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Topic 9: Mutation and DNA Repair Objectives: 1. Define mutation and distinguish between types of mutations that affect the nucleotide sequence, polypeptide sequence, and phenotype. 2. Survey sources of mutation, including both spontaneous and induced, and distinguish between the types of mutations caused by these various sources. 3. Differentiate between the five major types of DNA repair and specify which types of DNA mutations are targeted by each repair mechanism.
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Big Question: Topic 9: How do mutations affect traits and how can the cell reduce the risk of mutation?
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Will a mutation be inherited? Somatic cell mutation vs. germ-line mutation And, Animals vs. Plants Fertilized egg Somatic Germ-line Trends in Genetics Volume 31, Issue 7, July 2015, Pages 382–392 3
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The timing of somatic cell mutation affects the magnitude of phenotypic effect 4
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Somatic mutations have mosaic consequences mother Proteus disease AKT gene mutation causes overgrowth of cells –here skin “Elephant man” lethal if it was in germ line and not mosaic Cancer malignant melanoma Somatic mutation from e to E allele in Golden retriever “Port wine stain” 548G→A mutation in the GNAQ gene Increases capillaries 5
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Early separation of the germ line cells reduces their mutational load. 6
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Somatic vs germ-line mutations 7
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