Molecular genetics

A.A. 2020/2021
Crediti massimi
Ore totali
Obiettivi formativi
This course provides an exhaustive overview of the fundamental principles guiding molecular genetics approaches. Key learning objectives include:
- understanding the concept of inheritance of genetic information and genes action, including dominance, epistasis and their contribution to the manifestation of traits;
- understanding the contribution of transcriptional and post-transcriptional events toward gene expression, and the related techniques/approaches that enable to distinguish between these two processes;
- understanding the strategies and the design of genetic screens, including the use of genetic variability as a means to understand gene regulatory networks.
Risultati apprendimento attesi
After this course, the student will be able to:
- critically evaluate and describe hierarchies in gene action and regulation by applying the principles of transmission genetics;
- design genetic experiments as a mean to gain molecular insights into biological processes and support/reject working hypothesis;
- correctly interpret and communicate results pertaining gene regulation under physiological and pathological conditions.
Programma e organizzazione didattica

Edizione unica

Secondo semestre
Le lezioni verranno svolte in modalità online via Microsoft Teams, in modo sincrono o asincrono. Sono previste sessioni settimanali online dedicate a domande degli studenti, discussione e approfondimenti sui vari argomenti. Le lezioni registrate sono rese sempre disponibili su Ariel e il gruppo Team.

Gli esami scritti sono in presenza con la possibilità di sostenere l'esame in remoto (orale) per chi è impossibilitato a raggiungere l'università.

L'esame, in particolare, sarà volto a:
- accertare il raggiungimento degli obiettivi del corso in termini di conoscenza e capacità di comprensione;
- accertare la capacità di applicare conoscenza e comprensione e verificare l'autonomia di giudizio attraverso la discussione degli argomenti oggetto delle lezioni;
- accertare la padronanza del linguaggio specifico che attiene all'ambito della genetica e la capacità di esporre gli argomenti in modo chiaro e logico, con i dovuti collegamenti al contenuto di altri corsi di insegnamento del Corso di laurea.
- 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.
An intermediate level of understanding of Mendelian genetics and molecular biology is highly recommended.
Metodi didattici
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.
Materiale di riferimento
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.
Modalità di verifica dell’apprendimento e criteri di valutazione
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.
Lezioni: 48 ore
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Piano 5 Torre A, Via Celoria 26
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