Genetics and Genomics

  1. Mutation, Variation, and DNA Repair
    1. Classification of Mutations
      1. Point Mutations
        1. Transition Mutations
          1. Purine to Purine
            1. Pyrimidine to Pyrimidine
            2. Transversion Mutations
              1. Purine to Pyrimidine
                1. Pyrimidine to Purine
                2. Silent Mutations
                  1. Synonymous Changes
                    1. Wobble Position Effects
                    2. Missense Mutations
                      1. Conservative Changes
                        1. Non-Conservative Changes
                          1. Functional Consequences
                          2. Nonsense Mutations
                            1. Premature Stop Codons
                              1. Truncated Proteins
                            2. Frameshift Mutations
                              1. Insertion Mutations
                                1. Single Base Insertions
                                  1. Multiple Base Insertions
                                  2. Deletion Mutations
                                    1. Single Base Deletions
                                      1. Multiple Base Deletions
                                      2. Reading Frame Effects
                                      3. Chromosomal Mutations
                                        1. Large-Scale Deletions
                                          1. Duplications
                                            1. Inversions
                                              1. Translocations
                                            2. Mutation Causes and Mechanisms
                                              1. Spontaneous Mutations
                                                1. DNA Replication Errors
                                                  1. Polymerase Errors
                                                    1. Slipped-Strand Mispairing
                                                    2. Spontaneous Chemical Changes
                                                      1. Deamination Reactions
                                                        1. Depurination Events
                                                          1. Tautomeric Shifts
                                                          2. Spontaneous DNA Damage
                                                            1. Oxidative Damage
                                                              1. Hydrolytic Damage
                                                            2. Induced Mutations
                                                              1. Chemical Mutagens
                                                                1. Base Analogs
                                                                  1. Alkylating Agents
                                                                    1. Intercalating Agents
                                                                      1. Deaminating Agents
                                                                      2. Physical Mutagens
                                                                        1. Ionizing Radiation
                                                                          1. X-rays
                                                                            1. Gamma Rays
                                                                              1. Particle Radiation
                                                                              2. Non-Ionizing Radiation
                                                                                1. UV Light
                                                                                  1. UV-A Effects
                                                                                    1. UV-B Effects
                                                                                      1. UV-C Effects
                                                                                    2. Biological Mutagens
                                                                                      1. Transposable Elements
                                                                                        1. Viral Insertions
                                                                                    3. DNA Repair Systems
                                                                                      1. Direct Repair Mechanisms
                                                                                        1. Photolyase Activity
                                                                                          1. O6-Methylguanine Methyltransferase
                                                                                          2. Excision Repair Pathways
                                                                                            1. Base Excision Repair
                                                                                              1. Glycosylase Recognition
                                                                                                1. AP Endonuclease Activity
                                                                                                  1. Polymerase Filling
                                                                                                    1. Ligase Sealing
                                                                                                    2. Nucleotide Excision Repair
                                                                                                      1. Damage Recognition
                                                                                                        1. Dual Incision
                                                                                                          1. Gap Filling
                                                                                                            1. Ligation
                                                                                                            2. Mismatch Repair
                                                                                                              1. Mismatch Recognition
                                                                                                                1. Strand Discrimination
                                                                                                                  1. Excision Process
                                                                                                                    1. Resynthesis
                                                                                                                  2. Double-Strand Break Repair
                                                                                                                    1. Homologous Recombination
                                                                                                                      1. Strand Invasion
                                                                                                                        1. Holiday Junction Formation
                                                                                                                          1. Resolution Pathways
                                                                                                                          2. Non-Homologous End Joining
                                                                                                                            1. End Processing
                                                                                                                              1. Ligation Process
                                                                                                                                1. Error-Prone Nature
                                                                                                                              2. Repair System Defects
                                                                                                                                1. Xeroderma Pigmentosum
                                                                                                                                  1. Lynch Syndrome
                                                                                                                                    1. BRCA Mutations
                                                                                                                                  2. Mutation Effects and Consequences
                                                                                                                                    1. Molecular Consequences
                                                                                                                                      1. Protein Structure Changes
                                                                                                                                        1. Enzyme Activity Effects
                                                                                                                                          1. Regulatory Disruption
                                                                                                                                          2. Cellular Consequences
                                                                                                                                            1. Cell Death
                                                                                                                                              1. Transformation
                                                                                                                                                1. Growth Alterations
                                                                                                                                                2. Organismal Consequences
                                                                                                                                                  1. Developmental Defects
                                                                                                                                                    1. Disease Susceptibility
                                                                                                                                                      1. Evolutionary Adaptation

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                                                                                                                                                  5. Chromosomal Genetics

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                                                                                                                                                  7. Population and Evolutionary Genetics