Figure 1

Identification of candidate CDKN1C enhancer regions through integration of data of chromosome imbalances, chromatin features and sequence conservation at 11p15.5. The image shows an UCSC Genome Browser screen shot including the most relevant information used to locate the putative enhancers. Three deletions associated with BWS/SRS or severe IUGR^{1, 2, 10, 11} and two duplications associated with BWS^{12, 13} are indicated by red and yellow lines, respectively. Dots indicate undefined borders of duplications/deletions. The exons of the Kcnq1 gene (NM_000218) are numbered.¹⁵ ICR2 in KCNQ1 intron 10 is shown as an orange box. Green boxes indicate the candidate enhancers (region 1, chr11: 2 846 000–2 849 000; region 2, chr11: 2 798 000–2 807 000; region 3, chr11: 2 552 500–2 556 500 – GRCh37/hg19, February 2009 assembly). No sequence information is available in the rat genome (rn4, November 2004) for the region corresponding to human chr11: 2 622 000–2 788 000. KCDN, KCDNQ1DN. Note that regions 1–3 correspond to evolutionary conserved intronic regions that are enriched in H3K27Ac, H3K4Me1, DNase hypersensitive sites and transcription factors binding as reported by ENCODE (http://genome.ucsc.edu Chr11: 2 450 000–2 920 000; GRCh37/hg19, February 2009 assembly).