15950 - Biology and Genetics

Course contents

Modern Biology introduction. Introduction to Genetics. Branches of Genetics and relations with the Medicine.
The cellular and molecular biology.
Properties of living organisms; relationship between organisms and their environment.
The Biology Science evolution from cellular theory and microscopy to System Biology.
Genome, transcriptome, proteome, metabolome: new topics in medical science.
Genomics and post-genomics methods of the translational Medicine.
The prokarotic and the eukariotic cells and their properties. The viruses.

The cell theory. Shape, size and structure of eukaryotic cells. Theories on the origin of life. Genes and genomes evolution. The origin of cellular organels and pluricellularity.

Criteria of classification of the organisms.

The genome information structure and the gene expression controls

The nucleus: DNA, chromatin, chromosomes. The ipothesis of chromosomal territories. New informative codes: histone code and nucleosome code. Epigenetic: a new frontier in the cellular information knowledge.

Mechanisms of gene expression regulation. Levels of control: transcriptional, post-transcriptional, translational and post-translational events.

The non coding genes: ncRNAs. Function in silencing of human genes.

Reproduction and Cell differentiation
Human reproduction and fertilization. The two main strategies: sexual and asexual reproduction.

Differentiation and gene expression during the early organisms development.
Cells interactions and communication. Cell-cell interactions (induction and lateral inhibition) and cytosolic determinants.

Cell division and cell death
The cell cycle: phases and mechanisms of control.
Cycline dependent kinase and their function.
The brakes of cell cycle: p53.
The induction of cell division: growth factors. EGF and Wnt signalling.
Apoptosis: role in the organisms's omeostasis.
Different pathways and functions between autophagy, necrosis and apoptosis.

Cancer biology
Aberrations on cellular functions and pathology. Cancer stem cell. Tumor heterogeneity and cancer cell plasticity.
Cancer genetics. Oncogenes, oncosoppressors and caretaker genes.
New molecular targets in therapy: the translational medicine.

Gene and genome
Molecular structure of DNA and genetic information.
The gene: concept, structure and function.
Genome. Organization and variability of the human genome. Number, structure and function of human genes. NcRNA genes.
Families of DNA sequences. Similarity and homology. Gene families. Paralogy and orthology. Pseudogenes.
Families of repeated sequences not gene: tandem repeats (satellites, minisatellites and microsatellites); repetitive DNA "dispersed" (LINE, SINE, SVA, LTR and DNA transposons).

Inheritance laws
Human karyotype. Analysis method of the human karyotype. Number, shape and banding pattern of human chromosomes.
Significance of Mendel's experiments.
Dominance, recessivity, homozygosis and heterozygosis. Familiar, congenital, genetic, hereditary character.
Autosomal dominant inheritance (eg, achondroplasia, essential thrombocythemia).
Autosomal recessive inheritance (eg red hair; albinism).
Codominance. Inheritance of the ABO system. H substance and Bombay phenotype.
Inheritance of the Rh system. Maternal-fetal incompatibility for the Rh blood group.
Genetic sex determination. Structure, function and molecular evolution of the X and Y chromosomes.
Sex-linked inheritance (eg, hemophilia). X chromosome inactivation.
Genetic association and crossing-over. The genetic association as an exception to the second law of Mendel.
Mitochondrial inheritance. Structure, genes, function and mitochondrial DNA mutation. Applications in the biomedical sciences.
Epigenetics. Genomic imprinting. Transmission of genes subjected to imprinting.

Genetic variability
Mutation. Polymorphism. Classification: cause, cell type, biological effect, extension. Mechanisms of gene mutations.
Effects of gene mutations (substitutions, deletions, insertions) in the gene product depending on the localization in the gene.
Chromosomal mutations of structure: mechanisms and effects. Intra-chromosomal abnormalities (deletions, inversions) and their effects.
Inter-chromosomal abnormalities: reciprocal translocations, autosomal and X-Robertsonian translocations. Effects.
Chromosomal mutations of number. Poliplodia and aneuploidy: mechanisms and effects. Trisomy 21.

Multifactorial inheritance
Interaction between genes, epistasis, penetrance and expressivity. Multifactorial inheritance. Methods for the study of complex traits. The twins.
Theory of polygenic multifactorial quantitative (eg, height, blood pressure) and discontinuous (eg, cleft lip and palate) traits.

Population Genetics
Concepts of species and Mendelian population. Gene pool. The Hardy-Weinberg equilibrium and its applications in Medicine.
Forces modifying the Hardy-Weinberg equilibrium: mutation, migration, genetic drift, selection and assortative mating.

Readings/Bibliography

The book should be of University level and it should take only after the lessons are going to begin. Some suggestions:

- De Leo G, Ginelli E, Fasano S. Biologia e genetica. Edises IV edizione/2020.

- Ginelli E, Malcovati M et al. Molecole, Cellule e Organismi. EdiSES, 2016.

The teacher will suggest some other kind of readings like short essays.

Teaching methods

Frontal lessons, video and discussion of some topics and scientific papers.

Assessment methods

The student must face an oral examination about Biology and Genetics.

The topics of the exam will be the master argument treated during the lessons and specified in class at the end of the course.

The degree will be based on notions and the ability in integrating the contents.

Teaching tools

Books, reviews, full papers, video and digital platform for teacher's original schemes and notes (IOL).

Office hours

See the website of Flavia Frabetti

See the website of Silvia Canaider

See the website of Federica Facchin

See the website of Maria Chiara Pelleri

See the website of Lucia Brodosi

See the website of Lorenza Vitale