1. 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.

2. What’s a mutation?

3. Mutations Are Classified in Various Ways Spontaneous, Induced, and Adaptive Mutations

4. Table 15-1 Copyright © 2006 Pearson Prentice Hall, Inc.

5. Classifcation as somatic, germline, autosomal, X-linked, recessive, dominant “haploinsufficiency”

6. Classification Based on Phenotypic Effects Loss-of-function Gain-of-function Morphological Nutritional Behavioral Lethal Conditional

7. The Spontaneous Mutation Rate Varies Greatly among Organisms Deleterious Mutations in Humans

8. Table 15-2 Copyright © 2006 Pearson Prentice Hall, Inc.

9. Molecular nature of mutations Figure 15-1 Copyright © 2006 Pearson Prentice Hall, Inc. base substitution transition transversion

10. Spontaneous (and induced) Mutations Arise from Replication Errors and Base Modifications DNA Replication Errors Replication Slippage Tautomeric Shifts

11. Figure 15-2 Copyright © 2006 Pearson Prentice Hall, Inc.

12. Figure 15-2a Copyright © 2006 Pearson Prentice Hall, Inc.

13. Figure 15-2b Copyright © 2006 Pearson Prentice Hall, Inc.

14. Figure 15-3 Copyright © 2006 Pearson Prentice Hall, Inc.

15. Damage versus mutation

16. Depurination and Deamination

17. Figure 15-4 Copyright © 2006 Pearson Prentice Hall, Inc.

18. Oxidative Damage

19. Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Base Analogs

20. Figure 15-5 Copyright © 2006 Pearson Prentice Hall, Inc.

21. Alkylating Agents

22. Figure 15-6 Copyright © 2006 Pearson Prentice Hall, Inc.

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

24. Acridine Dyes and Frameshift Mutations Intercalating agents

25. Figure 15-7 Copyright © 2006 Pearson Prentice Hall, Inc.

26. Figure 15-8 Copyright © 2006 Pearson Prentice Hall, Inc. Radiation can induce mutations

27. Ultraviolet Light and Thymine Dimers

28. Figure 15-9 Copyright © 2006 Pearson Prentice Hall, Inc.

29. Ionizing Radiation

30. Figure 15-10 Copyright © 2006 Pearson Prentice Hall, Inc.

31. Trinucleotide Repeats in Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease “Dynamic mutations” Genetic anticipation

32. Table 15-4 Copyright © 2006 Pearson Prentice Hall, Inc.

33. Cleary and Pearson (2005) Trends in Genetics 21:272-280

34. Genetic Techniques, Cell Cultures, and Pedigree Analysis Are All Used to Detect Mutations Detection in Bacteria and Fungi Detection in Plants Detection in Humans

35. Figure 15-11 Copyright © 2006 Pearson Prentice Hall, Inc.

36. Figure 15-12 Copyright © 2006 Pearson Prentice Hall, Inc.

37. The Ames Test Is Used to Assess the Mutagenicity of Compounds

38. Figure 15-13 Copyright © 2006 Pearson Prentice Hall, Inc.

39. Organisms Use DNA Repair Systems to Counteract Mutations Proofreading and Mismatch Repair Postreplication Repair SOS Response

40. Figure 15-14 Copyright © 2006 Pearson Prentice Hall, Inc. This is not repair! It is an example of damage tolerance.

41. SOS Response http://www.science.siu.edu/microbiology/micr460/460%20Pages/SOS.html Pol V is induced and is error-prone.

42. Photoreactivation Repair: Reversal of UV Damage in Prokaryotes

43. Figure 15-15 Copyright © 2006 Pearson Prentice Hall, Inc.

44. Base and Nucleotide Excision Repair

45. 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

46. Figure 15-17 Copyright © 2006 Pearson Prentice Hall, Inc.

47. Xeroderma Pigmentosum and Nucleotide Excision Repair in Humans Also—defects in pol  (eta)

48. Figure 15-18 Copyright © 2006 Pearson Prentice Hall, Inc.

49. Double-Strand Break Repair in Eukaryotes Homologous recombinational repair (HR, HDR) Nonhomologous endjoining (NHEJ) (particularly active in S/G2) (particularly active in G1)

50. Transposable Elements Move within the Genome and May Disrupt Genetic Function Insertion Sequences

51. Figure 15-19 Copyright © 2006 Pearson Prentice Hall, Inc.

52. Bacterial Transposons Often carry genes encoding antibiotic resistance.

53. Figure 15-20 Copyright © 2006 Pearson Prentice Hall, Inc.

54. The Ac–Ds System in Maize

55. Figure 15-22 Copyright © 2006 Pearson Prentice Hall, Inc.

56. Figure 15-22a Copyright © 2006 Pearson Prentice Hall, Inc.

57. Figure 15-22b Copyright © 2006 Pearson Prentice Hall, Inc.

58. Figure 15-22c Copyright © 2006 Pearson Prentice Hall, Inc.

59. Figure 15-23 Copyright © 2006 Pearson Prentice Hall, Inc.

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

61. Mobile Genetic Elements and Wrinkled Peas: Mendel Revisited

62. Copia Elements in Drosophila

63. Figure 15-24 Copyright © 2006 Pearson Prentice Hall, Inc.

64. P Element Transposons in Drosophila Transposable Elements in Humans (transpose in germ line) LINES and SINES 50% of genome is comprised of transposons