Figure 3 The Beckwith–Wiedemann syndrome locus at chromosome 11p15.5

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Figure 3 The Beckwith–Wiedemann syndrome locus at chromosome 11p15.5 Figure 3 | The Beckwith–Wiedemann syndrome locus at chromosome 11p15.5. The figure depicts the chromosome 11p15.5–11p15.4 region with the imprinted genes and control regions that are implicated in the pathophysiology of Beckwith–Wiedemann spectrum (BWSp). The BWSp locus can be divided into two functionally independent domains, the telomeric and centromeric domains. Each domain harbours its own imprinting control region that is differentially methylated on the maternal and paternal chromosomes. The insulin-like growth factor 2 (IGF2)-encoding gene (IGF2) and the gene encoding the non-translated long non-coding RNA H19 are located in the telomeric domain and are controlled by the H19/IGF2:intergenic (IG) differentially methylated region (DMR) (also known as IC1), which is methylated on the paternal chromosome. The cell cycle inhibitor gene CDKN1C and the gene encoding the regulatory long non-coding RNA KCNQ1OT1 are located in the centromeric domain and are controlled by the KCNQ1OT1:transcriptional start site (TSS) DMR (also known as IC2), which is methylated on the maternal chromosome. Genes expressed from the maternal chromosome are depicted as red boxes, and genes expressed from the paternal chromosome are depicted as blue boxes. Grey boxes indicate non-expressed alleles. Filled lollipops indicate methylated imprinting centres (ICs), and open lollipops indicate unmethylated ICs. Bent arrows indicate the orientation of transcription. Brioude, F. et al. (2018) Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement Nat. Rev. Endocrinol. doi:10.1038/nrendo.2017.166