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

Nan Miao; Zhiwei Zeng; Trevor Lee; Qiwei Guo; Wenwei Zheng; Wenjie Cai; Wanhua Chen; Jing Wang; Tao Sun

doi:10.3389/fmolb.2023.1128739

Frontiers in Molecular Biosciences (Mar 2023)

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

Nan Miao,
Zhiwei Zeng,
Trevor Lee,
Qiwei Guo,
Wenwei Zheng,
Wenjie Cai,
Wanhua Chen,
Jing Wang,
Tao Sun

Affiliations

Nan Miao: Center for Precision Medicine, School of Medicine and School of Biomedical Sciences, Huaqiao University, Xiamen, Fujian, China
Zhiwei Zeng: Center for Precision Medicine, School of Medicine and School of Biomedical Sciences, Huaqiao University, Xiamen, Fujian, China
Trevor Lee: Department of Cell and Developmental Biology, Cornell University Weill Medical College, New York, NY, United States
Qiwei Guo: United Diagnostic and Research Center for Clinical Genetics, Women and Children’s Hospital, School of Medicine & School of Public Health, Xiamen University, Xiamen, Fujian, China
Wenwei Zheng: Quanzhou Women and Children’s Hospital, Quanzhou, Fujian, China
Wenjie Cai: Department of Radiation Oncology, First Hospital of Quanzhou, Fujian Medical University, Quanzhou, Fujian, China
Wanhua Chen: Department of Clinical Laboratory, First Hospital of Quanzhou, Fujian Medical University, Quanzhou, Fujian, China
Jing Wang: Center for Precision Medicine, School of Medicine and School of Biomedical Sciences, Huaqiao University, Xiamen, Fujian, China
Tao Sun: Center for Precision Medicine, School of Medicine and School of Biomedical Sciences, Huaqiao University, Xiamen, Fujian, China

DOI: https://doi.org/10.3389/fmolb.2023.1128739
Journal volume & issue: Vol. 10

Abstract

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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.

Published in Frontiers in Molecular Biosciences

ISSN: 2296-889X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General)
Website: https://www.frontiersin.org/journals/molecular-biosciences

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