1. 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.

2. What’s a mutation?

3. Copyright © 2009 Pearson Education, Inc. 16.1Mutations Are Classified in Various Ways 16.1.1 Spontaneous and Induced Mutations 16.1.2 The Luria-Delbruck Fluctuation Test: Are Mutations Spontaneous or Adaptive? 16.1.1.1Hypothesis 1: Adaptive Mutation. 16.1.1.2Hypothesis 2: Spontaneous Mutation.

4. Copyright © 2009 Pearson Education, Inc. Table 16.2

5. Copyright © 2009 Pearson Education, Inc. 16.1Mutations Are Classified in Various Ways 16.1.3 Classification Based on Location of Mutation Somatic, germline, autosomal, X-linked

6. Copyright © 2009 Pearson Education, Inc. Mutations are also classified as dominant versus recessive “Haploinsufficiency” also is seen.

7. 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

8. Copyright © 2009 Pearson Education, Inc. Table 16.1

9. Copyright © 2009 Pearson Education, Inc. Figure 16.1 Classification Based on Type of Molecular Change base substitution transition transversion

10. Copyright © 2009 Pearson Education, Inc. 16.2Spontaneous Mutations Arise from Replication Errors and Base Modifications 16.2.1DNA Replication Errors 16.2.2Replication Slippage 16.2.3Tautomeric Shifts

11. Copyright © 2009 Pearson Education, Inc. Figure 16.2

12. Copyright © 2009 Pearson Education, Inc. Figure 16.2a

13. Copyright © 2009 Pearson Education, Inc. Figure 16.2b

14. Copyright © 2009 Pearson Education, Inc. Figure 16.3

15. Copyright © 2009 Pearson Education, Inc. Damage versus mutation

16. Copyright © 2009 Pearson Education, Inc. 16.2Spontaneous Mutations Arise from Replication Errors and Base Modifications 16.2.4Depurination and Deamination

17. Copyright © 2009 Pearson Education, Inc. Figure 16.4 Deamination

18. Copyright © 2009 Pearson Education, Inc. 16.2Spontaneous Mutations Arise from Replication Errors and Base Modifications 16.2.5 Oxidative Damage 16.2.6 Transposons

19. Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation 16.3.1 Base Analogs

20. Copyright © 2009 Pearson Education, Inc. Figure 16.5

21. Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation 16.3.2 Alkylating Agents and Acridine Dyes

22. Copyright © 2009 Pearson Education, Inc. Figure 16.6 Example of alkylation

23. Copyright © 2009 Pearson Education, Inc. Table 15-3 Copyright © 2006 Pearson Prentice Hall, Inc. crosslinks

24. Copyright © 2009 Pearson Education, Inc. Acridine Dyes and Frameshift Mutations Intercalating agents

25. Copyright © 2009 Pearson Education, Inc. Figure 15-7 Copyright © 2006 Pearson Prentice Hall, Inc. A couple of intercalating agents

26. Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation 16.3.3 Ultraviolet Light

27. Copyright © 2009 Pearson Education, Inc. Figure 16.7

28. Copyright © 2009 Pearson Education, Inc. Figure 16.8

29. Copyright © 2009 Pearson Education, Inc. 16.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation 16.3.4 Ionizing Radiation

30. Copyright © 2009 Pearson Education, Inc. Figure 16.9

31. Copyright © 2009 Pearson Education, Inc. 16.4Genomics and Gene Sequencing Have Enhanced Our Understanding of Mutations in Humans 16.4.1ABO Blood Types (I O = frameshift) 16.4.2Muscular Dystrophy (Duchenne vs Becker) 16.4.3Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease

32. Copyright © 2009 Pearson Education, Inc. Trinucleotide Repeats in Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease “Dynamic mutations” Genetic anticipation

33. Copyright © 2009 Pearson Education, Inc. Table 15-4 Copyright © 2006 Pearson Prentice Hall, Inc.

34. Copyright © 2009 Pearson Education, Inc. Cleary and Pearson (2005) Trends in Genetics 21:272-280

35. Copyright © 2009 Pearson Education, Inc. 16.5The Ames Test Is Used to Assess the Mutagenicity of Compounds

36. Copyright © 2009 Pearson Education, Inc. Figure 16.10

37. 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)

38. Copyright © 2009 Pearson Education, Inc. Figure 16.11 This is not repair! It is an example of damage tolerance.

39. Copyright © 2009 Pearson Education, Inc. SOS Response http://www.science.siu.edu/microbiology/micr460/460%20Pages/SOS.html Pol V is induced and is error-prone. SOS response in bacteria

40. Copyright © 2009 Pearson Education, Inc. 16.6Organisms Use DNA Repair Systems to Counteract Mutations 16.6.3 Photoreactivation Repair: Reversal of UV Damage

41. Copyright © 2009 Pearson Education, Inc. Figure 16.12

42. Copyright © 2009 Pearson Education, Inc. 16.6Organisms Use DNA Repair Systems to Counteract Mutations 16.6.4 Base and Nucleotide Excision Repair

43. Copyright © 2009 Pearson Education, Inc. Figure 16.13

44. Copyright © 2009 Pearson Education, Inc. Figure 16.14

45. Copyright © 2009 Pearson Education, Inc. 16.6Organisms Use DNA Repair Systems to Counteract Mutations 16.6.5 Nucleotide Excision Repair and Xeroderma Pigmentosum in Humans Also—defects in pol  (eta)

46. Copyright © 2009 Pearson Education, Inc. Figure 16.15

47. Copyright © 2009 Pearson Education, Inc. 16.6Organisms Use DNA Repair Systems to Counteract Mutations 16.6.6 Double-Strand Break Repair in Eukaryotes

48. Copyright © 2009 Pearson Education, Inc. Figure 16.16 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.

49. Copyright © 2009 Pearson Education, Inc. 16.7 Geneticists Use Mutations to Identify Genes and Study Gene Function