Table11_Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility.XLS

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改变。为定义47XXY的表观遗传结构，我们利用全基因组亚硫酸氢盐测序（WGBS）和染色质可及性整合技术，对二倍体男性（46XY）和女性（46XX）以及47XXY个体中的DNA甲基化进行了注释，并检测到了47XXY中的异常高甲基化现象。此外，我们还利用培养的羊水细胞的转座酶可及染色质测序（ATAC-seq）技术，在47XXY中检测到了染色质可及性的改变，特别是在X染色体上。我们的研究构建了47XXY的基因组广域DNA甲基化图谱，并为进一步揭示由于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。