The CpG dinucleotide and human genetic disease
- 1 February 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 78 (2) , 151-155
- https://doi.org/10.1007/bf00278187
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 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.Keywords
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