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Genetics: Analysis and Principles Robert J. Brooker Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display CHAPTER 16 GENE MUTION AND DNA REPAIR
INTRODUCTION ,[object Object],[object Object],[object Object],[object Object],[object Object],16-2 Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16.1 CONSEQUENCES OF MUTATIONS Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-3
Mutations Change the DNA Sequence  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],16-4 5’ AACGCTAGATC 3’ 3’ TTGCGATCTAG 5’ 5’ AACGC G AGATC 3’ 3’ TTGCG C TCTAG 5’ ,[object Object],[object Object],[object Object]
Mutations Change the DNA Sequence  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],16-5 5’ AACGCTAGATC 3’ 3’ TTGCGATCTAG 5’ 5’ AACGCGC 3’ 3’ TTGCGCG 5’ Addition of four base pairs 5’ AACGCTAGATC 3’ 3’ TTGCGATCTAG 5’ 5’ AAC AGTC GCTAGATC 3’ 3’ TTG TCAG CGATCTAG 5’ Deletion of four base pairs
Mutations Can Alter the Coding Sequence Within a Gene  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-6
Mutations Can Alter the  Coding Sequence Within a Gene  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],16-7 ,[object Object],[object Object],[object Object]
16-8
Gene Mutations and Their Effects on Genotype and Phenotype  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],16-9
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-10
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-11
16-11
Gene Mutations in Noncoding Sequences Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-12
16-13
Mutations Due to Trinucleotide Repeats Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],16-14
16-15
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],16-16 CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG n  = 11 n  = 18
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-17
Changes in Chromosome Structure Can Affect Gene Expression Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-19
Figure 16.2 16-20 Regulatory sequences  are often bidirectional
Mutations Can Occur in  Germ-Line or Somatic Cells Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-21
Figure 16.4 16-22 Therefore, the mutation can be passed on to future generations The size of the patch  will depend on the  timing of the mutation The earlier the mutation,  the larger the patch An individual who has somatic regions that are genotypically different from each other is called a  genetic mosaic Therefore, the mutation cannot be passed on to future generations
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16.2 OCCURRENCE AND CAUSES OF MUTATION Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-23
16-24
Spontaneous Mutations Are Random Events Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],16-25
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-26
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Test of the two hypotheses: Fluctuation Test Predictions:
Results Fluctuation Test Gekwantifiseerd: >> counting of phage-resistant colonies ,[object Object],[object Object],[object Object]
16-27 E.. coli  is grown in the absence of T1 phages 20 million cells each 20 million cells each Many  ton r  bacteria Mutation occurred at an early stage of population growth, before T1 exposure No  ton r  bacteria Spontaneous mutation did not occur Several independent  ton r   mutations occurred during different stages  These are mixed together  in a big flask to give  an average value of  ton r   cells Great fluctuation in the number of  ton r  colonies Relatively even distribution of  ton r  colonies The Luria-Delbruck fluctuation test Figure 16.6
Mutation Rates and Frequencies Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-30
Mutation Rates and Frequencies Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-31
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-32 Figure 6.20 Contain many mutations at exactly the same site within the gene
Mutation Rates and Frequencies Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-33
Causes of Spontaneous Mutations Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],16-34 The most common
Causes of Spontaneous Mutations Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-35
16-36 Three out of four (A, T and G) are the incorrect nucleotide There’s a 75% chance  of a mutation Spontaneous depurination Figure 16.8
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],16-37 Figure 16.9 ,[object Object],[object Object]
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],16-38 ,[object Object],[object Object],[object Object],[object Object],Figure 16.9
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-39
16-40 Figure 16.10 Rare Common
16-41 Figure 16.10
16-42 Figure 16.10 Temporary tautomeric shift Shifted back to its normal form
Types of Mutagens Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],16-52
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-53
Mutagens Alter DNA Structure in Different Ways Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],16-54
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],16-55 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
16-56 Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display These mispairings create mutations in the newly replicated strand  Mispairing of modified bases Figure 16.13
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-57
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],16-58 Figure 16.14 Normal pairing  This tautomeric shift occurs at a relatively high rate  Mispairing
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-59 Figure 16.14 In this way, 5-bromouracil can promote a change of an AT base pair into a GC base pair
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-60
Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-61 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Figure 16.15
Testing Methods Can Determine If an Agent Is a Mutagen Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-62
16-63 Provides a mixture of enzymes that  may activate a mutagen The control plate indicates that there is a  low level of spontaneous mutation The Ames test for mutagenicity Figure 16.16
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16.3 DNA REPAIR Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-64
16-65
Damaged Bases Can Be Directly Repaired Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-66
16-67 Direct repair of damaged bases in DNA Figure 16.17
Base Excision Repair Removes a Damaged DNA Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],16-68
16-69 Figure 16.18 Depending on whether a purine or pyrimidine is removed, this creates an  ap urinic and an  ap yrimidinic site, respectively Nick replication would be  a more accurate term
Nucleotide Excision Repair Removes Damaged DNA Segments  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-70
Nucleotide Excision Repair Removes Damaged DNA Segments  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-71
16-72 Figure 16.19
16-73 Figure 16.19 Typically, the cuts are 4-5 nucleotides from the 3’ end of the damage, and 8 nucleotides from the 5’ end
Nucleotide Excision Repair Removes Damaged DNA Segments  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],16-74
Mismatch Repair Systems Detect and Correct A Base Pair Mismatch  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],16-75
Mismatch Repair Systems Detect and Correct A Base Pair Mismatch  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],16-76
Mismatch Repair Systems Detect and Correct A Base Pair Mismatch  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-77
16-78 Acts as a linker between MutS and MutH Methyl-directed mismatch repair in  E. coli Figure 16.21
16-79 Methyl-directed mismatch repair in  E. coli Figure 16.21
Double-Strand Breaks in DNA Can Be Repaired by Recombination  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-80
16-81 Figure 16.22
16-82 Figure 16.22
Repair of Actively Transcribed DNA  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],16-83
Repair of Actively Transcribed DNA  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],16-84
16-85 Figure 16.24
Repair of Actively Transcribed DNA  Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display ,[object Object],[object Object],[object Object],[object Object],[object Object],16-86
* Ataxia telangiectasia * Bloom syndrome * Cockayne's syndrome * Progeria (Hutchinson-Gilford Progeria syndrome) * Rothmund-Thomson syndrome * Trichothiodystrophy * Werner syndrome * Xeroderma pigmentosum Human diseases due to mutations in genes involved in DNA repair
End of Chapter 16

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Hoofdstuk 16-mutations-dna repair

  • 1. Genetics: Analysis and Principles Robert J. Brooker Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display CHAPTER 16 GENE MUTION AND DNA REPAIR
  • 2.
