| CODE | 80754 |
|---|---|
| ACADEMIC YEAR | 2022/2023 |
| CREDITS |
|
| SCIENTIFIC DISCIPLINARY SECTOR | BIO/13 |
| TEACHING LOCATION |
|
| PREREQUISITES |
Prerequisites (for future units)
This unit is a prerequisite for:
|
| MODULES | This unit is composed by: |
| TEACHING MATERIALS | AULAWEB |
This course provides a basic outline of the principles of modern biology and genetics in the context of evolution. It focuses on the main molecular and cellular mechanisms that are involved in life sciences emphasising the mechanisms at the base of the main biological processes such as the molecular basis of heredity. The course also provides students with the skills to solve problems related to their knowledge of biology and genetics.
Module “Biology” (6 CFU)
This module will provide the basic knowledge about biology that is required to understand biotechnology concepts and techniques for productive purposes. The aim of the course is to place the main biological processes within a setting that allows biotechnologists to take advantage of their potential and translate knowledge into biotech products.
Module “Genetics” (5 CFU)
This module will provide a basic outline of the principles of classical genetics and of their main underlying molecular and cellular mechanisms. The course will cover both the function and the organization of genetic material, mainly in eukaryotes. Methods to determine the relative positions of genes in the genome will be explained, and different patterns of inheritance will be described. The main areas covered will be: transmission genetics, gene and genome structure, and stability and variability mechanisms. The course will also introduce students to simple genetics problems with specific interactive lessons.
Biology:
Upon completion of the course, students should be able to recognize and describe genetic phenomena and demonstrate knowledge of:
-How to study life.
-Cellular and subcellular structures and functions
-Structure and function of genetic material
-gene expression and its regulation.
Genetic
Upon completion of the course, students should be able to recognize and describe genetic phenomena and demonstrate knowledge of:
-General mechanisms of inheritance, with particular attention to human heredity
-Fundamentals of molecular genetics mechanisms that underlie Mendelian inheritance patterns.
-Mutations: basic features of the process, molecular mechanisms and relative consequences on the potential pathogenicity
-Applications of modern analytical techniques of molecular genetics and genomics to biotechnology and biomedicine
Module Biology:
Lectures and exercises
Module Genetis:
Lectures and exercises
Module Biology:
Modulo “Biologia” (6 CFU)
1: How to study life
2: Biotechnology
3: Scientific methods and literature
4: The origin of life
5: Cell theory 1
6: Seminar
7: Cell Membrane
8: Chromosomes
9: Cell cycle and cell division
10: From mendelian to modern genetics
11: Origin and development of Molecular Biology
12: From DNA to Proteins, from genotype to phenotype
13: Eukaryotic genome and its expression
14: Recombinant DNA and Biotechnology
15 Genome sequencing, molecular biology and the origin of molecular medicine
16: Developmental biology
17: The history of life on earth
18: Evolutionary mechanisms
19: The origin of species and the evolution of genomes
20: Procaryotes
21: Origin and diversification of Eukaryotes
22: Phylogenesis
23: The origin of animals and their body plan
24: Seminar
Module Genetic:
1) Genes and genomes
Organization of gene structure and function
comparative description of Genomes (size and organization)
Structure and function of chromatin
The nucleosome as a fundamental unit of DNA packaging, and its role in gene expression regulation
2)Meiosis: Inheritance and variation
-Comparative analysis of meiosis and mitosis kinetics
-Mechanisms contributing to genetic variation: (recombination,independent assortment, random fertilization)
3)Basic Principles of inheritance:
Mendel's study of heredity. Applications of Mendel's principles to General genetics (eukaryotes)
Testing Hypotheses about Patterns of Inheritance (Punnett Square, branch diagram, probability methods )
4) Extensions to Mendel’s Laws for single gene inheritance
-Allelic variation and gene function:
-Incomplete dominance. Codominance,
-Multiple alleles, lethal alleles
-Notions on allelic variation effects on viability: phenotypic, sterility-causing, lethal
-Pleiotropy : A single gene responsible for a variety of traits.
