Biology and Genetics (1st year)
A.Y. 2020/2021
Learning objectives
Lectures and practical laboratories aim at providing students with:
a) the description of cells and organisms as complex adaptive systems produced by the mechanisms of evolution and of the processes of cell division and gametogenesis in humans;
b) the comprehension of structure-function relationship and molecular recognition as the key principles underlying the action of informational molecules and the expression of genetic information in cells;
c) the concepts of continuity and variability of genetic information in living organisms;
d) the understanding of the modes of transmission of inherited traits and the mechanisms that give rise to normal and pathological phenotypic variation in humans;
e) foundations of molecular and genetic analysis methodology and its impact on medical practice, and the applications of pre- and post-natal genetic testing.
a) the description of cells and organisms as complex adaptive systems produced by the mechanisms of evolution and of the processes of cell division and gametogenesis in humans;
b) the comprehension of structure-function relationship and molecular recognition as the key principles underlying the action of informational molecules and the expression of genetic information in cells;
c) the concepts of continuity and variability of genetic information in living organisms;
d) the understanding of the modes of transmission of inherited traits and the mechanisms that give rise to normal and pathological phenotypic variation in humans;
e) foundations of molecular and genetic analysis methodology and its impact on medical practice, and the applications of pre- and post-natal genetic testing.
Expected learning outcomes
Students who have attended classes/labs are expected:
a) to put the basics 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 applications in pre- and post-natal settings.
a) to put the basics 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 applications in pre- and post-natal settings.
Lesson period: Second semester
Assessment methods: Esame alla fine del gruppo
Assessment result: Inserire codice AF
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
In the first semester the lectures will take place as concurrent classroms:
·in the classroom with a limited number of students, who have previously booked using the "lezioniUnimi" app with the unimi e-mail account username and password; (https://www.unimi.it/it/studiare/frequentare-un-corso-di-laurea/seguire-il-percorso-di-studi/orari-delle-lezioni) and at the same time through the "Teams platform" for online students ;
· The student must wear a surgical mask for the entire duration of his/her stay in the classroom and to sit using every other free seat
· the lectures will be recorded and made available on the teacher's Ariel website for students with proven difficulties to connect during classes
· the lectures will take place at the San Paolo Hospital on the 3rd floor of Blocco C. Students must access classrooms via Blocco C and exit via the side blocks (students leaving Pauling and Fleming rooms towards Blocco B and students leaving Curie, Golgi and Pasteur rooms towards Blocco A).
Students must enter from the main hall (R floor) of the San Paolo hospital and undergo body temperature measurement by the infrared cameras. It is strongly recommended to use the stairs for classrooms entering and/or leaving.
NB for any further information check the unimi.it website: (Home Studiare Frequentare un corso di laurea Seguire il percorso di studi Orari delle lezioni)
·in the classroom with a limited number of students, who have previously booked using the "lezioniUnimi" app with the unimi e-mail account username and password; (https://www.unimi.it/it/studiare/frequentare-un-corso-di-laurea/seguire-il-percorso-di-studi/orari-delle-lezioni) and at the same time through the "Teams platform" for online students ;
· The student must wear a surgical mask for the entire duration of his/her stay in the classroom and to sit using every other free seat
· the lectures will be recorded and made available on the teacher's Ariel website for students with proven difficulties to connect during classes
· the lectures will take place at the San Paolo Hospital on the 3rd floor of Blocco C. Students must access classrooms via Blocco C and exit via the side blocks (students leaving Pauling and Fleming rooms towards Blocco B and students leaving Curie, Golgi and Pasteur rooms towards Blocco A).
Students must enter from the main hall (R floor) of the San Paolo hospital and undergo body temperature measurement by the infrared cameras. It is strongly recommended to use the stairs for classrooms entering and/or leaving.
NB for any further information check the unimi.it website: (Home Studiare Frequentare un corso di laurea Seguire il percorso di studi Orari delle lezioni)
Course syllabus
1. Fundamental characteristics of living matter; the cell as the structural and functional unity of living matter and minimal entity to which the fundamental and general characteristics of the living state are attributable; the classification of cells in prokaryotic and eukaryotic and main structural differences between them.
2. Adaptation of different organisms to the environment as a natural selection process exercised on a range of changes in information transmitted from one generation to another.
