Biology and Genetics (1st year)

A.Y. 2023/2024
5
Max ECTS
64
Overall hours
SSD
BIO/13
Language
Italian
Learning objectives
Lessons and laboratory practice aim at providing students with logical and methodological concepts and tools to understand:
a) the description of cells and organisms as complex adaptive systems produced by the mechanisms of evolution;
b) the nature of the processes of cell division and gametogenesis in humans;
c) structure-function relationship and molecular recognition as the basis of action of informational molecules and of expression of genetic information in cells;
d) the interrelation between continuity and variability of genetic information in living organisms;
e) the modalities of transmission of inherited traits and the mechanisms that can give rise to normal and pathological phenotypic variants in humans;
f) molecular and genetic analysis methods - in particular pre- and postnatal genetic tests - and their use in medical practice.
Expected learning outcomes
Students who have attended classes/labs are expected:
a) to be able to put the foundations of scientific reasoning into practice when expounding concepts and results of biomedical research, and to handle the relevant bibliographic and bioinformatics search tools;
b) to grasp the fundamental molecular and cellular mechanisms underlying genetic and epigenetic control of cells and organisms;
c) to master the facts of male and female gametogenesis, highlighting biological and genetic differences and effects;
d) to master the facts underlying the transmission of inherited traits and the mechanisms that regulate normal and pathological phenotypic variation in humans;
e) to be acquainted with the applications of biomolecular and genetic investigation methods to medical practice, critically illustrating their implementation in basic biomedical research, diagnostics and clinics
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

Responsible
Course syllabus
1. The fundamental features of living matter. The cell as a structural and functional unit of living matter. Classification of cells into prokaryotes (Bacteria and Archea) and eukaryotes and main structural differences between them. The derived and polysymbiotic origin of eukaryotic cells
2. Adaptation of different organisms to the environment as a result of a process of natural selection exercised on a range of modifications of information transmitted from one generation to the next. The close link between mechanisms of natural selection and development in animal evolution: EVO-DEVO
3. The cell as a complex system consisting of a very high number of macromolecules, small molecules and ions, which interact with each other to give rise to cellular structures and functions; role of weak bonds (electrostatic attractions, van der Waals forces, hydrogen bonds) in establishing interactions between molecules
4. The flow of information within the cell and from one generation to the next. Transformation of the linear information contained in the DNA nucleotide sequence into the three-dimensional information of proteins and RNAs; modulation of the biological function of proteins in response to intra- or extracellular signals through modifications of their three-dimensional structure
5. Role of domains, modules and motifs in the structure / function of proteins
6. Role of intrinsically disordered proteins / protein regions in the assembly of biomolecular condensates based on demixing of liquid phases
7. The cascade of gene information from DNA to RNA and proteins. Genes: transcriptional units that specify the structure of individual macromolecules (RNA or proteins). Similarities and differences in the organization of bacterial and eukaryotic genes
8. The different organization of the genome in prokaryotes and eukaryotes and the organization of repeated sequences in the eukaryotic genome; concept of gene family and pseudogene
9. The types of RNA present in cells and their differences from DNA with regard to size, chemical and metabolic stability and biological function
10. The mechanism of RNA synthesis (transcription) and the role of different RNA polymerases in the transcription of genes in eukaryotic cells
11. The maturation processes of primary RNA transcripts, with particular regard to splicing, capping and polyadenylation of eukaryotic messenger RNAs. Alternative splicing of pre-mRNAs results in multiple, partially different proteins
12. Regulation of gene expression, and the different levels at which it can occur. Transcription as the main point of regulation.
13. Transcriptional regulation is based on the interaction between specific base sequences present on DNA (elements in cis) and specific proteins that exert a positive or negative control on transcription (factors in trans): model, inducible and repressible prokaryotic systems
14. The regulation of transcription in eukaryotic cells as a result of the cooperation of many elements in cis and factors in trans, which modulate both the level of transcription and tissue-specificity; relationship of the condensation state of chromatin and the degree of DNA methylation with the expression of genes in eukaryotic cells.
15. Post-transcriptional mechanisms of gene expression regulation, with particular reference to the role of microRNAs (miRNAs)
16. Cell differentiation as a differential expression of a single genetic patrimony common to all the cells of an organism
17. The genetic code: deciphering, properties and biological implications
18. Protein synthesis, with reference to the coupling mechanism between amino acids and codon on messenger RNA and to the enzymatic mechanism of polymerization of amino acids. The essential role of aminoacyl-tRNA-synthetases in ensuring matching fidelity.
19. Ribosomes are Brownian motors. The differences between bacterial and eukaryotic ribosomes. Antibiotics that differentially inhibit bacterial and eukaryotic ribosomes, and their possible therapeutic applications
20. The different phases of ribosomal protein synthesis (translation). Codon-anticodon recognition mode and translational wobbling. How the accuracy of the translation process is guaranteed in the absence of proofeading
21. Post-translational modifications of polypeptide chains and cellular site in which they occur; trafficking of proteins between different cellular compartments and main mechanisms of distribution of polypeptide chains towards intracellular, membrane or extracellular sites.
22. Role of ubiquitination in protein degradation via the Ubiquitin-Proteasome system, and in other functional modifications of proteins
23. Mechanisms of fission, fusion and vesicular traffic at the base of the secretory pathway and endocytosis
24. Basic mechanisms of apoptosis
25. The communication between cells in multicellular organisms, the exchange of chemical signals with justacrine, autocrine, paracrine or endocrine action.
26. The mechanisms of signal transduction in eukaryotic cells. The recurrent role played in these processes by protein kinases and antagonistic protein phosphatases, G proteins with the function of ON / OFF switches, adapter proteins and scaffolds, second messengers
27. Examples of signaling pathways: G-protein coupled receptor (GPCR) associated receptors, protein kinase-associated receptors (cytokine and interferon receptors), and tyrosine kinase receptors (RTKs)
28. Eukaryotic cell cycle and the main metabolic and cytological events that characterize its phases.
29. Control of progression along the cell cycle (control of growth, proliferation and cell survival) as a result of the interaction between extracellular signals, intracellular mechanisms and systems of detection and response to errors in the cycle (checkpoint)
30. The neoplastic cell: mutations and epigenetic alterations affecting the genes for the positive (proto-oncogenic) or negative (tumor suppressor) controllers of the cell cycle and proliferation at the base of tumorigenesis.
31. Viruses: classification based on the type of nucleic acid and the type of cell infected; viruses as obligate genetic parasites; mechanisms through which oncogenic viruses can alter the mechanisms of regulation of cell proliferation
32. Prions and their mechanism of action in transmissible neurological diseases
33. Principles and technologies of genetic engineering (restriction enzymes, vectors, Southern blotting, PCR) as a means for the isolation and study of genes. The techniques used for the production of recombinant proteins in bacterial, animal and plant cells (cDNA, expression vectors, methods of introduction into cells)
34. Examples of medical-pharmaceutical application of genetic engineering and methodological basis of gene therapy
Prerequisites for admission
None
Teaching methods
Each credit includes hours of frontal and innovative teaching. The innovative teaching activities consist in the deepening of specific topics of the course syllabus, that will be selected by the students and the teacher. Such activity will be carried out in active collaboration between students and teacher.
Lectures with audiovisual support (Powerpoint slide shows with multimedia elements), streamed and videotaped via the Teams platform.
Group work on a voluntary basis, in the form of short presentations given by groups of students to the class (peer to peer seminars).
Short laboratory practice (mandatory for access to idoneative tests).
All teaching materials are uploaded to the Ariel website of the course.

