity in response to increased ER stress. C_LIO_LIUnder ER stress induced by ERAD deficiency, PERK is activated to promote mTOR signaling and HSC hyper-proliferation, depleting damaged HSCs. C_LI

cell biology↗

Monitoring of Cell-free Human Papillomavirus DNA in Metastatic or Recurrent Cervical Cancer: Clinical Significance and Treatment Implications

PurposeMonitoring of circulating human papillomavirus (HPV) cell-free DNA (cfDNA) is a minimally invasive approach for surveillance in HPV-associated cancers, particularly cervical cancer. The aim of this study was to monitor circulating HPV cfDNA levels in patients with recurrent or metastatic cervical cancer during treatment and follow-up, assessing the utility of HPV cfDNA as a tumor marker for disease surveillance and in guiding clinical treatment decisions. Experimental DesignIn this prospective pilot observational study, levels of HPV cfDNA in serum samples from 28 patients with recurrent or metastatic HPV-positive cervical cancer were measured via digital droplet polymerase chain reaction. Results for HPV cfDNA levels were matched to clinical outcomes and to serum levels of squamous cell carcinoma antigen (SCC-Ag) to assess the clinical potential of HPV cfDNA as a tumor marker. ResultsHPV cfDNA was detected in all 28 patients (100% detection rate). Notably, median baseline HPV cfDNA levels varied according to the metastatic pattern observed in individual patients (P=0.019). Patients with a combined multi-metastatic pattern (lymph node + hematogenous {+/-} diffuse serosal metastasis) exhibited a higher median baseline HPV cfDNA level compared to those with a single-metastasis pattern (local recurrence, lymph node metastasis, or hematogenous metastasis) (P = 0.003). All participants exhibited changes in HPV cfDNA levels over a median monitoring period of 2 months (range 0.3 to 16.9 months) prior to evaluations for treatment response or disease progression. Among 26 patients initially diagnosed with squamous cell cervical cancer, the positivity rate was 100% for HPV cfDNA and 69.2% for SCC-Ag (P = 0.004, 95% confidence interval, 0-0.391). Among 20 patients longitudinally monitored for squamous cell cervical cancer, the concordance with changes in disease status was 90% for HPV cfDNA and 50% for SCC-Ag (P = 0.014, 95% confidence interval, 0.022-0.621). ConclusionsHPV cfDNA is a promising tumor marker for HPV-positive cervical cancer. In the context of precision medicine, HPV cfDNA is poised to play an increasingly pivotal role in monitoring treatment efficacy, providing valuable insights into disease progression, and guiding clinical decisions.

cancer biology↗

Combined transcriptomic, connectivity, and activity profiling of the medial amygdala using highly amplified multiplexed in situ hybridization (hamFISH)

In situ transcriptomic technologies provide a promising avenue to link gene expression, connectivity, and physiological properties of neural cell types. Commercialized methods that allow the detection of hundreds of genes in situ, however, are expensive and therefore typically used for generating unimodal reference data rather than for resource-intensive multimodal analyses. A major bottleneck is the lack of a routine means to efficiently generate cell type data. Here, we have developed hamFISH (highly amplified multiplexed fluorescence in situ hybridization), which enables the sequential detection of 32 genes using multiplexed branched DNA amplification. We used hamFISH to profile the projection, activity, and transcriptomic diversity of the medial amygdala (MeA), a critical node for innate social and defensive behaviors in mice. In total, we profiled 643,834 cells and classified neurons into 16 inhibitory and 10 excitatory types, many of which were found to be spatially clustered. We then examined the organization of outputs of these cells and activation profiles during different social contexts. Therefore, by facilitating multiplexed detection of single molecule RNAs, hamFISH provides a streamlined and versatile platform for multimodal profiling of specific brain nuclei.

neuroscience↗

Comparison of Cd concentration in rice grain between OsNramp5 knock-out mutants and OsHAM3-overexpressing line

Cadmium (Cd) is highly toxic and a carcinogen to humans. Rice is prone to absorbing Cd and accumulating it in the grain, which raises health concerns for rice consumers. OsNramp5 is a major transporter for Cd and manganese (Mn) uptake in rice, whereas OsHMA3 is a tonoplast-localized transporter for Cd detoxification. In this study, we compared the efficiency of OsNramp5 knockout mutation and OsHAM3 overexpression in reducing Cd content in the rice grain. The grain Cd content of the OsNramp5 knockout mutants was significantly lower than that of the wild-type rice T5105. However, the OsNramp5 knockout mutants still had much higher grain Cd content than the similar OsNramp5 mutants reported previously or the OsHAM3 overexpression line developed in our previous study. Pyramiding the OsNramp5 mutant allele and the OsHAM3 transgene in a double homozygous line could not further reduce grain Cd content. The OsNramp5 gene in T5105 has a haplotype II promoter, and its knockout mutation partially impairs Mn uptake in rice. Our results demonstrate that OsHMA3 overexpression works more efficiently in generating low-Cd rice grain than OsNramp5 knockout mutation without affecting Mn uptake in rice.