3. The cell as a unit constituted by a very high number of macromolecules, small molecules and ions, which interact specifically with each other to give rise to cellular structures; the 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 another; transformation of the linear information contained in the nucleotide sequence of DNA into the three-dimensional information of proteins and RNAs; modifications of proteins three-dimensional structure that can modulate their biological function in response to intra- or extracellular signals.
5. The role of domains, modules and motifs in protein structure/function.
6. The role played by intrinsically disordered proteins and protein regions in the assembly of biomolecular condesates based on liquid-liquid phase separation physics
7. The experiments that allowed it to be identified the DNA as chemical compound that holds the genetic information
8. The relationships between structure and function of DNA; DNA denaturation and renaturation: the base composition of DNA, its information content and its organization; nucleic acid hybridization in vivo and in vitro.
9. Relation between the DNA content and the complexity of the organisms; division of genetic information among multiple DNA molecules (chromosomes) in eukaryotic organisms.
10. DNA compaction in the nucleus of eukaryotic cells; the organization and the different levels of chromatin condensation.
11. The biological role of DNA replication; the experiment of Meselson and Stahl.
12. The semi-conservative replication: the different protein components involved in the replication; the processes that take place at level of the leading strand and the lagging strand of the replicative fork; the role of telomerases; the mechanisms that ensure DNA replication fidelity.
13. The biotechnological applications of DNA replication: Polymerase Chain Reaction (PCR) and DNA sequencing
14. DNA: organization into discrete units (genes) that specify the structure of individual macromolecules (RNA or proteins); the structural differences between prokaryotic and eukaryotic genes.
15. 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.
16. Types of RNA present in cells: their differences with respect to DNA in terms of molecular size, chemical and metabolic stability and biological function.
17. The mechanism of RNA synthesis (transcription) and the role of the different RNA polymerases in the transcription of genes in eukaryotic cells.
18. The maturation processes of the primary RNA transcripts, with particular regard to the splicing, capping and polyadenylation of eukaryotic messenger RNAs; examples of alternative splicing of primary transcripts and their derived partially different proteins
19. Deciphering the genetic code: genetic code properties and biological implications.
20. The protein synthesis, with reference to the strategy of polymerization of amino acids, to the coupling system between amino acids and codons on messenger RNA, and to the source of the energy necessary for the formation of peptide bonds; the biological function of aminoacyl-tRNA synthases.
21. The biological role and structure of ribosomes, highlighting the differences between prokaryotic, eukaryotic and mitochondrial ribosomes: the different sensitivity to antibiotics that inhibit the synthesis of proteins and possible therapeutic applications.
22. The different phases of the protein synthesis process (translation) and the modalities of codon-anticodon recognition, and how accuracy is obtained in the absence of proofreading
23. Post-translational modifications of polypeptide chains and cellular site in which they occur; protein trafficking among the different cellular compartments, and main mechanisms for sorting polypeptide chains towards intracellular, membrane or extracellular sites.
24. The role of ubiquitination in the degradation of proteins and in other functional modifications of proteins
25. Regulation of gene expression (regulation of protein synthesis) and different levels at which it can occur: different biological significance that it assumes in prokaryotic cells and multicellular eukaryotic organisms.
26. The regulation mechanism at the level of transcription based on the interaction between specific base sequences present on DNA (cis elements) and specific proteins that exercise a positive or negative control over transcription (trans factors): inducible and repressible prokaryotic models.
27. The transcription regulation in eukaryotic cells as the result of the cooperation of many in cis elements and in trans factors, which modulate both the level of transcription and the tissue-specificity; relationship of the condensation state of chromatin and the degree of DNA methylation with the expression of genes in eukaryotic cells.
28. Post-transcriptional mechanisms of gene expression regulation, with particular reference to the role of microRNAs (miRNAs)
29. Mechanisms of fission, fusion and trafficking of membranes underlying the secretory pathway and endocytosis
30. Basic mechanisms of apoptosis
31. Communication between cells in multicellular organisms through the exchange of chemical signals with autocrine, paracrine or endocrine action.
32. Signal transduction mechanisms within eukaryotic cells and the central role played in these processes by protein kinases and protein phosphatases, G-proteins, adapter proteins and scaffolds, second messengers.
33. Eukaryotic cell division cycle and metabolic and cytological events that characterize its phases.
34. Cell cycle progression control (cell growth and proliferation control) as a result of the interaction among extracellular signals, intracellular mechanisms and systems of detection of, and response to, errors (checkpoints).
