Presence of 5-methylcytosine in CpNpG trinucleotides in the human genome.

摘要: While the methylation machinery of mammalian cells has been shown to be capable both maintenance and de novo at CpNpG sites, in human genome not demonstrated. Here, we report first observation 5-methylcytosines triplets genome. We identify existence a number genes which contain trinucleotide repeat regions, including androgen receptor (AR). further analyzed DNA extracted from primary tissue samples found same pattern methylation. To confirm our results, performed Southern blot analysis by analyzing cleavage sites restriction enzymes within exon 1 AR gene direct evidence presence 5mCs Our results also suggest that this may due methyltransferases DNMT1 DNMT3A. Although functional significance needs tested further, discovery inheritable have important implications understanding regulation development various diseases, cancer.