bioRxiv Science⌕ Search

Biology subjects

Hauser, K.

Publications and source records attributed to Hauser, K..

8 recordsLinked to original sources

Multi-feature Classification to Improve Colorimetric Loop-Mediated Isothermal Amplification Fidelity

Loop-mediated isothermal amplification (LAMP) is a cost-effective and portable assay technique for performing nucleic acid-based diagnostics in the field whose adoption is hindered by design and reproducibility issues. This is due to a complex primer design process that fine-tunes parameters across 6-8 binding regions. The likelihood of assay success depends on satisfying thermodynamic and secondary structure constraints while maintaining target specificity and avoiding overlaps between multiple primers. Software such as the NEB(R) LAMP Primer Design Tool, PREMIER Biosoft LAMP Designer, Primer3, PCR Signature Erosion Tool (PSET), and PrimerExplorer enable automation of this task for researchers. However, in our experience, these programs can sometimes yield inconsistent results in laboratory testing. Here, we approached the issue by comparing and training multiple machine learning (ML) models on primer sets targeting various organisms from working assays and failing ones to determine significant features and improve predictions prior to ordering primer sets. A literature review produced an initial list of primer sets (n=116), which were then filtered down based on reference template availability to discern their FIP/BIP components (F2/F1c and B1c/B2). The final training set (n=109) included sequence and thermodynamic features derived from primers collected from the review (n=74) and those designed in-house with PSET (n=35). Failing assays were difficult to obtain from the publications, so we provided our own (n=23). Using WEKA Experimenter, models were created based on decision tree and Bayesian learning algorithms using an experimental scheme that performed a parameter grid search, seeded replicates, feature selection, and cross-validation while avoiding data-leakage and outputting logs for model comparison, feature analysis, and overfit assessment. Notably, thermodynamic features associated with the F1c and B1c primers consistently appeared in the top ranks according to consensus between information gain, class-correlation, and model-based feature ranking. For classification, the NaiveBayes algorithm had a TP and TN rate of 0.90 ({+/-} 0.02) and 0.73 ({+/-} 0.05) while achieving Cohens kappa coefficient and F-score values of 0.61 ({+/-} 0.06) and 0.91 ({+/-} 0.01). This work highlights how a practical model was built from a small, imbalanced training set incorporating negative research results, of which more are needed to improve generalization and refine parameters critical to assay success.

bioinformatics↗

Identifying and overcoming the sampling challenges in relative binding free energy calculations of a model protein:protein complex

Relative alchemical binding free energy calculations are routinely used in drug discovery projects to optimize the affinity of small molecules for their drug targets. Alchemical methods can also be used to estimate the impact of amino acid mutations on protein:protein binding affinities, but these calculations can involve sampling challenges due to the complex networks of protein and water interactions frequently present in protein:protein interfaces. We investigate these challenges by extending a GPU-accelerated open-source relative free energy calculation package (Perses) to predict the impact of amino acid mutations on protein:protein binding. Using the well-characterized model system barnase:barstar, we describe analyses for identifying and characterizing sampling problems in protein:protein relative free energy calculations. We find that mutations with sampling problems often involve charge-changes, and inadequate sampling can be attributed to slow degrees of freedom that are mutation-specific. We also explore the accuracy and efficiency of current state-of-the-art approaches--alchemical replica exchange and alchemical replica exchange with solute tempering--for overcoming relevant sampling problems. By employing sufficiently long simulations, we achieve accurate predictions (RMSE 1.61, 95% CI: [1.12, 2.11] kcal/mol), with 86% of estimates within 1 kcal/mol of the experimentally-determined relative binding free energies and 100% of predictions correctly classifying the sign of the changes in binding free energies. Ultimately, we provide a model workflow for applying protein mutation free energy calculations to protein:protein complexes, and importantly, catalog the sampling challenges associated with these types of alchemical transformations. Our free open-source package (Perses) is based on OpenMM and available at https://github.com/choderalab/perses.

