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Spontaneous deamination of 5-methylcytosine results in thymine and ammonia. This is the most common single nucleotide mutation. This is the most common single nucleotide mutation. In DNA, this reaction, if detected prior to passage of the replication fork, can be corrected by the enzyme thymine-DNA glycosylase , which removes the thymine base ...
This is followed by DNA polymerase β (pol β) adding a single cytosine to pair with the pre-existing guanine in the complementary strand and then DNA ligase to seal the cut strand. In long patch repair, DNA synthesis is thought to be mediated by polymerase δ and polymerase ε performing displacement synthesis to form a flap. Pol β can also ...
This underrepresentation is a consequence of the high mutation rate of methylated CpG sites: the spontaneously occurring deamination of a methylated cytosine results in a thymine, and the resulting G:T mismatched bases are often improperly resolved to A:T; whereas the deamination of unmethylated cytosine results in a uracil, which as a foreign ...
Some diseases that result from tautomerization induced DNA lesions include Kearns-Sayre syndrome, Fragile X syndrome, Kennedy disease, and Huntington's disease. [18] Cytosine deamination commonly occurs under physiological conditions and essentially is the deamination of cytosine. This process yields uracil as its product, which is not a base ...
Activation-induced cytidine deaminase, also known as AICDA, AID and single-stranded DNA cytosine deaminase, is a 24 kDa enzyme which in humans is encoded by the AICDA gene. [5] It creates mutations in DNA [6] [7] by deamination of cytosine base, which turns it into uracil (which is recognized as a thymine). In other words, it changes a C:G base ...
5-Methylcytosine is a methylated form of the DNA base cytosine (C) that regulates gene transcription and takes several other biological roles. [1] When cytosine is methylated, the DNA maintains the same sequence, but the expression of methylated genes can be altered (the study of this is part of the field of epigenetics). 5-Methylcytosine is incorporated in the nucleoside 5-methylcytidine.
Until October 2021, Cytosine had not been found in meteorites, which suggested the first strands of RNA and DNA had to look elsewhere to obtain this building block. Cytosine likely formed within some meteorite parent bodies, however did not persist within these bodies due to an effective deamination reaction into uracil. [10]
Other types of endogeneous DNA damages, given below with their frequencies of occurrence, include depurinations, depyrimidinations, double-strand breaks, O6-methylguanines, and cytosine deamination. DNA can be damaged via environmental factors as well. Environmental agents such as UV light, ionizing radiation, and genotoxic chemicals.