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Beckwith-Wiedemann syndrome: imprinting in clusters revisited
Eamonn R. Maher, Wolf Reik
Published in Volume 105, Issue 3
J Clin Invest. 2000; 105(3):247–252 doi:10.1172/JCI9340
This article Copyright © 2000, The American Society for Clinical Investigation
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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.

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