biophysics↗

Characterization of non-human primate dura in health and neurodegeneration

Brain meninges and associated vasculature participate in brain clearance and are implicated in many neurological conditions such as Alzheimers disease, meningitis, multiple sclerosis, stroke, and traumatic brain injury. However, most of our knowledge concerning brain clearance via meninges is based on rodent data, and relevance to human disease remains unclear. One of the technical barriers in studies of meningeal physiology in health and disease is that existing imaging modalities are suboptimal for large and optically non-transparent meningeal tissue of humans and non-human primate (NHP) animal models. To address this barrier, we performed first characterization of NHP dura by high resolution confocal microscopy of clarified tissue. We investigated vascular structures and resident cells in normal monkeys and primate models of tauopathy and synucleinopathy. We demonstrated the presence of an extensive meningeal vascular network covering the entire tissue surface with resolution to the smallest capillaries. This is also the first work to map lymphatic vessels in the dura of non-human primate (NHP). Overall, the NHP lymphatic meningeal system resembles the anatomy found in rat dura, but it is more complex. Analysis of dura from NPH models of tauopathy and synucleinopathy revealed an association with disease-specific biomarkers (amyloid, tau, -synuclein) with both the blood and lymphatic vasculature. This work has broad relevance to many brain diseases where solute accumulation and abnormal macromolecular clearance is a part of the pathogenesis.

neuroscience↗

Shifting mutational constraints in the SARS-CoV-2 receptor-binding domain during viral evolution

SARS-CoV-2 has evolved variants with substitutions in the spike receptor-binding domain (RBD) that impact its affinity for ACE2 receptor and recognition by antibodies. These substitutions could also shape future evolution by modulating the effects of mutations at other sites--a phenomenon called epistasis. To investigate this possibility, we performed deep mutational scans to measure the effects on ACE2 binding of all single amino-acid mutations in the Wuhan-Hu-1, Alpha, Beta, Delta, and Eta variant RBDs. Some substitutions, most prominently N501Y, cause epistatic shifts in the effects of mutations at other sites, thereby shaping subsequent evolutionary change. These epistatic shifts occur despite high conservation of the overall RBD structure. Our data shed light on RBD sequence-function relationships and facilitate interpretation of ongoing SARS-CoV-2 evolution.

microbiology↗

High prevalence of Klebsiella pneumoniae in European food products: a multicentric study comparing culture and molecular detection methods

Klebsiella pneumoniae species complex (KpSC) is a leading cause of multidrug-resistant human infections. To better understand the potential contribution of food as a vehicle of KpSC, we conducted a multicentric study to define an optimal culture method for its recovery from food matrices, and to characterize food isolates phenotypically and genotypically. Chicken meat (n=160) and salad (n=145) samples were collected in five European countries and screened for KpSC presence using culture-based and ZKIR qPCR methods. Enrichment using buffered peptone water followed by streaking on Simmons citrate agar with inositol (44{degrees}C/48h) was defined as the most suitable selective culture method for KpSC recovery. High prevalence of KpSC was found in chicken meat (60% and 52% by ZKIR qPCR and culture approach, respectively) and salad (30% and 21%, respectively) samples. Genomic analyses revealed high genetic diversity with the dominance of phylogroups Kp1 (91%) and Kp3 (6%). 82% of isolates presented a natural antimicrobial susceptibility phenotype and genotype, with only four CTX-M-15-producing isolates detected. Notably, identical genotypes were found across samples: same food type and same country (15 cases); different food types and same country (1); same food type and two countries (1), suggesting high rates of transmission of KpSC within the food sector. Our study provides a novel isolation strategy for KpSC from food matrices and reinforces the view of food as a potential source of KpSC colonization in humans. ImportanceBacteria of the Klebsiella pneumoniae species complex (KpSC) are ubiquitous and K. pneumoniae (Kp) is a leading cause of antibiotic-resistant infections in humans and animals. Despite the urgent public health threat represented by Kp, there is a lack of knowledge on the contribution of food sources to colonization and subsequent infection in humans. This is partly due to the absence of standardized methods for characterizing KpSC presence in food matrices. Our multicentric study provides and implements a novel isolation strategy for KpSC from food matrices and shows that KpSC members are highly prevalent in salads and chicken meat, reinforcing the view of food as a potential source of KpSC colonization in humans. Despite the large genetic diversity and the low-levels of resistance detected, the occurrence of identical genotypes across samples suggests high rates of transmission of KpSC within the food sector, which need to be further explored to define possible control strategies.

microbiology↗

Energy-dependent transport at dural lymphatic vessels is necessary for Aβ brain clearance in Alzheimer's disease

