Relaxation of IGF2/H19 imprinting in Wilms tumour is associated with a switch in DNA methylation
- Univ. of Otago, Dunedin (New Zealand)
We and others have recently shown that the normal imprinting of the insulin-like growth factor 2 (IGF2) gene is disrupted in Wilms tumor. The process of relaxation of IGF2 imprinting leads to the activation of transcription of the normally silent maternally inherited IGF2 allele such that both alleles of the IGF2 gene are transcribed. Relaxation of IGF2 imprinting has also been detected as a constitutional event in patients with the Beckwith-Wiedemann syndrom and a patient with gigantism and Wilms tumor. We have now shown that in Wilms tumors in which imprinting is relaxed, IGF2 is transcribed from the maternal allele and there is a concomitant transcriptional inactivation of the H19 maternal allele. Furthermore, the patterns of methylation of the IGF2 and H19 gene are reversed on the maternal chromosome. Relaxation of imprinting in Wilms tumors appear, therefore, to be associated with a switch in gene expression and methylation at the IGF2/H19 locus. The data supports the notion of a disrupted IGF2/H19 imprinting switch in Wilms tumor.
- OSTI ID:
- 134303
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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