Search bioRxiv⌕ Search

Biology subjects

Rana, V.

Publications and source records attributed to Rana, V..

6 recordsLinked to original sources

Mapping the Inter- and Intra-genic Codon Usage Landscape in Homo sapiens

Although the genetic code is degenerate, codon selection is non-random and reflects significant functional constraints. Codon usage bias (CUB) acts as a layer of post-transcriptional regulation, influencing mRNA stability, translation kinetics, and co-translational protein folding. While CUB is well-characterized in unicellular organisms, its regulatory scope and functional consequences in humans remain complex and less defined. Our study offers a comprehensive evaluation of human codon usage. We report that genes exhibiting the strongest codon bias are enriched in high-stoichiometry biological processes, such as skin development and oxygen/carbon dioxide transport, and harbor significantly fewer synonymous variants than expected ({rho} = -0.24, p < 2.2 x 10-16). Furthermore, we find that codon optimization is spatially regulated: it is significantly more pronounced in structured protein domains compared to intrinsically disordered regions (IDRs) (Cliffs {Delta}= 0.26, p < 2.2 x 10-16). Consistent with translational selection, the most frequently used codons are supported by higher tRNA gene copy numbers ({rho} = 0.49, p < 6.4 x 10-4). Finally, by correcting for GC3 content, we reveal that the apparent correlation between ENC and adaptation indices (CAI/tAI) vanishes, allowing us to disentangle mutational pressure from translational selection. Collectively, our findings position codon usage bias as a central, evolutionarily conserved regulator of translation and protein folding in humans. Our results provide a comprehensive and integrated view of intergenic and intragenic codon usage bias in humans, reinforcing the biological relevance of synonymous codon choice in shaping translational dynamics and protein biogenesis. This provides a refined framework for interpreting synonymous variation and guiding functional genomics.

genomics↗

Integrated proteome and lipidome analyses place OCIAD1 at mitochondria-peroxisome intersection balancing lipid metabolism

OCIAD1 (Ovarian Cancer Immunoreactive Antigen Domain Containing 1) is a membrane protein largely localized to mitochondria, however, its function in health or disease is not well understood. To comprehensively characterize the molecular changes upon lack of OCIAD1, we used mass spectrometry to study the mitochondrial and cellular proteome and lipidome. We find extensive lipidome rearrangement in OCIAD1 KO cells, characterized by two main phenotypes of decreased ether phospholipids and decreased phospholipids with an odd number of carbons. The lipidomic changes suggest alterations in peroxisomal lipid metabolism. At the same time, proteins responsible for mitochondrial fatty acid {beta} oxidation are significantly increased. Together with a global loss in peroxisomal proteins and a meta-analysis of proximity labeling data, this gives a function to the previously observed partial localization of OCIAD1 to peroxisomes. We suggest a role for OCIAD1 in balancing mitochondrial and peroxisomal lipid metabolism, and a direct impact on the key enzymes FAR1 and ACBD3. Summary StatementLipidomics and proteomics of mitochondrial fractions and whole cells lacking the membrane protein OCIAD1 suggest a role as a dually localized protein balancing mitochondrial and peroxisomal lipid metabolism.

cell biology↗

Interpretable Online Network Dictionary Learning for Inferring Long-Range Chromatin Interactions

Dictionary learning (DL), implemented via matrix factorization (MF), is commonly used in computational biology to tackle ubiquitous clustering problems. The method is favored due to its conceptual simplicity and relatively low computational complexity. However, DL algorithms produce results that lack interpretability in terms of real biological data. Additionally, they are not optimized for graph-structured data and hence often fail to handle them in a scalable manner. In order to address these limitations, we propose a novel DL algorithm called online convex network dictionary learning (online cvxNDL). Unlike classical DL algorithms, online cvxNDL is implemented via MF and designed to handle extremely large datasets by virtue of its online nature. Importantly, it enables the interpretation of dictionary elements, which serve as cluster representatives, through convex combinations of real measurements. Moreover, the algorithm can be applied to data with a network structure by incorporating specialized subnetwork sampling techniques. To demonstrate the utility of our approach, we apply cvxNDL on 3D-genome RNAPII ChIA-Drop data with the goal of identifying important long-range interaction patterns (long-range dictionary elements). ChIA-Drop probes higher-order interactions, and produces data in the form of hypergraphs whose nodes represent genomic fragments. The hyperedges represent observed physical contacts. Our hypergraph model analysis has the objective of creating an interpretable dictionary of long-range interaction patterns that accurately represent global chromatin physical contact maps. Through the use of dictionary information, one can also associate the contact maps with RNA transcripts and infer cellular functions. To accomplish the task at hand, we focus on RNAPII-enriched ChIA-Drop data from Drosophila Melanogaster S2 cell lines. Our results offer two key insights. First, we demonstrate that online cvxNDL retains the accuracy of classical DL (MF) methods while simultaneously ensuring unique interpretability and scalability. Second, we identify distinct collections of proximal and distal interaction patterns involving chromatin elements shared by related processes across different chromosomes, as well as patterns unique to specific chromosomes. To associate the dictionary elements with biological properties of the corresponding chromatin regions, we employ Gene Ontology (GO) enrichment analysis and perform multiple RNA coexpression studies. Availability and ImplementationThe code and test datasets are available at:\ https://github.com/rana95vishal/chromatin_DL/ Author summaryWe introduce a novel method for dictionary learning termed online convex Network Dictionary Learning (online cvxNDL). The method operates in an online manner and utilizes representative subnetworks of a network dataset as dictionary elements. A key feature of online cvxNDL is its ability to work with graph-structured data and generate dictionary elements that represent convex combinations of real data points, thus ensuring interpretability. Online cvxNDL is used to investigate long-range chromatin interactions in S2 cell lines of Drosophila Melanogaster obtained through RNAPII ChIA-Drop measurements represented as hypergraphs. The results show that dictionary elements can accurately and efficiently reconstruct the original interactions present in the data, even when subjected to convexity constraints. To shed light on the biological relevance of the identified dictionaries, we perform Gene Ontology enrichment and RNA-seq coexpression analyses. These studies uncover multiple long-range interaction patterns that are chromosome-specific. Furthermore, the findings affirm the significance of convex dictionaries in representing TADs cross-validated by imaging methods (such as 3-color FISH (fluorescence in situ hybridization)).