Viewed as an imbalance between production and clearance of toxic A{beta} peptides, Alzheimers disease is a candidate for therapies to augment brain waste removal. Prior work has shown that A{beta} accumulates in meninges with aging as a byproduct of normal brain activity, in parallel with build-up of A{beta} oligomers in neurons, blood vessels, and interstitial fluid. Using the TgF344-AD rat model of Alzheimers disease, we now report that dural lymphatic vessels specifically accumulate neurotoxic pyroglutamate amyloid beta (pE3-A{beta}) with aging. Notably, accelerated amyloidosis is observed in meninges after ligation of cervical lymphatics, together with significantly increased pE3-A{beta} and A{beta}42 deposition in upstream brain regions implicated in Alzheimers disease. Blockade of lymphatic clearance is not sufficiently compensated by other efflux pathways, suggesting a necessary role of A{beta} clearance at the level of lymphatics. We further report that dural lymphatic cells actively clear A{beta} via energy-dependent mechanisms, and lymphatic A{beta} transport is significantly impaired both in normal aging and in Alzheimers disease. Dural lymphatic cells isolated from the TgF344-AD rat show ultrastructural abnormalities in mitochondria and abnormal cytoplasmic inclusions, with a distinct transcriptional profile implicating failure of energy-dependent transport. Finally, using human meninges treated with FocusDeep tissue clearing, we demonstrate using whole mount panoramic imaging that dural lymphatic vessels comprise a structurally diverse intracranial vascular network that accumulates pE3-A{beta} with aging, similar to the rat model. We conclude that intracranial meningeal and extracranial cervical lymphatic vessels are targets for Alzheimers disease therapies focused on improving amyloid clearance. One Sentence SummaryLymphatic vessels remove A{beta} from the brain via energy-dependent active transport mechanisms, and blockage of extracranial lymphatic drainage is sufficient to cause significant acceleration of intracranial Alzheimers A{beta} pathology in both meninges and brain.

biochemistry↗

Predicting resistance of clinical Abl mutations to targeted kinase inhibitors using alchemical free-energy calculations

The therapeutic effect of targeted kinase inhibitors can be significantly reduced by intrinsic or acquired resistance mutations that modulate the affinity of the drug for the kinase. In cancer, the majority of missense mutations are rare, making it difficult to predict their impact on inhibitor affinity. This complicates the practice of precision medicine, pairing of patients with clinical trials, and development of next-generation inhibitors. Here, we examine the potential for alchemical free-energy calculations to predict how kinase mutations modulate inhibitor affinities to Abl, a major target in chronic myelogenous leukemia (CML). We find these calculations can achieve useful accuracy in predicting resistance for a set of eight FDA-approved kinase inhibitors across 144 clinically-identified point mutations, achieving a root mean square error in binding free energy changes of [Formula] kcal/mol (95% confidence interval) and correctly classifying mutations as resistant or susceptible with [Formula] accuracy. Since these calculations are fast on modern GPUs, this benchmark establishes the potential for physical modeling to collaboratively support the rapid assessment and anticipation of the potential for patient mutations to affect drug potency in clinical applications.

cancer biology↗

Functional effects of heating and cooling gene networks

Everyday existence and survival of most organisms requires coping with temperature changes, which involves gene regulatory networks both as subjects and agents of cellular protection. Yet, how temperature affects gene network function remains unclear, partly because natural gene networks are complex and incompletely characterized. Here, we study how heating and cooling affect the function of single genes and well-characterized synthetic gene circuits in Saccharomyces cerevisiae. We found nontrivial, nonmonotone temperature-dependent gene expression trends at non-growth-optimal temperatures. In addition, heating caused unusual bimodality in the negative-feedback gene circuit expression and shifts upward the bimodal regime for the positive feedback gene circuit. Mathematical models incorporating temperature-dependent growth rates and Arrhenius scaling of reaction rates captured the effects of cooling, but not those of heating. Molecular dynamics simulations revealed that heating alters the conformational dynamics and allows DNA-binding of the TetR transcriptional repressor, fully explaining the experimental results for the negative-feedback gene circuit. Overall, we uncover how temperature shifts may corrupt gene networks, which may aid future designs of temperature-robust synthetic gene circuits.

synthetic biology↗