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The CpG dinucleotide and human genetic disease (1988)

Cooper, David N. ; Youssoufian, Hagop

Springer

Human genetics 〈Berlin〉 78 (1988), S. 151-155

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00278187

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