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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/0003-2697(71)90375-7

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1432-1203

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Familial molar tissues due to mutations in the inf

Authors: Ugljesa Djuric Osman ElMaarri Barbara Lamb Rork Kuick Muheiddine Seoud Philippe Coullin Johannes Oldenburg Samir Hanash Rima Slim
Publish Date: 2006/07/28
Volume: 120, Issue: 3, Pages: 390-395
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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 19q134 gene NALP7 We demonstrate normal postzygotic DNA methylation patterns at major repetitive and long interspersed nuclear elements LINEs genes on the inactive Xchromosome threecancer 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 tissuesWe would like to thank the members of the families for their participation in this study Dr Paul Fournier for his help in obtaining trophoblast tissues from therapeutic abortions RS is supported by the Fonds de la Recherche en Santé du Québec and by an operating MOP67179 and an international development OPD73018 grants from the Canadian Institute of Health Research

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