bioRxiv Science⌕ Search

Biology subjects

Sivan, A.

Publications and source records attributed to Sivan, A..

5 recordsLinked to original sources

Not All Charges Are Equal: Side-Chain Chemistry Reshapes the Disordered Ensemble of α-synuclein

The conformational ensembles of intrinsically disordered proteins (IDPs) are governed by the balance of electrostatic and hydrophobic interactions encoded in their primary sequences. Current polymer-physics models of IDPs frequently group amino acids by coarse-grained properties, such as net charge, often overlooking the distinct residues side-chain chemistries. Analysis across the IDP database reveals that these sequences are sensitive to specific residue identities, where the substitution of aromatic, proline, or hydrophobic groups serves as a primary driver of chain dimensions. However, these data also highlight that even subtle chemical variations between similarly charged residues can consistently shift global compaction. Here, we explore the role of residue identity using small angle X-ray scattering (SAXS) of seven -synuclein variants with progressively increasing numbers of lysine-to-arginine substitutions, two positively charged amino acids with different side-chain chemistry. We show that increasing arginine content drives a systematic compaction of the conformational ensemble, although variants with identical number of substitutions but different positional arrangements suggest influence to the sequence context. Moreover, while increasing salt concentrations shift the structural ensemble from a Gaussian toward a self-avoiding-walk statistics, the arginine-dependent contraction trend remains robust across both regimes. Molecular-dynamics simulations combined with SAXS data reveal that arginine substitutions reduce ensemble heterogeneity by stabilizing transient long-range contacts. Finally, aggregation assays demonstrate that this arginine-driven compaction correlates with an accelerated transition to amyloid fibrils. Our findings demonstrate that chemically subtle substitutions between similarly charged residues can fundamentally reshape the conformational ensemble of IDPs, suggesting that side-chain identity is a critical, yet underappreciated, determinant of protein disorder and proteotoxicity. O_TEXTBOXSignificance StatementIntrinsically disordered proteins (IDPs) are critical to cellular signaling and neurodegeneration, yet our ability to predict their behavior remains limited by a "coarse-grained" understanding of their sequences. We expand the view that net charge and patterning is a primary determinant of IDP dimensions by showing that lysine and arginine, residues identical in charge, exert opposite effects on the conformational landscape of -synuclein model-system. We find that arginine substitutions act as a "molecular glue", driving protein compaction and reducing ensemble heterogeneity. Crucially, this compaction accelerates amyloid aggregation, overturning the conventional assumption that collapsed states protect against fibrillization. This work demonstrates that side-chain identity and patterning are vital for protein homeostasis, providing a new framework for the rational design of IDP-based therapeutics. C_TEXTBOX

biophysics↗

Neurofilament Light Disordered Tail Mutations Reshape Its Self-Assembled Network Structure

Proteins with intrinsically disordered regions (IDRs) perform essential cellular functions despite lacking stable structures, challenging the traditional structure-function paradigm. Neurofilament-light (NFL) proteins assemble into bottlebrush filaments, whose disordered tail domains mediate nematic hydrogel formation critical for neuronal integrity. Mutations in NFL are linked to Charcot-Marie-Tooth (CMT) disease, yet their molecular effects remain unclear. Here, aiming to gain insight into these molecular mechanisms, we combine small-angle X-ray scattering, microscopy, and deep-learning conformational analysis to investigate CMT-associated NFL tail mutations. We find that these mutations induce pathological hydrogel compaction, disrupt filament nematic order by generating microdomains, and alter water retention dynamics by reshaping of sequence-dependent conformational ensembles, leading to macroscopic network rearrangements. These findings provide mechanistic insight into how subtle sequence changes in IDRs modulate protein network organization and function, informing an understanding of IDR-related pathologies and mutation-based disease characterization.

biophysics↗

Non-Optimal Codon Usage Shapes Cell Cycle Regulators: Codon Optimization Studies on CDK1 and NUF2