On-line non-evaluative tests in the form of competition (gamification via the Kahoot! platform)
Teaching Resources
SUGGESTED TEXTBOOKS

B. ALBERTS, K. HOPKIN, A. JOHNSON et al.,
L'essenziale di Biologia Molecolare della cellula - 5a Edizione italiana, Zanichelli 2020

OR

J. IWASA, W. MARSHALL
Biologia Cellulare e Molecolare di Karp - 6a Edizione italiana, Edises 2021


FURTHER READING

H. LODISH, A. BERCK, C.A. KAISER et al.,
Molecular Cell Biology - 9th Edition, MacMillan 2021

B. ALBERTS, R. HEALD, A. JOHNSON, et al.,
Molecular Biology of the Cell - 7th Edition, W. W. Norton & Company 2022

WWW SITES
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books
http://www.nature.com/scitable
http://www.dnaftb.org/dnaftb
Assessment methods and Criteria
At the end of the Biology course students have the option of accessing written + oral idoneative tests, scheduled to coincide with the regular summer and autumn sessions (June-July and September, respectively), by registering through SIFA.
The written part, lasting 1 hour, is made up of 30 quizzes or short open questions (worth one point each). Students who obtain a sufficient score in the written test (equal to or greater than 18/30) have access to the oral examination.

At the end of the Genetics course, students who have passed the Biology idoneative test can take the equivalent Genetics idoneative test (written + oral), by enrolling in the regular Biology and Genetics winter sessions.

The student who has passed both idoneative tests can have the Biology and Genetics mark registered, as the average of the two partial marks.

Students who have not taken and passed both idoneative tests, will be able to take a 2-hour written exam, which will focus on the program of the entire Biology and Genetics integrated course (60 quizzes / short open questions), by enrolling in the official Biology and Genetics sessions, starting from the winter sessions.
As for the idoneative tests, only students who pass the written exam will have access to the oral exam.

In all cases, students who have presented a seminar will see their Biology score increased by 0-2 points.