Fig. 1

Schematic structure of insulin-like growth factor 2 (IGF2)/H19 locus on chromosome 11p15.5. Imprinting control region with seven binding sites for CTCF protein controls the function of the locus. H19 is expressed from maternal allele (above) and IGF2 from paternal allele (below). The studied region of CTCF6 nucleotide sequence is presented with bolded CpG sites. Underlined sequence presents the CTCF binding site. The rs10732516 polymorphism C/T, in which T deletes the 10th CpG site, is marked by a square