The CpG dinucleotide and human genetic disease

  title={The CpG dinucleotide and human genetic disease},
  author={David N. Cooper and Hagop Youssoufian},
  journal={Human Genetics},
Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C → T or G → A transitions, which thus occur within coding regions at a frequency 42-fold higher than that predicted from random mutation. These findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA… CONTINUE READING

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