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  • Title: The CpG dinucleotide and human genetic disease.
    Author: Cooper DN, Youssoufian H.
    Journal: Hum Genet; 1988 Feb; 78(2):151-5. PubMed ID: 3338800.
    Abstract:
    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 mutations. These findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA within coding regions may contribute significantly to the incidence of human genetic disease.
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