Unit GENERAL BIOLOGY AND GENETICS
- Course
- Medicine and surgery
- Study-unit Code
- GP001255
- Location
- PERUGIA
- Curriculum
- In all curricula
- Teacher
- Vincenzo Nicola Talesa
- CFU
- 7
- Course Regulation
- Coorte 2020
- Offered
- 2020/21
- Type of study-unit
- Obbligatorio (Required)
- Type of learning activities
- Attività formativa integrata
GENERAL BIOLOGY AND GENETICS - MOD. 1
| Code | A001679 |
|---|---|
| Location | PERUGIA |
| CFU | 6 |
| Teacher | Vincenzo Nicola Talesa |
| Teachers |
|
| Hours |
|
| Learning activities | Base |
| Area | Discipline generali per la formazione del medico |
| Academic discipline | BIO/13 |
| Type of study-unit | Obbligatorio (Required) |
| Language of instruction | Italian |
| Contents | The basis of biological organization. Chemical basis and molecular organization of life. Structure and function of the plasma membrane. Cell wall and extracellular matrix: structure, function and interaction of cells with the extracellular environment and of the cells between them. Cellular communication and signal transduction. Cytoplasmic membrane systems: structure, function and membrane traffic. Cellular respiration and mitochondria. Cytoskeleton and cell motility. The cancer. Organization of the eukaryotic genome. Gene expression and its regulation. DNA replication and repair. Gene mutations. Cell cycle and its regulation. Genetics elements. Elements of molecular biology methodologies. |
| Reference texts | 1) Giacomo DE LEO, Silvia FASANO, Enrico GINELLI - BIOLOGIA E GENETICA, EdiSES 2) GERALD KARP - BIOLOGIA CELLULARE E MOLECOLARE CONCETTI ED ESPERIMENTI, EdiSES |
| Educational objectives | The aim of the course is the integrated study of the cell and living organisms, with particular regard to the basic mechanisms involved in the following processes: expression, duplication and transmission of genetic information, cell proliferation. Knowledge of the biotechnological applications concerning the above processes, of the most advanced biological technologies, including recombinant technologies and the use of transgenic animals, is essential for achieving the objective. |
| Prerequisites | High school level knowledge of: Biology, Chemistry and Physics |
| Teaching methods | Frontal lessons |
| Learning verification modality | Written exam with multiple choice questions and oral exam For information on support services for students with disabilities and / or DSA visit the page http://www.unipg.it/disabilita-e-dsa |
| Extended program | Introduction to the study of cellular and molecular biology. The biological organization. Characteristics of living beings. The development of cell theory. Types of prokaryotic and eukaryotic cells. The size of the cells and their components. Virus. Prions. The chemical basis of life and the molecular organization of life. Chemical bonds. Polar and non-polar molecules. The properties of water. Biological macromolecules: Proteins: composition, structure, protein domains, active sites. Regulation of the biological activity of proteins. Biological importance of the correct wrapping of proteins. Enzymes and metabolism. Structure and function of Carbohydrates, Lipids, Nucleic Acids. The plasma membrane: structure and function. Structure and function of integral proteins, peripheral and anchored to lipids. Lipids and membrane fluidity, membrane asymmetry. Membrane carbohydrates. Importance of glycocalyx. Dynamic nature of the membrane: mobility of lipids and proteins. Movement of substances through the membrane: simple diffusion, facilitated diffusion, active transport. Membrane potentials. Cell wall and extracellular matrix: structure and function. Role of the extarcellular matrix in the interaction between cells and the extracellular environment. Interaction of cells with other cells. Cellular communication: cellular signaling and signal transduction. Biological role of cell communication and characteristics of signaling systems. Types of signals: autocrine, paracrine, endocrine, neuronal, contact. Types of receptors: receptors connected to ion channels, G protein coupled receptors, receptors with enzymatic activity. G protein coupled receptors: structure, G protein families, activation