Biology and Genetics

A.Y. 2024/2025
10
Max ECTS
134
Overall hours
SSD
BIO/11 BIO/13
Language
Italian
Learning objectives
The course aims to provide basic knowledge of:
- the structure and function of the macromolecules depositary of genetic information;
- the molecular basis of the expression of genetic information and its regulation;
- the mechanisms that control cell differentiation;
- the concepts of continuity and variability of genetic information in living organisms;
- the mode of transmission of hereditary characters and the mechanisms that can give rise to phenotypic variants in humans;
- the methodology of genetic analysis and its usefulness in medical practice
- the basic concepts of descriptive and inferential statistic and the basic concepts of probability theory.
Expected learning outcomes
· The student should be able to demonstrate adequate knowledge and understanding of the basic concepts of cellular and molecular biology.
· The student should be able to accurately describe the eukaryotic cell both morphologically and functionally. In particular, he must have acquired sufficient knowledge to explain the mechanisms of organization, expression and transmission of genetic information and the biological variability induced by mutations and the recombination process.
· The student should be able to make assumptions based on experimental data provided in the form of biological problems
· The student should be able to interpret and adequately translate the possible applications of the acquired biological knowledge in the medical field
· the student shold be able to integrate the acquired knowledge to explain the existing structure / function relationship for each component or cellular compartment and their application in the various biological systems and disease models
· The student should be able to make assumptions based on genetic data provided in the form of pedigrees or allele frequencies
· The student should be able to expose and explain, in a simple but rigorous way, the biological processes that are the basis of life.
· The student must be able to read, interpret and critically comment on a scientific article
· The student should be able to interpret statistical descriptive analysis and to apply probability methods to solve practical problems
Single course

This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.

Course syllabus and organization

Single session

Prerequisites for admission
The prerequisites consist of Cellular and Molecular biology, Genetics, needed to pass the entrance test to CdS. Furthermore, a deeper knowledge of the chemical structure of the main biological macromolecules is required.
Assessment methods and Criteria
The final written exam is structured in:
Section i: 12 multiple choice questions on Cellular Biology (tot. 30 marks)
Section ii. 24 multiple choice questions on Molecular Biology (tot. 30 marks)
Section iii: 24 multiple choice questions on Genetics (tot. 30 marks)

