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Gsponer, J.

Publications and source records attributed to Gsponer, J..

11 recordsLinked to original sources

De Novo Design of Protein Switches with Diffusion-Based Ensemble Sampling

Protein switches are proteins that can respond to biochemical stimuli by rearranging their structural elements, essential for cells to transduce signals. The de novo design of such proteins requires amino acid sequences whose energy landscapes support multiple stimulus-dependent conformations, yet most current de novo protein design pipelines are optimized for single stable structures. Existing multi-state inverse-folding methods can design sequences compatible with multiple backbones, but they assume that suitable backbone ensembles are already available, often requiring expert knowledge. We introduce Diff-Switch, a framework for sampling switch-like backbone ensembles from pretrained protein diffusion models. Given a reference backbone structure and domain decomposition, our method preserves local domain geometry while encouraging diversity in global domain arrangements along user-specified collective variables, inspired by metadynamics. We implement this objective through a controlled diffusion sampler with reward-tilting for local similarity between the ensemble members and history-dependent bias in collective-variable space to avoid repeated sampling of the same global arrangement. The resulting ensembles provide candidate conformational states for downstream multi-state inverse folding. Across our evaluation set of 20 diverse proteins, using conformations from these generated ensembles improves the success rate of finding switch-compatible sequences over baseline sampling. We further apply the method to a real-world protein switch design task and characterize the resulting designs.

bioinformatics↗

The Hidden Disorder Divide: Reconciling Benchmark Inconsistencies in Intrinsically Disordered Protein Binding Site Prediction

Computational predictors of protein-binding sites within intrinsically disordered regions (IDRs) show highly inconsistent performance across high-quality benchmark datasets. To understand the origins of these discrepancies, we systematically compared predictors across three independent test sets: two CAID datasets updated with the latest DisProt annotations and a composite dataset (DBs) assembled from DIBS, FuzDB, IDEAL, and MFIB. Predictors trained predominantly on DisProt data achieved substantially higher AUCs on the CAID sets but performed poorly on the DBs. In contrast, predictors trained on older, low-quality PDB-based datasets showed balanced performance across all sets, with a slight preference for DBs. Predictors with mixed training exposure displayed intermediate behavior. Through controlled experiments using identical CNN architectures and feature analysis, we demonstrate that the dominant factor driving these performance differences is the intrinsic disorder propensity of the binding sites themselves. Binding residues in DisProt-based datasets exhibit markedly higher average disorder propensity scores than those in PDB-derived datasets. This previously unrecognized selection bias -- literature studies preferentially characterizing more disordered binding sites, while PDB-derived annotations capture less disordered ones -- effectively splits IDR-protein binding sites into two distinct categories. Predictors optimized on one category therefore generalize poorly to the other. Binding-site length and sequence conservation play only minor or negligible roles in explaining the observed inconsistencies. These findings highlight a critical limitation in current benchmarking practices and training strategies for IDR-binding site prediction, underscoring the need for more balanced and disorder-aware reference datasets. Finally, the diagnostic techniques introduced here could prove valuable beyond the specific application examined in this study. The data and code used to generate all figures and tables are available at: https://github.com/NawarMalhis/HDD

bioinformatics↗

Predicting molecular recognition features in protein sequences with MoRFchibi 2.0

Molecular Recognition Features (MoRFs) are segments within disordered protein regions (IDRs) that undergo a disorder-to-order transition upon binding to their partners. Identifying MoRFs remains a significant challenge. This paper introduces MoRFchibi 2.0, a specialized prediction tool designed to identify the locations of MoRFs within protein sequences. Our results show that MoRFchibi 2.0 outperforms all existing MoRF and general predictors of protein-binding sites within IDRs, including top-performing models from CAID rounds 1, 2, and 3. Remarkably, MoRFchibi 2.0 surpasses predictors that utilize AlphaFold data and state-of-the-art protein language models, achieving superior ROC and Precision-Recall curves and higher success rates. MoRFchibi 2.0 generates output scores using an ensemble of logistic regression convolutional neural network models, followed by a reverse Bayes Rule to adjust for priors in the training data. These scores reflect MoRF probabilities normalized for the priors in the training data, making them individually interpretable and compatible with other tools utilizing the same scoring framework. AvailabilityAn online server: https://mc2.msl.ubc.ca/index.xhtml and code: https://github.com/NawarMalhis/MC2.git.

bioinformatics↗

AR-V7 condensates drive androgen-independent transcription in castration resistant prostate cancer

