Shen Lanlan, Kondo Yutaka, Guo Yi, Zhang Jiexin, Zhang Li, Ahmed Saira, Shu Jingmin, Chen Xinli, Waterland Robert A, Issa Jean-Pierre J
Department of Leukemia, The University of Texas at M. D. Anderson Cancer Center, Houston, Texas, USA.
PLoS Genet. 2007 Oct;3(10):2023-36. doi: 10.1371/journal.pgen.0030181. Epub 2007 Sep 10.
The role of CpG island methylation in normal development and cell differentiation is of keen interest, but remains poorly understood. We performed comprehensive DNA methylation profiling of promoter regions in normal peripheral blood by methylated CpG island amplification in combination with microarrays. This technique allowed us to simultaneously determine the methylation status of 6,177 genes, 92% of which include dense CpG islands. Among these 5,549 autosomal genes with dense CpG island promoters, we have identified 4.0% genes that are nearly completely methylated in normal blood, providing another exception to the general rule that CpG island methylation in normal tissue is limited to X inactivation and imprinted genes. We examined seven genes in detail, including ANKRD30A, FLJ40201, INSL6, SOHLH2, FTMT, C12orf12, and DPPA5. Dense promoter CpG island methylation and gene silencing were found in normal tissues studied except testis and sperm. In both tissues, bisulfite cloning and sequencing identified cells carrying unmethylated alleles. Interestingly, hypomethylation of several genes was associated with gene activation in cancer. Furthermore, reactivation of silenced genes could be induced after treatment with a DNA demethylating agent or in a cell line lacking DNMT1 and/or DNMT3b. Sequence analysis identified five motifs significantly enriched in this class of genes, suggesting that cis-regulatory elements may facilitate preferential methylation at these promoter CpG islands. We have identified a group of non-X-linked bona fide promoter CpG islands that are densely methylated in normal somatic tissues, escape methylation in germline cells, and for which DNA methylation is a primary mechanism of tissue-specific gene silencing.
CpG岛甲基化在正常发育和细胞分化中的作用备受关注,但仍了解甚少。我们通过甲基化CpG岛扩增结合微阵列技术,对正常外周血启动子区域进行了全面的DNA甲基化分析。该技术使我们能够同时确定6177个基因的甲基化状态,其中92%包含密集的CpG岛。在这些具有密集CpG岛启动子的5549个常染色体基因中,我们发现4.0%的基因在正常血液中几乎完全甲基化,这为正常组织中CpG岛甲基化仅限于X染色体失活和印记基因这一普遍规律提供了另一个例外。我们详细研究了7个基因,包括ANKRD30A、FLJ40201、INSL6、SOHLH2、FTMT、C12orf12和DPPA5。除睾丸和精子外,在所研究的正常组织中均发现了密集的启动子CpG岛甲基化和基因沉默。在这两种组织中,亚硫酸氢盐克隆和测序鉴定出携带未甲基化等位基因的细胞。有趣的是,几个基因的低甲基化与癌症中的基因激活有关。此外,用DNA去甲基化剂处理或在缺乏DNMT1和/或DNMT3b的细胞系中,可诱导沉默基因的重新激活。序列分析确定了在这类基因中显著富集的五个基序,表明顺式调控元件可能促进这些启动子CpG岛的优先甲基化。我们已经鉴定出一组非X连锁的真正启动子CpG岛,它们在正常体细胞组织中高度甲基化,在生殖细胞中逃避甲基化,并且DNA甲基化是组织特异性基因沉默的主要机制。
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