Widespread DNA hypomethylation and differential gene expression in Turner syndrome

• DOI: 10.1038/srep34220
• Publication Date: 2016-09-30T09:14:10Z
• Authors: Christian Trolle; Morten Muhlig Nie...; Anne Skakkebæk; Philippe Lamy; Søren Vang; Jakob Hedegaard; Iver Nordentoft; Torben Falck Ørntoft; Jakob Skou Pedersen; Claus Højbjerg Gr...
• Keywords: Monosomy; Candidate gene

Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses die in utero. In adulthood is associated increased morbidity and mortality, although strikingly heterogeneous some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease infertility. The present study investigates the leukocyte DNAmethylation profile by using 450K-Illumina Infinium assay RNA-expression compared karyotypically normal female male controls. We results illustrating that genome wide X-chromosome profile, autosomal DNA-methylation methylation clearly distinguish Turner syndrome Our reveal hypomethylation most differentially methylated positions showing medium level methylation. Contrary to previous studies, applying single loci specific analysis at well-defined DNA loci, our indicate extend repetitive elements. describe novel candidate genes could be involved comorbidity TS explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), aortic aneurysm formation (ZFYVE9 TIMP1).