bioRxiv Science⌕ Search

Biology subjects

van den Broek, B.

Publications and source records attributed to van den Broek, B..

9 recordsLinked to original sources

Beyond Static Screens: A High-Throughput Pooled Imaging CRISPR Platform for Dynamic Phenotype Discovery

Genetic screens are powerful tools for linking gene perturbations to cellular phenotypes, yet most pooled imaging approaches rely on static endpoint measurements. Here, we extend optical pooled screening to dynamic signaling phenotypes by combining time-lapse Forster resonance energy transfer-fluorescence lifetime imaging microscopy (FRET-FLIM) with optical enrichment and downstream genotyping. To enable high-throughput live-cell screening of dynamic phenotypes, we optimized and benchmarked all major steps in the pipeline. We developed FAST-HIPPOS, a Fiji-based automated analysis pipeline that rapidly segments hundreds of thousands of cells, extracts single-cell lifetime time traces, and identifies phenotypic hits in minutes for targeted photoactivation. We further established a robust phototagging strategy using the photoactivatable dye PA-JaneliaFluor646, providing bright, cloning-free labeling across diverse cell types. Benchmarking further demonstrated high sorting fidelity with low false-positive rates and efficient recovery of guide RNAs from as few as 200 sorted cells with minimal PCR bias. Applying this platform to cAMP signaling in HeLa cells using a custom CRISPR library recovered the expected primary regulators of {beta}-adrenergic signaling--ADRB2, GNAS, and ADCY6--with no gene-level false positives. Together, these optimizations establish a robust general framework for screening dynamic phenotypes that is easily adaptable to other live-cell readouts beyond FRET-FLIM and cAMP.

cell biology↗

Histone methyltransferase DOT1L maintains identity and restricts cytotoxic potential of CD8 T cells

The histone methyltransferase DOT1L is emerging as a central epigenetic regulator in immune cells. Loss of DOT1L during development of CD8 T cells in vivo leads to gain of memory-features but has also been reported to compromise CD8 T cell viability and activity. Here, we determined the cell-intrinsic role of DOT1L in mature mouse CD8 T cells. After conditional deletion of Dot1L in vitro, CD8 T cells retained in vivo proliferative capacity and anti-tumor reactivity. Moreover, Dot1L knock-out CD8 T cells showed increased antigen-specific cytotoxicity towards tumor cells in vitro. Mechanistically, loss of DOT1L resulted in an altered cell-identity program with loss of T-cell and gain of NK-cell features. These transcriptional changes were mediated by loss of DOT1L methyltransferase activity in a dose-dependent manner. Our findings show that ablation of DOT1L activity in mature CD8 T cells is well-tolerated and rewires their cell identity towards the NK-cell lineage, concomitantly enhancing intrinsic cytotoxic capacity. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=143 SRC="FIGDIR/small/633937v1_ufig1.gif" ALT="Figure 1"> View larger version (45K): org.highwire.dtl.DTLVardef@1641c55org.highwire.dtl.DTLVardef@1803510org.highwire.dtl.DTLVardef@1bedceorg.highwire.dtl.DTLVardef@199a6d5_HPS_FORMAT_FIGEXP M_FIG C_FIG HighlightsO_LIDifferentiation and identity of cytotoxic T cells depend on the methyltransferase DOT1L C_LIO_LIDOT1L intrinsically limits the cytotoxic activity of mature CD8 T cells C_LIO_LIDOT1L prohibits the acquisition of NK cell features in CD8 T cells C_LIO_LIDOT1L maintains CD8 T cell identity through its catalytic activity in a dose-dependent manner C_LI

immunology↗

Radical differences between two FLIM microscopes affect interpretation of cell signaling dynamics

