bioRxiv Science⌕ Search

Biology subjects

Karim, A.

Publications and source records attributed to Karim, A..

13 recordsLinked to original sources

Cell-free pathway prototyping enables cost-effective biomanufacturing of 1,2,4-butanetriol at the 1-L scale

Biomanufacturing offers sustainable alternatives to chemical synthesis under lower temperatures and pressures than traditional catalytic methods. However, the slow pace and iterative engineering bottlenecks of cell strain development restrict the feasible biological design space. Cell-free systems circumvent these constraints, providing a flexible and high-throughput screening approach to accelerate pathway prototyping and enzyme optimization but are not typically used for manufacturing scale-up. To understand the scalability of cell-free biosynthesis, we establish an end-to-end fully cell-free architecture to discover, develop, and scale the biosynthesis of 1,2,4-butanetriol (BT), a high-value industrial platform chemical. First, we systematically screened ~150 enzymes across the 4-step pathway from xylose to BT to identify highly active homologs for each reaction. Next, we applied statistical Design of Experiments to optimize reaction formulations for cost and titer. Finally, the maximum-titer and minimum-cost formulations were scaled up across five orders of magnitude, from 10-{micro}L to 1-L reactions. This resulted in peak volumetric productivities of ~1 g/L/h and yields over 13 g of BT in a single 1-L reaction, with raw substrate costs totaling just $3.00 per liter. This work expands the diversity of enzymes tested for BT synthesis and establishes a blueprint for advancing industrial biochemical manufacturing fully in vitro.

synthetic biology↗

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations

Spinocerebellar ataxia type 1 (SCA1) is a progressive neurodegenerative disorder caused by polyglutamine expansion in ATXN1, yet the normal physiological roles of ATXN1 and its paralog ATXN1L remain incompletely understood. To define these roles, we generated the first zebrafish knockouts (KOs) of the three ataxin-1 family genes, atxn1a, atxn1b, and atxn1l, using CRISPR/Cas9. These mutants reveal distinct and shared developmental, behavioral, and transcriptomic alterations. All KOs showed reduced early survival and mild larval growth deficits, indicating essential developmental functions. Behavioral assays revealed distinct paralog-specific effects: atxn1a KO larvae exhibited a unique light-dependent locomotor deficit, whereas atxn1b and atxn1l KOs displayed global hypoactivity. Adult behavioral assessment revealed a gradient of phenotypic severity: atxn1a KOs displayed the earliest and most pronounced alterations in vertical tank exploration and the greatest impairment in swim-tunnel performance, followed by atxn1b and then atxn1l mutants. To define molecular mechanisms underlying these phenotypes, we performed RNA-seq at 5 days post-fertilization and identified unique and shared differentially expressed genes across the three KO lines. Shared transcriptomic signatures highlighted suppression of leukotriene-biosynthetic pathways and diminished innate-immune pathways; suggesting that ATXN1-family genes influence neuroimmune signaling during early development. Weighted gene co-expression network analysis identified distinct KO-associated gene modules, including a phototransduction-enriched module strongly correlated with atxn1a KO status, offering a mechanistic link to its light-dependent locomotor phenotype. Together, these findings establish a comprehensive assessment of zebrafish models that reveal both shared core functions and specialized roles of ATXN1-family genes in development, neuroimmune regulation, sensorimotor behavior, and retinal signaling.

neuroscience↗

The Molecular Picture of the Local Environment in a Stable Model Coacervate

Polymers with electric charge, known as polyelectrolytes, are well known to form complex coacervates, which have vital implications in various biological processes and beyond. While significant advancements have been made in comprehending the molecular interactions that drive complex coacervation, the interactions that stabilize the coacervates against coalescence present an intricate experimental challenge and remain a subject of ongoing investigation. In a recent experimental study, polydiallyldimethylammonium chloride polycationic (PDDA) and anionic adenosine triphosphate (ATP) coacervates have been shown to stabilize upon transferring them to deionized water. Here, we perform molecular dynamics simulations of PDDA-ATP coacervates both in supernatant and in DI water, to understand the ion dynamics and structure within stable coacervates. We produced and analyzed an aggregated sum of 63 s simulation data of PDDA-ATP coacervates in explicit water when they are in supernatant and deionized (DI) water. We found that discarding the supernatant and transferring the coacervates to DI water causes an immediate ejection of a significant amount (more than 50%) of small ions (Na+ and Cl-) from the coacervates to the bulk solution. Subsequently, the DI water environment alters the ionic density profiles in coacervates and the surface ion dynamics. We calculated a notable slowdown for the coacervate ions when they were transferred to the DI water. These results suggest that the initial ejection of the ions from the coacervates in DI water potentially brings the outer layer of the coacervates to a physically bound state that prevents or slows down the further mobility of ions. Significance StatementComplex coacervates are promising agents for encapsulating and delivering various materials in living organisms, however, they are often prone to coalesce, limiting the range of their applications. Recently, these coacervates have been stabilized by transferring them to deionized water. However, a molecular understanding of this stability against coalescence remained elusive. This study utilizes computer simulations to model a stable coacervate system previously probed experimentally. When the coacervates were transferred to deionized water, a significant portion of the ions were immediately ejected into the solution, modifying the coacervates total charge and facilitating formation of possible surface crust. These molecular insights into the stable coacervates will enable their controllable design for encapsulation and delivery applications.

