The DNA Methylome of Human Peripheral Blood Mononuclear Cells: e1000533

DNA methylation plays an important role in biological processes in human health and disease. Recent technological advances allow unbiased whole-genome DNA methylation (methylome) analysis to be carried out on human cells. Using whole-genome bisulfite sequencing at 24.7-fold coverage (12.3-fold per s...

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Veröffentlicht in:PLoS biology 2010-11, Vol.8 (11)
Hauptverfasser: Li, Yingrui, Zhu, Jingde, Tian, Geng, Li, Ning, Li, Qibin, Ye, Mingzhi, Zheng, Hancheng, Yu, Jian, Wu, Honglong, Sun, Jihua, Zhang, Hongyu, Chen, Quan, Luo, Ruibang, Chen, Minfeng, He, Yinghua, Jin, Xin, Zhang, Qinghui, Yu, Chang, Zhou, Guangyu, Sun, Jinfeng, Huang, Yebo, Zheng, Huisong, Cao, Hongzhi, Zhou, Xiaoyu, Guo, Shicheng, Hu, Xueda, Li, Xin, Kristiansen, Karsten, Bolund, Lars, Xu, Jiujin, Wang, Wen, Yang, Huanming, Wang, Jian, Li, Ruiqiang, Beck, Stephan, Wang, Jun, Zhang, Xiuqing
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container_issue 11
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container_title PLoS biology
container_volume 8
creator Li, Yingrui
Zhu, Jingde
Tian, Geng
Li, Ning
Li, Qibin
Ye, Mingzhi
Zheng, Hancheng
Yu, Jian
Wu, Honglong
Sun, Jihua
Zhang, Hongyu
Chen, Quan
Luo, Ruibang
Chen, Minfeng
He, Yinghua
Jin, Xin
Zhang, Qinghui
Yu, Chang
Zhou, Guangyu
Sun, Jinfeng
Huang, Yebo
Zheng, Huisong
Cao, Hongzhi
Zhou, Xiaoyu
Guo, Shicheng
Hu, Xueda
Li, Xin
Kristiansen, Karsten
Bolund, Lars
Xu, Jiujin
Wang, Wen
Yang, Huanming
Wang, Jian
Li, Ruiqiang
Beck, Stephan
Wang, Jun
Zhang, Xiuqing
description DNA methylation plays an important role in biological processes in human health and disease. Recent technological advances allow unbiased whole-genome DNA methylation (methylome) analysis to be carried out on human cells. Using whole-genome bisulfite sequencing at 24.7-fold coverage (12.3-fold per strand), we report a comprehensive (92.62%) methylome and analysis of the unique sequences in human peripheral blood mononuclear cells (PBMC) from the same Asian individual whose genome was deciphered in the YH project. PBMC constitute an important source for clinical blood tests world-wide. We found that 68.4% of CpG sites and 80% displayed allele-specific expression (ASE). These data demonstrate that ASM is a recurrent phenomenon and is highly correlated with ASE in human PBMCs. Together with recently reported similar studies, our study provides a comprehensive resource for future epigenomic research and confirms new sequencing technology as a paradigm for large-scale epigenomics studies.
doi_str_mv 10.1371/journal.pbio.1000533
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Recent technological advances allow unbiased whole-genome DNA methylation (methylome) analysis to be carried out on human cells. Using whole-genome bisulfite sequencing at 24.7-fold coverage (12.3-fold per strand), we report a comprehensive (92.62%) methylome and analysis of the unique sequences in human peripheral blood mononuclear cells (PBMC) from the same Asian individual whose genome was deciphered in the YH project. PBMC constitute an important source for clinical blood tests world-wide. We found that 68.4% of CpG sites and &lt;0.2% of non-CpG sites were methylated, demonstrating that non-CpG cytosine methylation is minor in human PBMC. Analysis of the PBMC methylome revealed a rich epigenomic landscape for 20 distinct genomic features, including regulatory, protein-coding, non-coding, RNA-coding, and repeat sequences. Integration of our methylome data with the YH genome sequence enabled a first comprehensive assessment of allele-specific methylation (ASM) between the two haploid methylomes of any individual and allowed the identification of 599 haploid differentially methylated regions (hDMRs) covering 287 genes. Of these, 76 genes had hDMRs within 2 kb of their transcriptional start sites of which &gt;80% displayed allele-specific expression (ASE). These data demonstrate that ASM is a recurrent phenomenon and is highly correlated with ASE in human PBMCs. Together with recently reported similar studies, our study provides a comprehensive resource for future epigenomic research and confirms new sequencing technology as a paradigm for large-scale epigenomics studies.</description><identifier>ISSN: 1544-9173</identifier><identifier>EISSN: 1545-7885</identifier><identifier>DOI: 10.1371/journal.pbio.1000533</identifier><language>eng</language><publisher>San Francisco: Public Library of Science</publisher><subject>Blood ; Classification ; Deoxyribonucleic acid ; DNA ; DNA methylation ; Gene expression ; Genetics ; Genomes ; Stem cells</subject><ispartof>PLoS biology, 2010-11, Vol.8 (11)</ispartof><rights>2010 Li et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Li Y, Zhu J, Tian G, Li N, Li Q, et al. 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Recent technological advances allow unbiased whole-genome DNA methylation (methylome) analysis to be carried out on human cells. Using whole-genome bisulfite sequencing at 24.7-fold coverage (12.3-fold per strand), we report a comprehensive (92.62%) methylome and analysis of the unique sequences in human peripheral blood mononuclear cells (PBMC) from the same Asian individual whose genome was deciphered in the YH project. PBMC constitute an important source for clinical blood tests world-wide. We found that 68.4% of CpG sites and &lt;0.2% of non-CpG sites were methylated, demonstrating that non-CpG cytosine methylation is minor in human PBMC. Analysis of the PBMC methylome revealed a rich epigenomic landscape for 20 distinct genomic features, including regulatory, protein-coding, non-coding, RNA-coding, and repeat sequences. Integration of our methylome data with the YH genome sequence enabled a first comprehensive assessment of allele-specific methylation (ASM) between the two haploid methylomes of any individual and allowed the identification of 599 haploid differentially methylated regions (hDMRs) covering 287 genes. Of these, 76 genes had hDMRs within 2 kb of their transcriptional start sites of which &gt;80% displayed allele-specific expression (ASE). These data demonstrate that ASM is a recurrent phenomenon and is highly correlated with ASE in human PBMCs. 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subjects Blood
Classification
Deoxyribonucleic acid
DNA
DNA methylation
Gene expression
Genetics
Genomes
Stem cells
title The DNA Methylome of Human Peripheral Blood Mononuclear Cells: e1000533
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