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对人体尸检标本的体细胞进行表观遗传学分析,可确定组织和个体特异性的 DNA 甲基化模式。

Epigenetic profiling of somatic tissues from human autopsy specimens identifies tissue- and individual-specific DNA methylation patterns.

机构信息

Jane Anne Nohl Division of Hematology, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

出版信息

Hum Mol Genet. 2009 Dec 15;18(24):4808-17. doi: 10.1093/hmg/ddp445. Epub 2009 Sep 23.

Abstract

DNA methylation is known to be associated with cell differentiation, aging, disease and cancer. There exists an expanding base of knowledge regarding tissue-specific DNA methylation, but we have little information about person-specific DNA methylation. Here, we analyze the DNA methylation patterns of multiple tissues from multiple individuals using a high-throughput quantitative assay of genome-wide DNA methylation, namely the Illumina GoldenGate BeadArray. DNA methylation patterns were largely conserved across 11 different tissues (r = 0.852) and across six individuals (r = 0.829), and we found that DNA was highly methylated in non-CpG islands and/or CpG sites that are not occupied by either H3K4me3 or H3K27me3 (P < 0.05). Finally, we found that the Illumina GoldenGate assay features a large number of probes (265/1505 probes, 17.6%) that contain single-nucleotide polymorphisms, which may interfere with DNA methylation analyses in genome-wide studies.

摘要

DNA 甲基化与细胞分化、衰老、疾病和癌症有关。关于组织特异性 DNA 甲基化,我们已经有了越来越多的知识,但关于个体特异性 DNA 甲基化的信息却很少。在这里,我们使用高通量全基因组 DNA 甲基化定量检测方法(即 Illumina GoldenGate BeadArray)分析了来自多个个体的多种组织的 DNA 甲基化模式。11 种不同组织(r = 0.852)和 6 个个体(r = 0.829)之间的 DNA 甲基化模式基本保持一致,我们发现非 CpG 岛和/或未被 H3K4me3 或 H3K27me3 占据的 CpG 位点的 DNA 高度甲基化(P < 0.05)。最后,我们发现 Illumina GoldenGate 检测法的许多探针(265/1505 个探针,17.6%)都包含单核苷酸多态性,这可能会干扰全基因组研究中的 DNA 甲基化分析。

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