The final mark will be calculated on the average of the marks weighted for the credits of each module.
Furthermore, the students will perform a team-based learning (TBL) test concerning the topics covered in the practical section aimed at deepening the knowledge on the most recent cellular/molecular biology and genetics techniques (maximum 2 points).
Use of pocket calculator is allowed.
The test results will be published on the MyARIEL website of the course.
Biologia molecolare
Course syllabus
Molecular Biology Module
· DNA
DNA structure and function
DNA as the repository of the genetic information
Form and size of DNA molecules (B-helix and alternative structures)
Chromosome and chromatin structure
DNA replication
Biological importance of DNA synthesis in the transmission of the genetic information from one generation to another (replication) and in the "repair" of "damages" to DNA molecules.
Problems posed at the molecular level by the characteristics of DNA and DNA polymerases
Molecular mechanism of replication
DNA repair
Mechanisms of occurrence of mutations in DNA:
- types of possible DNA damage
Mechanisms of molecular repair:
- repair of damage on single strand
- repair of double strand breaks
=> Team Based Learning activity to consolidate and verify the topic
· RNA
RNA structure and function
Molecular heterogeneity of RNA: coding and non-coding RNA
Transcription
Mechanisms of transcription in prokaryotes and eukaryotes:
- promoters and choice of the strand to be transcribed
- the RNA polymerases
- the transcription cycle: initiation, elongation, termination
RNA processing
Structure of prokaryotic genes
Structure of eukaryotic genes: the discontinuous gene.
RNA maturation pathways:
- terminal modifications: capping and polyadenylation
- splicing
- cleavage
- chemical modifications and editing
· PROTEIN
Translation
Definition and characteristics of the genetic code
Decoding the genetic code:
- role of tRNAs
- wobbling
- aminoacyl-tRNA synthetase and supercode
Ribosomes as the site of protein synthesis
Molecular mechanism of protein synthesis.
Post-translational modifications (PTM) of proteins (outline)
General features
Proteolytic cut
Main PTMs involving the addition of functional groups:
- phosphorylation
- acylation
- alkylation
- glycosylation
PTM involving the addition of other proteins or peptides:
- ubiquitylation
· REGULATION OF GENE EXPRESSION
General principles of gene expression regulation
The different steps in which the regulation of gene expression can take place: main differences between eukaryotes and prokaryotes
Transcriptional regulation
- regulation of transcription initiation:
- general and specific transcription factors
- enhancer, silencer and insulator
- signal integration and combinatorial control
Epigenetics
Definition of epigenetics
Epigenome and epigenetic mechanisms:
- DNA methylation
- post-translational modifications of the histone tails
- chromatin remodeling complexes
- ncRNA
Gene silencing
- X-inactivation
Post-transcriptional regulation
Gene regulation at the level of mRNA maturation, localization and stability:
- alternative polyadenylation
- alternative splicing
- editing
=> examples of physiological and pathological processes, therapeutic strategies based on ASO (Anti-Sense Oligonucleotides)
Regulation of the translation start phase:
- transcript-specific
- global
- IRES (Internal Ribosome Entry Site)
Regulatory RNAs:
- RNA Interference (RNAi) and microRNAs
- long non-coding RNAs: biological functions, mechanisms of action and regulation
Insights and Team Based Learning (TBL) activities on applications of molecular biology in the medical field:
- Today's molecular biology techniques (NGS, organoids, gene therapy, ...)
- RNA-medicines (ASO, siRNA, mRNA drugs and vaccines, ...)
- Challenges and successes in human CRISPR/Cas trials
Teaching methods
Frontal lectures: 12 hours in class for cellular Biology; 36 hours in class for molecular biology; 36 hours in class for Genetics; during which the students can intervene with questions.
Practical exercises: 16 hours in class for cellular Biology; 16 hours in class for molecular biology; 16 hours in class for Genetics
All the lectures are supported by PowerPoint presentations, made available to the student on the MyARIEL website. The textbook is recommended as a resource to help clarify concepts.
Teaching Resources
BIOLOGIA CELLULARE e MOLECOLARE

Titolo: L'essenziale di Biologia Molecolare della Cellula, V edizione / 2020
Autori: Alberts B., Johnson A., Lewis J., Raff M., Roberts K., Walter P.
Casa editrice: ZANICHELLI
ISBN 9788808520241

Titolo: Biologia Cellulare e Molecolare di Karp. Concetti ed Esperimenti, VI edizione / 2021
Autori: J. Iwasa, W. Marshall
Casa editrice: EdiSES
ISBN 9788836230259

Titolo: Biologia e Genetica, IV edizione / 2020
Autori: De Leo - Fasano - Ginelli · 2020
Casa editrice: EdiSES
ISBN 9788836230013

Titolo: Molecole, Cellule e Organismi, II edizione / 2022
Autori: P. Bonaldo, C. Brancolini, E. Ginelli, M. Malcovati, A. Poletti et al.
Casa Editrice: EdiSES
ISBN 9788836231010

GENETICA

Titolo: Principi di Genetica
Autore: D.P. Snustad, M.J. Simmons
Edizione: EdiSES, NAPOLI V/2014

Titolo: Genetica
Autore: BA Pierce
Edizione: ZANICHELLI, BOLOGNA, seconda edizione italiana

Titolo: Biologia e Genetica, III Ed.
Autore: De Leo, Ginelli, Fasano -
Edizione: EdiSES, NAPOLI
Biologia applicata
Course syllabus
Cellular Biology Module
- Intracellular compartment morphological and functional organization and related diseases: nucleo and nuclear transport, endomembrane system, (Smooth and Rough Endoplasmic reticulum, Golgi apparatus)
-Proteostasys manteinance: ERD and UPR
- Glycosylation process
- Protein sorting
-Exocytosis, endocytoses, autophagy mechanisms
-Apoptosi and caspases
- Principles of cellular communication: signal molecules, receptors, secondary messengers
Practical activity: Team Based Learning activity on applied techniques of Cellular Biology

