Mutation


Video Clips

Video RealVideo®
5:48 minutes (38:12 - 44:00)

A single abnormal progenitor cell can form a tumor. Compare growth pattern of normal cells in monolayers and cancerous cells in multiple layers.

Instructors: Prof. Eric Lander, Prof. Robert Weinberg, Dr. Claudette Gardel
Prior Knowledge: Cell cycle
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Video RealVideo®
5:17 minutes (44:00 - 49:17)

Mutations in the genes that regulate cell cycle and division can cause cancer. Mutations in somatic cells arise spontaneously or from exposure to chemical mutagens.

Instructors: Prof. Eric Lander, Prof. Robert Weinberg, Dr. Claudette Gardel
Prior Knowledge: Cell cycle; Mutations
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Video RealVideo®
4:07 minutes (1:39 - 5:46)

There is a correlation between mutagens that induce mutations and carcinogens that induce tumor formation.

Instructors: Prof. Eric Lander, Prof. Robert Weinberg, Dr. Claudette Gardel
Prior Knowledge: Mutations
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Video RealVideo®
10:09 minutes (3:00 - 13:09)

Definitions and examples: Mutant, phenotype, conditional phenotype, genotype, diploid, and genes.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Video RealVideo®
4:45 minutes (13:09 - 17:54)

Use of genetic mutants to link mutation to function. Introduce bacterial culture, minimal media, supplemented media, and accumulation of intermediates.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Video RealVideo®
8:38 minutes (24:22 - 33:00)

Complementation test determines whether two mutations lie within the same gene. Use of temperature sensitive phage mutants. Recessive mutants with mutations in different genes can rescue each other by complementation.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: Bacteriophage
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Video RealVideo®
13:38 minutes (33:00 - 46:38)

Recombination can rescue two single mutants. Recombination frequency can be measured.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: Bacteriophage
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Audio Clip

Audio RealAudio®
6:43 minutes (43:45 - 50:28)

Examples of genotype and phenotype. Mutations can change the amount or the sequence of the protein. Types of mutations: Nonsense, silent, missense/point, and frameshift.

Instructors: Prof. Tyler Jacks, Prof. Hazel Sive
Prior Knowledge: DNA
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Lecture Notes

Document PDF
Page 2

Definition and importance of mutants in genetic studies.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Page 3 to page 7

Yeast as a model organism. Techniques and experiments used in the making, identifying, and characterizing yeast mutants. Test of Recessivity, Complementation Test and Epistasis Test.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Page 8

Brief explanation of the use of temperature sensitive mutants to study essential genes.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Practice Problems

Document PDF
Problem 1 (page 1)

Products of transcription and translation. DNA mutations that affect the protein product.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Problem 2 (page 2)

Products of transcription and translation. tRNA mutations that affect the protein product. Comparison between bacterial and human genes.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Problem 4 (page 6)

Mutations in stem cells leading to abnormal hemoglobin and sickle cell anemia.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Problem A (page 1)

Definition and generation of mutants for genetic studies.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Problem B (page 1)

Steps and requirements to clone a functional gene by growing mutant yeasts in various mediums.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Exam Questions

Document PDF
Problem 2 (page 4)

Effect of different types of mutations on protein binding site.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Problems 1g-1j (page 3)

Analysis using gel electrophoresis. Mutations leading to changes in side chains that affect the function of the protein.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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Document PDF
Problems 2f-2i (page 5)

Effect of mutations in the gene and tRNAs on the protein product.

Instructors: Prof. Penny Chisholm, Prof. Graham Walker, Dr. Julia Khodor, Dr. Michelle Mischke
Prior Knowledge: None
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