Abstract

Mammalian genomes are punctuated by DNA sequences containing an atypically high frequency of CpG sites termed CpG islands (CGIs). CGIs generally lack DNA methylation and associate with the majority of annotated gene promoters. Many studies, however, have identified examples of CGI methylation in malignant cells, leading to improper gene silencing. CGI methylation also occurs in normal tissues and is known to function in X‐inactivation and genomic imprinting. More recently, differential methylation has been shown between tissues, suggesting a potential role in transcriptional regulation during cell specification. Many of these tissue‐specific methylated CGIs localise to regions distal to promoters, the regulatory function of which remains to be determined.

Keywords

CpG siteDNA methylationBiologyPromoterEpigenetics of physical exerciseMethylationGene silencingGenomic imprintingGeneGeneticsDifferentially methylated regionsGenomeMolecular biologyCell biologyGene expression

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Year
2009
Type
review
Volume
583
Issue
11
Pages
1713-1720
Citations
873
Access
Closed

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Robert S. Illingworth, Adrian Bird (2009). CpG islands – ‘A rough guide’. FEBS Letters , 583 (11) , 1713-1720. https://doi.org/10.1016/j.febslet.2009.04.012

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DOI
10.1016/j.febslet.2009.04.012