Although CpG dinucleotides occur rather infrequently in mammalian genomes (approximately one-fourth the expected frequency), DNA segments abundant with CpG dinucleotides do exist. Called CpG islands, these segments are typically 500-2000 base pair long and commonly correspond to transcription start sites. CpG dinucleotides occurring within promoters or first exons are much less likely to be methylated compared to those appearing elsewhere. DNA methylation studies have come into prominence, in part, because of expectations that CpG islands occurring in promoter regions are likely to play a regulatory role.
In higher eukaryotes DNA methylation acts as another method for the regulation of gene expression (Costello and Plass, 2001). Aberrant methylation is a widespread phenomenon in cancer and may be among the earliest changes to occur during oncogenesis (Stirzaker, et al., 1997). DNA methylation has also been shown to play a central role in gene imprinting, embryonic development, x-chromosome gene silencing, and cell cycle regulation.
Current Topics in DNA Methylation Research
DNA Methylation Analysis Workflow
Costello, JF. and Plass, C. Methylation Matters. Journal of Medical Genetics. 2001; 38: 285-303.
Frommer, M., et. al. A Genomic Sequencing Protocol that Yields a Positive Display of 5-methylcytosine Residues in Individual DNA Strands. Proceeding of the National Academy Science. 1992; 89: 1827-1831.
Stirzaker, C., et.al. Extensive DNA Methylation Spanning the Rb Promoter in Retinoblastoma Tumors. Cancer Research. 1997; 57: 2229-2237.