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Methylation of CpG Sites

  • Methylated cytosines are found primarily at CpG dinucleotides, but are also found at non-CpG sites.
    • Most 5mCs are highly conserved epigenetic marks and are mostly found at CpG sites, where 70-80% of cytosines are methylated.
    • If CpG sites located in a gene body are hypermethylated, gene expression is increased.
    • If CpG sites located in promoters or enhancers are hypermethylated, these regions cannot be bound by transcription factors, leading to trasncriptional silencing.
  • Non-CpG methylation is restricted to specific cell types.
    • e.g., pluripotent stem cells, oocytes, neurons, and glial cells.
    • Accumulation of methylation at non-CpG sites and CpG sites in neurons seems to be involved in development and disease etiology.

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Updated 2021-10-03

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