- Knowledge of the structure and organization of the genome of higher eukaryotes. - Knowledge of the mechanisms for the epigenetic control of gene expression. - Knowledge of the concepts and methods for the dissection of the eukaryotic chromosome in its functional elements. - Knowledge of the strategies for the construction of eukaryotic artificial chromosomes and their applications.
Course Prerequisites
Knowledge of the basics of Genetics and Molecular Biology.
Teaching Methods
Lectures
For the categories of students who have the right to benefit from "inclusive teaching methods", the teachers will arrange ad personam meetings, in person and/or remotely, agreeing an exam program with the student.
Assessment Methods
The exam is oral and consists of the discussion of a scientific paper on one of the topics covered during the course, followed by conventional query on the entire program.
Texts
Reference books: - A.J.F. Griffiths et al. – ZANICHELLI – Genetica. - P.J. Russell – Pearson - Genetica. Un approccio molecolare. - D.P. Snustad e M.J. Simmons - EdiSES - Principi di Genetica. - Tom Strachan Andrew Read - ZANICHELLI - Genetica molecolare umana.
Students also will be delivered scientific reviews on specific topics and all the slides of the course.
Contents
Supercoiling of the DNA in the eukaryotic chromosome. The functional state of the chromatin: loop structure. Chromosome banding and compositional mapping (isochores). Gene mapping in man: pedigree analysis, somatic cell hybridisation, radiation hybrids, in situ hybridisation (FISH). Multi-colour FISH. Comparative genomic hybridisation (CGH). Chromosome isolation and construction of chromosome specific DNA libraries. Genome projects and the post-genomic era. Organization of the eukaryotic genome: single copy sequences, repetitive sequences, non-coding RNA. Different classes of non-coding RNA and their function. 3D organization of the interphase nucleus: 3C approaches. Epigenetic regulation of gene function. Gene dosage compensation and sex determination. Genomic imprinting. Dynamic mutation and dynamic mutation syndromes. Genome plasticity. DNA sequences mediating genome plasticity. Genomic disorders. Genome plasticity and genome evolution: conserved synteny blocks. Genome instability in cancer. Dissection of the eukaryotic chromosome. Centromere, telomeres and replication origins. Reconstruction of eukaryotic chromosomes. Construction of mammalian artificial chromosomes: bottom-up vs top-down approach. Model artificial chromosomes. Gene therapy. Cancer gene therapy. Stem cells and cloning of organisms. Nuclear reprogramming: induced pluripotent stem cells (IPS).