35. The mutations and epigenetic alterations affecting the genes for the different positive (proto-oncogenic) or negative (tumor suppressor) controllers of the cell cycle and proliferation and their implication in tumorigenesis
36. The cell differentiation as a differential expression of a unique gene set common to all cells of the same organism.
37. The virus: classification based on the type of nucleic acid and the type of cell infected; the viruses as obligate genetic parasites; the mechanisms by which oncogenic viruses can alter the mechanisms of regulation of cell proliferation.
38. The prions and how they are thought to be the cause of transmissible neurological diseases.
39. The principles and technologies of genetic engineering (restriction enzymes, vectors, Southern blotting, PCR) as a means of isolating and studying genes.
40. The techniques used for the production of recombinant proteins in bacterial, animal and plant cells (cDNA, expression vectors, introduction methods in cells).
41. Examples of medical-pharmaceutical application of genetic engineering and biological basis of gene therapy.
2. Adaptation of different organisms to the environment as a natural selection process exercised on a range of changes in information transmitted from one generation to another.
3. The cell as a unit constituted by a very high number of macromolecules, small molecules and ions, which interact specifically with each other to give rise to cellular structures; the 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 another; transformation of the linear information contained in the nucleotide sequence of DNA into the three-dimensional information of proteins and RNAs; modifications of proteins three-dimensional structure that can modulate their biological function in response to intra- or extracellular signals.
5. The role of domains, modules and motifs in protein structure/function.
6. The role played by intrinsically disordered proteins and protein regions in the assembly of biomolecular condesates based on liquid-liquid phase separation physics
7. The experiments that allowed it to be identified the DNA as chemical compound that holds the genetic information
8. The relationships between structure and function of DNA; DNA denaturation and renaturation: the base composition of DNA, its information content and its organization; nucleic acid hybridization in vivo and in vitro.
9. Relation between the DNA content and the complexity of the organisms; division of genetic information among multiple DNA molecules (chromosomes) in eukaryotic organisms.
10. DNA compaction in the nucleus of eukaryotic cells; the organization and the different levels of chromatin condensation.
11. The biological role of DNA replication; the experiment of Meselson and Stahl.
12. The semi-conservative replication: the different protein components involved in the replication; the processes that take place at level of the leading strand and the lagging strand of the replicative fork; the role of telomerases; the mechanisms that ensure DNA replication fidelity.
13. The biotechnological applications of DNA replication: Polymerase Chain Reaction (PCR) and DNA sequencing
14. DNA: organization into discrete units (genes) that specify the structure of individual macromolecules (RNA or proteins); the structural differences between prokaryotic and eukaryotic genes.
15. 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.
16. Types of RNA present in cells: their differences with respect to DNA in terms of molecular size, chemical and metabolic stability and biological function.
17. The mechanism of RNA synthesis (transcription) and the role of the different RNA polymerases in the transcription of genes in eukaryotic cells.
18. The maturation processes of the primary RNA transcripts, with particular regard to the splicing, capping and polyadenylation of eukaryotic messenger RNAs; examples of alternative splicing of primary transcripts and their derived partially different proteins
19. Deciphering the genetic code: genetic code properties and biological implications.
20. The protein synthesis, with reference to the strategy of polymerization of amino acids, to the coupling system between amino acids and codons on messenger RNA, and to the source of the energy necessary for the formation of peptide bonds; the biological function of aminoacyl-tRNA synthases.
21. The biological role and structure of ribosomes, highlighting the differences between prokaryotic, eukaryotic and mitochondrial ribosomes: the different sensitivity to antibiotics that inhibit the synthesis of proteins and possible therapeutic applications.
22. The different phases of the protein synthesis process (translation) and the modalities of codon-anticodon recognition, and how accuracy is obtained in the absence of proofreading
23. Post-translational modifications of polypeptide chains and cellular site in which they occur; protein trafficking among the different cellular compartments, and main mechanisms for sorting polypeptide chains towards intracellular, membrane or extracellular sites.
24. The role of ubiquitination in the degradation of proteins and in other functional modifications of proteins
25. Regulation of gene expression (regulation of protein synthesis) and different levels at which it can occur: different biological significance that it assumes in prokaryotic cells and multicellular eukaryotic organisms.
26. The regulation mechanism at the level of transcription based on the interaction between specific base sequences present on DNA (cis elements) and specific proteins that exercise a positive or negative control over transcription (trans factors): inducible and repressible prokaryotic models.
