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. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324

Figure 4. Mutations in SOX2 interfere with SOX2-mediated repression of KISS1 transcription.

Figure 4

(A) Schematic of the SOX2 protein with patient mutation locations indicated. Protein mutation nomenclature follows recommendations by the Human Genome Variation Society. NLS, nuclear localization signal. (B) Western blot of KTaR-1 cells transfected with SOX2-HA WT or a mutation-harboring hSOX2 plasmid. (C) Quantification of Western blot in B. Total volume for each band normalized to remove background and displayed relative the transfection control, GFP. Actin used as a loading control. N = 3. (D and E) hKiss-luc was cotransfected with SOX2, a mutation-harboring variant of SOX2, or an empty vector (EV) into KTaR-1 or KTaV-3 cells, respectively. SOX2 protein represses expression from hKiss-luc by 79% in KTaR-1 and 84% in KTaV-3 cells. Mutant SOX2 proteins that did not repress the expression from hKiss-luc are indicated in purple in A, D, and E. Values were normalized relative to EV. N = 3–9. Data represent mean ± SEM. Data were analyzed using 1-way ANOVA with Dunnett’s multiple-comparison post hoc test if ANOVA was significant. Significance indicated by *P < 0.05, **P < 0.01, ***P < 0.001.