BIOLOGY AND GENETICS
OVERVIEW
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.
AIMS AND CONTENT
LEARNING OUTCOMES
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.
AIMS AND LEARNING OUTCOMES
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
Teaching methods
Module Biology:
Lectures and exercises
Module Genetis:
Lectures and exercises
SYLLABUS/CONTENT
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
RECOMMENDED READING/BIBLIOGRAPHY
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
TEACHERS AND EXAM BOARD
Ricevimento: Scheduling an appointment (aldo.pagano@unige.it, Tel: 010-5558213)
Ricevimento: 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.
Ricevimento: make an appointment by e-mail paola.ghiorzo@unige.it, or telephone 0103538949-0105557255. Address: DiMI; Viale Benedetto XV, 6. Secondo floor , room 206
Exam Board
LORENZA PASTORINO (President)
ALDO PAGANO (President)
PAOLO GIANNONI (President)
PAOLA GHIORZO (President)
LESSONS
Teaching methods
Module Biology:
Lectures and exercises
Module Genetis:
Lectures and exercises
LESSONS START
October 1, 2017
EXAMS
Exam description
Module “Biology”: Oral examination.
Module “Genetics” : Written test solving 3 or 4 genetic problems and 4 open questions, all to be answered in 75 minutes) for the Genetics section. The examination for the main course consists of a single written exam for the 2 sub-sections. The total amount of time allowed for the examination is 135 minutes.
The chance to carry out a supplementary oral examination is available both to students whose final average mark is 17/30 and to those who wish to increase the mark (at least 27/30) they obtained in the written examination.
Assessment methods
Module “Biology”:
Oral examination. It is always led by the owner and by another teacher role with many years of experience (only in exceptional cases, the second component can be a fellow with at least 5 years of postgraduate research experience) and has a duration of at least 30 minutes (typically 45 minutes). With these modes, given the long experience of examinations in the discipline, the commission is able to verify with high accuracy to achieve the educational objectives of teaching. When these are not met, the student is invited to deepen the study and to use further explanation by the lecturer.
Module “Genetics”:
Students are assessed by a final exam alone which aims to ensure that they have actually reached the required level of knowledge. In order to pass the examination and to reach a mark of at least 18/30, the students must prove their knowledge on : -general mechanisms of inheritance, with particular attention to human heredity - fundamentals of molecular genetics mechanisms that underlie inheritance models . - basic features of the process and the Molecular Basis of the Mutation
FURTHER INFORMATION
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