This course aims to provide an in depth understanding of the fundamental principles guiding molecular genetics approaches. Primary objectives include a clear understanding of (i) the principles underlying gene inheritance, dominance, epistasis and their consequence on the manifestation of traits (ii) the contribution of transcriptional and post-transcriptional events on gene expression, and the related techniques/approaches that enable to distinguish the two processes, (iii) the research strategies guiding the design of genetic screens, including the concept of genetic variability as a mean to understand gene regulatory networks.
Expected learning outcomes
After this course, we expect that the student will be able to (i) critically evaluate hierarchies in gene action by applying the principles of transmission genetics (ii) design genetic and molecular strategies to understand new biological processes and correctly interpret how living organisms develop under physiological and pathological conditions.
Lesson period: Second semester
(In case of multiple editions, please check the period, as it may vary)
- Multilevel gene regulation during evolution. Case studies: Sex determination in Drosophila vs mammals as examples of the different interplay of transcriptional and post-transcriptional events. Dosage compensation: hyperactivation and inactivation of chromosome X as an example of epigenetic regulation of traits. - Complex genomes and hereditability of complex traits. Genetic and physical maps: DNA polymorphisms as markers. - Concepts in positional cloning, from phenotypes to genes. Case studies: Duchenne muscular dystrophy. Genetic, cytogenetic and physical mapping, cloning and expression analysis of DMD gene and its mutations, clinical applications. - Functional genomics, from sequences to gene functions, redundancy and epistasis. Case studies: the genetics of timekeeping and environmental perception in Arabidopsis. Tools for functional genomics: sensitized genetic background screens. Quantitative effects of mutations, the molecular basis of genetic dominance. Examples of genome-enabled genetics and genome-wide association. - Research approaches to nutrigenomics, genomic imprinting and examples of nutriepigenetics.
Prerequisites for admission
An intermediate level of understanding of Mendelian genetics and molecular biology is highly recommended.
Regular attendance and active participation during classes are strongly encouraged to improve the understanding of the topics and improve communication skills. In order to facilitate active discussions, handouts will be made available before class through the Ariel website. Lectures will be strongly oriented to presenting empirical evidence to gain insights into potential mechanisms and to formulate working hypotheses. Students are invited to participate in this process, defining competing/alternative hypotheses.
Students may refer to general genetics textbooks (Griffiths et al - VII ed. - Zanichelli 2013, Russell - IV ed. - Pearson - 2014) for basic/advanced concepts in Mendelian inheritance and gene expression regulation. For more specialized topics, references to original research papers/reviews for further reading will be highlighted during classes and uploaded via Ariel.
Assessment methods and Criteria
Learning assessment will be through a written exam. Students attending the course can opt for a mid-term examination plus a second partial exam at the end of the course. The exam includes open questions (30%), charts and graphs to complete (10%) and multiple choices tests (60%). These proportions broadly reflect their contribution to the composition of the final score. Multiple choice tests are designed to verify the global understanding of concepts and definitions taught during the course, whereas open questions/charts are designed to evaluate problem solving skills. Examples of multiple-choice questions and their evaluation will be provided during the course.