Copyright © 2009 Pearson Education, Inc. Art and Photos in PowerPoint ® Concepts of Genetics Ninth Edition Klug, Cummings, Spencer, Palladino Chapter 16 Gene Mutation and DNA Repair Copyright © 2009 Pearson Education, Inc.
What’s a mutation?
Copyright © 2009 Pearson Education, Inc. 16.1Mutations 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 16.2
Copyright © 2009 Pearson Education, Inc. 16.1Mutations 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. 16.1Mutations Are Classified in Various Ways Classification Based on Phenotypic Effects Loss-of-function Gain-of-function Morphological Nutritional Behavioral Lethal Conditional
Copyright © 2009 Pearson Education, Inc. Table 16.1
Copyright © 2009 Pearson Education, Inc. Figure 16.1 Classification Based on Type of Molecular Change base substitution transition transversion
Copyright © 2009 Pearson Education, Inc. 16.2Spontaneous Mutations Arise from Replication Errors and Base Modifications DNA Replication Errors Replication Slippage Tautomeric Shifts
Copyright © 2009 Pearson Education, Inc. Figure 16.2
Copyright © 2009 Pearson Education, Inc. Figure 16.2a
Copyright © 2009 Pearson Education, Inc. Figure 16.2b
Copyright © 2009 Pearson Education, Inc. Figure 16.3
Copyright © 2009 Pearson Education, Inc. Damage versus mutation
Copyright © 2009 Pearson Education, Inc. 16.2Spontaneous Mutations Arise from Replication Errors and Base Modifications Depurination and Deamination
Copyright © 2009 Pearson Education, Inc. Figure 16.4 Deamination
Copyright © 2009 Pearson Education, Inc. 16.2Spontaneous Mutations Arise from Replication Errors and Base Modifications Oxidative Damage Transposons
Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Base Analogs
Copyright © 2009 Pearson Education, Inc. Figure 16.5
Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Alkylating Agents and Acridine Dyes
Copyright © 2009 Pearson Education, Inc. Figure 16.6 Example of alkylation
Copyright © 2009 Pearson Education, Inc. Table 15-3 Copyright © 2006 Pearson Prentice Hall, Inc. crosslinks
Copyright © 2009 Pearson Education, Inc. Acridine Dyes and Frameshift Mutations Intercalating agents
Copyright © 2009 Pearson Education, Inc. Figure 15-7 Copyright © 2006 Pearson Prentice Hall, Inc. A couple of intercalating agents
Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Ultraviolet Light
Copyright © 2009 Pearson Education, Inc. Figure 16.7
Copyright © 2009 Pearson Education, Inc. Figure 16.8
Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Ionizing Radiation
Copyright © 2009 Pearson Education, Inc. Figure 16.9
Copyright © 2009 Pearson Education, Inc. 16.4Genomics and Gene Sequencing Have Enhanced Our Understanding of Mutations in Humans ABO Blood Types (I O = frameshift) Muscular Dystrophy (Duchenne vs Becker) Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease
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. 16.5The Ames Test Is Used to Assess the Mutagenicity of Compounds
Copyright © 2009 Pearson Education, Inc. Figure 16.10
Copyright © 2009 Pearson Education, Inc. 16.6Organisms 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. 16.6Organisms Use DNA Repair Systems to Counteract Mutations Photoreactivation Repair: Reversal of UV Damage
Copyright © 2009 Pearson Education, Inc. Figure 16.12
Copyright © 2009 Pearson Education, Inc. 16.6Organisms Use DNA Repair Systems to Counteract Mutations Base and Nucleotide Excision Repair
Copyright © 2009 Pearson Education, Inc. Figure 16.13
Copyright © 2009 Pearson Education, Inc. Figure 16.14
Copyright © 2009 Pearson Education, Inc. 16.6Organisms 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 16.15
Copyright © 2009 Pearson Education, Inc. 16.6Organisms 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 Geneticists Use Mutations to Identify Genes and Study Gene Function