所属单位：华侨大学医学院
教研室：精准医疗研究中心-孙涛课题组
发表刊物：Frontiers in Molecular Biosciences
刊物所在地：SWITZERLAND
项目来源：国自然青年基金，中青年基金
关键字：ATAC-seq; DNA methylation; chromosomal accessibility; epigenetics; klinefelter syndrome.
摘要：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.
论文类型：期刊论文
论文编号：1128739
卷号：10
是否译文：否
发表时间：2023-03-27
收录刊物：SCI
DOI码：10.3389/fmolb.2023.1128739
影响因子：6.123
第一作者：苗楠
通讯作者：孙涛
发布期刊链接：https://doi.org/10.3389/fmolb.2023.1128739