27. The transcription regulation in eukaryotic cells as the result of the cooperation of many in cis elements and in trans factors, which modulate both the level of transcription and the tissue-specificity; relationship of the condensation state of chromatin and the degree of DNA methylation with the expression of genes in eukaryotic cells.
28. Post-transcriptional mechanisms of gene expression regulation, with particular reference to the role of microRNAs (miRNAs)
29. Mechanisms of fission, fusion and trafficking of membranes underlying the secretory pathway and endocytosis
30. Basic mechanisms of apoptosis
31. Communication between cells in multicellular organisms through the exchange of chemical signals with autocrine, paracrine or endocrine action.
32. Signal transduction mechanisms within eukaryotic cells and the central role played in these processes by protein kinases and protein phosphatases, G-proteins, adapter proteins and scaffolds, second messengers.
33. Eukaryotic cell division cycle and metabolic and cytological events that characterize its phases.
34. Cell cycle progression control (cell growth and proliferation control) as a result of the interaction among extracellular signals, intracellular mechanisms and systems of detection of, and response to, errors (checkpoints).
35. The mutations and epigenetic alterations affecting the genes for the different positive (proto-oncogenic) or negative (tumor suppressor) controllers of the cell cycle and proliferation and their implication in tumorigenesis
36. The cell differentiation as a differential expression of a unique gene set common to all cells of the same organism.
37. The virus: classification based on the type of nucleic acid and the type of cell infected; the viruses as obligate genetic parasites; the mechanisms by which oncogenic viruses can alter the mechanisms of regulation of cell proliferation.
38. The prions and how they are thought to be the cause of transmissible neurological diseases.
39. The principles and technologies of genetic engineering (restriction enzymes, vectors, Southern blotting, PCR) as a means of isolating and studying genes.
40. The techniques used for the production of recombinant proteins in bacterial, animal and plant cells (cDNA, expression vectors, introduction methods in cells).
41. Examples of medical-pharmaceutical application of genetic engineering and biological basis of gene therapy.
Prerequisites for admission
None
Teaching methods
Lectures with audiovisual support (Powerpoint slide shows with multimedia elements).
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)
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
TESTI CONSIGLIATI (SUGGESTED TEXTBOOKS)
G. KARP
Biologia Cellulare e Molecolare - 5a Edizione italiana, Edises 2015
OPPURE (OR)
B. ALBERTS, D. BRAY, K. HOPKIN et al.,
L'essenziale di Biologia Molecolare della cellula - 4a Edizione italiana, Zanichelli 2015
TESTI DI APPROFONDIMENTO (FURTHER READING)
B. ALBERTS, A. JOHNOSON, J. LEWIS et al.,
Molecular Biology of the Cell - 6th Edition, Garland Science 2014
H. LODISH, A. BERCK, C.A. KAISER et al.,
Molecular Cell Biology - 8th Edition, MacMillan 2016
SITI INTERNET (WWW SITES)
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books
http://www.nature.com/scitable
http://www.dnaftb.org/dnaftb
G. KARP
Biologia Cellulare e Molecolare - 5a Edizione italiana, Edises 2015
OPPURE (OR)
B. ALBERTS, D. BRAY, K. HOPKIN et al.,
L'essenziale di Biologia Molecolare della cellula - 4a Edizione italiana, Zanichelli 2015
TESTI DI APPROFONDIMENTO (FURTHER READING)
B. ALBERTS, A. JOHNOSON, J. LEWIS et al.,
Molecular Biology of the Cell - 6th Edition, Garland Science 2014
H. LODISH, A. BERCK, C.A. KAISER et al.,
Molecular Cell Biology - 8th Edition, MacMillan 2016
SITI INTERNET (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 to access to 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 the 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 by the winter session, 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.
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 the 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 by the winter session, 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.
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 5
Informal teaching: 16 hours
Lessons: 48 hours
Lessons: 48 hours
Professors:
Gallina Andrea, Gervasini Cristina Costanza Giovanna, Massa Valentina, Sirchia Silvia Maria
Shifts:
Professor:
Gallina Andrea
Classe unita
Professor:
Gallina AndreaGruppo 1 e 2
Professor:
Gallina AndreaGruppo 3 e 4
Professor:
Massa ValentinaGruppo 5 e 6
Professor:
Sirchia Silvia MariaGruppo 7 e 8
Professor:
Gervasini Cristina Costanza Giovanna