C8495 - Model Organisms

Learning outcomes

"At the end of the course, the student has in-depth knowledge of the experimental approaches used in genetic analysis aimed at the in vivo functional dissection of complex biological processes. In particular, the student is able to: - Analyze and expertly discuss experimental results obtained through genetic methods aimed at studying the function of genes involved in a biological process of interest using eukaryotic model organisms. - Propose genome-scale investigation strategies for the functional genetic dissection of complex biological processes applied to model organisms. "

Course contents

Mutation as main tool of genetic functional analysis aimed at the genetic dissection of a complex biological process.

Description of the classes of loss of function (hypomorphic, amorphic or null) and gain of function (hypermorphic, neomorphic, antimorphic or dominant-negative) alleles and genetic strategies for their characterization.

Genome wide genetic screen as strategy for functional dissection of biological processes.

Main genetic model systems (unicellular: Saccharomyce cerevisiae; invertebrates:Caenorhabditis elegans, Drosophila melanogaster and vertebrates: zebrafish, mouse) and their peculiar methods and use to perform genetic screens alchilant or insertional (retroviral vectors, transposons) mutagenesis.

-Screen to identify alleles that modify (suppress or enhance) a phenotype due to a primary mutation (S. cerevisiae; C. elegans, D. melanogaster, mouse)

-Screen to identify zygotic and maternal lethal mutations (C. elegans, D. melanogaster, zebrafish, mouse)

-Large scale screen (S. cerevisiae; C. elegans)

-Synthetic lethality screen (S. cerevisiae; C. elegans)

-Non-allelic non-complementation screen (C. elegans)

Readings/Bibliography

PowerPoint presentations in pdf format, reviews and original scientific articles in electronic format.

Reference book:
Philip Meneely
Analisi genetica avanzata.
ed. MacGraw-Hill
anno: 2012
ISBN/EAN: 9788838665196

Teaching methods

The teaching consists of 6CFU: 5CFU of lectures and 1 CFU, corresponding to 15 hours, of practical work in a laboratory. The lectures will be supported by projection of PowerPoint presentations that will be provided to students in pdf format. During the laboratory the students will apply protocols for immunofluorescent detection of molecular markers suitable for the analysis of the phenotypic effect of mutant alleles of a gene important for the development of the nervous system.

“In considerazione delle tipologie di attività e metodi didattici adottati, la frequenza di questa attività formativa richiede lo svolgimento di tutti gli studenti dei moduli 1 e 2 in modalità e-learning e la partecipazione al modulo 3 di formazione specifica sulla sicurezza e salute nei luoghi di studio. Indicazioni su date e modalità di frequenza del modulo 3 sono consultabili nella apposita sezione del sito web di corso di studio.”

Assessment methods

- To know the effects on gene function of the main classes of mutant alleles, loss and gain of function, and genetic techniques to discriminate between the different types of alleles.

- To know the main methods used to perform genome wide experimental mutagenesis using the most used animal model systems (invertebrate and vertebrate)

- Know the main approaches of genetic mutational screen to achieve the complete genetic dissection of the molecular mechanism controlling the biological process of interest, in particular methodologies applied to the main genetic models animals (invertebrate and vertebrate)

The final grade for the module 1 - Functional Genetics is defined by the average of the marks obtained in the written discussion of two open-ended questions on topics related to the main objectives of the course.

Teaching tools

PowerPoint presentations

Office hours

See the website of Roberto Bernardoni