Fig. 1: The effect of SOBS mutation on maternal H19-ICR in mice.
a Schematic representation of the mouse Igf2-H19 domain. (top) Genomic DNA is indicated by a black line, whereas blue and red boxes indicate the imprinted genes expressed in paternal and maternal alleles, respectively. Arrows indicate the direction of transcription and expressed alleles. Black and while circles indicate methylated and unmethylated regions (Igf2-DMR1, Igf2-DMR2, H19-ICR, and H19prom), respectively. (bottom) The white box shows H19-ICR. Black, white, and gray circles demonstrate the binding sites of CTCF (CTS1-4), SOX2, and OCT4 (SOBS), respectively. Gray Xs indicate mutated SOBS. Black lines indicate amplified regions for DNA methylation analysis (R1–4). b Methylation status at maternal H19-ICR in WT and H19-ICRmSO/+ neonates. Representative results of maternal alleles are shown. Black and white circles indicate methylated and unmethylated CpGs, respectively. CpG sites included in CTS1-4 and SOBS are highlighted in blue and green, respectively. Full results are shown in Supplementary Fig. 2. c Expression levels of Igf2 and H19 in H19-ICRmSO/+ neonates. White and red bars indicate WT and H19-ICRmSO/+ tissues, respectively (WT and H19-ICRmSO/+; n = 7 and n = 7, respectively, from 3 litters). Error bars indicate standard deviation (SD). d Allelic expression of Igf2 in H19-ICRmSO/+ neonates. Representative electropherograms are shown. e, f The body and liver weights in WT and H19-ICRmSO /+ neonates at 1 dpp (WT and H19-ICRmSO/+; n = 9 and n = 9, respectively, from 3 litters). White and red dots indicate individual weights of WT and heterozygous mutants with maternally transmitted H19-ICRmSO alleles, respectively. The mean ± SD are shown in a horizontal bar and error bars, respectively. ns; not significant (unpaired two-tailed t-test).
