Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

17. Mutation, Repair, and Recombination

DNA Repair

Genetics

17. Mutation, Repair, and Recombination

DNA Repair

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1:54 minutes

Problem 38

Textbook Question

Considering the Dumbo mutation in Problem 37, what kinds of additional evidence would help you determine whether Dumbo is a mutation of a regulatory sequence or of a protein-coding gene?

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Analyze the location of the Dumbo mutation within the genome. If the mutation is found in a non-coding region, such as a promoter, enhancer, or other regulatory sequence, it suggests a regulatory mutation. If the mutation is located within a protein-coding region, it may affect the structure or function of the protein.

Examine the expression levels of the gene associated with the Dumbo mutation. If the mutation affects a regulatory sequence, you might observe changes in the timing, location, or overall levels of gene expression. Use techniques like quantitative PCR or RNA sequencing to measure gene expression.

Investigate the protein product of the gene. If the mutation is in a protein-coding region, it could lead to changes in the amino acid sequence, potentially altering the protein's structure or function. Perform protein analysis using methods like Western blotting or mass spectrometry to detect these changes.

Perform functional assays to test the impact of the mutation. For example, if the mutation is suspected to be in a regulatory sequence, you could use reporter gene assays to measure the activity of the regulatory element. If the mutation is in a protein-coding region, test the activity or stability of the protein in vitro or in vivo.

Use genetic complementation or rescue experiments. Introduce a wild-type copy of the gene or regulatory sequence into the organism with the Dumbo mutation. If the phenotype is rescued, this provides evidence for the role of the mutated region in causing the observed effects.

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Key Concepts

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

Regulatory Sequences

Regulatory sequences are regions of DNA that control the expression of genes. They can include promoters, enhancers, and silencers, which interact with transcription factors to increase or decrease gene expression. Understanding whether the Dumbo mutation affects these sequences can help determine if it alters gene regulation rather than the protein product itself.

Protein-Coding Genes

Protein-coding genes are segments of DNA that contain the instructions for synthesizing proteins. Mutations in these genes can lead to changes in the amino acid sequence of the resulting protein, potentially affecting its function. Identifying whether the Dumbo mutation occurs within a protein-coding region is crucial for understanding its impact on phenotype.

Functional Evidence

Functional evidence refers to experimental data that demonstrate the effects of a mutation on gene expression or protein function. This can include assays like reporter gene studies, RNA sequencing, or protein assays. Gathering such evidence can clarify whether the Dumbo mutation influences regulatory mechanisms or directly alters protein coding.

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Textbook Question

A geneticist searching for mutations uses the restriction endonucleases SmaI and PvuII to search for mutations that eliminate restriction sites. SmaI will not cleave DNA with CpG methylation. It cleaves DNA at the restriction digestion sequence ↓ 5′−CCC GGG−3′ 3′−GGG CCC−3′ ↑ PvuII is not sensitive to CpG methylation. It cleaves DNA at the restriction sequence ↓ 5′−CAG CTG−3′ 3′−GTC GAC−5′ ↑ Explain why CpG dinucleotides are hotspots of mutation.

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Textbook Question

A geneticist searching for mutations uses the restriction endonucleases SmaI and PvuII to search for mutations that eliminate restriction sites. SmaI will not cleave DNA with CpG methylation. It cleaves DNA at the restriction digestion sequence ↓ 5′−CCC GGG−3′ 3′−GGG CCC−3′ ↑ PvuII is not sensitive to CpG methylation. It cleaves DNA at the restriction sequence ↓ 5′−CAG CTG−3′ 3′−GTC GAC−5′ ↑ What process is the researcher intending to detect with the use of these restriction enzymes?

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Textbook Question

A geneticist searching for mutations uses the restriction endonucleases SmaI and PvuII to search for mutations that eliminate restriction sites. SmaI will not cleave DNA with CpG methylation. It cleaves DNA at the restriction digestion sequence ↓ 5′−CCC GGG−3′ 3′−GGG CCC−3′ ↑ PvuII is not sensitive to CpG methylation. It cleaves DNA at the restriction sequence ↓ 5′−CAG CTG−3′ 3′−GTC GAC−5′ ↑ What common feature do SmaI and PvuII share that would be useful to a researcher searching for mutations that disrupt restriction digestion?

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Textbook Question

In a mouse-breeding experiment a new mutation called Dumbo is identified. A mouse with the Dumbo mutation has very large ears. It is produced by two parental mice with normal ear size. Based on this information, can you tell whether the Dumbo mutation is a regulatory mutation or a mutation of a protein-coding gene? Why or why not?

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Textbook Question

Thinking back to the discussion of gain-of-function and loss-of-function mutations, explain why gain-of-function mutations are often dominant and why loss-of-function mutations are often recessive. Give an example of a type of gain-of-function mutation that is dominant and of a loss-of-function mutation that is recessive.

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Multiple Choice

What is the likely consequence when cells are unable to repair DNA damage caused by a mutagen?

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Multiple Choice

Which process helps to preserve the genetic information stored in DNA during DNA replication?

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Multiple Choice

Which enzyme hydrolyzes DNA during isolation, potentially degrading the DNA sample?

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