Table10_Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility.XLSX

Klinefelter syndrome (KS, 47XXY) is a disorder characterized by sex chromosomal aneuploidy, which may lead to changes in epigenetic regulations of gene expression. To define epigenetic architectures in 47XXY, we annotated DNA methylation in euploid males (46XY) and females (46XX), and 47XXY individuals using whole genome bisulfite sequencing (WGBS) and integrated chromatin accessbilty, and detected abnormal hypermethylation in 47XXY. Furthermore, we detected altered chromatin accessibility in 47XXY, in particular in chromosome X, using Assay for Transposase-Accessible Chromatin sequencing (ATAC-seq) in cultured amniotic cells. Our results construct the whole genome-wide DNA methylation map in 47XXY, and provide new insights into the early epigenomic dysregulation resulting from an extra chromosome X in 47XXY.

克莱因费尔特综合症（KS，47XXY）是一种以性染色体非整倍性为特征的疾病，可能导致基因表达的表观遗传调控发生变化。为了定义47XXY中的表观遗传结构，我们采用全基因组亚硫酸氢盐测序（WGBS）和染色质可及性整合技术，对正常男性（46XY）和女性（46XX）以及47XXY个体进行了DNA甲基化注释，并检测到47XXY中的异常高甲基化。此外，我们利用培养的羊水细胞中的转座酶可及性染色质测序（ATAC-seq）技术，检测到47XXY中染色质可及性的改变，尤其是在X染色体上。我们的研究结果构建了47XXY的全基因组DNA甲基化图谱，并为进一步揭示了因47XXY中额外X染色体引起的早期表观基因组失调提供了新的见解。