Through time the DNA of a cell may accumulate some errors. These errors can range in severity. These errors are known as
Mutations, and can range from a substitution of one base to the deletion of several bases. This can lead to the formation of a non-functional protein. In extreme cases this may lead to disease, Cystic Fibrosis is caused by a deletion mutation which leads to a faulty CFTR gene and all associated symptoms of Cystic Fibrosis. This is illustrative of how important it is that DNA is replicated correctly in both germ cells and somatic cells. Mutations can arise as a result of exposure to certain chemicals such as ionizing radiation or UV light.
A common point mutation arises from the
deamination of cytosine to form uracil.To avoid such mutations, cells have evolved and a DNA repair mechanism has been enforced. The errors are found through proofreading.
DNA Polymerase 3’à5’ exonuclease activity proof-reads the DNA and finds mis-paired bases. (Note that this proofreading mechanism is reading in the opposite direction to the DNA). A DNA excision repair system detects a defect and removes the damaged section of DNA. The gap is then filled with DNA Polymerase and DNA Ligase. The Polymerase forms complementary DNA to the remaining undamaged strand of DNA.
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