- Knowledge of the structure and organization of the genome of higher eukaryotes. - Knowledge of the mechanisms of epigenetic regulation of gene expression. - Knowledge of the methods to study the human normal and pathological karyotype. - Knowledge of the basic principles of human and molecular cytogenetics.
Course Prerequisites
Basic knowledge 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 query on the entire program. One question focuses on a topic of your choice, then two other questions are asked on topics covered during the course.
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. - Bruce Alberts Alexander Johnson Julian Lewis David Morgan Martin Raff Keith Roberts Peter Walter - ZANICHELLI - Biologia molecolare della cellula.
Students also will be delivered scientific reviews on specific topics and all the slides of the course.
Contents
Structure and organisation of the eukaryotic genome. The eukaryotic gene. Evolution of the concept of gene. Genome projects, ENCODE project, post-genomic era. The C value and its paradox. Single copy and repeated DNA sequences. Functions of repeated DNA. Gene families, moderately repeated DNA, low copy repeats (LCR sequences and CNV), highly repeated DNA sequences, satellite DNA, interspersed repeated DNA sequences. Transposable elements, LCR sequences and genome evolution. Non coding RNA. The nucleosome. Chromatin in its functional state. Genetic maps. Physical maps. Construction of physical maps in man: pedigree analysis, somatic cell hybridisation, radiation hybrids, in situ hybridisation. Regulation of gene expression in eukaryotes: epigenetic regulation of gene expression. Polytenic chromosomes and puffing. Lamp-brush chromosomes. Gene dosage compensation and sex determination. Genomic and chromosomic mutations. Pathologic and normal human karyotype. Chromosome banding. Genomic and chromosomic mutations in human pathology. Genetics and cytogenetics of cancer.
