Copyright © 2009 Pearson Education, Inc. Chapter 15 Lecture Concepts of Genetics Tenth Edition Gene Mutation, DNA Repair, and Transposition
Copyright © 2009 Pearson Education, Inc. What’s a mutation?
Copyright © 2009 Pearson Education, Inc. 15.1Mutations Are Classified in Various Ways Spontaneous and Induced Mutations The Luria-Delbruck Fluctuation Test: Are Mutations Spontaneous or Adaptive? Hypothesis 1: Adaptive Mutation. Hypothesis 2: Spontaneous Mutation.
Copyright © 2009 Pearson Education, Inc. Table 15.2
Copyright © 2009 Pearson Education, Inc. 15.1Mutations Are Classified in Various Ways Classification Based on Location of Mutation Somatic, germline, autosomal, X-linked
Copyright © 2009 Pearson Education, Inc. Mutations are also classified as dominant versus recessive “Haploinsufficiency” also is seen.
Copyright © 2009 Pearson Education, Inc. 15.1Mutations Are Classified in Various Ways Classification Based on Phenotypic Effects Loss-of-function Gain-of-function Morphological Nutritional Behavioral Lethal Conditional
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Figure 15.1 Classification Based on Type of Molecular Change base substitution transition transversion
Copyright © 2009 Pearson Education, Inc. 15.2Spontaneous Mutations Arise from Replication Errors and Base Modifications DNA Replication Errors Replication Slippage Tautomeric Shifts
Copyright © 2009 Pearson Education, Inc. Figure 15.2
Copyright © 2009 Pearson Education, Inc. Figure 15.2a
Copyright © 2009 Pearson Education, Inc. Figure 15.2b
Copyright © 2009 Pearson Education, Inc. Figure 15.3
Copyright © 2009 Pearson Education, Inc. Damage versus mutation
Copyright © 2009 Pearson Education, Inc. 15.2Spontaneous Mutations Arise from Replication Errors and Base Modifications Depurination and Deamination
Copyright © 2009 Pearson Education, Inc. Figure 15.4 Deamination
Copyright © 2009 Pearson Education, Inc. 15.2Spontaneous Mutations Arise from Replication Errors and Base Modifications Oxidative Damage Transposons
Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Base Analogs
Copyright © 2009 Pearson Education, Inc. Figure 15.5
Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Alkylating Agents and Acridine Dyes
Copyright © 2009 Pearson Education, Inc. Figure 15.6 Example of alkylation
Copyright © 2009 Pearson Education, Inc. crosslinks
Copyright © 2009 Pearson Education, Inc. Acridine Dyes and Frameshift Mutations Intercalating agents
Copyright © 2009 Pearson Education, Inc. A couple of intercalating agents
Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Ultraviolet Light
Copyright © 2009 Pearson Education, Inc. Figure 15.7
Copyright © 2009 Pearson Education, Inc. Figure 15.8
Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Ionizing Radiation
Copyright © 2009 Pearson Education, Inc. Figure 15.9
Copyright © 2009 Pearson Education, Inc Single-Gene Mutations Cause a Wide Range of Human Diseases
Copyright © 2009 Pearson Education, Inc. Table 15.3
Copyright © 2009 Pearson Education, Inc. Section 15.4 Table 15.4
Copyright © 2009 Pearson Education, Inc. Trinucleotide Repeats in Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease “Dynamic mutations” Genetic anticipation
Copyright © 2009 Pearson Education, Inc. Table 15-4 Copyright © 2006 Pearson Prentice Hall, Inc.
Copyright © 2009 Pearson Education, Inc. Cleary and Pearson (2005) Trends in Genetics 21:
Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Proofreading and Mismatch Repair Postreplication Repair The SOS Repair System (SOS Response)
Copyright © 2009 Pearson Education, Inc. Figure This is not repair! It is an example of damage tolerance.
Copyright © 2009 Pearson Education, Inc. SOS Response Pol V is induced and is error-prone. SOS response in bacteria
Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Photoreactivation Repair: Reversal of UV Damage
Copyright © 2009 Pearson Education, Inc. Figure 15.12
Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Base and Nucleotide Excision Repair
Copyright © 2009 Pearson Education, Inc. Figure 15.13
Copyright © 2009 Pearson Education, Inc. Figure 15.14
Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Nucleotide Excision Repair and Xeroderma Pigmentosum in Humans Also—defects in pol (eta)
Copyright © 2009 Pearson Education, Inc. Figure 15.15
Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Double-Strand Break Repair in Eukaryotes
Copyright © 2009 Pearson Education, Inc. Figure There are other pathways for DSB repair via homologous recombination. This type of repair is accurate, and is prominent in late S/G2. DSBs can also be repaired via nonhomologous end- joining, which is error-prone and is prominent during G1.
Copyright © 2009 Pearson Education, Inc. 15.6The Ames Test Is Used to Assess the Mutagenicity of Compounds
Copyright © 2009 Pearson Education, Inc. Figure 15.17
Copyright © 2009 Pearson Education, Inc Geneticists Use Mutations to Identify Genes and Study Gene Function
Copyright © 2009 Pearson Education, Inc Transposable Elements Move within the Genome and May Create Mutations Insertion Sequences Bacterial Transposons
Copyright © 2009 Pearson Education, Inc. Figure 15.18
Copyright © 2009 Pearson Education, Inc. The Ac–Ds System in Maize
Copyright © 2009 Pearson Education, Inc. Barbara McClintock Nobel Prize 1983
Copyright © 2009 Pearson Education, Inc. Figure 15.19
Copyright © 2009 Pearson Education, Inc. Figure 15.19a
Copyright © 2009 Pearson Education, Inc. Figure 15.19b
Copyright © 2009 Pearson Education, Inc. Figure 15.19c
Copyright © 2009 Pearson Education, Inc.
Breakage-fusion-bridge cycle Breakage-fusion-bridge cycle
Copyright © 2009 Pearson Education, Inc. Copia Elements in Drosophila
Copyright © 2009 Pearson Education, Inc. Figure 15.20
Copyright © 2009 Pearson Education, Inc. P Element Transposons in Drosophila Transposable Elements in Humans
Copyright © 2009 Pearson Education, Inc. Transposons Create Mutations and Provide Raw Material for Evolution
Copyright © 2009 Pearson Education, Inc. Table 22.1
Copyright © 2009 Pearson Education, Inc.
Transposons Use Two Different Methods to Move Within Genomes DNA Transposons and Transposition
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Transposons Use Two Different Methods to Move Within Genomes Retrotransposons and Transposition
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