Fig. 6

Disruption of CTCF, USF1 and MAX1 binding by schizophrenia risk single-nucleotide polymorphisms (SNPs; rs7012106 and rs2270363). a SNP rs7012106 is located in CTCF binding motif and disrupts occupied CTCF binding site. b–d Reporter gene assays showed that the construct containing G allele exhibited significant higher luciferase activity compared with the construct containing the C allele in all three tested cell lines (b–d). e Disruption of USF1 and MAX1 binding by SNP rs2270363. SNP rs2270363 is located in binding motif of USF1 and MAX1 and disrupts occupied USF1 and MAX1 binding site. Genomic region (1 kb) surrounding SNP rs2270363 is shown with three featured visualization tracks, including DNase-Seq signal (light blue), chromatin immunoprecipitation and sequencing (ChIP-Seq) signal (green) for the selected transcription factor (TF) and histone modifications (purple). b–d Reporter gene assay showed that the construct containing A allele (of rs2270363) exhibited significant higher luciferase activity compared with the construct containing the G allele in all three tested cell lines (f–h). Data represent mean ± SD; n = 8 for each group in b, f (HEK293 cells) and g (SK-N-SH cells); n = 16 for each group in c (SK-N-SH cells) d, h (SH-SY5Y cells). **P < 0.01, ***P < 0.001, two-tailed Student’s t-test. Source data are provided as a Source Data file