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Biology subjects

Jan, I.

Publications and source records attributed to Jan, I..

4 recordsLinked to original sources

A Framework for Benchmarking Pathway Reconstruction Algorithms

Cells coordinate diverse biological processes through interactions among thousands of molecules, but mapping these interactions comprehensively and systematically remains an open problem. Pathway reconstruction algorithms address this problem by linking molecules of interest, identified from high-throughput omics experiments, using prior knowledge encoded as background interaction networks. This process recovers intermediate molecules and interactions that were not directly measured in the experimental data but plausibly connect the observed molecules. It generates testable hypotheses about interactions that drive cell behavior and informs the choice of follow-up experiments. Many algorithms have been created over decades, each optimizing different computational objectives and relying on different assumptions. The resulting heterogeneity has made benchmarking challenging, limiting systematic comparisons. Therefore, selecting an algorithm for a given biological context remains a non-trivial and poorly informed task. This registered report presents a large-scale benchmark of pathway reconstruction algorithms, evaluating 14 algorithms across 822 datasets from four biological settings. To enable this benchmark, we introduce Signaling Pathway Reconstruction Analysis Streamliner (SPRAS), which standardizes algorithm inputs, outputs, and execution into a formal framework, enabling systematic comparison that was previously infeasible. We will assess each algorithm on reconstruction performance against gold standard pathways, algorithm similarity, and computational performance across different biological contexts. Together, these evaluations will provide quantitative evidence for understanding pathway reconstruction algorithm behavior and guiding algorithm selection.

bioinformatics↗

Mapping of CELF1-RNA interactions reveals post-transcriptional control of lens development

Precise post-transcriptional regulation of gene expression is essential for vertebrate lens development. Disruption of the gene encoding the RNA-binding protein CELF1 leads to early-onset cataract in mice. Here, using iCLIP-seq in lenses, we mapped transcriptome-wide CELF1 binding sites, revealing interactions with the 3'UTRs of key transcripts involved in lens development and pathology like Gja8, Jag1, Maf, Pax6, or Prox1. Integrated analysis with transcriptomic data and luciferase reporter assays demonstrated that binding of CELF1 protein represses its target mRNAs by destabilizing transcripts and/or inhibiting their translation. Indeed, the cataract-linked genes Maf and Gja8 are upregulated in Celf1cKO lenses. In Xenopus laevis, overexpression of maf resulted in abnormal lens structure and eye morphology, confirming the developmental relevance of CELF1-mediated repression. Our findings uncover a post-transcriptional network in which CELF1 controls lens morphogenesis by limiting the expression of critical genes at the mRNA level to achive their proper dosage.

developmental biology↗

Chromosomal Instability in Human Trophoblast Stem Cells and Placentas

The human placenta, a unique tumor-like organ, is typically thought to exhibit rare aneuploidy associated with adverse pregnancy outcomes. Discrepancies in reported aneuploidy prevalence in placenta likely stem from limitations in modeling and the resolution of detection methods. Here, we used isogenic trophoblast stem cells (TSCs) derived from both naive and primed human pluripotent stem cells (hPSCs) to reveal the spontaneous occurrence of aneuploidy, suggesting chromosomal instability (CIN) as an inherent feature of the trophoblast lineage. We identified potential pathways contributing to the occurrence and tolerance of CIN. These findings were further validated using single cell multiome data from human placentas, where we observed a high prevalence of heterogeneous aneuploidy across trophoblast cells. Despite extensive chromosomal abnormalities, TSCs maintained their proliferative and differentiation capacities, suggesting that CIN is a typical aspect of placental development. Our study challenges the traditional view of aneuploidy in the placenta and provides new insights into the role of CIN in normal placental function.

developmental biology↗

ProteinWeaver: A Webtool to Visualize Ontology-Annotated Protein Networks

Molecular interaction networks are a vital tool for studying biological systems. While many tools exist that visualize a protein or a pathway within a network, no tool provides the ability for a researcher to consider a proteins position in a network in the context of a specific biological process or pathway. We developed ProteinWeaver, a web-based tool designed to visualize and analyze non-human protein interaction networks by integrating known biological functions. ProteinWeaver provides users with an intuitive interface to situate a user-specified protein in a user-provided biological context (as a Gene Ontology term) in five model organisms. Protein-Weaver also reports the presence of physical and regulatory network motifs within the queried subnetwork and statistics about the proteins distance to the biological process or pathway within the network. These insights can help researchers generate testable hypotheses about the proteins potential role in the process or pathway under study. Two cell biology case studies demonstrate ProteinWeavers potential to generate hypotheses from the queried subnetworks. ProteinWeaver is available at https://proteinweaver.reedcompbio.org/.

systems biology↗