The morphogenesis and cellular interactions in developing retina are incompletely characterized. The full understanding needs a precise mapping of the gene expression with a single-cell spatial resolution. Here, we present a spatial transcriptomic (ST) resource for the developing human retina at six developmental stages. Combining the spatial and single-cell transcriptomic data enables characterization of the cell-type-specific expression profiles at distinct anatomical regions at each developmental stage, highlighting the spatiotemporal dynamics of cellular composition during retinal development. All the ST spots are catalogued into consensus spatial domains, which are further associated to their specific expression signatures and biological functions associated with neuron and eye development. We prioritize a set of critical regulatory genes for the transitions of spatial domains during retinal development. Differentially expressed genes from different spatial domains are associated with distinct retinal diseases, indicating the biological relevance and clinical significance of the spatially defined gene expression. Finally, we reconstruct the spatial cellular communication networks, and highlight critical ligand-receptor interactions during retinal development. Overall, our study reports the spatiotemporal dynamics of gene expression and cellular profiles during retinal development, and provides a rich resource for the future studies on retinogenesis.
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http://dx.doi.org/10.1038/s41467-025-57625-9 | DOI Listing |
Ophthalmic Genet
March 2025
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, Bethesda, Virginia, USA.
The development of the neural retina requires a complex, spatiotemporally regulated network of gene expression. Here we review the role of the cone rod homeobox () transcription factor in specification and differentiation of retinal photoreceptors and its function in inherited retinal diseases such as cone-rod dystrophy (CoRD), dominant retinitis pigmentosa (RP), and Leber's congenital amaurosis (LCA). We delineate the findings of animal models and, more recently, human retinal organoids in elucidating molecular mechanisms of CRX activity and the pathogenesis of inherited photoreceptor degenerations.
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March 2025
Hospices Civils de Lyon, Hôpital Louis Pradel, service de Psychiatrie de liaison, F-69000 Lyon, France.
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View Article and Find Full Text PDFAsia Pac J Ophthalmol (Phila)
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Retina Division, Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
The growing environmental impact from healthcare sector necessitates the adoption of sustainable strategies to reuse, recycle, reduce waste, lower carbon emissions, etc. In ophthalmology, surgical waste poses a significant environmental challenge, particularly due to the high volume of surgeries, along with single-use instruments, packaging materials and disposable surgical supplies. Examples of practical strategies to reduce surgical waste include adopting reusable surgical instruments when safe and feasible, minimizing unnecessary packaging and optimizing operating room protocols, e.
View Article and Find Full Text PDFBiomed Pharmacother
March 2025
Group of Pathophysiology and Therapies for Vision Disorders, Príncipe Felipe Research Center (CIPF), Eduardo Primo Yúfera 3, Valencia 46012, Spain; Joint Research Unit on Rare Diseases CIPF-Health Research Institute Hospital La Fe (IIS-La Fe), Valencia 46026, Spain; Biomedical Research Networking Center in Rare Diseases (CIBER-ER), Institute of Health Carlos III, Monforte de Lemos, 3-5. Pabellón 11, Madrid 28029, Spain; Catholic University of Valencia (UCV), Faculty of Health Sciences, Quevedo, 2, Valencia 46001, Spain. Electronic address:
Retinitis pigmentosa is a genetically heterogeneous retinal degeneration process. There is hardly any treatment available. It is associated with extensive chronic inflammation and the release of proinflammatory cytokines such as TNFα.
View Article and Find Full Text PDFJ Immunol
January 2025
Key Laboratory of Breeding Biotechnology and Sustainable Aquaculture, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan, P. R. China.
The von Hippel-Lindau (VHL) tumor suppressor gene VHL is a classic tumor suppressor that has been identified in family members with clear cell renal cell carcinomas, central nervous system and retinal hemangioblastomas, phaeochromocytomas, and pancreatic neuroendocrine tumors. The well-defined function of VHL is to mediate proteasomal degradation of hydroxylated hypoxia-inducible factor α proteins, resulting in the downregulation of hypoxia-responsive gene expression. Previously, we reported that VHL inhibits antiviral signaling by targeting mitochondrial antiviral signaling protein (MAVS) for proteasomal degradation.
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