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FIGURE 5

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Publication: Uehara et al., 2021 - Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles
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FIGURE 5

HES1 and GFAP promoter assay in HEK293T cells. (a) Schematic representation of the human HES1 promoter‐NlucP and the human GFAP promoter‐NlucP constructs. Potential NFI‐binding sites (NNTTGGCNNNNNNCCNNN) predicted by TFBIND (http://tfbind.hgc.jp/; Tsunoda & Takagi, 1999) are shown by triangles. (b) HES1 promoter repression by NFIA. Dose‐dependent repression of human HES1 promoter by NFIA^WT was not observed in NFIA^K125E. Data are mean ± SD from triplicate experiments. **p < 0.01 by lower‐tailed Dunnett multiple comparisons test (α = 0.05). ns, not significant. (c) GFAP promoter activation by NFIA. Dose‐dependent activation of human GFAP promoter by NFIA^WT was weakened in NFIA^K125E. Data are mean ± SD from triplicate experiments. **p < 0.01 by upper‐tailed Dunnett multiple comparisons test (α = 0.05). ##p < 0.01 by unpaired t‐test. ns, not significant

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