Emerging evidence suggests that cell signaling outcomes depend not only on the signal strength but also on its temporal progression. Our lab employs Fluorescence Lifetime Imaging of Resonance Energy Transfer (FLIM/FRET) biosensors to study intracellular signaling dynamics. We studied activation of {beta}1 receptors by Isoproterenol, which triggers cAMP signaling via the G protein Gs, using two different FLIM microscopes: a widefield frequency domain FLIM (fdFLIM) setup and a fast confocal Time Correlated Single Photon Counting (TCSPC) setup. When comparing results from each FLIM setup, unexpectedly we obtained distinctively different cAMP kinetics: fdFLIM recording of cAMP in HeLa and Cos7 cells yielded transient responses, reminiscent of rapid receptor desensitization, while TCSPC recordings exhibited sustained responses lasting over 30 minutes. We initially suspected phototoxicity due to the intense light locally in the laser focus spot in confocal microscopy to interfere with normal termination of signal transduction and set out to map photosensitive steps in the signaling cascade in detail. We find no evidence for light-sensitivity in either generation or breakdown of cAMP, but rather, our findings show that the kinetic differences are due to selective degradation of {beta}1 agonists on the fdFLIM setup. Agonist degradation appeared due to the commercial FluoroBrite medium, even though this has been specifically advertised to lower phototoxicity and reduce autofluorescence. Mass spectrometry identified Folic acid, an undisclosed constituent of FluoroBrite, as the culprit leading to artifacts in fdFLIM measurements. In all, our study underscores the impact of subtle phototoxicity effects on experimental outcome, and it shows that in this case confocal TCSPC provides the more reliable data needed to study response kinetics. This work also emphasizes the it is crucial that scientific vendors fully disclose chemical formulations.

cell biology↗

Multi-omics analysis reveals distinct non-reversion mechanisms of PARPi resistance in BRCA1- versus BRCA2-deficient mammary tumors

BRCA1 and BRCA2 both function in DNA double-strand break repair by homologous recombination (HR). Due to their HR-defect, BRCA1/2-deficient cancers are sensitive to poly(ADP-ribose) polymerase inhibitors (PARPi) but they eventually acquire resistance. Preclinical studies yielded several PARPi resistance mechanisms that do not involve BRCA1/2 reactivation, but their relevance in the clinic remains elusive. To investigate which BRCA1/2-independent mechanisms drive spontaneous resistance in vivo, we combined molecular profiling with functional analysis of the HR status of matched PARPi-naive and PARPi-resistant mouse mammary tumors harboring large intragenic deletions that prevent functional restoration of BRCA1/2. We observed restoration of HR in 64% of PARPi-resistant BRCA1-deficient tumors but none in the PARPi-resistant BRCA2-deficient tumors. Moreover, we found that 53BP1 loss is the prevalent resistance mechanism in HR-proficient BRCA1-deficient tumors, whereas resistance in BRCA2-deficient tumors is mainly induced by the loss of PARG. Our combined multi-omics analysis catalogued additional genes and pathways potentially involved in modulating PARPi response.

cancer biology↗

MND1 enables repair of two-ended DNA double-strand breaks

Faithful and timely repair of DNA double-strand breaks (DSBs) is fundamental for the maintenance of genomic integrity. Here, we demonstrate that the meiotic recombination co-factor MND1 facilitates the repair of DSBs in somatic cells. We show that MND1 localizes to DSBs, where it stimulates DNA repair through homologous recombination (HR). Importantly, MND1 is not involved in the response to replication-associated DSBs, implying that it is dispensable for HR-mediated repair of one-ended DSBs. Instead, we find that MND1 specifically plays a role in the response to two-ended DSBs that are induced by IR or various chemotherapeutic drugs, specifically in G2. MND1 localization to DSBs is dependent on resection of the DNA ends, and seemingly occurs through direct binding of MND1 to RAD51-coated ssDNA. Importantly, the lack of MND1-driven HR repair directly potentiates the toxicity of IR-induced damage, which could open new possibilities for therapeutic intervention, specifically in HR-proficient tumors.

cell biology↗

Dynamic FRET-FLIM based screens of signal transduction pathways: a feasibility study

Fluorescence Lifetime Imaging (FLIM) is an intrinsically quantitative method to screen for protein-protein interactions and frequently used to record the outcome of signal transduction events. With new highly sensitive and photon efficient FLIM instrumentation, the technique also becomes attractive to screen, with high temporal resolution, for fast changes in Forster Resonance Energy Transfer (FRET), such as those occurring upon activation of cell signaling. We studied the effects of siRNA-mediated individual knockdown of an extensive set of 22 different phosphodiesterases (PDEs) on baseline levels and agonist-induced changes of the second messenger cAMP. Using HeLa cells stably expressing our FRET-FLIM sensor we imaged many hundreds of cells at 5 second intervals for each condition. Following segmentation of cells by the deep-learning implementation Cellpose, FLIM time traces were calculated and fitted for dynamic analysis with custom-made Python scripts. Taking advantage of the quantitative FLIM data, we found very limited effects of PDE knockdown on baseline and agonist-induced peak levels of cAMP. However, cAMP breakdown in the decay phase was significantly slower when PDE3A and, to a lesser amount, PDE10A were knocked down, identifying these isoforms as dominant in HeLa cells. In conclusion, we present a robust platform that combines photon-efficient FLIM instrumentation with systematic gene knockdown and an automated open-source analysis pipeline. Our quantitative platform provides detailed kinetic analysis of cellular signals in individual cells with unprecedented throughput.

