Biologia molecolare

The course is organized into two Teaching Units and is structured to emphasize the integration of genome organization and dynamics, gene expression regulation, and the principles of genetic inheritance, with particular attention to pathophysiological implications and applications in contemporary molecular medicine.

Teaching Unit in Molecular Biology (3cfu)

I. Genome Dynamics and Stability
· Three-dimensional structure of DNA in vivo: B-form DNA and alternative conformations
· Chromatin organization and functional genome architecture
· Chromatin compartmentalization and the role of gene silencing in genome stability
· DNA replication in eukaryotes and temporal control of replicative activity
· DNA damage, mutability, and genomic instability
· Molecular mechanisms of DNA repair
· Coordination between replication, chromatin organization, and DNA repair systems
· Alterations of genome stability and their pathophysiological implications
· DNA analysis techniques applied to the study of mutations (PCR, sequencing, NGS)

II. Gene Expression and Multilevel Regulation
· Structure and function of coding and non-coding RNAs
· Eukaryotic transcription: mechanisms of synthesis and regulation of transcriptional activity
· RNA polymerases I, II, and III and transcript specificity
· Co-transcriptional RNA processing (capping, splicing, polyadenylation; rRNA and tRNA processing)
· Post-transcriptional regulation and the role of regulatory RNAs (miRNA, RNAi, lncRNA)
· Translation: molecular mechanisms and regulation of translational activity
· Post-translational modifications and regulation of protein stability
· Integration among regulatory levels and fine modulation of gene expression
· Alterations of gene expression mechanisms in human diseases
· Techniques for the study of gene expression and the proteome (RT-qPCR, RNA-seq, proteomic analyses)

III. Epigenetics and Integration of Molecular Processes
· Modern definition of epigenetics
· Epigenome: DNA methylation, histone modifications, and chromatin remodeling
· Epitranscriptome and epiproteome: regulatory modifications of RNA and proteins
· Epigenetic plasticity, cellular memory, and reversibility of regulatory processes
· Integration between epigenetic state, transcriptional activity, RNA processing, and translational control
· Role of epigenetics in gene silencing and maintenance of genome stability
· Pathophysiological implications of epigenetic alterations

IV. Perspectives in Contemporary Molecular Medicine
· Innovative molecular approaches: RNA-based therapeutics (ASO, siRNA) and genome editing (CRISPR/Cas)
· Applications of omics technologies in diagnostics and precision medicine

Teaching Unit in Genetics (1cfu)
· Interpretation of pedigrees for different types of inheritance in humans, including normal and pathological Mendelian traits.
· Calculation of reproductive risk for transmitting a pathological trait.
· Population genetics: calculation of allele and genotype frequencies and application of the Hardy-Weinberg law to predict allele and genotype frequencies associated with normal and pathological conditions.
· Genetic and linkage maps (Morgan, Sturtevant). Crossing-over and recombination. Relationship between distance between genes and probability of crossing-over. Interference.