Molecular genetics
A.A. 2024/2025
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.
- 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.
- 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.
Periodo: Secondo semestre
Modalità di valutazione: Esame
Giudizio di valutazione: voto verbalizzato in trentesimi
Corso singolo
Questo insegnamento può essere seguito come corso singolo.
Programma e organizzazione didattica
Edizione unica
Responsabile
Periodo
Secondo semestre
Programma
- Human genome organization. Genomic, chromosomal and gene mutations. Genetic diseases with mendelian and non mendelian inheritance. Examples of genomic imprinting and mitochondrial diseases. Basic concepts of nutriepigenetics.
- 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.
- Role of SRY in sex determination in mammals. Mutations causing "sex reversal".
- Complex genomes and hereditability of complex traits. Genetic and physical maps: DNA polymorphisms as markers.
- 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.
- 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.
- Role of SRY in sex determination in mammals. Mutations causing "sex reversal".
- Complex genomes and hereditability of complex traits. Genetic and physical maps: DNA polymorphisms as markers.
- 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.
Prerequisiti
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 MyAriel website.
Materiale di riferimento
Teaching slides presented will be provided during the course via the MyAriel website. Students may refer to general genetics textbooks for basic/advanced concepts in Mendelian inheritance and gene expression regulation (Griffiths et al - VIII ed. - Zanichelli 2021, Russell - V ed. - Pearson - 2019) as well as for human genetics (Thompson & Thompson, Genetics in Medicine, 8th Edition).
For more specialized topics, references to original research papers/reviews for further reading will be highlighted during classes and uploaded via myAriel.
For more specialized topics, references to original research papers/reviews for further reading will be highlighted during classes and uploaded via myAriel.
Modalità di verifica dell’apprendimento e criteri di valutazione
Learning assessment will be through a written exam.
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 scientific language and problem solving skills. Duration of full exam: 2 hours. Students attending the course can opt for a mid-term partial exam (1 hour) plus a second partial exam (1 hour) 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 scientific language and problem solving skills. Duration of full exam: 2 hours. Students attending the course can opt for a mid-term partial exam (1 hour) plus a second partial exam (1 hour) at the end of the course.
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