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Ch. 11 - Gene Mutation, DNA Repair, and Homologous Recombination
Chapter 11, Problem 3

What is the difference between a transition mutation and a transversion mutation?

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Understand that mutations are changes in the DNA sequence, and they can be classified based on the type of nucleotide change.
Recognize that a transition mutation is a type of point mutation where a purine is replaced with another purine (A ↔ G) or a pyrimidine is replaced with another pyrimidine (C ↔ T).
Identify that a transversion mutation is another type of point mutation where a purine is replaced with a pyrimidine or vice versa (A or G ↔ C or T).
Note that transitions are more common than transversions because they involve less drastic changes in the DNA structure.
Consider the implications of these mutations: transitions may have less impact on the protein function compared to transversions, which can lead to more significant changes in the amino acid sequence.

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Key Concepts

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

Transition Mutation

A transition mutation is a type of point mutation where a purine base (adenine or guanine) is replaced by another purine, or a pyrimidine base (cytosine or thymine) is replaced by another pyrimidine. This type of mutation is more common than transversion mutations and often has less impact on the protein structure, as it maintains the same class of nucleotide.
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Transversion Mutation

A transversion mutation is another type of point mutation, but it involves the substitution of a purine for a pyrimidine or vice versa. This means that adenine or guanine can be replaced by cytosine or thymine, leading to a more significant change in the DNA sequence. Transversions are less frequent than transitions and can have a greater impact on the resulting protein.
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Impact on Protein Function

Both transition and transversion mutations can affect protein function, but their impacts can vary. Transition mutations are often less disruptive due to the preservation of the nucleotide class, while transversions can lead to more drastic changes in amino acid sequences, potentially altering protein structure and function. Understanding these differences is crucial for predicting the effects of mutations in genetic studies.
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Related Practice
Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Look up cystic fibrosis (CF), OMIM 602421, and give the gene name and abbreviation and the chromosome location of the gene.

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Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Molecular Genetics' section and describe the most common mutation of the CF gene.

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Textbook Question

Nitrous acid and 5-bromodeoxyuracil (BrdU) alter DNA by different mechanisms. What type of mutation does each compound produce?

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Textbook Question
When working on barley plants, two researchers independently identify a short-plant mutation and develop homozygous recessive lines of short plants. Careful measurements of the height of mutant short plants versus normal tall plants indicate that the two mutant lines have the same height. How would you determine if these two mutant lines carry mutation of the same gene or of different genes?
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Textbook Question

For the retinal cancer retinoblastoma, the inheritance of one mutated copy of RB1 from one of the parents is often referred to as a mutation that produces a 'dominant predisposition to cancer.' This means that the first mutation does not produce cancer but makes it very likely that cancer will develop.

Explain why cancer is almost certain to develop with the inheritance of one mutated copy of RB1.

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Textbook Question

What are the differences between a synonymous mutation, a missense mutation, and a nonsense mutation?

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