Fig. 1

Paternal H19/IGF2:IG-DMR deletions and ZFP57 binding. a Schematic representation of the H19/IGF2:IG-DMR. The genomic region corresponds to GRCh37/hg19 chr11:2,018,812–2,024,740 [28] on the UCSC Genome Browser. The A- and B-type repetitive modules are represented as gray boxes. Target sites for OCT4 (OTSs), SOX2 (STS), CTCF (CTSs), and ZFP57 (ZTSs) are indicated by vertical bars; motif sequences present in the forward strand are in red, those present in the reverse strand are in blue. The CTCF BRs (transcription factor ChIP-seq, ENCODE data) are indicated as green bars. The ZFP57 BRs demonstrated in HEK293T cells (GSM2466451 [21]) are indicated as brown bars. b Paternally inherited H19/IGF2:IG-DMR deletions. Deletions associated with SRS and LOM on paternal transmission [14, 22] are represented in blue; the deletion associated with normal methylation and normal phenotype on paternal transmission [11] is in black; deletions associated with BWS and GOM on maternal transmission and normal phenotype on paternal transmission [3, 4, 6, 7, 11] are in pink. Breakpoints, molecular, and phenotypic effects of all the deletions are reported in Table 1