Molecular Biology: DNA Mutations, Damage and Repair

Molecular Biology · Basic Sciences

How it begins

Un análisis exhaustivo de la integridad genómica: desde los mecanismos moleculares del daño hasta las vías de reparación y su relevancia clínica en oncología, genética médica y farmacología.

What it covers

1. Introduction: The Integrity of the Genome as the Foundation of Life
2. · DNA Structure: Brief Contextual Reminder
3. Classification and Types of Mutations
4. · 2.1 Classification by Genomic Extension
5. · 2.2 Chromosome Mutations (Structural Aberrations)
6. · 2.3 Genomic Mutations (Numeric)
7. · 2.4 Tandem Repeat Expansions (Trinucleotide Repeat Expansions)
8. · 2.5 Somatic Mutations vs. Germinals
9. Types of DNA Damage: Molecular Lesions
10. · 3.1 Endogenous Damage: The Internal Enemy
11. · 3.2 Exogenous Damage: Environmental Aggressions
12. Mutagenic Agents: Classification and Mechanisms of Action
13. · 4.1 Physical Mutagens
14. · 4.2 Chemical Mutagens
15. · 4.3 Biological Mutagens
16. DNA Repair Mechanisms: Overview
17. Base Excision Repair (BER)
18. · 6.1 Molecular Mechanism of BER
19. Nucleotide Excision Repair (NER)
20. · 7.1 Two Sub-Tracks of the NER
21. · 7.2 Molecular Mechanism of NER
22. · 7.3 The TFIIH Complex: Central Actor of NER and Transcription
23. Mismatched Base Repair (MMR)
24. · 8.1 Components of the MMR System in Mammals
25. · 8.2 MMR Mechanism
26. · 8.3 Microsatellite Instability (MSI) and MMR-Deficient Phenotype (dMMR)
27. Double Chain Break (DSB) Repair
28. · 9.1 Homologous Recombination (HR)
29. · 9.2 Non-Homologous End Joining (NHEJ)
30. Additional Pathways: Direct Reversal, Damage Tolerance, and Crossover Repair
31. · 10.1 Direct Damage Reversal
32. · 10.2 DNA Damage Tolerance (DDT): Translesional Synthesis (TLS)
33. · 10.3 Repair of Inter-Catenary Crossings (ICL Repair — Via Fanconi)
34. Chromosome Instability and Radiosensitivity Syndromes
35. Mutations, Genomic Instability and Carcinogenesis
36. · 12.1 The Multistage Model of Carcinogenesis
37. · 12.2 Oncogenes and Tumor Suppressors: Genetic Dualism
38. · 12.3 Mutational Signatures
39. · 12.4 Genomic Instability as an Enabler of Cancer
40. · 12.5 TP53: The Guardian of the Genome
41. Pharmacological Implications: DNA Damage as a Therapeutic Target
42. · 13.1 Agents That Induce DNA Damage in Oncology
43. · 13.2 DNA Repair Inhibitors: A New Therapeutic Generation
44. · 13.3 DNA-Based Predictive Response Biomarkers
45. Current Borders and Future Perspectives
46. · 14.1 Genome Editing and DNA Repair
47. · 14.2 Epigenetics and DNA Repair
48. · 14.3 Whole Genome Sequencing in the Clinic
49. · 14.4 Artificial Intelligence and Prediction of Mutational Pathogenicity