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Review
. 2000 Feb;105(3):247-52.
doi: 10.1172/JCI9340.

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

E R Maher  1 , W Reik
Affiliations
Review

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

E R Maher et al. J Clin Invest. 2000 Feb.
No abstract available

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Figures

Figure 1
Figure 1
The imprinting cluster on human chromosome 11p15.5. The distal breakpoint cluster region (BWSCR1) is indicated. Breakpoints within BWSCR1 disrupt KvLQT1. Solid red symbols indicate allelic silencing; green/white symbols indicate allelic transcription. The imprinting status of the INS (insulin) gene has not been defined in humans. Further details are included in the text.
Figure 2
Figure 2
Maternal epigenotype in normal controls and in patients with BWS who have BWSIC1 and BWSIC2 defects. Solid red symbols indicate allelic silencing; green/white symbols indicate allelic transcription. CH3 indicates methylation.
Figure 3
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.
See this image and copyright information in PMC

Comment in

  • Epigenetics and its role in disease.
    Tycko B, Ashkenas J. Tycko B, et al. J Clin Invest. 2000 Feb;105(3):245-6. doi: 10.1172/JCI9319. J Clin Invest. 2000. PMID: 10675348 Free PMC article. No abstract available.

References

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    1. Tycko, B. 2000. Genomic imprinting and human neoplasia. In DNA alterations in cancer: genetic and epigenetic changes. M. Ehrlich, editor. Eaton Publishing. Natick, UK.
    1. Lee MP, Hu R-J, Johnson LA, Feinberg AP. Human KVLQT1 gene shows tissue specific imprinting and encompasses Beckwith-Weidemann syndrome chromosomal rearrangements. Nat. Genet. 1997;15:181–185. - PubMed

Publication types