The CpG dinucleotide and human genetic disease.
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.
Cooper
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Haematology Department, King's College School of Medicine and Dentistry, London, UK.
Youssoufian
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H
D044503:5-Methylcytosine; D003062:Codon; D003568:Cytidine Monophosphate / Q000031:analogs & derivatives / Q000235:genetics*; D003596:Cytosine / Q000031:analogs & derivatives / Q000032:analysis; D003597:Cytosine Nucleotides / Q000235:genetics*; D004247:DNA / Q000235:genetics; D015226:Dinucleoside Phosphates; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006151:Guanosine / Q000031:analogs & derivatives* / Q000235:genetics; D006801:Humans; D008745:Methylation; D009154:Mutation
D044503:5-Methylcytosine; D003062:Codon; D003568:Cytidine Monophosphate; D003596:Cytosine; D003597:Cytosine Nucleotides; D004247:DNA; D015226:Dinucleoside Phosphates; D006151:Guanosine; C015772:CpG dinucleotide