Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
Top Cited Papers
- 15 August 2004
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 36 (9), 958-960
- https://doi.org/10.1038/ng1410
Abstract
The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletions results in hypermethylation of the H19 DMR, biallelic IGF2 expression, H19 silencing and Beckwith-Wiedemann syndrome, indicative of loss of function of the IGF2-H19 imprinting control element.Keywords
This publication has 15 references indexed in Scilit:
- Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal developmentHuman Molecular Genetics, 2003
- CTCF maintains differential methylation at the Igf2/H19 locusNature Genetics, 2002
- DNA methylation and genomic imprinting: insights from cancer into epigenetic mechanismsSeminars in Cancer Biology, 2002
- Functional association of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitiveCurrent Biology, 2000
- Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 geneNature, 2000
- CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locusNature, 2000
- Maternal-specific footprints at putative CTCF sites in the H19 imprinting control region give evidence for insulator functionCurrent Biology, 2000
- Beckwith-Wiedemann syndrome: imprinting in clusters revisitedJournal of Clinical Investigation, 2000
- Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2Genes & Development, 1998
- Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromesGenes & Development, 1997