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 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 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 the 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:
- 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
- histone variants
- 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

- Intracellular compartment morphological and functional organization and related diseases
- Protein sorting
-The cell cycle
-Apoptosi
- Principles of cellular communication
-Practical activity

The role of statistics in biomedic fields
Elements of probability theory:
-uncertainity and random experiments
Sample space and events
-attribution of probability to events
- elementaty properties of probability
- conditional, marginal and joint probability
-random variable
- Bayes theorem
Introduction to diagnostic test:
-sensitivity and specificity
-application of Bayes theorem to diagnostic tests
Distributions of random variables:
-Bernoulli
- binomial
-Poisson
-Gaussian
-chi square
Introduction to hypothesis testing
-null and alternative hypothesis
-test statistics and p-value
- significance level and power of the test
-test on the mean
-chi square test for goodness of fit
-example of application of chi square test in the genetic field