DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations

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dc.contributor.author El Maarri, Osman
dc.contributor.author Sharma, Amit
dc.contributor.author Jamil, Muhammad Ahmer
dc.contributor.author Nuesgen, Nicole
dc.contributor.author Schreiner, Felix
dc.contributor.author Priebe, Lutz
dc.contributor.author Hoffman, Per
dc.date.accessioned 2017-09-15T06:56:16Z
dc.date.available 2017-09-15T06:56:16Z
dc.date.copyright 2015 en_US
dc.date.issued 2017-09-15
dc.identifier.issn 1868-7083 en_US
dc.identifier.uri http://hdl.handle.net/10725/6198
dc.description.abstract 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. en_US
dc.language.iso en en_US
dc.title DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations 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 Clinical Epigenetics en_US
dc.journal.volume 7 en_US
dc.journal.issue 76 en_US
dc.keywords Klinefelter en_US
dc.keywords Turner en_US
dc.keywords DNA methylation en_US
dc.keywords PAR region en_US
dc.keywords X chromosome inactivation en_US
dc.keywords Epigenetics en_US
dc.identifier.doi https://doi.org/10.1186/s13148-015-0112-2 en_US
dc.identifier.ctation 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. 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://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-015-0112-2 en_US
dc.author.affiliation Lebanese American University en_US

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