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William S. Klug Michael R. Cummings Charlotte A. Spencer Concepts of Genetics Eighth Edition Chapter 15 Gene Mutation, DNA Repair, and Transposition Copyright © 2006 Pearson Prentice Hall, Inc.
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What’s a mutation?
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Mutations Are Classified in Various Ways Spontaneous, Induced, and Adaptive Mutations
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Table 15-1 Copyright © 2006 Pearson Prentice Hall, Inc.
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Classifcation as somatic, germline, autosomal, X-linked, recessive, dominant “haploinsufficiency”
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Classification Based on Phenotypic Effects Loss-of-function Gain-of-function Morphological Nutritional Behavioral Lethal Conditional
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The Spontaneous Mutation Rate Varies Greatly among Organisms Deleterious Mutations in Humans
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Table 15-2 Copyright © 2006 Pearson Prentice Hall, Inc.
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Molecular nature of mutations Figure 15-1 Copyright © 2006 Pearson Prentice Hall, Inc. base substitution transition transversion
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Spontaneous (and induced) Mutations Arise from Replication Errors and Base Modifications DNA Replication Errors Replication Slippage Tautomeric Shifts
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Figure 15-2 Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-2a Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-2b Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-3 Copyright © 2006 Pearson Prentice Hall, Inc.
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Damage versus mutation
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Depurination and Deamination
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Figure 15-4 Copyright © 2006 Pearson Prentice Hall, Inc.
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Oxidative Damage
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Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Base Analogs
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Figure 15-5 Copyright © 2006 Pearson Prentice Hall, Inc.
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Alkylating Agents
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Figure 15-6 Copyright © 2006 Pearson Prentice Hall, Inc.
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Table 15-3 Copyright © 2006 Pearson Prentice Hall, Inc. crosslinks
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Acridine Dyes and Frameshift Mutations Intercalating agents
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Figure 15-7 Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-8 Copyright © 2006 Pearson Prentice Hall, Inc. Radiation can induce mutations
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Ultraviolet Light and Thymine Dimers
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Figure 15-9 Copyright © 2006 Pearson Prentice Hall, Inc.
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Ionizing Radiation
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Figure 15-10 Copyright © 2006 Pearson Prentice Hall, Inc.
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Trinucleotide Repeats in Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease “Dynamic mutations” Genetic anticipation
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Table 15-4 Copyright © 2006 Pearson Prentice Hall, Inc.
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Cleary and Pearson (2005) Trends in Genetics 21:272-280
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Genetic Techniques, Cell Cultures, and Pedigree Analysis Are All Used to Detect Mutations Detection in Bacteria and Fungi Detection in Plants Detection in Humans
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Figure 15-11 Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-12 Copyright © 2006 Pearson Prentice Hall, Inc.
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The Ames Test Is Used to Assess the Mutagenicity of Compounds
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Figure 15-13 Copyright © 2006 Pearson Prentice Hall, Inc.
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Organisms Use DNA Repair Systems to Counteract Mutations Proofreading and Mismatch Repair Postreplication Repair SOS Response
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Figure 15-14 Copyright © 2006 Pearson Prentice Hall, Inc. This is not repair! It is an example of damage tolerance.
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SOS Response http://www.science.siu.edu/microbiology/micr460/460%20Pages/SOS.html Pol V is induced and is error-prone.
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Photoreactivation Repair: Reversal of UV Damage in Prokaryotes
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Figure 15-15 Copyright © 2006 Pearson Prentice Hall, Inc.
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Base and Nucleotide Excision Repair
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Figure 15-16 Copyright © 2006 Pearson Prentice Hall, Inc. Note: the sugar-phosphate residue must be removed. This is believed to be accomplished by DNA pol β. β
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Figure 15-17 Copyright © 2006 Pearson Prentice Hall, Inc.
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Xeroderma Pigmentosum and Nucleotide Excision Repair in Humans Also—defects in pol (eta)
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Figure 15-18 Copyright © 2006 Pearson Prentice Hall, Inc.
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Double-Strand Break Repair in Eukaryotes Homologous recombinational repair (HR, HDR) Nonhomologous endjoining (NHEJ) (particularly active in S/G2) (particularly active in G1)
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Transposable Elements Move within the Genome and May Disrupt Genetic Function Insertion Sequences
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Figure 15-19 Copyright © 2006 Pearson Prentice Hall, Inc.
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Bacterial Transposons Often carry genes encoding antibiotic resistance.
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Figure 15-20 Copyright © 2006 Pearson Prentice Hall, Inc.
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The Ac–Ds System in Maize
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Figure 15-22 Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-22a Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-22b Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-22c Copyright © 2006 Pearson Prentice Hall, Inc.
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Figure 15-23 Copyright © 2006 Pearson Prentice Hall, Inc.
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Breakage-fusion-bridge cycle www.biologie.uni-hamburg.de/b-online/ge21/18.jpg
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Mobile Genetic Elements and Wrinkled Peas: Mendel Revisited
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Copia Elements in Drosophila
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Figure 15-24 Copyright © 2006 Pearson Prentice Hall, Inc.
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P Element Transposons in Drosophila Transposable Elements in Humans (transpose in germ line) LINES and SINES 50% of genome is comprised of transposons
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