Abstract
Spontaneous deamination converts cytosine to uracil, which is excised from DNA by the enzyme uracil-DNA glycosylase, leading to error-free repair. 5-Methylcytosine residues are deaminated to thymine, which cannot be excised and repaired by this system. As a result, 5-methylcytosine residues are hotspots for spontaneous transitions, as demonstrated in the lacI gene of Escherichia coli. We show here that in bacteria which lack uracil-DNA glycosylase (Ung−) and cannot excise uracil residues from DNA, the rate of spontaneous transition at cytosine residues is raised to the hotspot rate at 5-methylcytosine residues. These studies provide direct evidence that the deamination of cytosine is a significant source of spontaneous mutations.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Lindahl, T. & Nyberg, B. Biochemistry 13, 3405–3410 (1974).
Lindahl, T. Proc. natn. Acad. Sci. U.S.A. 71, 3649–3653 (1974).
Tye, B. K., Chien, J., Lehman, I. R., Duncan, B. K. & Warner, H. R. Proc. natn. Acad. Sci. U.S.A. 75, 233–237 (1978).
Duncan, B. K., Rockstroh, P. A. & Warner, H. R. J. Bact. 134, 1039–1045 (1978).
Duncan, B. K. & Weiss, B. in DNA Repair Mechanisms (eds Hanawalt, P. C., Friedberg, E. C. & Fox, C. F.) 183–186 (Academic, New York, 1978).
Coulondre, C., Miller, J. H., Farabaugh, P. J. & Gilbert, W. Nature 274, 775–780 (1978).
Miller, J. H., Ganem, D., Lu, P. & Schimitz, A. J. molec. Biol. 109, 275–302 (1977).
Coulondre, C. & Miller, J. H. J. molec. Biol. 117, 577–606 (1977).
Lindahl, T. Prog. Nucleic Acids Res. molec. Biol. 22, 135–192 (1979).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Duncan, B., Miller, J. Mutagenic deamination of cytosine residues in DNA. Nature 287, 560–561 (1980). https://doi.org/10.1038/287560a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/287560a0
- Springer Nature Limited
This article is cited by
-
Genic constraint against nonsynonymous variation across the mouse genome
BMC Genomics (2023)
-
Intragenomic rDNA variation - the product of concerted evolution, mutation, or something in between?
Heredity (2023)
-
Multiple myeloma, a quintessential malignant disease of aging: a geroscience perspective on pathogenesis and treatment
GeroScience (2023)
-
Transposable elements maintain genome-wide heterozygosity in inbred populations
Nature Communications (2022)
-
The association between family history and genomic burden with schizophrenia mortality: a Swedish population-based register and genetic sample study
Translational Psychiatry (2021)