5) Extensions. to Mendel’s Laws for two or more genes determining one trait-
-Different models from 2-gene interaction :
novel phenotypes, complementary gene action, epistasis
-Gene-environment interaction, environmental effects on phenotype
-Penetrance and expressivity
6) Problem solving in the following subjects :
-Applications of Mendel's Principles to eukaryotics .
-Extensions of Mendelism: incomplete dominance. Codominance, Multiple alleles, lethal alleles ,
-Different models of Gene-gene interaction
-Description of some examples of pleiotropic traits
7) Applications of Mendel's principles to Human genetics
-Testing inheritance-hypothesis through Mendelian pedigree pattern analysis
8)Problem solving in the following subjects
-Applications of Mendel's principles to Human genetics
-Pedigrees analysis.
-Transmission probability of monogenic traits
-9)Sex-linked traits:
Sex-chromosomes and the chromosomal theory of inheritance.
-X-linked recessive and dominant inheritance and Y-linked inheritance.
-Molecular mechanisms of sex determination in humans,drosophila and other eukaryotes.
10) Dosage Compensation of X-Linked Genes:
-Molecular mechanisms of X-chromosome dosage compensation in mammals, Drosophila and other eukaryotes
11)Linked Genes: Recombination and gene mapping in eukaryotes.
-Linked and unlinked genes, crossing-over and recombination.
-Frequency of recombination and genetic distance in genetic mapping.
-Correlations among genetic, cytogenetic and physical mapping.
-Notions of mechanisms of genetic exchange and mapping in humans and bacteria.
12) Problem solving in the following subjects :
-Sex-linked traits in drosophila and humans –
-Linked Genes: recombination and gene mapping in eukaryotes and notions of linkage analysis in human genetics Simple examples of pedigrees
13) Polygenic inheritance and
environmental effects
A Mendelian explanation of continuous variation in polygenic trait inheritance
-Additive model of polygenic inheritance (continuous characters)
-Polygenic threshold model for non mendelian discontinuous characters.
-Simple examples of both models
14) -Mutation: Source of the Genetic Variability Required for Evolution
-Basic Features of the Process.
-Somatic and germline mutations.
-Spontaneous and induced mutations
-Physical,chemical agents as mutagens .
-Screening of chemicals for mutagenicity:The Ames test.
-Notions of DNA Repair mechanisms
15)Mutation: molecular basis and phenotypic effects
-Mutations with dangerous phenotypic effects
-Dominant and recessive lethal mutations
-Conditional mutations as powerful tools for studying gene function
-Intra and intergenic suppressor mutations
-More in-depth studies on mutational mechanisms which result in the exchange of repeated sequences, unstable expansion of triplet repeats,transposable genetic elements
16) Transposable Genetic Elements(TGE)
-Transposable elements in bacteria
-Cut-and-paste transposons in Eukaryotes
Retroviruses and Retrotransposons
-Transposable Elements in Humans
-The Genetic and Evolutionary Significance of Transposable Elements
17)
Mitochondrial Inheritance
-Molecular genetics mechanisms that contribute to uniparental (maternal)inheritance
-Mitochondrial DNA mutations and human health
Chromatin Structure and Epigenetic effects
-Genomic imprinting , DNA methylation ,chromatin remodeling
-Inheritance pattern of imprinted genes
18)The genetic basis of cancer
Cancer: a genetic disease
Role of Oncogenes, Tumor Suppressor Genes on failure of control over cell division and on cancer onset
Genetic Pathways to Cancer
Inherited cancer syndromes : defects in DNA replication, repair and recombination mechanisms.
