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van den Ende, J.

Publications and source records attributed to van den Ende, J..

2 recordsLinked to original sources

Development of a live-cell imaging assay to elucidate spatiotemporal dynamics of extracellular vesicle fusion with target cells

Cells communicate via extracellular vesicles (EVs) containing functional RNAs, proteins and lipids. Knowledge on the fate of internalized EVs, especially their capacity to fuse with target cell membranes and deliver luminal cargo, is limited. Currently available EV-cargo delivery assays are indirect and thus unlikely to uncover molecular players and conditions that specifically control the EV-fusion step. Here, we present a novel live-cell imaging assay for detection of EV-binding, -uptake, and -fusion in time and space. We employed the SunTag system for exceptional signal amplification. EV-donor cells were engineered to tag the luminal EV-membrane with a fluorescent label coupled to SunTag peptides. Recipient cells express fluorescent single-chain anti-SunTag antibody (STAb), which binds EV-enclosed SunTag upon its cytosolic exposure. Using SunTagged EVs carrying fusogen VSV-G, we visualize the EV-fusion process, quantify fusion kinetics and efficiency, and determine subcellular localization of fusion events. We term this methodology EV-FUSIM (Extracellular Vesicle Fusion Spatiotemporal Imaging Method). In the future, this technology can support identification of fusogenic EV-subsets, as well as molecular players and drugs that modulate EV-fusion, without confounding effects of post-fusion processes. This will extend knowledge on EV-biology and can aid in the engineering of EVs that efficiently deliver intraluminal therapeutic payloads.

cell biology↗

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

North Carolina macular dystrophy (NCMD) is a rare autosomal dominant disease affecting macular development. The disease is caused by non-coding single nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct chromosomal loci, overlapping DNase I hypersensitive sites near either PRDM13 or IRX1. To unravel the mechanisms by which these variants cause disease, we first established a genome-wide multi-omics retinal database, RegRet. Integration of UMI-4C profiles we generated on adult human retina then allowed fine-mapping of the interactions of the PRDM13 and IRX1 gene promoters, and the identification of eighteen candidate cis-regulatory elements (cCREs), the activity of which was investigated by luciferase and Xenopus enhancer assays. Next, luciferase assays showed that the non-coding SNVs located in the two hotspot regions of PRDM13 affect cCRE activity, including two novel NCMD-associated non-coding SNVs that we identified. Interestingly, the cCRE containing one of these SNVs was shown to interact with the PRDM13 promoter, demonstrated in vivo activity in Xenopus, and is active at the developmental stage when progenitor cells of the central retina exit mitosis, putting forward this region as a PRDM13 enhancer. Finally, mining of single-cell transcriptional data of embryonic and adult retina revealed the highest expression of PRDM13 and IRX1 when amacrine cells start to synapse with retinal ganglion cells, supporting the hypothesis that altered PRDM13 or IRX1 expression impairs interactions between these cells during retinogenesis. Overall, this study gained insight into the cis-regulatory mechanisms of NCMD and supports that this condition is a retinal enhanceropathy. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=149 SRC="FIGDIR/small/481329v2_ufig1.gif" ALT="Figure 1"> View larger version (31K): org.highwire.dtl.DTLVardef@4a85e3org.highwire.dtl.DTLVardef@9bfe55org.highwire.dtl.DTLVardef@156a9d8org.highwire.dtl.DTLVardef@a8cb92_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