The CpG dinucleotide and human genetic disease
DN Cooper, H Youssoufian - Human genetics, 1988 - Springer
DN Cooper, H Youssoufian
Human genetics, 1988•SpringerReports 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 within coding regions may contribute …
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 within coding regions may contribute …
Summary
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 within coding regions may contribute significantly to the incidence of human genetic disease.
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