The expression and functions of genes are largely dependent on genome integrity and stability. Codon usage plays a significant role in maintaining stability and functions of genes. Perturbation in codon sequence can lead to functional and structural dysfunction of a gene. In our study, we performed the codon usage analyses of cell cycle-dependent genes. Various codon usage parameters analyzed using nucleotide compositions like RSCU, ENC, and GC analyses showed that cell cycle dependent genes follow non-optimal codon usage. Genes preferred AT-rich ending over GC-rich ending, thereby suggesting preference for non-optimal codons. Neutrality and parity plot showed that the codon preference is a result of mutation selection pressure. To study the codon usage implications, we optimized the codons of cell cycle dependent genes (CDK1 and NUF2) to study their effects on cell cycle and apoptosis in vitro. We observed that codon optimization alters the cell cycle length in cell cycle-dependent genes impacting cell fate and survival. Our studies revealed that codon usage preferences directly affect the stability of both mRNA and proteins. Specifically, genes and proteins with non-optimal codons exhibited reduced stability compared to their optimized counterparts, suggesting critical implications for cell cycle regulation and apoptosis.

molecular biology↗

Single cell transcriptomics reveals enrichment of aggregation-prone alpha-synuclein isoforms across synucleinopathies

Alpha-synuclein (-Syn) is the primary component of Lewy bodies, the pathological hallmark of neurodegenerative synucleinopathies, including Parkinsons disease (PD) and dementia with Lewy bodies (DLB). Dysregulated expression of its encoding gene, SNCA, has been identified in association with both PD and DLB in short-read sequencing studies. However, such studies do not capture variation in transcript isoforms expressed. Here we combine for the first time SNCA-targeted long-read multiplexed arrays isoform sequencing (MAS-Iso-seq) with unbiased short-read single nucleus (sn) RNA-seq for simultaneous characterization of the SNCA transcript isoform landscape and mapping of isoform expression to specific cell types and subtypes in PD, DLB, and control sample cortical tissues. This approach enabled discovery of numerous SNCA transcript isoforms displaying novel splicing patterns and incorporating novel exons. We further identified an abundant class of transcript isoforms encoding a previously unreported -Syn protein variant (-Syn-115) and displaying increased proportional detection in excitatory neurons of PD and DLB tissues in comparison to controls. The proportion of these isoforms was found to be especially high within several specific glutamatergic neuron subtypes. In-depth characterization of the predicted structural and biochemical properties of -Syn-115 using an in silico modeling approach revealed a greater aggregative affinity compared with canonical -Syn-140, suggesting the potential for increased cytosolic -Syn-115 abundance to induce aggregation between heterogeneous -Syn isoforms, potentially driving fibril formation and disease progression. Together, our findings provide new insights into the molecular mechanisms underlying -Syn involvement in multiple synucleinopathies and have translational implications for the development of new precision medicine strategies to combat these diseases, indicating the potential for treatments targeting both specific transcript and protein isoforms, as well as disease-driving cell subtypes.

neuroscience↗

Colorectal cancer detection and treatment with engineered probiotics

Bioengineered probiotics enable new opportunities to improve colorectal cancer (CRC) screening, prevention and treatment strategies. Here, we demonstrate the phenomenon of selective, long-term colonization of colorectal adenomas after oral delivery of probiotic E. coli Nissle 1917 (EcN) to a genetically-engineered murine model of CRC predisposition. We show that, after oral administration, adenomas can be monitored over time by recovering EcN from stool. We also demonstrate specific colonization of EcN to solitary neoplastic lesions in an orthotopic murine model of CRC. We then exploit this neoplasia-homing property of EcN to develop early CRC intervention strategies. To detect lesions, we engineer EcN to produce a small molecule, salicylate, and demonstrate that oral delivery of this strain results in significantly increased levels of salicylate in the urine of adenoma-bearing mice, in comparison to healthy controls. We also assess EcN engineered to locally release immunotherapeutics at the neoplastic site. Oral delivery to mice bearing adenomas, reduced adenoma burden by [~]50%, with notable differences in the spatial distribution of T cell populations within diseased and healthy intestinal tissue, suggesting local induction of robust anti-tumor immunity. Together, these results support the use of EcN as an orally-delivered platform to detect disease and treat CRC through its production of screening and therapeutic molecules.

bioengineering↗