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The CpG dinucleotide and human genetic disease

Cooper, David Neil and Youssoufian, Hagop 1988. The CpG dinucleotide and human genetic disease. Human Genetics 78 (2) , pp. 151-155. 10.1007/BF00278187

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Springer
ISSN: 0340-6717
Last Modified: 04 Jun 2017 06:33

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