biophysics↗

Multi-parametric assays capture sex- and environment-dependent modifiers of behavioral phenotypes in autism mouse models

Current phenotyping approaches for murine autism models often focus on one selected behavioral feature, making the translation onto a spectrum of autistic characteristics in humans challenging. Furthermore, sex and environmental factors are rarely considered. Here, we aimed to capture the full spectrum of behavioral manifestations in three autism mouse models to develop a "behavioral fingerprint" that takes environmental and sex influences under consideration. To this end, we employed a wide range of classical standardized behavioral tests; and two multi-parametric behavioral assays: the Live Mouse Tracker and Motion Sequencing (MoSeq), on male and female Shank2, Tsc1 and Purkinje cell specific-Tsc1 mutant mice raised in standard or enriched environments. Our aim was to integrate our high dimensional data into one single platform to classify differences in all experimental groups along dimensions with maximum discriminative power. Multi-parametric behavioral assays enabled far more accurate classification of experimental groups compared to classical tests, and dimensionality reduction analysis demonstrated significant additional gains in classification accuracy, highlighting the presence of sex, environmental and genotype differences in our experimental groups. Together, our results provide a complete phenotypic description of all tested groups, suggesting multi-parametric assays can capture the entire spectrum of the heterogenous phenotype in autism mouse models.

neuroscience↗

Nanopore sequencing of antibiotic-resistant Klebsiella pneumoniae JRCGR1 isolate from Pakistan and country scale pan-genomics

Klebsiella pneumoniae is a gram-negative, encapsulated, non-motile bacterium that can cause damage to human lungs. Antibiotic resistance of this strain requires constant monitoring and for this purpose, Oxford nanopore mediated whole genome sequencing was done for a strain acquired from the pleural fluid of a diabetic patient suffering from chronic kidney disease. A genome of 5.98 MB was obtained, with 8,869 CDSs and 110 RNAs. Around 96 proteins were seen as involved in virulence, disease or defense, while 25 antibiotic resistance genes were identified. Pan-genome was inferred as open, with 12,857 and 1,303 CDSs forming respective accessory and core genome of antibiotic resistant Pakistani strains (n=168) of this species. Apart from notable antimicrobial resistance genes like beta-lactamases, a gene conferring resistance to colistin was also mined. To the best of our knowledge, this is first report of nanopore mediated long read sequencing of a hypermucoviscous virulent K. pneumoniae from Pakistan.

genomics↗

Astrocytic L-lactate signaling in the anterior cingulate cortex is essential for schema memory and neuronal mitochondrial biogenesis

Astrocyte-derived L-lactate was shown to confer beneficial effects on synaptic plasticity and cognitive functions. However, how astrocytic Gi signaling in the anterior cingulate cortex (ACC) modulates L-lactate levels and schema memory is not clear. Here, using chemogenetic approach and well-established behavioral paradigm, we demonstrate that astrocytic Gi pathway activation in ACC causes significant impairment in flavor-place paired associates (PA) learning, schema formation, and PA memory retrieval in rats. It also impairs new PA learning even if a prior associative schema exists. These impairments were mediated by decreased L-lactate in ACC due to astrocytic Gi activation. Concurrent exogenous L-lactate administration bilaterally into the ACC rescues these impairments. Furthermore, we show that the impaired schema memory formation was associated with a decreased neuronal mitochondrial biogenesis caused by decreased L-lactate level in ACC upon Gi activation. Our study also reveals that L-lactate mediated mitochondrial biogenesis is dependent on monocarboxylate transporter 2 and NMDA receptor activity - discovering a previously unrecognized signaling role of L-lactate. These findings expand our understanding of the role of astrocytes and L-lactate in brain functions.

neuroscience↗

Evaluation of Association between CSN2 Genetic Marker 7:32016718C>A with A1/A2 Milk in Pakistani Buffaloes