19)Molecular Analysis of Genetic Information
-Use of Recombinant DNA Technology to Identify Human Genes and Diagnose Human Diseases
-Molecular Diagnosis of Human Diseases
-DNA Profiling
-Problem solving in applications of molecular genetics to biomedicine
20)Seminar lesson in cooperation with the students
More in-depth explanations on course-related topics requested by the students
Module “Biology”: “Principi di Biologia” Sadawa, Heller, Orians, Purves, Hillis. (Ed. Zanichelli).
Module “Genetics”: Snustad Simmons Principi di genetica Ed.EdiseS; Russel P. Genetica Un approccio Molecolare Ed. Pearson
Office hours: Scheduling an appointment (aldo.pagano@unige.it, Tel: 010-5558213)
Office hours: Prof. Paolo Giannoni: Office hours for students are normally set on Thursdays from 09:00 to 11:00. The office address is: Biology Section, Dept. Experimental Medicine; entrance: Via Pastore 3 or C.so Europa 30, second floor. E-mail appointments are strongly encouraged. The teacher's e-mail address is the following: paolo.giannoni@unige.it. Alternatively the teacher can be reached at the following phone number: 01035338201. If necessary appointments may also take place on-line, depending on previous agreements between the students and the teacher.
Office hours: Make an appointment by e-mail paola.ghiorzo@unige.it, or telephone 0105557255. Address: DiMI; Viale Benedetto XV, 6. Secondo floor , room 206
PAOLA GHIORZO (President)
PAOLO GIANNONI (President)
ALDO PAGANO (President)
LORENZA PASTORINO (President)
October 1, 2017
Biology Module: The exam of the single module is oral.
Genetics Module: The exam of the single module consists of a written test (n. 3/4 genetic problems and 4 open questions to be solved in 75 minutes)
The exam of the integrated course is a single written exam for the 2 modules. The duration of the overall exam is 135 minutes. Possibility of an additional oral test both for those who report a mark of 17/30 on the modules and for those who want to try to improve the mark (higher than or equal to 27) obtained in the written test.
For both courses of the two modules, the written exams focus on all the topics covered in class and are therefore aimed at verifying students' learning of the entire program. The types of questions presented in the exam text are varied and include references to specific terminology for each course, provide for comparisons and logical connections, priority analysis, consequential and importance assessments. Sometimes they contain images aimed at focusing the examiner's attention on a particular aspect of the subject on which the question is concerned. With this type of assessment, therefore, an attempt is made to examine more aspects of the cognitive abilities of students in relation to the subjects in question. To pass the exam, the student must report a grade of not less than 18/30 (eighteen / thirty) proving that he knows:
(for the Biology Module): - The scientific method of investigation of the living, cell theory, the origins of life and the structure of the main components of cells - The main biological processes such as cell division, DNA structure and its role in heredity, describing the experimental approaches used in major scientific discoveries. - The concepts of genotype and phenotype by deepening the peculiar aspects of the genomes and the fundamental stages of the development of molecular biology - The principles of living beings, both prokaryotes and eukaryotes, and the evolutionary mechanisms that have allowed their speciation and differentiation;
(for the Genetics Module): - The general bases of heredity with particular attention to those of man - The principles of molecular genetics that are the basis of Mendelian characters and diseases - The mechanisms underlying and the consequences of mutations genic. -The main applications in the biomedical and biotechnological fields of modern molecular genetics and genomics techniques.
In any additive oral tests: -These are always conducted by the owner and by another tenured professor with many years of experience (only in exceptional cases the second component can be a post-graduate research fellow with at least 5 years of experience) and has a duration of at least 30 minutes (typically 45 minutes). With these modalities, given the many years of exams experience in the discipline, the commission is able to verify with high accuracy the achievement of the educational objectives of the teaching. When these are not reached, the student is invited to deepen the study and to make use of further explanations by the lecturer.
All the topics covered in class can be found in the ”aula web” slides.
Any other, more in-depth material is mentioned at the end of the lesson and can be found in the “aula web” slides.
https://www.biotecnologie.aulaweb.unige.it