The CpG dinucleotide and human genetic disease.

Hum Genet 1988 Feb;78(2):151-5

Haematology Department, King's College School of Medicine and Dentistry, London, UK.

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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http://dx.doi.org/10.1007/BF00278187DOI Listing
February 1988

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