Beckwith-Wiedemann syndrome: imprinting in clusters revisited
J. Clin. Invest. Eamonn R. Maher, et al. 105:247 doi:10.1172/JCI9340 [
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Figure 3 A speculative model for imprinting of genes in the BWS cluster on chromosome 11p15.5. Shared enhancers exist for
IGF2 and
H19 and are proposed for
CDKN1C and
KvLQT1. Methylation of the H19 DMR silences
H19 and activates
IGF2. Methylation of KvDMR1 is proposed to silence
KCNQ1OT and to activate
CDKN1C and
KvLQT1.