Biomolecular condensates organize cellular environments and regulate key processes such as transcription. We previously showed that full-length androgen receptor (AR-FL), a major oncogenic driver in prostate cancer (PCa), forms nuclear condensates upon androgen stimulation in androgen-sensitive PCa cells. Disrupting these condensates impairs AR-FL transcriptional activity, highlighting their functional importance. However, resistance to androgen deprivation therapy often leads to castration-resistant prostate cancer (CRPC), driven by constitutively active splice variants like AR variant 7 (AR-V7). The mechanisms underlying AR-V7s role in CRPC remain unclear. In this study, we characterized the condensate-forming ability of AR-V7 and compared its phase behavior with AR-FL across a spectrum of PCa models and in vitro conditions. Our findings indicate that cellular context can influence AR-V7s condensate-forming capacity. Unlike AR-FL, AR-V7 spontaneously forms condensates in the absence of androgen stimulation and functions independently of AR-FL in CRPC models. However, AR-V7 requires a higher concentration to form condensates, both in cellular contexts and in vitro. We further reveal that AR-V7 drives transcription via both condensate-dependent and condensate-independent mechanisms. Using an AR-V7 mutant incapable of forming condensates, while retaining nuclear localization and DNA-binding ability, we reveal that the condensate-dependent regime activates part of the oncogenic KRAS pathway in CRPC models. Genes under this condensate-dependent regime were found to harbor significantly higher numbers of AR-binding sites and exhibited boosted expression in response to AR-V7. These findings uncover a previously unrecognized role of AR-V7 condensate formation in driving oncogenic transcriptional programs and shed light on its unique contribution to CRPC progression. HighlightsO_LIAR-V7 condensates form independently of both androgens and AR-FL in CRPC models. C_LIO_LIAR-V7 mediates condensate-dependent and independent transcription C_LIO_LICondensate-dependent transcription enables boosted expression of oncogenic KRAS genes C_LIO_LICondensate-dependent genes exhibit an exponential increase in expression, with a higher number of AR binding sites potentially playing a key role in their reliance on condensate formation. C_LI Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=99 SRC="FIGDIR/small/631986v1_ufig1.gif" ALT="Figure 1"> View larger version (19K): org.highwire.dtl.DTLVardef@16b50d1org.highwire.dtl.DTLVardef@86e3b6org.highwire.dtl.DTLVardef@1cfe7f3org.highwire.dtl.DTLVardef@8532a2_HPS_FORMAT_FIGEXP M_FIG C_FIG

cancer biology↗

Analysis of protein levels and solubility in distinct brain regions reveals several elements of the protein homeostasis network that are impacted by aging

The onset of protein conformation diseases is inextricably linked to aging. During aging, cellular protein quality control declines which results in diminished protein homeostasis (proteostasis). In model organisms, such as C. elegans and killifish, proteostatic decline with age has been linked to the onset of aggregation of proteins in wild-type animals, observed through detergent-insoluble fractionation. Analysis of studies applying detergent-insoluble fractionation in mice revealed that the composition of detergent-insoluble proteins changes with age. However, these individual fractionation studies have generally been limited to small numbers of mice. Herein, we expand on our previous analysis by extending the experiments to a larger cohort of mice and to two brain regions implicated in neurodegenerative diseases, the cortex and hippocampus. These experiments unveil insights into alterations in the abundance and solubility of proteins involved in protein quality control and in inflammation. For example, ribosomal proteins and many chaperone proteins are downregulated with age. Consistent enrichment of subunits of the extracellular C1q complex was also observed in both brain regions alongside an increase in immunoglobulin signal indicating that markers of increased inflammation may also become insoluble during aging. More generally, insoluble proteins share features observed in datasets of impaired protein degradation indicating that the loss of activity of cellular protein degradation machinery may contribute to the specific aggregation of these proteins.

cell biology↗

Shift of the insoluble content of the proteome in aging mouse brain

Aging and protein aggregation diseases are inextricably linked. During aging, cellular response to unfolded proteins are believed to decline which results in diminished protein homeostasis (proteostasis). Indeed, in model organisms, such as C. elegans, proteostatic decline with age has even been linked to the onset of aggregation of proteins in wild-type animals. However, this correlation has not been extensively characterized in aging mammals. To reveal the insoluble portion of the proteome, we analyzed the detergent-insoluble fraction of mouse brain tissues after high-speed centrifugation by quantitative mass spectrometry. We identified a cohort of 171 proteins enriched in the pellet fraction of older mice including the alpha crystallin small heat shock protein. We then performed a meta-analysis to compare features among distinct groups of detergent-insoluble proteins reported in the literature. Surprisingly, our analysis revealed that features associated with proteins found in the pellet fraction differ depending on the ages of the mice. In general, insoluble proteins from young models (<15 weeks) were more likely to be RNA-binding, more disordered and more likely to be found in membraneless organelles. These traits become less prominent with age within the combined dataset, as proteins with more structure enter the pellet fraction. This analysis suggests that age-related changes to proteome organization lead a specific group of proteins to enter the pellet fraction as a result of loss of proteostasis.

cell biology↗

Pulse labeling reveals the tail end of protein folding by proteome profiling

Accurate and efficient folding of nascent protein sequences into their native state requires support from the protein homeostasis network. Herein we probed which newly translated proteins are less thermostable to infer which polypeptides require more time to fold within the proteome. Specifically, we determined which of these proteins were more susceptible to misfolding and aggregation under heat stress using pulse SILAC coupled mass spectrometry. These proteins are abundant, short, and highly structured. Notably these proteins display a tendency to form {beta}-sheet structures, a configuration which typically requires more time for folding, and were enriched for Hsp70/Ssb and TRiC/CCT binding motifs, suggesting a higher demand for chaperone-assisted folding. These polypeptides were also more often components of stable protein complexes in comparison to other proteins. All evidence combined suggests that a specific subset of newly translated proteins requires more time following synthesis to reach a thermostable native state in the cell.

cell biology↗

Dynamic phase separation of the androgen receptor and its coactivators to regulate gene expression.

