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Hoeckendorf, B.

Publications and source records attributed to Hoeckendorf, B..

4 recordsLinked to original sources

Virtual phenotypic screening discovers novel scaffolds inhibiting the PI3K/mTOR pathway

Phenotypic drug discovery has yielded many first-in-class small-molecule drugs by discovering modulators of disease phenotypes in physiologically relevant cellular systems. However, high-content phenotypic assays lack the ultra-high-throughput scalability of target-based screens. Recent advances in virtual screening present an opportunity to address this bottleneck, but have been limited to simple phenotypes like viability, restricted to small repurposing libraries, or lack in-depth biological validation. Here, we present PhenoCompass, a multimodal co-embedding model that aligns compound structures and high-content phenotypic imaging to enable virtual phenotypic screening over billion-compound libraries. Following training on the Joint Undertaking in Morphology dataset with more than 100,000 Cell Painting compound profiles, retrospective validation with historical biochemical high-throughput screening data demonstrates that PhenoCompass ranks compounds according to their biochemical target engagement. Leveraging PhenoCompass, we performed a prospective screen of 3.8 billion Enamine REAL compounds for inhibitors of PI3K/mTOR pathway, a critical signaling cascade whose aberrant activation is a common tumor driver. This search identified 11 novel compounds with pathway-consistent Cell Painting readout and diverse scaffolds, a 54-fold enrichment over the training set. Orthogonal validation experiments using a FOXO3A reporter assay and direct kinase inhibition confirmed seven structurally novel inhibitors with distinct mechanisms of action. These results highlight the convergence of diverse molecular target profiles onto a shared morphological pathway signature and establish PhenoCompass as a robust framework for high-content phenotypic virtual screening.

bioinformatics↗

BRD4 recruitment desilences transcription without erasure or depletion of repressive chromatin

How genes are desilenced within mesoscale repressive chromatin is a crucial yet poorly understood phenomenon. Prevailing models posit that methylation of lysine-9 of histone H3 (H3K9me3) engages heterochromatin protein 1 (HP1) to drive chromatin compaction and transcriptional silencing. The erasure of this repressive mark and its replacement with acetyl/acyl groups recruits positive factors such as BRD4/BET to elicit gene transcription. We report that in Friedreichs ataxia, a synthetic gene regulator (SynGR1) drives transcription across repressive chromatin without removal or replacement of H3K9me3 or HP1. By selectively recruiting BRD4/BET into repressive GAA-repeats in frataxin (FXN), SynGR1 creates a paradoxical state where gene transcription and repressive chromatin co-exist. Contrary to convention, we find that BRD4 readily partitions into phase separated HP1 condensates in vitro and into HP1 puncta in patient-derived cells, thus presenting a mechanistic explanation for desilencing transcription without the dispersal of mesoscale repressive chromatin. Epigenetic drugs that gate sequential steps in transcription, synergistically stimulate FXN expression while concomitantly increasing, rather than eliminating, repressive H3K9me3 and HP1 levels. More broadly, this study highlights the dynamic nature of repressive chromatin and the context-dependence of epigenetic marks in regulating gene expression.

cell biology↗

Multi-ContrastiveVAE disentangles perturbation effects in single cell images from optical pooled screens

Optical pooled screens (OPS) enable comprehensive and cost-effective interrogation of gene function by measuring microscopy images of millions of cells across thousands of perturbations. However, the analysis of OPS data still mainly relies on hand-crafted features, even though these are difficult to deploy across complex data sets. This is because most unsupervised feature extraction methods based on neural networks (such as auto-encoders) have difficulty isolating the effect of perturbations from the natural variations across cells and experimental batches. Here, we propose a contrastive analysis framework that can more effectively disentangle the phenotypes caused by perturbation from natural cell-cell heterogeneity present in an unperturbed cell population. We demonstrate this approach by analyzing a large data set of over 30 million cells imaged across more than 5, 000 genetic perturbations, showing that our method significantly outperforms traditional approaches in generating biologically-informative embeddings and mitigating technical artifacts. Furthermore, the interpretable part of our model distinguishes perturbations that generate novel phenotypes from the ones that only shift the distribution of existing phenotypes. Our approach can be readily applied to other small-molecule and genetic perturbation data sets with highly multiplexed images, enhancing the efficiency and precision in identifying and interpreting perturbation-specific phenotypic patterns, paving the way for deeper insights and discoveries in OPS analysis.

bioinformatics↗

Retinal stem cells modulate proliferative parameters to coordinate post-embryonic morphogenesis in the eye of fish

A fundamental question in biology is how anatomically and functionally distinct tissues coordinate to direct growth and shape in complex organs. We address this question using as a model the eye of teleost fish, which grow while maintaining the precise shape needed for vision throughout the animals life.\n\nCombining clonal analysis in the eye of the teleost medaka (Oryzias latipes) with a computational agent based model, we find that the neural retina (NR) and retinal pigmented epithelium (RPE) differentially modulate cell divisions to coordinate their growth rates. Cell divisions in the NR are less stochastic, consistent with an upstream role as an inducer of growth in nearby tissues. Cells in the RPE display much higher stochasticity, consistent with a downstream role responding to inductive signals.\n\nOur simulation predicts that the segregation of stem- and progenitor cell domains in the retinal ciliary marginal zone niche is an emergent property, as the topology of the niche preconditions the system to undergo a spatially biased stochastic neutral drift. Clone properties in the NR support this prediction, and further suggest that NR cells control the direction of division axes to regulate organ shape and retinal cell topology.\n\nThis work highlights an as yet unappreciated mechanism for growth coordination in a complex organ, where one tissue integrates external and internal cues as a hub to synchronize growth rates in nearby tissues. In the eye of fish, proliferation parameters of neuroretinal stem cells are a minimal target node for evolution to exploit to adapt whole-organ morphogenesis in a complex vertebrate organ.

developmental biology↗