cell biology↗

Glucocorticoids regulate cancer cell dormancy

The glucocorticoid receptor directly regulates thousands of genes across the human genome in a cell-type specific manner, governing various aspects of homeostasis. The influence of the glucocorticoid receptor is also seen in various pathologies, including cancer, where it has been linked to tumorigenesis, metastasis, apoptosis resistance, and therapy bypass. Nonetheless, the direct genetic and molecular underpinnings of glucocorticoid action in cancer remain elusive. Here, we dissected the glucocorticoid receptor signalling axis and uncovered the mechanism of glucocorticoid-mediated cancer cell dormancy. Upon glucocorticoid receptor activation cancer cells undergo quiescence, subserved by cell cycle arrest through CDKN1C and reprogramming of signalling orchestrated via FOXO1/IRS2. Strikingly, co-expression of these three genes, directly regulated by glucocorticoid-induced chromatin looping, correlates with a benign molecular phenotype across human cancers, whereas triple loss is associated with increased expression of proliferation/aggressiveness markers. Finally, we show that the glucocorticoid receptor signalling axis is inactivated by alterations of either the chromatin remodelling complex or TP53 in vitro and in vivo. Our results indicate that the activation of the glucocorticoid receptor leads to cancer cell dormancy, which has several implications in terms of glucocorticoid use in cancer therapy.

cancer biology↗

DNA end-resection in highly accessible chromatin produces a toxic break

The authors have withdrawn their manuscript whilst they perform additional experiments to test some of their conclusions further. Despite repetitive attempts to reproduce the data shown in figure 2I, we have failed to obtain convincing evidence that chemical inhibition of Mre11 can improve the fitness of cells exposed to the so-called "halt" breaks. Upon re-analysis of the raw data used to compose figure 2I, we noted inconsistencies in the inclusion of datapoints, for which a satisfactory motivation was not apparent. In order to reproduce the experiments with the DNA-PK inhibitor, we ordered new batches of this compound, but noticed that the IC50 was significantly lower than that of the earlier batch (as determined in suppl. fig.1). While this might be due to a difference in batches, the IC50 of the newer batches was more comparable to the IC50 of this compound described for other cell lines. This sheds doubts on the quality of the batch used for the experiments shown in our manuscript, and we no longer wish to draw any conclusions based on these experiments. The authors hope that future experiments can resolve if open chromatin does indeed produce a potentially more toxic DNA break. The authors do not wish this work to be cited as reference for the project. If you have any questions, please contact the corresponding author.

cell biology↗

Sequence-dependent trafficking of GDE2, a GPI-specific phospholipase promoting neuronal differentiation

GDE2 is a six-transmembrane glycerophosphodiesterase with phospholipase D-like activity that cleaves select glycosylphosphatidylinositol (GPI)-anchored proteins and thereby influences biological signaling cascades. GDE2 promotes neuronal differentiation cell-autonomously through glypican cleavage and is a prognostic marker in neuroblastoma, while GDE2 deficiency causes progressive neurodegeneration in mice and developmental defects in zebrafish. However, the regulation of GDE2 remains unclear. Here we show that in undifferentiated neuronal cells, GDE2 undergoes constitutive internalization and traffics back along both fast and slow recycling routes, while a small percentage is sorted to late endosomes. GDE2 trafficking is dictated by distinctive C-terminal tail sequences that determine secretion, endocytosis and recycling preference, respectively, and thereby regulate GDE2 function both positively and negatively. Our study reveals the sequence determinants of GDE2 trafficking and surface localization, and provides insight into the control of GPI-anchored protein activities with potential implications for nervous system disorders associated with impaired trafficking and beyond.

neuroscience↗