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

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dc.contributor.author Djuric U.
dc.contributor.author El-Maarri O.
dc.contributor.author Lamb B.
dc.contributor.author Kuick R.
dc.contributor.author Seoud M.
dc.contributor.author Coullin P.
dc.contributor.author Oldenburg J.
dc.contributor.author Hanash S.
dc.contributor.author Slim R.
dc.contributor.editor
dc.date Oct-2006
dc.date.accessioned 2017-10-05T15:46:57Z
dc.date.available 2017-10-05T15:46:57Z
dc.date.issued 2006
dc.identifier 10.1007/s00439-006-0192-3
dc.identifier.isbn
dc.identifier.issn 03406717
dc.identifier.uri http://hdl.handle.net/10938/18573
dc.description.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. © Springer-Verlag 2006.
dc.format.extent
dc.format.extent Pages: (390-395)
dc.language English
dc.publisher NEW YORK
dc.relation.ispartof Publication Name: Human Genetics; Publication Year: 2006; Volume: 120; no. 3; Pages: (390-395);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation
dc.type Article
dc.contributor.affiliation Djuric, U., Departments of Human Genetics and Obstetrics and Gynecology, McGill University Health Center, Montreal, QC H3G 1A4, Canada
dc.contributor.affiliation El-Maarri, O., Institute of Experimental Haematology and Transfusion Medicine, Bonn 53105, Germany
dc.contributor.affiliation Lamb, B., Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, United States
dc.contributor.affiliation Kuick, R., Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, United States
dc.contributor.affiliation Seoud, M., Department of Obstetrics and Gynecology, American University of Beirut, P.O. Box 11-236, Beirut, Lebanon
dc.contributor.affiliation Coullin, P., Endocrinologie et Génétique du Développement et de la Reproduction, 32 Rue des Carnets, Clamart 92140, France
dc.contributor.affiliation Oldenburg, J., Institute of Experimental Haematology and Transfusion Medicine, Bonn 53105, Germany
dc.contributor.affiliation Hanash, S., Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, United States
dc.contributor.affiliation Slim, R., Departments of Human Genetics and Obstetrics and Gynecology, McGill University Health Center, Montreal, QC H3G 1A4, Canada, Montreal General Hospital Research Institute, 1650 Cedar Avenue, Montreal, QC H3G 1A4, Canada
dc.contributor.authorAddress Slim, R.; Departments of Human Genetics and Obstetrics and Gynecology, McGill University Health Center, Montreal, QC H3G 1A4, Canada; email: rima.slim@muhc.mcgill.ca
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Obstetrics and Gynecology;
dc.contributor.authorDepartment Obstetrics and Gynecology
dc.contributor.authorDivision
dc.contributor.authorEmail rima.slim@muhc.mcgill.ca
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Djuric, U
dc.contributor.authorInitials El-Maarri, O
dc.contributor.authorInitials Lamb, B
dc.contributor.authorInitials Kuick, R
dc.contributor.authorInitials Seoud, M
dc.contributor.authorInitials Coullin, P
dc.contributor.authorInitials Oldenburg, J
dc.contributor.authorInitials Hanash, S
dc.contributor.authorInitials Slim, R
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Slim, R (reprint author), Montreal Gen Hosp, Res Inst, Room L12-132,1650 Cedar Ave, Montreal, PQ H3G 1A4, Canada.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 21
dc.description.citedTotWOSCount 21
dc.description.citedWOSCount 20
dc.format.extentCount 6
dc.identifier.articleNo
dc.identifier.coden HUGED
dc.identifier.pubmedID 16874523
dc.identifier.scopusID 33748744526
dc.identifier.url
dc.publisher.address 233 SPRING ST, NEW YORK, NY 10013 USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Hum. Genet.
dc.relation.ispartOfIssue 3
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Human Genetics
dc.relation.ispartofPubTitleAbbr Hum. Genet.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 120
dc.source.ID WOS:000240613900007
dc.type.publication Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS DNA, 9007-49-2
dc.subject.otherChemCAS uvomorulin, 112956-45-3
dc.subject.otherChemCAS Adaptor Proteins, Signal Transducing
dc.subject.otherChemCAS NALP7 protein, human
dc.subject.otherChemCAS NLRP7 protein, human
dc.subject.otherIndex cyclin dependent kinase inhibitor
dc.subject.otherIndex cyclin dependent kinase inhibitor 2A
dc.subject.otherIndex DNA
dc.subject.otherIndex gene product
dc.subject.otherIndex protein NALP7
dc.subject.otherIndex unclassified drug
dc.subject.otherIndex uvomorulin
dc.subject.otherIndex apoptosis
dc.subject.otherIndex article
dc.subject.otherIndex chorion villus
dc.subject.otherIndex chromosome 19q
dc.subject.otherIndex controlled study
dc.subject.otherIndex CpG island
dc.subject.otherIndex DNA extraction
dc.subject.otherIndex DNA methylation
dc.subject.otherIndex electrophoresis
dc.subject.otherIndex familial disease
dc.subject.otherIndex female
dc.subject.otherIndex gene function
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genome imprinting
dc.subject.otherIndex human
dc.subject.otherIndex human tissue
dc.subject.otherIndex hydatidiform mole
dc.subject.otherIndex inflammation
dc.subject.otherIndex long interspersed repeat
dc.subject.otherIndex molecular imprinting
dc.subject.otherIndex priority journal
dc.subject.otherIndex Southern blotting
dc.subject.otherIndex stereomicroscopy
dc.subject.otherIndex X chromosome
dc.subject.otherIndex Adaptor Proteins, Signal Transducing
dc.subject.otherIndex Chromosomes, Human, X
dc.subject.otherIndex DNA Methylation
dc.subject.otherIndex Female
dc.subject.otherIndex Genes, Neoplasm
dc.subject.otherIndex Humans
dc.subject.otherIndex Hydatidiform Mole
dc.subject.otherIndex Male
dc.subject.otherIndex Mutation
dc.subject.otherIndex Pregnancy
dc.subject.otherIndex Repetitive Sequences, Nucleic Acid
dc.subject.otherIndex Uterine Neoplasms
dc.subject.otherIndex X Chromosome Inactivation
dc.subject.otherKeywordPlus X-CHROMOSOME INACTIVATION
dc.subject.otherKeywordPlus HYDATIDIFORM MOLES
dc.subject.otherKeywordPlus PATTERNS
dc.subject.otherKeywordPlus REPEAT
dc.subject.otherKeywordPlus EVENTS
dc.subject.otherKeywordPlus SITES
dc.subject.otherKeywordPlus MOUSE
dc.subject.otherKeywordPlus ASSAY
dc.subject.otherKeywordPlus MICE
dc.subject.otherWOS Genetics and Heredity


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