bioengineering↗

Early to Middle Pleistocene transition shapes the evolution of human-specific mutations associated with height and basal metabolic rate

Understanding the genetic basis of modern-human-specific traits is essential for elucidating the formation of anatomically modern humans (AMHs). Here, we studied the genetic underpinnings of height and basal metabolic rate (BMR), which have undergone extensive modifications in AMHs compared to other Homo species and apes. The results revealed a significant genetic correlation between the two traits. The evolution of the variants associated with height and BMR was heavily influenced by environmental factors, marked by two bursts during the Early to Middle Pleistocene transition and one afterward, accounting for 37.4% of the inferred causal variants for height and BMR. We identified an AMH-specific mutation, rs34590044-A, which emerged around 981,916 years ago, coinciding with the first burst of variants associated with increased height and BMR. rs34590044-A upregulates the expression of ACSF3 via increasing its enhancer activity, leading to increased mitochondrial function, body length, and BMR exclusively in mice fed essential amino acids, specifically threonine-enriched diets, which are characteristic of meat-based diets. Therefore, the emergence of rs34590044-A may contribute to the shift from an herbivorous to a carnivorous diet in AMHs. Our results underscore the complex interplay between genetics and environment in shaping the crucial phenotypes and physiological traits of AMHs.

genetics↗

Decoding dynamic visual scenes across the brain hierarchy

Understanding the computational mechanisms that underlie the encoding and decoding of environmental stimuli is a paramount investigation within the domain of neuroscience. Central to this pursuit is the exploration of how the brain represents visual information across its hierarchical architecture. A prominent challenge resides in discerning the neural underpinnings of the processing of dynamic natural visual scenes. Although considerable research efforts have been made to characterize individual components of the visual pathway, a systematic understanding of the distinctive neural coding associated with visual stimuli, as they traverse this hierarchical landscape, remains elusive. In this study, we leverage the comprehensive Allen Visual Coding dataset and utilize the capabilities of deep learning neural network models to study the question of neural coding in response to dynamic natural visual scenes across an expansive array of brain regions. We find that our decoding model adeptly deciphers visual scenes from neural spiking patterns exhibited within each distinct brain area. A compelling observation arises from the comparative analysis of decoding performances, which manifests as a notable encoding proficiency within both the visual cortex and subcortical nuclei, in contrast to a relatively diminished encoding activity within hippocampal neurons. Strikingly, our results reveal a robust correlation between our decoding metrics and well-established anatomical and functional hierarchy indexes. These findings not only corroborate existing knowledge in visual coding using artificial visual stimuli but illuminate the functional role of these deeper brain regions using dynamic natural scenes. Consequently, our results proffer a novel perspective on the utility of decoding neural network models as a metric for quantifying the encoding of dynamic natural visual scenes, thereby advancing our comprehension of visual coding within the complex hierarchy of the brain.

neuroscience↗

The Hippo/YAP Pathway Mediates the De-differentiation of Corneal Epithelial Cells into Functional Limbal Epithelial Stem Cells In Vivo

Regeneration after tissues injury is often associated with cell fate plasticity, which restores damaged or lost cells. The de-differentiation of corneal epithelial cells (CECs) into functional stem cells after the ablation of innate stem cells, known as limbal epithelial stem cells (LESCs), remains controversial. In this study, we showed the functional maintenance of corneal epithelium after the ablation of innate stem cells, and the regeneration of functional LESCs, which maintained corneal transparency, prevented corneal conjunctivalization and participated in the wound healing. Subsequent intravital lineage tracing revealed that CECs could de-differentiate into active or quiescent LESCs, which functioned as well as their innate counterparts. Furthermore, the de-differentiation of CECs required an intact limbal niche, and the outcome of the competition between conjunctival and corneal epithelium for the limbal niche determined whether the de-differentiation would occur or not. Mechanically, the suppression of YAP signal promoted the de-differentiation of CECs after the ablation of innate stem cells, while the persistent activation of YAP prevented the de-differentiation of CECs after an additional alkali burn to the limbal stroma. These results will pave the way for an alternative approach to treat limbal stem cell deficiency (LSCD) by modulating the de-differentiation of CECs in vivo.