Milk is an essential part of the diet that plays an important role in human growth and development due to the presence of different components like calcium, fats and proteins. Among six major proteins of the milk, {beta}-casein is one of them which is being investigated here due to the A1/A2 milk genetic variants and its associated gene of CSN2 in one of the valued species of Bubalus bubalis in Pakistan. Fifty buffalo samples were genotyped using the ARMS-PCR technique. CSN2 gene locus 32016718C>A is located on Chr.7 with CDS position c.350C>A on its 7th exon as per (GenBank transcript ID: XM_006071124.3). In {beta}-casein, 117th amino acid position where histidine (CAT) is responsible for A1 and proline (CCT) for A2 milk phenotype. A2 milk is considered to be healthy for human health due to the absence of bioactive peptide {beta}-casomorphin-7 (BCM7) in comparison with A1 milk. The current results showed that overall, 100% buffalo population is homozygous wild-type (CC) which means no mutant allele is detected in all studied samples therefore, Pakistani buffalo is exclusively producing A2 milk. Furthermore, this work may also be conducted on different buffalo breeds in Pakistan as well as other species of cattle, goat, sheep and camel to explore their genomic architecture for this valued trait.

genetics↗

Genetic Association of CSN2 Variant 6:85451298C>A with A1/A2 Milk Phenotype in Pakistani Cows

The cow is a very important mammal from the bovine family renowned for providing milk, meat and hide around the globe. {beta}-casein is one of the principal proteins found in cows milk encoded by the CSN2 gene with 12-13 reported genetic variants present on Chr.6 in the cows genome. The current study investigated A1/A2 associated variant g.6:85451298C>A (rs43703011) in exon 7th according to the GenBank ID: M55158.1 position 8101C>A (c.245C>A), which is responsible to change the 67th amino acid of the {beta}-casein polypeptide from proline (CCT, A2) to histidine (CAT, A1). The milk containing A2 protein variant is good while A1 milk has some negative effects on human health due to the production of {beta}-casmomorphin-7. Genetic screening of the subject variant was conducted using ARMS-PCR on 48 native and exotic cows from Pakistan. Our initial results showed that 37.5% of the population is homozygous wild-type (C/C), 56.25% is heterozygous (C/A) and the remaining 6.25% is homozygous mutant-type (A/A). Additionally, the Chi-square association test was applied using the PLINK data analysis toolset which presented a significant p-value of 2.811x10-3 and OR of 3.8 with an alternative allele frequency of 0.2 and 0.5 in native and exotic populations respectively. Hence, there is significant variability in A1/A2 genotype which may be addressed by adopting selective breeding programs in Pakistan.

genetics↗

Refolding of lid subdomain of SARS-CoV-2 nsp14 upon nsp10 interaction releases exonuclease activity.

During the RNA replication, coronaviruses require proofreading to maintain the integrity of their large genomes. Nsp14 associates with viral polymerase complex to excise the mismatched nucleotides. Aside from the exonuclease activity, nsp14 methyltransferase domain mediates cap methylation, facilitating translation initiation and protecting viral RNA from recognition by the innate immune sensors. The nsp14 exonuclease activity is modulated by a protein co-factor nsp10. While the nsp10/nsp14 complex structure is available, the mechanistic basis for nsp10 mediated modulation remains unclear in the absence of nsp14 structure. Here we provide a crystal structure of nsp14 in an apo-form. Comparative analysis of the apo- and nsp10 bound structures explain the modulatory role of the co-factor protein. Further, the structure presented in this study rationalizes the recently proposed idea of nsp14/nsp10/nsp16 ternary complex.

microbiology↗

Despite the odds: formation of the SARS-CoV-2 methylation complex.

Coronaviruses protect their single-stranded RNA genome with a methylated cap during replication. The capping process is initiated by several nonstructural proteins (nsp) encoded in the viral genome. The methylation is performed by two methyltransferases, nsp14 and nsp16 where nsp10 acts as a co-factor to both. Aditionally, nsp14 carries an exonuclease domain, which operates in the proofreading system during RNA replication of the viral genome. Both nsp14 and nsp16 were reported to independently bind nsp10, but the available structural information suggests that the concomitant interaction between these three proteins should be impossible due to steric clashes. Here, we show that nsp14, nsp10, and nsp16 can form a heterotrimer complex. This interaction is expected to encourage formation of mature capped viral mRNA, modulating the nsp14s exonuclease activity, and protecting the viral RNA. Our findings show that nsp14 is amenable to allosteric regulation and may serve as a novel target for therapeutic approaches.

