ИСТИНА

A cytosine followed by a guanine (CG) is the most known example of a nucleotide word within the human genome with a dramatically increased probability to undergo mutation. Specific DNA methyltransferase enzymes convert cytosines in CG dinucleotides into methyl-cytosines, which are eventually prone to turn into thymine as a result of deamination. The discovery of other nucleotide contexts that have profound effects on substitution rates can improve our understanding of mutation processes. We compared rates of inherited mutations in 1-4bp nucleotide contexts using reconstructed ancestral states of human single nucleotide polymorphisms (SNPs) from intergenic regions. Chimp and orangutan genomic sequences were used for the purpose of outgroups.