genomics↗

Tick hemocytes have pleiotropic roles in microbial infection and arthropod fitness

Uncovering the complexity of systems in non-model organisms is critical for understanding arthropod immunology. Prior efforts have mostly focused on Dipteran insects, which only account for a subset of existing arthropod species in nature. Here, we describe immune cells or hemocytes from the clinically relevant tick Ixodes scapularis using bulk and single cell RNA sequencing combined with depletion via clodronate liposomes, RNA interference, Clustered Regularly Interspaced Short Palindromic Repeats activation (CRISPRa) and RNA-fluorescence in situ hybridization (FISH). We observe molecular alterations in hemocytes upon tick infestation of mammals and infection with either the Lyme disease spirochete Borrelia burgdorferi or the rickettsial agent Anaplasma phagocytophilum. We predict distinct hemocyte lineages and reveal clusters exhibiting defined signatures for immunity, metabolism, and proliferation during hematophagy. Furthermore, we perform a mechanistic characterization of two I. scapularis hemocyte markers: hemocytin and astakine. Depletion of phagocytic hemocytes affects hemocytin and astakine levels, which impacts blood feeding and molting behavior of ticks. Hemocytin specifically affects the c-Jun N-terminal kinase (JNK) signaling pathway, whereas astakine alters hemocyte proliferation in I. scapularis. Altogether, we uncover the heterogeneity and pleiotropic roles of hemocytes in ticks and provide a valuable resource for comparative biology in arthropods.

immunology↗

Wet Adhesive Hydrogels to Correct Malacic Trachea (Tracheomalacia): A Proof of Concept

Tracheomalacia (TM) is a condition in which the anterior part of the trachea consisting of cartilage and/or the posterior part consisting muscle are too soft to ensure its mechanical support. This situation may result in an excessive and potentially lethal collapse of the airway in the newborns. Current treatment techniques include tracheal reconstruction, tracheoplasty, endo- and extraluminal stents, but are all facing important limitations. To reduce the shortcomings of actual TM treatments, this work proposes a new strategy by wrapping an adhesive hydrogel patch extraluminally around a malacic trachea. To validate this approach, first a numerical model revealed that a hydrogel patch with sufficient mechanical and adhesion strength can potentially preserve the tracheas physiological shape. Accordingly, a new hydrogel formulation was synthesized employing the hydroxyethyl acrylamide (HEAam) and polyethylene glycol methacrylate (PEGDMA) as main polymer network and crosslinker, respectively. These hydrogels provide excellent adhesion on wet tracheal surfaces, thanks to a two-step photo-polymerization approach. Ex vivo experiments revealed that the developed adhesive hydrogel patches can restrain the collapsing of malacic trachea under applied negative pressure. This study, to be confirmed by in vivo studies, is open to the possibility of a new treatment in the difficult clinical situation of tracheomalacia in newborns.

bioengineering↗

A machine learning model for screening of body fluid cytology smears

IntroductionBody fluid cytology is one of the commonest investigations performed in indoor patients, both for diagnosis of suspected carcinoma as well as staging of known carcinoma. Carcinoma is diagnosed in body fluids by the pathologist through microscopic examination and searching for malignant epithelial cell clusters. The process of screening body fluid smears is a time consuming and error prone process. AimWe have attempted to construct a machine learning model which can screen body fluid cytology smears for malignant cells. Materials and methodsMGG stained Ascitic / pleural fluid cytology smears were included from 21 cases (14 malignant, 07 benign) in this study. A total of 693 microphotographs were taken at 40x magnification at the same illumination and after correction of white balance. A Magnus Microphotography system was used for photography. The images were split into the training set (195 images), test set (120 images) and validation set (378 images). A machine learning model, a convolutional neural network, was developed in the Python programming language using the Keras deep learning library. The model was trained with the images of the training set. After completion of training, the model was evaluated on the test set of images. ResultsEvaluation of the model on the test set produced a sensitivity of 97.87%, specificity 85.26%, PPV 95.18%, NPV 93.10% In 06 images, the model has failed to detect singly scattered malignant cells/ clusters. 14 (3.7%) false positives was reported by the model. The machine learning model shows potential utility as a screening tool. However, it needs improvement in detecting singly scattered malignant cells and filtering inflammatory infiltrate.

pathology↗