1. Copyright © 2009 Pearson Education, Inc. Chapter 15 Lecture Concepts of Genetics Tenth Edition Gene Mutation, DNA Repair, and Transposition

2. Copyright © 2009 Pearson Education, Inc. What’s a mutation?

3. 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.

4. Copyright © 2009 Pearson Education, Inc. Table 15.2

5. Copyright © 2009 Pearson Education, Inc. 15.1Mutations Are Classified in Various Ways 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. 15.1Mutations 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.

9. Figure 15.1 Classification Based on Type of Molecular Change base substitution transition transversion

10. Copyright © 2009 Pearson Education, Inc. 15.2Spontaneous Mutations Arise from Replication Errors and Base Modifications DNA Replication Errors Replication Slippage Tautomeric Shifts

11. Copyright © 2009 Pearson Education, Inc. Figure 15.2

12. Copyright © 2009 Pearson Education, Inc. Figure 15.2a

13. Copyright © 2009 Pearson Education, Inc. Figure 15.2b

14. Copyright © 2009 Pearson Education, Inc. Figure 15.3

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

16. Copyright © 2009 Pearson Education, Inc. 15.2Spontaneous Mutations Arise from Replication Errors and Base Modifications Depurination and Deamination

17. Copyright © 2009 Pearson Education, Inc. Figure 15.4 Deamination

18. Copyright © 2009 Pearson Education, Inc. 15.2Spontaneous Mutations Arise from Replication Errors and Base Modifications Oxidative Damage Transposons

19. Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Base Analogs

20. Copyright © 2009 Pearson Education, Inc. Figure 15.5

21. Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Alkylating Agents and Acridine Dyes

22. Copyright © 2009 Pearson Education, Inc. Figure 15.6 Example of alkylation

23. Copyright © 2009 Pearson Education, Inc. crosslinks

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

25. Copyright © 2009 Pearson Education, Inc. A couple of intercalating agents

26. Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Ultraviolet Light

27. Copyright © 2009 Pearson Education, Inc. Figure 15.7

28. Copyright © 2009 Pearson Education, Inc. Figure 15.8

29. Copyright © 2009 Pearson Education, Inc. 15.3Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Ionizing Radiation

30. Copyright © 2009 Pearson Education, Inc. Figure 15.9

31. Copyright © 2009 Pearson Education, Inc. 15.4 Single-Gene Mutations Cause a Wide Range of Human Diseases

32. Copyright © 2009 Pearson Education, Inc. Table 15.3

33. Copyright © 2009 Pearson Education, Inc. Section 15.4 Table 15.4

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

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

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

37. 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)

38. Copyright © 2009 Pearson Education, Inc. Figure 15.11 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. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Photoreactivation Repair: Reversal of UV Damage

41. Copyright © 2009 Pearson Education, Inc. Figure 15.12

42. Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Base and Nucleotide Excision Repair

43. Copyright © 2009 Pearson Education, Inc. Figure 15.13

44. Copyright © 2009 Pearson Education, Inc. Figure 15.14

45. 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)

46. Copyright © 2009 Pearson Education, Inc. Figure 15.15

47. Copyright © 2009 Pearson Education, Inc. 15.5Organisms Use DNA Repair Systems to Counteract Mutations Double-Strand Break Repair in Eukaryotes

48. Copyright © 2009 Pearson Education, Inc. Figure 15.16 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. 15.6The Ames Test Is Used to Assess the Mutagenicity of Compounds

50. Copyright © 2009 Pearson Education, Inc. Figure 15.17

51. Copyright © 2009 Pearson Education, Inc. 15.7 Geneticists Use Mutations to Identify Genes and Study Gene Function

52. Copyright © 2009 Pearson Education, Inc. 15.8 Transposable Elements Move within the Genome and May Create Mutations Insertion Sequences Bacterial Transposons

53. Copyright © 2009 Pearson Education, Inc. Figure 15.18

54. Copyright © 2009 Pearson Education, Inc. The Ac–Ds System in Maize

55. Copyright © 2009 Pearson Education, Inc. Barbara McClintock Nobel Prize 1983

56. Copyright © 2009 Pearson Education, Inc. Figure 15.19

57. Copyright © 2009 Pearson Education, Inc. Figure 15.19a

58. Copyright © 2009 Pearson Education, Inc. Figure 15.19b

59. Copyright © 2009 Pearson Education, Inc. Figure 15.19c

60. Copyright © 2009 Pearson Education, Inc.

61. Breakage-fusion-bridge cycle www.biologie.uni-hamburg.de/b-online/ge21/18.jpg Breakage-fusion-bridge cycle

62. Copyright © 2009 Pearson Education, Inc. Copia Elements in Drosophila

63. Copyright © 2009 Pearson Education, Inc. Figure 15.20

64. Copyright © 2009 Pearson Education, Inc. P Element Transposons in Drosophila Transposable Elements in Humans

66. Copyright © 2009 Pearson Education, Inc. Transposons Create Mutations and Provide Raw Material for Evolution

67. Copyright © 2009 Pearson Education, Inc. Table 22.1

68. Copyright © 2009 Pearson Education, Inc.

72. Transposons Use Two Different Methods to Move Within Genomes DNA Transposons and Transposition

73. Copyright © 2009 Pearson Education, Inc.

77. Transposons Use Two Different Methods to Move Within Genomes Retrotransposons and Transposition

78. Copyright © 2009 Pearson Education, Inc.