Mutagenesis
Code: 101980Credits: 6
| Degree programme | Type | Course |
|---|---|---|
| Genetics | OB | 2 |
Contact lecturer
- Name :
- Susana Pastor Benito
- Email :
- susana.pastor@uab.cat
Teaching staff
- Alba Garcia Rodriguez
Group languages
You can consult this information at the end of the document.
Prerequisites
There is not any official prerequisite more than those needed for the access to the degree.
Objectives
Mutagenesis is the study of the nature of mutational changes, the factors and mechanisms involved in the induction of genetic damage, and their relationship with human disease, particularly cancer and syndromes associated with chromosomal instability and defects in DNA repair mechanisms.
This course provides students with the basic knowledge of the main assays used to assess genotoxicity and mutagenicity, as well as their application in human biomonitoring studies. It also introduces the principles of mutagenicity testing and their role in the identification and characterization of mutagenic agents.
The course combines both fundamental and applied aspects of mutagenesis, integrating concepts from the molecular level to the individual and population levels. It is taught during the second year of the Bachelor's Degree in Genetics and covers the molecular basis of mutagenesis, the different types of mutagenic agents (physical, chemical and biological) and their mechanisms of action, the main methods used to detect mutations, the relationship between mutagenesis and disease, and the application of biomonitoring in human populations.
At the end of the course, students should be able to:
- Understand the molecular basis of gene and chromosomal mutations, the mechanisms involved in the induction of genetic damage, and their relationship with human disease.
- Recognize the different types of mutagenic agents, including physical, chemical and biological mutagens, and understand the mechanisms by which they induce alterations in the genetic material.
- Describe the main assays used to detect genotoxicity and mutagenicity, interpret their results, and understand the basic principles involved in designing mutagenicity assessment studies.
- Understand the major contributions of mutagenesis and genetic toxicology to biomedical research and human biomonitoring, as well as the current challenges and future directions of the field.
Learning outcomes
- CM26 (Adapt the communication of complex concepts of molecular biology, pathogenesis and development to the needs of different audiences.) Adapt the communication of complex concepts of molecular biology, pathogenesis and development to the needs of different audiences.
- KM18 (Describe the mechanisms of gene expression and its regulation in prokaryotes and eukaryotes, integrating their bioethical implications and the gender perspective in genomics.) Describe the mechanisms of gene expression and its regulation in prokaryotes and eukaryotes, integrating their bioethical implications and the gender perspective in genomics.
- KM19 (Explain the molecular processes of the cell cycle, apoptosis, and the genetic basis of cell development and differentiation.) Explain the molecular processes of the cell cycle, apoptosis, and the genetic basis of cell development and differentiation.
- KM20 (Describe the mechanisms of mutation, DNA repair, and the function of mobile elements in pathogenesis and evolution.) Describe the mechanisms of mutation, DNA repair, and the function of mobile elements in pathogenesis and evolution.
- SM24 (Apply experimental design strategies and hypothesis formulation for the study of gene regulation processes and molecular biology.) Apply experimental design strategies and hypothesis formulation for the study of gene regulation processes and molecular biology.
Contents
Unit 1. INTRODUCTION
Brief history of the development of Mutagenesis. Basic and applied aspects. Its role within Genetics and Genetic Toxicology. Environmental Mutagenesis.
Unit 2. GENE MUTATION
Mutations. Types of mutations. Gene mutations. Phenotypic effects of mutations. Types of mutants. Reversion and suppression. Spontaneous mutations. Endogenous and exogenous causes of mutations. Molecular basis of gene mutations. Mechanisms contributing to spontaneous mutation.
Unit 3. CHROMOSOMAL MUTATION
Review of the main types of chromosomal alterations. Cell cycle and expression of structural chromosomal changes. Role of single-strand and double-strand breaks in chromosomal alterations. Fragile sites. Aneuploidy and chromosome loss. Nondisjunction.
Unit 4. DNA REPAIR MECHANISMS
DNA repair and mutagenesis. DNA repair mechanisms. Direct reversal of DNA damage. Base excision repair. Nucleotide excision repair. Mismatch repair. Tolerance to genetic damage. Regulation of mutagenesis in eukaryotic cells.
Unit 5. RANDOM AND SITE-DIRECTED MUTAGENESIS
Random mutagenesis. Site-directed mutagenesis. Applications.
Unit 6. MUTAGENS
Physicochemical nature of mutagens. Classification. Direct-acting mutagens. Indirect-acting mutagens. Promutagens. Biological mutagens. Examples.
