Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation
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 th...
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2006
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| Online Access: | http://hdl.handle.net/10725/6176 http://dx.doi.org/10.1007/s00439-006-0192-0 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://link.springer.com/article/10.1007/s00439-006-0192-3 |
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| _version_ | 1864513478635552768 |
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| author | El Maarri, Osman |
| author2 | Djuric, Ugljesa Lamb, Barbara Kuick, Rork Seoud, Muheiddine Coullin, Philippe Oldenburg, Johannes Hanash, Samir Slim, Rima |
| author2_role | author author author author author author author author |
| author_facet | El Maarri, Osman Djuric, Ugljesa Lamb, Barbara Kuick, Rork Seoud, Muheiddine Coullin, Philippe Oldenburg, Johannes Hanash, Samir Slim, Rima |
| author_role | author |
| dc.creator.none.fl_str_mv | El Maarri, Osman Djuric, Ugljesa Lamb, Barbara Kuick, Rork Seoud, Muheiddine Coullin, Philippe Oldenburg, Johannes Hanash, Samir Slim, Rima |
| dc.date.none.fl_str_mv | 2006 2017-09-13T08:34:11Z 2017-09-13T08:34:11Z 2017-09-13 |
| dc.identifier.none.fl_str_mv | 1432-1203 http://hdl.handle.net/10725/6176 http://dx.doi.org/10.1007/s00439-006-0192-0 Djuric, U., El-Maarri, O., Lamb, B., Kuick, R., Seoud, M., Coullin, P., ... & Slim, R. (2006). Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Human genetics, 120(3), 390-395. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://link.springer.com/article/10.1007/s00439-006-0192-3 |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Human Genetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_341f76a221533e0b8f044d35cc20aa0e |
| identifier_str_mv | 1432-1203 Djuric, U., El-Maarri, O., Lamb, B., Kuick, R., Seoud, M., Coullin, P., ... & Slim, R. (2006). Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Human genetics, 120(3), 390-395. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/6176 |
| publishDate | 2006 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylationEl Maarri, OsmanDjuric, UgljesaLamb, BarbaraKuick, RorkSeoud, MuheiddineCoullin, PhilippeOldenburg, JohannesHanash, SamirSlim, RimaAn 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.PublishedN/A2017-09-13T08:34:11Z2017-09-13T08:34:11Z20062017-09-13Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1432-1203http://hdl.handle.net/10725/6176http://dx.doi.org/10.1007/s00439-006-0192-0Djuric, U., El-Maarri, O., Lamb, B., Kuick, R., Seoud, M., Coullin, P., ... & Slim, R. (2006). Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Human genetics, 120(3), 390-395.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttps://link.springer.com/article/10.1007/s00439-006-0192-3enHuman Geneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/61762021-03-19T10:00:49Z |
| spellingShingle | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation El Maarri, Osman |
| status_str | publishedVersion |
| title | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| title_full | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| title_fullStr | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| title_full_unstemmed | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| title_short | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| title_sort | Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
| url | http://hdl.handle.net/10725/6176 http://dx.doi.org/10.1007/s00439-006-0192-0 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://link.springer.com/article/10.1007/s00439-006-0192-3 |