microbiology↗

Signature molecular changes in the skeletal muscle of hindlimb unloaded mice

Hind-limb unloaded (HU) mouse is a well-recognized model of muscle atrophy; however the molecular changes in the skeletal muscle during unloading are poorly characterized. We have used Fourier transform infrared (FTIR) and Raman spectroscopy to evaluate the structure and behavior of signature molecules involved in regulating muscle structural and functional health. The FTIR and the Raman spectroscopic analysis of gastrocnemius muscles was compared between 16-18 weeks old HU c57Bl/6J mice and ground-based controls. The molecular components of the samples were identified by using the FTIR spectra from the control and the unloaded samples. The Raman spectra showed that the signals for asparagine and glutamine were reduced in HU mice, possibly indicating increased catabolism. The peaks for hydroxyproline and proline were split, pointing towards molecular breakdown and reduced tendon repair. We also report a consistently increased intensity in > 1300 cm-1 range in the Raman spectra along with a shift towards higher frequencies in the HU mice, indicating activation of sarcoplasmic reticulum (SR) stress during HU. SIGNIFICANCEMouse model of hindlimb unloading recapitulates many features of disuse muscle atrophy due to spaceflight and prolonged bed rest. However, a thorough understanding of molecular changes underlying muscle detriment in disuse partly remains elusive. We have applied the spectroscopic and density functional techniques conjointly to characterize the molecular changes in the skeletal muscle of hindlimb unloaded mice. A number of conformational changes and the breakdown of the molecular bonds in the skeletal muscle are observed, which can potentially dictate loss of muscle mass and strength during mechanical unloading. Our reporting of the signature spectral changes in the unloaded skeletal muscle can be a useful step towards the therapeutic interventions targeting specific molecules.

biophysics↗

Modelling early thermal injury using an ex vivo human skin model of contact burns

BackgroundEarly mechanisms underlying the progressive tissue death and the regenerative capability of burn wounds are understudied in human skin. A clinically relevant, reproducible model for human burn wound healing is needed to elucidate the early changes in the human burn wound environment. This study reports a reproducible contact burn model on human skin that explores the extent of tissue injury and healing over time, and defines the inter-individual variability in human skin to enable use in mechanistic studies on burn wound progression and healing. MethodsUsing a customized burn device, contact burns of various depths were created on human skin by two operators and were evaluated for histologic depth by three raters to determine reproducibility. Early burn wound progression and wound healing were also evaluated histologically after the thermally injured human skin was cultured ex vivo for up to 14 days. ResultsBurn depths were reproducibly generated on human skin in a temperature- or time-dependent manner. No significant difference in operator-created or rater-determined depth was observed within each patient sample. However, significant inter-individual variation was identified in burn depth in ten patient samples. Burn-injured ex vivo human skin placed into culture demonstrated differential progression of cell death and collagen denaturation for high and low temperature contact burns, while re-epithelialization was observed in superficial burn wounds over a period of 14 days. ConclusionThis model represents an invaluable tool to evaluate the inter-individual variability in early burn wound progression and wound healing to complement current animal models and enhance the translation of preclinical research to improvements in patient care.

cell biology↗

Modular cell-free expression plasmids to accelerate biological design in cells

Industrial biotechnology aims to produce high-value products from renewable resources. This can be challenging because model microorganisms--organisms that are easy to use like Escherichia coli--often lack the machinery required to utilize desired feedstocks like lignocellulosic biomass or syngas. Non-model organisms, such as Clostridium, are industrially proven and have the desired metabolic features but have several hurdles to mainstream use. Namely, these species grow more slowly than conventional laboratory microbes and genetic tools for engineering them are far less prevalent. To address these hurdles for accelerating cellular design, cell-free synthetic biology has emerged as an approach for characterizing non-model organisms and rapidly testing metabolic pathways in vitro. Unfortunately, cell-free systems can require specialized DNA architectures with minimal regulation that are not compatible with cellular expression. In this work, we develop a modular vector system that allows for T7 expression of desired enzymes for cell-free expression and direct Golden Gate assembly into Clostridium expression vectors. Utilizing the Joint Genome Institutes DNA Synthesis Community Science Program, we designed and synthesized these plasmids and genes required for our projects allowing us to shuttle DNA easily between our in vitro and in vivo experiments. We next validated that these vectors were sufficient for cell-free expression of enzymes, performing on par with the previous state-of-the-art. Lastly, we demonstrated automated six-part DNA assemblies for C. autoethanogenum expression with efficiencies ranging from 68-90%. We anticipate this system of plasmids will enable a framework for facile testing of biosynthetic pathways in vitro and in vivo by shortening development cycles.

synthetic biology↗