The majority of pathogenic (disease-causing) mutations result from G:C > T:A transition mutations, where the C is changed to a T. Explain why this type of mutation is so prevalent, and explain why it is NOT (or very rarely) observed near the promotor regions of actively transcribed genes?
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G:C > T:A transition mutations are prevalent because cytosine can undergo spontaneous deamination, which converts it into uracil. Uracil pairs with adenine during DNA replication, leading to the incorporation of a thymine instead of cytosine in the newly Show more…
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