Unit 7. CARCINOGENESIS
Nature of cancer. Key concepts on the origin of cancer. Genetic basis of cancer. DNA adducts. Proto-oncogenes. Tumour suppressor genes. Carcinogenesis as a multistep process. Genes of clinical relevance in cancer. Role of mutations in the carcinogenic process.
Unit 8. POLYMORPHISMS
Genetic variability in xenobiotic biotransformation. Polymorphisms of enzymatic loci involved in biotransformation. Cytochrome P450. Glutathione S-transferases. N-acetyltransferases. Other enzymes. Pharmacogenetic polymorphisms and susceptibility to disease. Factors influencing xenobiotic metabolism.
Unit 9. HEREDITARY SUSCEPTIBILITY TO MUTATION
Mechanisms of inherited susceptibility to mutation. Hereditary diseases characterized by defects in DNA repair: xeroderma pigmentosum and Fanconi anaemia. Hereditary diseases characterized by impaired cellular responses to genetic damage: ataxia telangiectasia and Bloom syndrome. Other diseases potentially associated with defects in the processing of damaged DNA.
Unit 10. MUTAGENICITY ASSAYS
Bacterial assays. Mammalian cell culture assays. In vivo assays in mammals and Drosophila. Use of fluorescence in situ hybridization techniques. Use of transgenic animals.
Unit 11. TEST BATTERIES
General principles. Matrix systems and hierarchical systems. Approaches to the development of a test battery. Basic recommendations. Interpretation of test battery data. Importance of controls.
Unit 12. BASIC PRINCIPLES OF BIOMONITORING
Environmental monitoring. Biological monitoring. Human biomonitoring. Biomarkers. Molecular epidemiology. Examples.
Learning activities and methodology
| Title | Hours | ECTS | Learning outcomes |
|---|---|---|---|
| Study | 65 | 2.6 | KM18, KM19, KM20 |
| Problem classes and seminars | 10 | 0.4 | CM26, KM18, KM19, KM20, SM24 |
| Self-directed learning | 3 | 0.12 | KM18, KM19, KM20 |
| Lectures | 26 | 1.04 | KM18, KM19, KM20 |
| Preparation of works | 10 | 0.4 | CM26, KM18, KM19, KM20, SM24 |
| Problem resolution | 20 | 0.8 | CM26, KM20, SM24 |
| Group tutorials | 4 | 0.16 | CM26, KM18, KM19, KM20, SM24 |
| Seminars | 5 | 0.2 | CM26, SM24 |
The course is organized around a range of learning activities, including lectures, problem-solving and case analysis sessions, seminars, and tutorials. These complementary activities are designed to support both the acquisition of theoretical knowledge and the development of analytical, problem-solving and independent learning skills.
Lectures: Lectures introduce the fundamental concepts and core contents of the course. Students are expected to complement the material covered in class through independent study. The audiovisual materials used during the lectures will be available through the Virtual Campus.
Problem-solving and case analysis sessions: The concepts covered in the lectures will be applied to the resolution of previously proposed problems and practical case studies. These activities will be carried out in small groups to encourage collaborative work, analytical thinking and the interpretation of results. The problems and case studies will be made available in advance so that students can prepare them before the sessions.
Seminars: Students will select a topic related to mutagenesis and prepare an oral presentation, which will be presented and discussed in class.
Tutorials: Tutorials are intended to answer questions, provide guidance on literature searches and support the use of the course's virtual learning tools. These sessions are intended as academic support and will not be used to introduce new course content.
Assessment
Continuous assessment activities
| Title | Weight | Hours | ECTS | Learning outcomes |
|---|---|---|---|---|
| Seminar | 25% | 1 | 0.04 | CM26, SM24 |
| Active participation | +0.3 | 0 | 0 | CM26, KM18, KM19, KM20, SM24 |
| Exams -First examination (37.5%); second examination (37.5%) | 75% | 6 | 0.24 | CM26, KM18, KM19, KM20, SM24 |
The competencies of this course will be assessed through three components:
1. Examinations
The examinations will assess the contents covered in the lectures, seminars and problem-solving sessions.
Two eliminatory examinations will be held. To pass the course, students must obtain a minimum grade of 5 in each examination.
Students who wish to improve their grade, or who obtain a grade below 5 in either examination, may take a resit examination at the end of the course. The grade obtained in the resit or grade improvement examination will replace the previous examination grade.
