DNA methylation is an heritable epigenetic mark regulated by DNA methyltransferases (DNMTs), consisting in the transfer of a methyl group onto the C5 position of a cytosine. Through this process, DNA methylation is involved in many processes like regulation of gene expression, silencing of transposable elements, genomic imprinting, and X-chromosome inactivation. It can notably explain why, even if all the cells of the organism have the same genetic information, the gene expression profile is not the same for all cell types.
In mammal somatic cells, this epigenetic mark is mainly located on cytosine at CpG sites and essential for many processes like normal development or cell differentiation. Global DNA hypomethylation profile with localised hypermethylation sites (like tumor suppressor gene promoters) are closely associated to cancer. Studying the methylation status of key sequences can help us to understand these mechanisms.
For the analysis of DNA methylation, required bisulfite treatment of DNA turn all non-methylated cytosines into uracils, which become thymidines after PCR amplification. So, the remaining percent of cytosine will be representative of the methylation percentage for a given position of DNA.
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