  • 3.
  • 4.
  • 5.
  • 6.
  • 7.
  • 9.
  • 10.
  • 11.
  • 12. 16-11
  • 13.
  • 14. 16-13
  • 15.
  • 16. 16-15
  • 17.
  • 18.
  • 19.
  • 20. Figure 16.2 16-20 Regulatory sequences are often bidirectional
  • 21.
  • 22. Figure 16.4 16-22 Therefore, the mutation can be passed on to future generations The size of the patch will depend on the timing of the mutation The earlier the mutation, the larger the patch An individual who has somatic regions that are genotypically different from each other is called a genetic mosaic Therefore, the mutation cannot be passed on to future generations
  • 23.
  • 24. 16-24
  • 25.
  • 26.
  • 27.
  • 28. Test of the two hypotheses: Fluctuation Test Predictions:
  • 29.
  • 30. 16-27 E.. coli is grown in the absence of T1 phages 20 million cells each 20 million cells each Many ton r bacteria Mutation occurred at an early stage of population growth, before T1 exposure No ton r bacteria Spontaneous mutation did not occur Several independent ton r mutations occurred during different stages These are mixed together in a big flask to give an average value of ton r cells Great fluctuation in the number of ton r colonies Relatively even distribution of ton r colonies The Luria-Delbruck fluctuation test Figure 16.6
  • 31.
  • 32.
  • 33. Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-32 Figure 6.20 Contain many mutations at exactly the same site within the gene
  • 34.
  • 35.
  • 36.
  • 37. 16-36 Three out of four (A, T and G) are the incorrect nucleotide There’s a 75% chance of a mutation Spontaneous depurination Figure 16.8
  • 38.
  • 39.
  • 40.
  • 41. 16-40 Figure 16.10 Rare Common
  • 43. 16-42 Figure 16.10 Temporary tautomeric shift Shifted back to its normal form
  • 44.
  • 45. Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-53
  • 46.
  • 47.
  • 48. 16-56 Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display These mispairings create mutations in the newly replicated strand Mispairing of modified bases Figure 16.13
  • 49.
  • 50.
  • 51. Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display 16-59 Figure 16.14 In this way, 5-bromouracil can promote a change of an AT base pair into a GC base pair
  • 52.
  • 53.
  • 54.
  • 55. 16-63 Provides a mixture of enzymes that may activate a mutagen The control plate indicates that there is a low level of spontaneous mutation The Ames test for mutagenicity Figure 16.16
  • 56.
  • 57. 16-65
  • 58.
  • 59. 16-67 Direct repair of damaged bases in DNA Figure 16.17
  • 60.
  • 61. 16-69 Figure 16.18 Depending on whether a purine or pyrimidine is removed, this creates an ap urinic and an ap yrimidinic site, respectively Nick replication would be a more accurate term
  • 62.
  • 63.
  • 65. 16-73 Figure 16.19 Typically, the cuts are 4-5 nucleotides from the 3’ end of the damage, and 8 nucleotides from the 5’ end
  • 66.
  • 67.
  • 68.
  • 69.
  • 70. 16-78 Acts as a linker between MutS and MutH Methyl-directed mismatch repair in E. coli Figure 16.21
  • 71. 16-79 Methyl-directed mismatch repair in E. coli Figure 16.21
  • 72.
  • 75.
  • 76.
  • 78.
  • 79. * Ataxia telangiectasia * Bloom syndrome * Cockayne's syndrome * Progeria (Hutchinson-Gilford Progeria syndrome) * Rothmund-Thomson syndrome * Trichothiodystrophy * Werner syndrome * Xeroderma pigmentosum Human diseases due to mutations in genes involved in DNA repair