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Ch. 14 - Gene Mutation, DNA Repair, and Transposition
Klug - Essentials of Genetics 10th Edition
Klug10th EditionEssentials of GeneticsISBN: 9780135588789Non è quello che usi tu?Cambia libro di testo
Capitolo 14, Problema 9

Describe a tautomeric shift and how it may lead to a mutation.

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Define a tautomeric shift as a spontaneous chemical change in the structure of a nucleotide base, where the base temporarily changes to an alternative form called a tautomer. This involves the repositioning of protons and electrons, altering the hydrogen bonding properties of the base.
Explain that the common tautomeric shifts occur in the bases adenine, cytosine, guanine, and thymine, causing them to pair incorrectly during DNA replication. For example, a keto form might shift to an enol form, changing its base-pairing preference.
Describe how during DNA replication, if a base is in its rare tautomeric form, it can pair with the wrong complementary base (e.g., thymine in its enol form pairing with guanine instead of adenine).
Illustrate that this mispairing leads to the incorporation of an incorrect nucleotide in the newly synthesized strand, which, if not corrected by DNA repair mechanisms, becomes a permanent mutation after the next round of replication.
Summarize that tautomeric shifts are a source of spontaneous point mutations because they cause transient mispairing that can be fixed into the DNA sequence, potentially altering the genetic code.

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Tautomeric Shift

A tautomeric shift is a spontaneous chemical change in the structure of a nucleotide base, where it temporarily converts to an alternative form (tautomer) with different hydrogen bonding properties. This shift can alter base pairing during DNA replication, leading to mismatches.
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Spontaneous Mutations

Base Pairing and DNA Replication

During DNA replication, bases pair specifically (A with T, G with C). If a base undergoes a tautomeric shift, it may pair incorrectly, causing the DNA polymerase to incorporate the wrong nucleotide, which can result in a permanent mutation after subsequent replications.
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Steps to DNA Replication

Mutation Formation

Mutations arise when incorrect base pairing caused by tautomeric shifts is not corrected by DNA repair mechanisms. These mismatches become fixed in the DNA sequence after replication, potentially altering gene function or regulation.
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Mutations and Phenotypes