Journal: Orphanet Journal of Rare Diseases
Article Title: A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
doi: 10.1186/s13023-025-03548-z
Figure Lengend Snippet: Cell cycle analysis and expression analysis of SOX5 target gene. A Localization of wild and mutant in 293T cells and Neuro-2a cells. Wild-type and mutant SOX5 were mainly localized in the nucleus in 293T cells and Neuro-2a cells. Confocal images of EGFP (green), DAPI nuclear staining (blue), and merged signals. B – C Flow cytometry analysis of the cell cycle in Neuro-2a cells: wild-type and mutant. The numbers of S phases in mutant SOX5 were expressed at a lower level than in the wild-type (* p < 0.05). D After transfection of Neuro-2a cells, cell proliferation was detected by CCK-8 assay. E – H The mRNA expression analysis of SOX5 target gene in 293T cells. The mRNA expression levels of ACAN , AXIN2 , SOX9 and PDGFRA were decreased compared with the wild-type (**** p < 0.0001)
Article Snippet: Human embryonic kidney (HEK) 293T cells and Neuro-2a cells, at 70% confluence, were transfected with 1 μg of the recombinant plasmids containing wild-type ( pEGFP-N1-SOX5-WT ) or mutant SOX5 c.221C > T genes ( pEGFP-N1-SOX5-MUT ), using Lipofectamine™ 3000 transfection reagent (Invitrogen, NY, USA).
Techniques: Cell Cycle Assay, Expressing, Mutagenesis, Staining, Flow Cytometry, Transfection, CCK-8 Assay