Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 78 (2), 151-5

The CpG Dinucleotide and Human Genetic Disease

Affiliations

The CpG Dinucleotide and Human Genetic Disease

D N Cooper et al. Hum Genet.

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 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.

Similar articles

See all similar articles

Cited by 280 PubMed Central articles

See all "Cited by" articles

References

    1. J Biol Chem. 1985 Oct 15;260(23):12810-4 - PubMed
    1. EMBO J. 1986 Jan;5(1):113-9 - PubMed
    1. Hum Genet. 1983;64(4):315-33 - PubMed
    1. Nucleic Acids Res. 1980 Apr 11;8(7):1499-504 - PubMed
    1. J Mol Evol. 1977 Apr 29;9(2):159-80 - PubMed

LinkOut - more resources

Feedback