Beckwith-Wiedemann syndrome: imprinting in clusters revisited
Eamonn R. Maher, Wolf Reik
Eamonn R. Maher, Wolf Reik
Published February 1, 2000
Citation Information: J Clin Invest. 2000;105(3):247-252. https://doi.org/10.1172/JCI9340.
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Beckwith-Wiedemann syndrome: imprinting in clusters revisited

Abstract

Authors

Eamonn R. Maher, Wolf Reik

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A speculative model for imprinting of genes in the BWS cluster on chrom...
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.