Human Genetics

, Volume 120, Issue 3, pp 390–395

Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation

  • Ugljesa Djuric
  • Osman El-Maarri
  • Barbara Lamb
  • Rork Kuick
  • Muheiddine Seoud
  • Philippe Coullin
  • Johannes Oldenburg
  • Samir Hanash
  • Rima Slim
Original Investigation

DOI: 10.1007/s00439-006-0192-3

Cite this article as:
Djuric, U., El-Maarri, O., Lamb, B. et al. Hum Genet (2006) 120: 390. doi:10.1007/s00439-006-0192-3

Abstract

An imprinting disorder has been believed to underlie the etiology of familial biparental hydatidiform moles (HMs) based on the abnormal methylation or expression of imprinted genes in molar tissues. However, the extent of the epigenetic defect in these tissues and the developmental stage at which the disorder begins have been poorly defined. In this study, we assessed the extent of abnormal DNA methylation in two HMs caused by mutations in the recently identified 19q13.4 gene, NALP7. We demonstrate normal postzygotic DNA methylation patterns at major repetitive and long interspersed nuclear elements (LINEs), genes on the inactive X-chromosome, three-cancer related genes, and CpG rich regions surrounding the PEG3 differentially methylated region (DMR). Our data provide a comprehensive assessment of DNA methylation in familial molar tissues and indicate that abnormal DNA methylation in these tissues is restricted to imprinted DMRs. The known role of NALP7 in apoptosis and inflammation pinpoints previously unrecognized pathways that could directly or indirectly underlie the abnormal methylation of imprinted genes in molar tissues.

Supplementary material

439_2006_192_MOESM1_ESM.xls (32 kb)
Supplementary material

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Ugljesa Djuric
    • 1
  • Osman El-Maarri
    • 2
  • Barbara Lamb
    • 3
  • Rork Kuick
    • 3
  • Muheiddine Seoud
    • 4
  • Philippe Coullin
    • 5
  • Johannes Oldenburg
    • 2
  • Samir Hanash
    • 3
  • Rima Slim
    • 1
    • 6
  1. 1.Departments of Human Genetics and Obstetrics and GynecologyMcGill University Health CenterMontrealCanada
  2. 2.Institute of Experimental Haematology and Transfusion MedicineBonnGermany
  3. 3.Department of PediatricsUniversity of MichiganAnn ArborUSA
  4. 4.Department of Obstetrics and GynecologyAmerican University of BeirutBeirutLebanon
  5. 5.Endocrinologie et génétique du développement et de la reproductionClamartFrance
  6. 6.Montreal General Hospital Research InstituteMontrealCanada