To be eligible for the resit examination, students must have previously completed assessment activities corresponding to at least two-thirds of the final course grade. Therefore, students whose completed assessment activities account for less than 67% of the final grade will receive a final mark of "Not Assessed".
The examination component grade will be the average of the two examination grades. A minimum average grade of 5 is required to pass this component. The examination component accounts for 75% of the final course grade.
2. Seminar
The oral presentation, writing quality, organization, clarity and overall quality of the individual and group assignments will be assessed. This component accounts for 25% of the final course grade.
3. Participation
Active participation in seminars, problem-solving sessions and other classroom activities will be assessed. Depending on the level and quality of participation, students may obtain up to 0.3 additional points added to the final course grade.
Final considerations
The course will be passed when students meet all the required assessment criteria and obtain a final grade of 5 or higher.
Students who are unable to attend an individual assessment for justified reasons and provide the appropriate supporting documentation will be entitled to take the assessment on an alternative date.
Students repeating the course will not be required to complete the teaching activities or assessment of competencies that were successfully passed in previous enrolments, starting from the second enrolment in the course.
Single assessment
Students who request single assessment will be entitled to this assessment modality.
The single assessment consists of a comprehensive examination covering the entire course syllabus (theory and problem-solving). The grade obtained in this examination represents 75% of the final course grade. A minimum grade of 5 is required to pass the course.
The assessment of the seminars will follow the same procedure as in continuous assessment. The seminar grade will account for 25% of the final course grade.
The single assessment examination will be held on the same date scheduled for the last continuous assessment examination, and the same resit system will apply.
Use of Artificial Intelligence
The use of Artificial Intelligence (AI) technologies is permitted in this course as part of the development of assignments, provided that the final work reflects a significant contribution from the student in terms of analysis and personal reflection. Students must clearly identify any parts generated using AI, specify the tools used, and include a critical reflection on how these technologies influenced both the development process and the final outcome of the assignment. Failure to disclose the use of AI will be considered a breach of academic integrity and may result in a reduction of the assignment grade or more severe disciplinary measures in serious cases.
Bibliography
Álvarez, E., Cunha, R.(Editors) DNA Adducts. Formation, Detection and Mutagenesis. Nova Biomedical Press (2010).
Brusick, D.(Editor) Methods for Genetic Risk Assessment. Lewis Publishers (1994).
Dhawan, A., Bajpayee, M. (Editors) Genotoxicity Assessment. Methods and Protocols. Humana Press (2013).
Friedberg, E.C., Walker, G.C., Siede, W., Wood, R.D., Schultz, R.A., Ellenberger, T. DNA Repair and Mutagenesis. 2nd edition. ASM Press (2005).
Kocsis, A., Molnar, H. (Editors) Genotoxicity: Evaluation, Testing and Prediction. Nova Biomedical Press (2009).
Li, A.P., Heflich, R.H. (Editors) Genetic Toxicology. CRC Press (1991).
Migliore, L. (Editor) Mutagenesi Ambientale. Zanichelli (2004).
Paz y Miño, C., Creus, A., Cabré, O., Leone, P.E. Genética Toxicológica y Carcinogénesis. PUCE/FUNDACYT (2002).
Phillips, D.H., Venitt, S. (Editors) Environmental Mutagenesis. BIOS Scientific Publishers (1995).
Sierra, L.M., Gaivao, I. (Editors) Genotoxicity and DNA Repair. A Practical Approach. Humana Press (2014).
Tardiff, R.G., Lohman, P.H.M., Wogan, G.N. (Editors) Methods to Assess DNA Damage and Repair. John Wiley & Sons (1994).
Wilson, S.L., Suk, W.A. (Editors) Biomarkers of Environmentally Associated Disease. Technologies, Concepts and Perspectives. Lewis Publishers (2002).
Web links:
https://pubmed.ncbi.nlm.nih.gov/
www.mutagenesisambiental.com/
www.eems-eu.org/
www.ems-us.org/
www.ukems.org/
Software
Not needed
Course groups and languages
The information provided is provisional until November 30. After this date, you will be able to consult the language of each group through this link. To access the information, you will need to enter the course CODE
| Type of teaching | Group | Language | Semester | Shift |
|---|---|---|---|---|
| (TE) Theory | 62 | Catalan | second semester | afternoon |
| (PAUL) Classroom practices | 621 | Catalan/Spanish | second semester | morning-mixed |
| (PAUL) Classroom practices | 622 | Catalan/Spanish | second semester | morning-mixed |