cell biology↗

Interstitial telomeric sequences promote gross chromosomal rearrangement via multiple mechanisms

Telomeric DNA sequences are difficult to replicate. Replication forks frequently pause or stall at telomeres, which can lead to telomere truncation and dysfunction. In addition to being at chromosome ends, telomere repeats are also present at internal locations within chromosomes, known as interstitial telomeric sequences (ITSs). These sequences are unstable and prone to triggering gross chromosomal rearrangements (GCRs). In this study, we quantitatively examined the effect of ITSs on GCR rate in Saccharomyces cerevisiae using a genetic assay. We find that GCR rate increases exponentially with ITS length. This increase can be attributed to the telomere repeat binding protein Rap1 impeding DNA replication and a bias of repairing DNA breaks at or distal to the ITS via de novo telomere addition. Additionally, we performed a genome-wide screen for genes that modulate the rate of ITS-induced GCRs. We find that mutation of core components of the DNA replication machinery leads to an increase in GCRs, but many mutants known to increase GCR rate in the absence of an ITS do not significantly affect GCR rate when an ITS is present. We also identified genes that promote the formation of ITS-induced GCRs, including genes with roles in telomere maintenance, nucleotide excision repair, and transcription. Our work thus uncovers multiple mechanisms by which an ITS promotes GCR. Significance statementTelomeric DNA repeats are found at the ends of linear chromosomes where they, together with specialized proteins that bind to them, protect chromosome ends from degradation and unwanted DNA repair activities. Telomeric repeats can also be found at internal locations in the genome, where they are called interstitial telomeric sequences (ITSs). ITSs are prone to breakage and are associated with human diseases. In this study, using bakers yeast as a model organism, we show that instability at ITSs is driven by multiple factors, and identify genes that either promote or suppress gross chromosomal rearrangements induced by the presence of an ITS.

molecular biology↗

Revisiting the role of the spindle assembly checkpoint in the formation of gross chromosomal rearrangements in Saccharomyces cerevisiae

Multiple pathways are known to suppress the formation of gross chromosomal rearrangements (GCRs), which can cause human diseases including cancer. In contrast, much less is known about pathways that promote their formation. The spindle assembly checkpoint (SAC), which ensures the proper separation of chromosomes during mitosis, has been reported to promote GCR, possibly by delaying mitosis to allow GCR-inducing DNA repair to occur. Here we show that this conclusion is the result of an experimental artifact arising from the synthetic lethality caused by disruption of the SAC and loss of the CIN8 gene, which is often lost in the genetic assay used to select for GCRs. After correcting for this artifact, we find no role of the SAC in promoting GCR. Significance statementA gross chromosomal rearrangement (GCR) is an abnormal structural change of a native chromosome. Examples of GCRs include deletions, duplications, inversions, and translocations. GCRs can lead to genetic diseases such as cancer. A previous study implicated the spindle assembly checkpoint (SAC), which ensures the proper separation of chromosomes during cell division, in facilitating the formation of GCRs. In this study, we show that this is not the case; the SAC does not promote GCR.

molecular biology↗

Human Amniotic Epithelial Cells Promote Chx10-/Pax6+ Muller Glia Subpopulation Reprogramming into Photoreceptor-like Cells

Reprogramming Muller glia to regenerate neurons is a promising strategy for treating retinal degeneration, but whether Muller glia contain subpopulations with different regenerative fates remains unclear. Here, using single-cell RNA-seq analysis and Muller glia lineage-tracing mice with retinal degeneration, we reveal that Muller glia were heterogeneous and identify a specific Muller glial subpopulation (Chx10-/Pax6+) in healthy retinas that is activated and migrate to the outer nuclear layer (ONL) during photoreceptor degeneration. Transplantation of human amniotic epithelial cells (hAECs) facilitates the activation and extensive migration of the Chx10-/Pax6+ Muller glial subpopulation to the ONL, where they are reprogrammed into photoreceptor-like cells. Mechanistically, hAECs degrade the inhibitory extracellular matrix through regulating matrix metalloproteinases, which probably induces remodeling of the microenvironment of Muller glia and contributes to cell reprogramming. Consequently, hAEC transplantation improves visual function in rd10 mice. Our findings uncover a distinctive Muller glial subpopulation with the potential for reprogramming into photoreceptors.

cell biology↗