Biology and Genetics

· DNA
DNA as the repository of the genetic information:
three-dimensional structure of DNA (secondary structure)
shape and size of DNA molecules (tertiary structure)
chromosome and chromatin structure (quaternary structure)
DNA replication
Biological importance of DNA synthesis in the transmission of the genetic information from one generation to another (replication) and in the "repair" of "damages" to DNA molecules.
Origins of replication and replicative forks
Problems posed at the molecular level by the characteristics of DNA and DNA polymerases
Molecular mechanism of replication
DNA repair
Mechanisms of occurrence of mutations in DNA:
- types of possible DNA damage
Mechanisms of molecular repair:
- repair of damage on single strand
- repair of double strand breaks
· RNA
Structure and differences with DNA
Molecular heterogeneity of RNA: coding and non-coding RNA
Transcription
Mechanisms of transcription in prokaryotes and eukaryotes:
- promoters and choice of the strand to be transcribed
- the RNA polymerases
- the transcription cycle: initiation, elongation, termination
RNA processing
Structure of prokaryotic genes
Structure of eukaryotic genes: the discontinuous gene.
RNA maturation pathways:
- terminal modifications: capping and polyadenylation
- splicing
- cleavage
- chemical modifications and editing
· PROTEIN
Translation
Definition and characteristics of the genetic code
Decoding the genetic code:
- role of tRNAs
- wobbling
- aminoacyl-tRNA synthetase and supercode
Ribosomes as the site of protein synthesis
Molecular mechanism of protein synthesis.
Post-translational modifications (PTM) of proteins (outline)
General features
Proteolytic cut
Main PTMs involving the addition of functional groups:
- phosphorylation
- acylation
- alkylation
- glycosylation
PTM involving the addition of other proteins or peptides:
- ubiquitylation
· REGULATION OF GENE EXPRESSION
General principles of gene expression regulation
The different steps in which the regulation of gene expression can take place: main differences between eukaryotes and prokaryotes
Transcriptional regulation:
- Regulation of transcription initiation:
- general and specific transcription factors
- enhancer, silencer and insulator
- signal integration and combinatorial control
Epigenetics:
Today's definition of epigenetics
Genetics vs Epigenetics
Epigenome and epigenetic mechanisms:
- DNA methylation
- post-translational modifications of the histone tails
- chromatin remodeling complexes
- ncRNA
Gene "silencing"
- X-inactivation
Post-transcriptional regulation:
Gene regulation at the level of mRNA maturation (alternative splicing), transport and localization, stability
Regulation of the translation start phase:
- transcript-specific
- global
- IRES (Internal Ribosome Entry Site)
Regulatory RNAs:
- RNA Interference (RNAi) and microRNAs
- long non-coding RNAs: biological functions, mechanisms of action and regulation
Practical activity: reading, interpretation and critical presentation of a scientific article

Genetic Module
-Gregor Mendel and the concept of digital inheritance
- Extensions to Mendelian heredity: Multiple alleles, sex-related characters, epistasis, incomplete dominance, codominance, lethal genes, conditional alleles, alleles with dose effect, incomplete penetrance, variable expressivity, characters influenced by sex, genes associated with the same chromosome.
- Sex-related characters
- Biochemical genetics
- Genetic and linkage maps (Morgan, Sturtevant). Crossing-over and recombination. Relationship between distance between genes and probability of crossing-over. Interference.
- Blood groups in humans.
- Family trees. Autosomal dominant inheritance, autosomal recessive, dominant X-linked, linked to recessive X
- Genetic of populations.
- The human genome, organization and evolution.
- Genetic modifications of cells and organisms. Genetic engineering: bacteria, plasmids, restriction enzymes
- Genes and molecules of the immune system.
- Genetic mapping and physical mapping,
- The genetic basis of tumors
- Genetic of twins.
-Cromosomes and cell reproduction
- Chromosomal variability
- Molecular Genetic Analysis and Biotechnology:
- Practical activity: reading, interpretation and critical presentation of a scientific article

Intracellular compartment morphological and functional organization and related diseases
- Protein sorting
-The cell cycle
-Apoptosi
- Principles of cellular communication
-Practical activity: reading, interpretation and critical presentation of a scientific article

The role of statistics in the biomedical field.
Data collection and data management. Variables and data. Methodological approach to statistical analysis.
Descriptive statistics: construction and reading of frequency tables; construction and reading of the most commonly used graphs in medical statistics; calculation and interpretation of measures of central tendency and measures of dispersion (mean, median, centile, range, standard deviation).
Probability. Definition, axioms, calculation rules (sum, product, independence, conditional probabilities). The Bayes theorem.
Probability models: the binomial model and the hypergeometric model. The Gaussian model.
Some examples in the biomedical field: risks; diagnostic accuracy (sensitivity and specificity; likelihood ratios; predictive values).
Sampling, sample estimates, sampling distributions and statistical inference.
Interval estimation of parameters. The confidence intervals.
Hypothesis testing: inference and statistical significance.
Some applications in the genetic field. The chi-square test.