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首页> 外文期刊>Genomics >Analysis of tissue-specific differentially methylated regions (TDMs) in humans.
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Analysis of tissue-specific differentially methylated regions (TDMs) in humans.

机译：分析人体中的组织特异性差异甲基化区域（TDM）。

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摘要

Alterations in DNA methylation have been implicated in mammalian development. Hence, the identification of tissue-specific differentially methylated regions (TDMs) is indispensable for understanding its role. Using restriction landmark genomic scanning of six mouse tissues, 150 putative TDMs were identified and 14 were further analyzed. The DNA sequences of the 14 mouse TDMs are analyzed in this study. Six of the human homologous regions show TDMs to both mouse and human and genes in five of these regions have conserved tissue-specific expression: preferential expression in testis. A TDM, DDX4, is further analyzed in nine testis tissues. An increase in methylation of the promoter region is significantly associated with a marked reduction of the gene expression and defects in spermatogenesis, suggesting that hypomethylation of the DDX4 promoter region regulates DDX4 gene expression in spermatogenic cells. Our results indicate that some genomic regions with tissue-specific methylation and expression are conserved between mouse and human and suggest that DNA methylation may have an important role in regulating differentiation and tissue-/cell-specific gene expression of some genes.
机译：DNA甲基化的改变与哺乳动物的发育有关。因此，识别组织特异性差异甲基化区域（TDM）对于理解其作用必不可少。使用限制性地标基因组扫描六种小鼠组织，鉴定出150种假定的TDM，并进一步分析了14种。在这项研究中分析了14个小鼠TDM的DNA序列。六个人类同源区域显示了对小鼠和人类的TDM，其中五个区域的基因保守了组织特异性表达：在睾丸中优先表达。在9个睾丸组织中进一步分析了TDM DDX4。启动子区域甲基化的增加与基因表达的显着减少和生精缺陷的发生显着相关，这表明DDX4启动子区域的甲基化不足调节生精细胞中DDX4基因的表达。我们的结果表明，一些具有组织特异性甲基化和表达的基因组区域在小鼠和人类之间是保守的，并且表明DNA甲基化可能在调节某些基因的分化和组织/细胞特异性基因表达中起重要作用。

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