Linda Serra, Anna Nordin, Mattias Jonasson, Carolina Marenco, Guido Rovelli, Annika Diebels, Francesca Gullo, Sergio Ottolenghi, Federico Zambelli, Michèle Studer, Giulio Pavesi, Claudio Cantù, Silvia K Nicolis, Sara Mercurio
{"title":"SOX2和NR2F1协调出生后早期视丘脑的基因表达程序。","authors":"Linda Serra, Anna Nordin, Mattias Jonasson, Carolina Marenco, Guido Rovelli, Annika Diebels, Francesca Gullo, Sergio Ottolenghi, Federico Zambelli, Michèle Studer, Giulio Pavesi, Claudio Cantù, Silvia K Nicolis, Sara Mercurio","doi":"10.1242/bio.062014","DOIUrl":null,"url":null,"abstract":"<p><p>The thalamic dorsolateral geniculate nucleus (dLGN) receives visual input from the retina via the optic nerve, and projects to the cortical visual area, where eye-derived signals are elaborated. The transcription factors SOX2 and NR2F1 are directly involved in the differentiation of dLGN neurons, based on mouse work and patient mutations leading to vision defects. However, whether they regulate each other, or control common targets is still unclear. By RNA-seq analysis of neonatal dLGN from thalamo-specific Sox2 and Nr2f1 mouse mutants, we found a striking overlap of deregulated genes. Among them, Vgf, encoding a cytokine transported along thalamic-cortical axons is strongly downregulated in both mutants. Direct SOX2 binding to some of these genes was confirmed by CUT&RUN, which identified a SOX2 chromatin-binding pattern characteristic of the dLGN. Collectively, our genetic and molecular analyses on the SOX2 and NR2F1-coregulated genes contribute to our understanding of the gene regulatory network driving the differentiation and connectivity of thalamic neurons, and the vision impairments caused by mutations in these genes.</p>","PeriodicalId":9216,"journal":{"name":"Biology Open","volume":" ","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352279/pdf/","citationCount":"0","resultStr":"{\"title\":\"SOX2 and NR2F1 coordinate the gene expression program of the early postnatal visual thalamus.\",\"authors\":\"Linda Serra, Anna Nordin, Mattias Jonasson, Carolina Marenco, Guido Rovelli, Annika Diebels, Francesca Gullo, Sergio Ottolenghi, Federico Zambelli, Michèle Studer, Giulio Pavesi, Claudio Cantù, Silvia K Nicolis, Sara Mercurio\",\"doi\":\"10.1242/bio.062014\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The thalamic dorsolateral geniculate nucleus (dLGN) receives visual input from the retina via the optic nerve, and projects to the cortical visual area, where eye-derived signals are elaborated. The transcription factors SOX2 and NR2F1 are directly involved in the differentiation of dLGN neurons, based on mouse work and patient mutations leading to vision defects. However, whether they regulate each other, or control common targets is still unclear. By RNA-seq analysis of neonatal dLGN from thalamo-specific Sox2 and Nr2f1 mouse mutants, we found a striking overlap of deregulated genes. Among them, Vgf, encoding a cytokine transported along thalamic-cortical axons is strongly downregulated in both mutants. Direct SOX2 binding to some of these genes was confirmed by CUT&RUN, which identified a SOX2 chromatin-binding pattern characteristic of the dLGN. Collectively, our genetic and molecular analyses on the SOX2 and NR2F1-coregulated genes contribute to our understanding of the gene regulatory network driving the differentiation and connectivity of thalamic neurons, and the vision impairments caused by mutations in these genes.</p>\",\"PeriodicalId\":9216,\"journal\":{\"name\":\"Biology Open\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2025-08-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352279/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biology Open\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1242/bio.062014\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/8/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biology Open","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1242/bio.062014","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/1 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"BIOLOGY","Score":null,"Total":0}
SOX2 and NR2F1 coordinate the gene expression program of the early postnatal visual thalamus.
The thalamic dorsolateral geniculate nucleus (dLGN) receives visual input from the retina via the optic nerve, and projects to the cortical visual area, where eye-derived signals are elaborated. The transcription factors SOX2 and NR2F1 are directly involved in the differentiation of dLGN neurons, based on mouse work and patient mutations leading to vision defects. However, whether they regulate each other, or control common targets is still unclear. By RNA-seq analysis of neonatal dLGN from thalamo-specific Sox2 and Nr2f1 mouse mutants, we found a striking overlap of deregulated genes. Among them, Vgf, encoding a cytokine transported along thalamic-cortical axons is strongly downregulated in both mutants. Direct SOX2 binding to some of these genes was confirmed by CUT&RUN, which identified a SOX2 chromatin-binding pattern characteristic of the dLGN. Collectively, our genetic and molecular analyses on the SOX2 and NR2F1-coregulated genes contribute to our understanding of the gene regulatory network driving the differentiation and connectivity of thalamic neurons, and the vision impairments caused by mutations in these genes.
期刊介绍:
Biology Open (BiO) is an online Open Access journal that publishes peer-reviewed original research across all aspects of the biological sciences. BiO aims to provide rapid publication for scientifically sound observations and valid conclusions, without a requirement for perceived impact.