Numerous cancers, including prostate cancer (PCa), are addicted to transcription programs driven by superenhancers (SEs). The transcription of genes at SEs is enabled by the formation of phase-separated condensates by transcription factors and co-activators with intrinsically disordered regions. The androgen receptor (AR), main oncogenic driver in PCa, contains large disordered regions and is co-recruited with the co-activator MED1 to SEs to promote oncogenic programs. In this work, we show that dynamic AR-rich, liquid-like foci form in PCa models upon androgen stimulation and correlate with AR transcriptional activity. The co-activator MED1 plays an essential role in the formation of AR foci while AR antagonists hinder their formation. These results suggest that enhanced compartmentalization of AR and co-activators at SEs may play an important role in the activation of oncogenic transcription programs in PCa. A better understanding of the assembly and the regulation of these AR-rich compartments may provide novel therapeutic options.

cancer biology↗

Proteomic analysis reveals the recruitment of intrinsically disordered regions to stress granules

Heat-stress triggers the formation of condensates known as stress granules (SGs), which store non-translating mRNA and stalled translation initiation complexes. To gain a better understanding of SGs, we identified yeast proteins that sediment after heat-shock by mass spectrometry. Heat-regulated proteins are biased toward a subset of abundant proteins that are significantly enriched in intrinsically disordered regions (IDRs). SG localization of over 80 heat-regulated proteins was confirmed using microscopy, including 32 proteins that were not known previously to localize to SGs. We find that several IDRs are sufficient to mediate SG recruitment. Moreover, the diffusive exchange of IDRs within SGs, observed via FRAP, can be highly dynamic while other components remain immobile. Lastly, we showed that the IDR of the Ubp3 deubiquitinase is critical for SG formation. This work confirms that IDRs play an important role in cellular compartmentalization upon stress, can be sufficient for SG incorporation, can remain dynamic in vitrified SGs, and play a vital role during heat-stress.\n\nSummaryThe authors provide an in-depth proteomic study of yeast heat stress granule (SG) proteins. They identified intrinsic disordered regions (IDRs) as one of the main features shared by these proteins and demonstrated IDRs can be sufficient for SG recruitment.

cell biology↗

Widespread alteration of protein autoinhibition in human cancers

Autoinhibition is a prevalent allosteric regulatory mechanism in signaling proteins as it prevents spurious pathway activation and primes for signal propagation only under appropriate inputs. Altered functioning of inhibitory allosteric switches underlies the tumorigenic potential of numerous cancer drivers. However, whether protein autoinhibition is altered generically in cancer cells remains elusive. Here, we reveal that cancer-associated missense mutations and fusion breakpoints are found with significant enrichment within inhibitory allosteric switches across all cancer types, which in the case of the fusion breakpoints is specific to cancer and not present in other diseases. Recurrently disrupted or mutated allosteric switches identify established and new cancer drivers. Cancer-specific mutations in allosteric switches are associated with distinct changes in signaling, and suggest molecular mechanisms for altered protein regulation, which in the case of ASK1, DAPK2 and EIF4G1 were supported by biophysical simulations. Our results demonstrate that autoinhibition-modulating genetic alterations are positively selected for by cancer cells, and that their study provides valuable insights into molecular mechanisms of cancer misregulation.

cancer biology↗

An atlas of protein-protein interactions across mammalian tissues

Cellular processes arise from the dynamic organization of proteins in networks of physical interactions. Mapping the complete network of biologically relevant protein-protein interactions, the interactome, has therefore been a central objective of high-throughput biology. Yet, because widely used methods for high-throughput interaction discovery rely on heterologous expression or genetically manipulated cell lines, the dynamics of protein interactions across physiological contexts are poorly understood. Here, we use a quantitative proteomic approach combining protein correlation profiling with stable isotope labelling of mammals (PCP SILAM) to map the interactomes of seven mouse tissues. The resulting maps provide the first proteome-scale survey of interactome dynamics across mammalian tissues, revealing over 27,000 unique interactions with an accuracy comparable to the highest-quality human screens. We identify systematic suppression of cross-talk between the evolutionarily ancient housekeeping interactome and younger, tissue-specific modules. Rewiring of protein interactions across tissues is widespread, and is poorly predicted by gene expression or coexpression. Rewired proteins are tightly regulated by multiple cellular mechanisms and implicated in disease. Our study opens up new avenues to uncover regulatory mechanisms that shape in vivo interactome responses to physiological and pathophysiological stimuli in mammalian systems.

systems biology↗