and deactivation cycle. Signal transduction. Effectors coupled to G proteins (Adenylate cyclase, Phospholipase, Ion channels). Glucose mobilization. Second messengers and signal amplification. Receptor desensitization. Enzymatic activity receptors: Tyrosine kinase receptors: signal activation and transduction. The Ras-MAP-kinase pathway. Insulin receptor signaling. Convergence, divergence and cross-dialogue between the different signaling pathways. Role of nitrogen oxide as second messenger. The endomembrane system: The Nucleus: structure and function. The nuclear envelope. The pore complex. The nucleolus. Chromatin and chromosomes. Epigenetics. Rough endoplasmic reticulum. Structure and function. The ribosomes. Biosynthetic pathway of the cell. The secretory pathway and the cytoplasmic pathway. Protein sorting. Addressing signals and receptors. Modifications of newly synthesized proteins in the lumen of the endoplasmic reticulum. Glycosylation and quality control. Proteasome mediated degradation. Smooth endoplasmic reticulum. Structure and function. Importance of detoxification from xenobiotics. Golgi complex. Structure and function. Glycosylation in the Golgi complex. The movement of materials in the Golgi complex. Vesicular transport. Types of vesicles and types of transport. Addressing of the vesicles to a specific compartment. Lysosomes. Structure and function. Heterophagia and autophagy. Peroxisomes: Structure and function. Endocytic path: Generalized endocytosis. Receptor mediated endocytosis. Internalization of LDL and role in the formation of atheromas. Phagocytosis. Post translational intake of proteins by the nucleus, peroxisomes, mitochondria, chloroplasts. Mitochondria: structure and function. Mitochondrial membranes and the matrix. Cellular respiration. Synthesis of ATP. Cytoskeleton and cell motility: The structure and function of microtubules. Kinesin and dynein. The microtubule organization centers. Dynamism of microtubules. Eyelashes and flagella: structure and function. Intermediate filaments: types and functions. . Microfilaments, actin and myosin. Muscle contractility. Cancer: Characteristics of the neoplastic cell. Proto-oncogenes. Oncogenes. Tumor suppressor. Structural and functional organization of the eukaryotic genome. Complexity (repetitive DNA, concept of gene family, etc.) and stability (gene duplication, pseudogenes, transposable elements and their role in the evolution of the genome) of the eukaryotic genome. Genetic variability within human populations (polymorphisms). Regulatory sequences, DNA / protein interaction. Medical applications of genome analysis. Molecular basis of hereditary information. The chemical nature of the gene (Griffith and Hershey / Chase experiments). Gene expression: from transcription to translation. Transcription and maturation of RNAs in eukaryotes. The anatomy of the prokaryotic and eukaryotic gene. The relationship between genes and proteins. The mechanism of synthesis (transcription) of RNA in prokaryotic and eukaryotic cells. The maturation process of primary transcripts, with particular regard to the modification of messenger RNAs in eukaryotes. Gene expression: from transcription to translation. Coding of gene expression (translation). Genetic code: decipherment and properties. Molecular system of translation. General characteristics and biological implications of translation. Molecular mechanisms underlying the regulation of gene expression in bacteria (general) and in eukaryotes. Transcript level control. Role of transcription factors (trans factors) and DNA sites involved in transcriptional regulation (cis elements). Role of chromatin condensation, degree of DNA methylation and histone H3 acetylation with the expression of genes in eukaryotic cells. Role of small non-coding RNAs and RNA-induced silencing. Potential clinical applications of RNA interference. Molecular mechanisms underlying the regulation of gene expression in eukaryotes. Post-transcriptional, translational and post-translational control. MicroRNA: a newly discovered network for post-transcriptional gene regulation and alternative splicing. Regulation of mRNA and protein stability. DNA replication and repair and