CpG islands -'a rough guide'

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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.
Original languageEnglish
Pages (from-to)1713-20
Number of pages8
JournalFEBS Letters
Issue number11
Publication statusPublished - 5 Jun 2009


  • CpG Islands
  • DNA Methylation
  • Gene Silencing
  • Genomic Imprinting
  • Humans
  • Promoter Regions, Genetic
  • X Chromosome Inactivation


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