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Ch. 15 - Gene Mutation, DNA Repair, and Transposition
Chapter 15, Problem 3

What is a spontaneous mutation, and why are spontaneous mutations rare?

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A spontaneous mutation is a change in the DNA sequence that occurs without any external influence, such as radiation or chemicals.
These mutations can arise from errors during DNA replication, spontaneous lesions, or the movement of transposable elements.
DNA replication errors occur when DNA polymerase incorporates incorrect nucleotides, although proofreading mechanisms usually correct these errors.
Spontaneous lesions can result from the natural chemical instability of DNA, leading to depurination or deamination events.
Spontaneous mutations are rare because cells have evolved multiple repair mechanisms, such as mismatch repair and base excision repair, to correct these errors and maintain genetic stability.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Spontaneous Mutation

A spontaneous mutation is a change in the DNA sequence that occurs naturally without external influence, often due to errors in DNA replication or repair. These mutations can lead to alterations in gene function, which may affect an organism's traits. They are a source of genetic diversity and can contribute to evolution over time.
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DNA Replication Fidelity

DNA replication fidelity refers to the accuracy with which DNA is copied during cell division. High fidelity is maintained by various proofreading mechanisms, such as DNA polymerases that correct errors. This high level of accuracy is crucial for minimizing spontaneous mutations, making them relatively rare in healthy organisms.
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Environmental Factors and Mutation Rates

While spontaneous mutations occur naturally, their rates can be influenced by environmental factors such as radiation, chemicals, and biological agents. These external factors can increase the likelihood of mutations, but spontaneous mutations themselves are rare due to the robust cellular mechanisms that repair DNA and maintain genetic integrity.
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Related Practice
Textbook Question
Write a short essay contrasting how these concepts may differ between bacteria and eukaryotes.
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Textbook Question

Price et al. [(1999). J. Bacteriol. 181:2358–2362] conducted a genetic study of the toxin transport protein (PA) of Bacillus anthracis, the bacterium that causes anthrax in humans. Within the 2294-nucleotide gene in 26 strains they identified five point mutations—two missense and three synonyms—among different isolates. Necropsy samples from an anthrax outbreak in 1979 revealed a novel missense mutation and five unique nucleotide changes among ten victims. The authors concluded that these data indicate little or no horizontal transfer between different B. anthracis strains.

Which types of nucleotide changes (missense or synonyms) cause amino acid changes?

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Textbook Question

Price et al. [(1999). J. Bacteriol. 181:2358–2362] conducted a genetic study of the toxin transport protein (PA) of Bacillus anthracis, the bacterium that causes anthrax in humans. Within the 2294-nucleotide gene in 26 strains they identified five point mutations—two missense and three synonyms—among different isolates. Necropsy samples from an anthrax outbreak in 1979 revealed a novel missense mutation and five unique nucleotide changes among ten victims. The authors concluded that these data indicate little or no horizontal transfer between different B. anthracis strains.

On what basis did the authors conclude that evidence of horizontal transfer is absent from their data?

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Textbook Question

Why would a mutation in a somatic cell of a multicellular organism not necessarily result in a detectable phenotype?

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Textbook Question

Most mutations are thought to be deleterious. Why, then, is it reasonable to state that mutations are essential to the evolutionary process?

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Textbook Question

Why is a random mutation more likely to be deleterious than beneficial?

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