DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations
Background Abnormal sex chromosome numbers in humans are observed in Turner (45,X) and Klinefelter (47,XXY) syndromes. Both syndromes are associated with several clinical phenotypes, whose molecular mechanisms are obscure, and show a range of inter-individual penetrance. In order to understand the e...
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| التنسيق: | article |
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/6198 https://doi.org/10.1186/s13148-015-0112-2 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-015-0112-2 |
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| _version_ | 1864513478892453888 |
|---|---|
| author | El Maarri, Osman |
| author2 | Sharma, Amit Jamil, Muhammad Ahmer Nuesgen, Nicole Schreiner, Felix Priebe, Lutz Hoffman, Per |
| author2_role | author author author author author author |
| author_facet | El Maarri, Osman Sharma, Amit Jamil, Muhammad Ahmer Nuesgen, Nicole Schreiner, Felix Priebe, Lutz Hoffman, Per |
| author_role | author |
| dc.creator.none.fl_str_mv | El Maarri, Osman Sharma, Amit Jamil, Muhammad Ahmer Nuesgen, Nicole Schreiner, Felix Priebe, Lutz Hoffman, Per |
| dc.date.none.fl_str_mv | 2015 2017-09-15T06:56:16Z 2017-09-15T06:56:16Z 2017-09-15 |
| dc.identifier.none.fl_str_mv | 1868-7083 http://hdl.handle.net/10725/6198 https://doi.org/10.1186/s13148-015-0112-2 Sharma, A., Jamil, M. A., Nuesgen, N., Schreiner, F., Priebe, L., Hoffmann, P., ... & Woelfle, J. (2015). DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations. Clinical epigenetics, 7(1), 76. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-015-0112-2 |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Clinical Epigenetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | Background Abnormal sex chromosome numbers in humans are observed in Turner (45,X) and Klinefelter (47,XXY) syndromes. Both syndromes are associated with several clinical phenotypes, whose molecular mechanisms are obscure, and show a range of inter-individual penetrance. In order to understand the effect of abnormal numbers of X chromosome on the methylome and its correlation to the variable clinical phenotype, we performed a genome-wide methylation analysis using MeDIP and Illumina’s Infinium assay on individuals with four karyotypes: 45,X, 46,XY, 46,XX, and 47,XXY. Results DNA methylation changes were widespread on all autosomal chromosomes in 45,X and in 47,XXY individuals, with Turner individuals presenting five times more affected loci. Differentially methylated CpGs, in most cases, have intermediate methylation levels and tend to occur outside CpG islands, especially in individuals with Turner syndrome. The X inactivation process appears to be less effective in Klinefelter syndrome as methylation on the X was decreased compared to normal female samples. In a large number of individuals, we verified several loci by pyrosequencing and observed only weak inter-loci correlations between the verified regions. This suggests a certain stochastic/random contribution to the methylation changes at each locus. Interestingly, methylation patterns on some PAR2 loci differ between male and Turner syndrome individuals and between female and Klinefelter syndrome individuals, which possibly contributed to this distinguished and unique autosomal methylation patterns in Turner and Klinefelter syndrome individuals. Conclusions The presented data clearly show that gain or loss of an X chromosome results in different epigenetic effects, which are not necessary opposite. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_6cf69d952a2b0251f81fc5bbf49c9475 |
| identifier_str_mv | 1868-7083 Sharma, A., Jamil, M. A., Nuesgen, N., Schreiner, F., Priebe, L., Hoffmann, P., ... & Woelfle, J. (2015). DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations. Clinical epigenetics, 7(1), 76. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/6198 |
| publishDate | 2015 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrationsEl Maarri, OsmanSharma, AmitJamil, Muhammad AhmerNuesgen, NicoleSchreiner, FelixPriebe, LutzHoffman, PerBackground Abnormal sex chromosome numbers in humans are observed in Turner (45,X) and Klinefelter (47,XXY) syndromes. Both syndromes are associated with several clinical phenotypes, whose molecular mechanisms are obscure, and show a range of inter-individual penetrance. In order to understand the effect of abnormal numbers of X chromosome on the methylome and its correlation to the variable clinical phenotype, we performed a genome-wide methylation analysis using MeDIP and Illumina’s Infinium assay on individuals with four karyotypes: 45,X, 46,XY, 46,XX, and 47,XXY. Results DNA methylation changes were widespread on all autosomal chromosomes in 45,X and in 47,XXY individuals, with Turner individuals presenting five times more affected loci. Differentially methylated CpGs, in most cases, have intermediate methylation levels and tend to occur outside CpG islands, especially in individuals with Turner syndrome. The X inactivation process appears to be less effective in Klinefelter syndrome as methylation on the X was decreased compared to normal female samples. In a large number of individuals, we verified several loci by pyrosequencing and observed only weak inter-loci correlations between the verified regions. This suggests a certain stochastic/random contribution to the methylation changes at each locus. Interestingly, methylation patterns on some PAR2 loci differ between male and Turner syndrome individuals and between female and Klinefelter syndrome individuals, which possibly contributed to this distinguished and unique autosomal methylation patterns in Turner and Klinefelter syndrome individuals. Conclusions The presented data clearly show that gain or loss of an X chromosome results in different epigenetic effects, which are not necessary opposite.PublishedN/A2017-09-15T06:56:16Z2017-09-15T06:56:16Z20152017-09-15Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1868-7083http://hdl.handle.net/10725/6198https://doi.org/10.1186/s13148-015-0112-2Sharma, A., Jamil, M. A., Nuesgen, N., Schreiner, F., Priebe, L., Hoffmann, P., ... & Woelfle, J. (2015). DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations. Clinical epigenetics, 7(1), 76.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttps://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-015-0112-2enClinical Epigeneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/61982021-03-19T10:43:12Z |
| spellingShingle | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations El Maarri, Osman |
| status_str | publishedVersion |
| title | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| title_full | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| title_fullStr | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| title_full_unstemmed | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| title_short | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| title_sort | DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations |
| url | http://hdl.handle.net/10725/6198 https://doi.org/10.1186/s13148-015-0112-2 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-015-0112-2 |