Genetic Module
- Gregor Mendel and the concept of digital inheritance
- Extensions to Mendelian heredity: Multiple alleles, sex-related characters, epistasis, incomplete dominance, codominance, lethal genes, conditional alleles, alleles with dose effect, incomplete penetrance, variable expressivity, characters influenced by sex, genes associated with the same chromosome.
- Sex-related characters
- Biochemical genetics
- Genetic and linkage maps (Morgan, Sturtevant). Crossing-over and recombination. Relationship between distance between genes and probability of crossing-over. Interference.
- Blood groups in humans.
- Family trees. Autosomal dominant inheritance, autosomal recessive, dominant X-linked, linked to recessive X
- Genetic of populations.
- The human genome, organization and evolution.
- Genetic modifications of cells and organisms. Genetic engineering: bacteria, plasmids, restriction enzymes
- Genes and molecules of the immune system.
- Genetic mapping and physical mapping,
- The genetic basis of tumors
- Genetic of twins.
-Cromosomes and cell reproduction
- Chromosomal variability
- Molecular Genetic Analysis and Biotechnology:
- Practical activity: Team Based Learning activity on applied techniques of Genetics
Teaching methods
Frontal lectures: 12 hours in class for cellular Biology; 36 hours in class for molecular biology; 36 hours in class for Genetics; during which the students can intervene with questions.
Practical exercises: 16 hours in class for cellular Biology; 16 hours in class for molecular biology; 16 hours in class for Genetics
All the lectures are supported by PowerPoint presentations, made available to the student on the MyARIEL website. The textbook is recommended as a resource to help clarify concepts.
Teaching Resources
BIOLOGIA CELLULARE e MOLECOLARE

Titolo: L'essenziale di Biologia Molecolare della Cellula, V edizione / 2020
Autori: Alberts B., Johnson A., Lewis J., Raff M., Roberts K., Walter P.
Casa editrice: ZANICHELLI
ISBN 9788808520241

Titolo: Biologia Cellulare e Molecolare di Karp. Concetti ed Esperimenti, VI edizione / 2021
Autori: J. Iwasa, W. Marshall
Casa editrice: EdiSES
ISBN 9788836230259

Titolo: Biologia e Genetica, IV edizione / 2020
Autori: De Leo - Fasano - Ginelli · 2020
Casa editrice: EdiSES
ISBN 9788836230013

Titolo: Molecole, Cellule e Organismi, II edizione / 2022
Autori: P. Bonaldo, C. Brancolini, E. Ginelli, M. Malcovati, A. Poletti et al.
Casa Editrice: EdiSES
ISBN 9788836231010

GENETICA

Titolo: Principi di Genetica
Autore: D.P. Snustad, M.J. Simmons
Edizione: EdiSES, NAPOLI V/2014

Titolo: Genetica
Autore: BA Pierce
Edizione: ZANICHELLI, BOLOGNA, seconda edizione italiana

Titolo: Biologia e Genetica, III Ed.
Autore: De Leo, Ginelli, Fasano -
Edizione: EdiSES, NAPOLI
Biologia applicata
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 6
Practicals: 32 hours
Lessons: 32 hours
: 18 hours
Professor: Biasin Mara
Shifts:
Gruppo 1
Professor: Biasin Mara
Gruppo 2
Professor: Biasin Mara
Turno
Professor: Biasin Mara
Biologia molecolare
BIO/11 - MOLECULAR BIOLOGY - University credits: 4
Practicals: 16 hours
Lessons: 24 hours
: 12 hours
Professor: Caccia Sonia
Shifts:
Gruppo 1
Professor: Caccia Sonia
Gruppo 2
Professor: Caccia Sonia
Turno
Professor: Caccia Sonia
Educational website(s)
Professor(s)