Serra Linda, Nordin Anna, Jonasson Mattias, Marenco Carolina, Rovelli Guido, Diebels Annika, Gullo Francesca, Ottolenghi Sergio, Zambelli Federico, Studer Michèle, Pavesi Giulio, Cantù Claudio, Nicolis Silvia K, Mercurio Sara
Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.
Wallenberg Centre for Molecular Medicine, Linköping University, SE-581 83 Linköping, Sweden.
Biol Open. 2025 Aug 15;14(8). doi: 10.1242/bio.062014. Epub 2025 Aug 1.
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.
丘脑背外侧膝状核(dLGN)通过视神经接收来自视网膜的视觉输入,并投射到皮质视觉区域,在该区域对来自眼睛的信号进行精细处理。基于小鼠实验和导致视力缺陷的患者突变,转录因子SOX2和NR2F1直接参与dLGN神经元的分化。然而,它们是否相互调节或控制共同靶点仍不清楚。通过对丘脑特异性Sox2和Nr2f1小鼠突变体的新生dLGN进行RNA测序分析,我们发现失调基因存在显著重叠。其中,编码一种沿丘脑-皮质轴突运输的细胞因子的Vgf在两个突变体中均被强烈下调。通过CUT&RUN证实了SOX2与其中一些基因的直接结合,该方法确定了dLGN特有的SOX2染色质结合模式。总的来说,我们对SOX2和NR2F1共同调控基因的遗传和分子分析有助于我们理解驱动丘脑神经元分化和连接的基因调控网络,以及这些基因的突变所导致的视力损害。