Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes

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dc.contributor.author El Maarri, Osman
dc.contributor.author Seoud, Muhieddine
dc.contributor.author Riviere, Jean-Baptiste
dc.contributor.author Oldenburg, Johannes
dc.contributor.author Walter, Jorn
dc.contributor.author Rouleau, Guy
dc.contributor.author Slim, Rima
dc.date.accessioned 2017-09-13T06:25:19Z
dc.date.available 2017-09-13T06:25:19Z
dc.date.copyright 2005 en_US
dc.identifier.issn 1476-5438 en_US
dc.identifier.uri http://hdl.handle.net/10725/6172
dc.description.abstract In molar tissues from patients with recurrent biparental hydatidiform moles, we could previously demonstrate that differentially methylated regions (DMRs) of four imprinted genes are abnormally methylated on the maternal alleles. It remained unclear if this abnormal methylation originated de novo in the molar tissues or if it is even recognizable in the patient somatic tissues. To address this question, we investigated the DNA methylation of four imprinted genes in total blood from the two sister-patients. Here, we show that both patients retain normal methylation levels at the DMRs of the four genes in blood tissues. For two maternally expressed genes, we could use informative SNPs to follow the inheritance of the abnormally methylated maternal alleles in the molar tissues. We find that the transmitted abnormally methylated maternal alleles to the moles originated from the maternal grandmother and that the same alleles are not methylated in the patients. Our data suggest that the abnormal methylation in familial biparental molar tissues was acquired de novo in the patients’germline as a result of a false reprogramming or during the postzygotic development of the conceptuses that led to moles. en_US
dc.language.iso en en_US
dc.title Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 201508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal European Journal of Human Genetics en_US
dc.journal.volume 13 en_US
dc.journal.issue 4 en_US
dc.article.pages 486-490 en_US
dc.keywords Hydatidiform moles en_US
dc.keywords Molar pregnancy en_US
dc.keywords methylation analysis en_US
dc.keywords SIRPH en_US
dc.keywords Imprinting en_US
dc.identifier.ctation El-Maarri, O., Seoud, M., Rivière, J. B., Oldenburg, J., Walter, J., Rouleau, G., & Slim, R. (2005). Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes. European journal of human genetics: EJHG, 13(4), 486. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://search.proquest.com/docview/217840954?pq-origsite=gscholar en_US
dc.author.affiliation Lebanese American University en_US

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