their correlations with human pathologies and with cellular aging phenomena. Biological role of DNA replication, possible models, experiment that allowed to verify its veracity (Meselson and Stahl). Molecularly associated problems with semiconservative replication. Telomerase. Mistakes that can occur under physiological conditions during DNA metabolism, and main DNA repair mechanisms in eukaryotic cells. Gene mutations. Mutations by replacement, insertion or deletion of nucleotides, spontaneous and induced mutations. Chemical and physical mutagens. Know the single and double strand DNA damage repair systems. Genomic and chromosomal mutations (general). Cell cycle and its gene control. Apoptosis. Genes involved in the regulation of the cell cycle (tumor suppressors) or in the control of cell proliferation (proto-oncogenes). The role of cyclin-dependent kinases. Cell death mechanisms (necrosis and apoptosis). Phase M: mitosis or meiosis and cytokinesis. Gametogenesis. Haploidy and diploidy concept. Homologous chromosomes. Molecular mechanism of mitosis. Cytokinesis. Characteristics of sexual reproduction. Molecular mechanism of meiosis and its genetic consequences. Meiosis in human male and female gametogenesis. Haploidy and diploidy concept. Homologous chromosomes. Alleles. Mendel's experiments and laws. chromosomal theory of inheritance. Morgan experiments and association between genes. Concepts of dominance, recessivity, incomplete dominance, codominance, pleiotropy, epistasis, penetrance and expressiveness. Genealogical trees, autosomal dominant and recessive traits, sex-related traits (X dominant and recessive, Y). Molecular biology methodologies: generalities and applications. |
GENERAL BIOLOGY AND GENETICS - MOD. 2
| Code | A001680 |
|---|---|
| Location | PERUGIA |
| CFU | 1 |
| Teacher | Cinzia Antognelli |
| Teachers |
|
| Hours |
|
| Learning activities | Base |
| Area | Discipline generali per la formazione del medico |
| Academic discipline | BIO/13 |
| Type of study-unit | Obbligatorio (Required) |
| Language of instruction | Italian |
| Contents | Cell Cycle. Formal genetics. Medical genetics. Blood types genetics. Recombinant DNA technology. |
| Reference texts | Biologia e genetica - G. De Leo, E. Ginelli - S. Fasano Edises |
| Educational objectives | The aim of the course is the integrated study of the cell and living organisms, with emphasis on cell cycle, mutations, general and human genetics, recombinant DNA technology. The ability to learn, relate and integrate one concept to another will be considered fundamental in order to facilitate the understanding of the disciplines provided in the subsequent years of the Degree Course. |
| Prerequisites | Basic elements of cellular and molecular biology |
| Teaching methods | Face-to-face |
| Other information | Site of the teacher Nuova sede dei Dipartimenti di Medicina - Edificio B- 4° piano - P.le L. Severi 1 - Sant'Andrea delle Fratte - Perugia |
| Learning verification modality | Oral examination |
| Extended program | Euploid human karyotype. Cell cycle: interphase and phase M. Sexual reproduction and gametogenesis. Pathological human karyotype (genomic mutations). Gene and chromosomal mutations. Spontaneous and induced mutations. Somatic and germline mutations. DNA repair mechanisms. Cell death mechanisms. Basic elements of formal genetics: allele, haploid and diploid organisms, genotype, phenotype, homozygous and heterozygous organisms, dominance, recessiveness, Mendel's laws and extensions to Mendelian analysis (incomplete dominance, codominance, multiple alleles). Basic concepts of medical genetics: family trees, dominant and recessive autosomal inheritance, sex-linked inheritance (X-linked and Y-linked). Multifactorial and polygenic inheritance. Mitochondrial inheritance. Pleiotropy. Epistasis. Expressivity and penetrance. Blood types genetics. Recombinant DNA technology and its main applications: purification and electrophoresis of nucleic acids, gene cloning (restriction enzymes and vectors), genomic and expression libraries, PCR, Real time PCR. Applications: genetic diagnosis of diseases, diagnosis of pathogenic infections, medico-legal investigations, gene therapy, GMOs. |