Dipartimento di Scienze della Vita e dell'Ambiente - Guida degli insegnamenti (Syllabus)
Basic knowledge of biochemistry, cytology, genetics and molecular biology.
The course consists of a theoretical part with lectures (4.5 ECTS*, 36 hours) based on Power Point presentations and laboratory practicals (1.5 ECTS, 12 hours). Power Point presentation are handed over to students and uploaded on a Moodle platform. Thorough this platform students will be able to book to laboratory practicals. For some topics, the lecturer indicates scientific articles published in international peer-reviewed journals that students can use to deepen some topics while studying for the final exam.
* 1 ECTS= 1 CFU
The course will enable students to gain knowledge on: i) various aspects of cell biology (e.g., cell cycle, cell cycle control, chromatin organization, organization of interphase nucleus) more closely related to chromosome biology; ii) function and structure of chromosomes and their parts (centromere, telomere, neucleolar organizing region); iii) chromosomal nomenclature; structural and numerical chromosome abnormalities, their causes and consequences for human health; iv) evolutionary significance of chromosomal rearrangements and polyploidy; v) epigenetic modifications influencing gene expression of whole portion of them; vi) function and differentiation of sex chromosomes; vii) cell culture methods; viii) classic and molecular cytogenetics methods; ix) cytogenetic diagnosis methods.
Ability to apply the knowledge:
At the end of the course, the student should be able: i) to apply some classical cytogenetic techniques (such as Giemsa staining; AgNOR banding; G-banding) used in cytogenetic investigation; to recognise and classify chromosomes on the basis of their morphology; iii) to make a karyotype from metaphase pictures captured with a digital camera.
Laboratory practicals will help the student to develop the abilities to learn autonomously and to work within a group. In addition, laboratory practicals will help the student to develop practical skills needed to work autonomously and effectively in a cytogenetic laboratory. The scientific articles suggested by the lecturer to deepen some topics will help the student to develop the ability to read and understand international scientific literature: this ability will be used by the student while preparing the final thesis.
Contents of the lectures (4.5 ECTS, 36 hours):
Historical perspective. The cell cycle: mitosis; meiosis; cell cycle regulation. Amount of DNA per haploid nucleus: C-value. Chemical composition and ultrastructure of eukaryotic chromosomes: euchromatin; constitutive and facultative heterochromatin; organization of chromatin and chromatin compaction levels. The eukaryotic chromosome: morphology, chromosome arms, centromeric index and chromosome classification; karyotype and chromosome number; normal human karyotype and conventional nomenclature of human chromosomes; examples of karyotypes in other vertebrates. The chromosomes in interphase: chromosome territories; nuclear matrix. Structure and function of centromere. Structure and function of telomeres. The nucleolar organizing region (NOR). Lampbrush chromosomes. Polytene chromosomes. B chromosomes. Karyology and evolution: chromosome banding; karyotypes, genomes and evolution. Sex chromosomes and sex determination; evolution of sex chromosomes; sex chromosome systems in vertebrates; dosage compensation. Genomic imprinting. Chromosome heteromorphisms. Numerical chromosome abnormalities: aneuploidy, polyploidy and the evolution of plants and animals. Structural chromosome abnormalities. Dynamic mutations. Fragile sites: fragile X syndrome. Cytogenetic mutagenesis. Elements of cancer cytogenetics. Elements of prenatal cytogenetic diagnosis. Cell cultures. Preparation of metaphase chromosomes from cell cultures. Preparation of metaphase chromosomes with the direct method. Molecular cytogenetic techniques: FISH (Fluorescence In Situ Hybridization); M-FISH (Multiplex-FISH); Chromosome Painting; CGH (Comparative Genomic Hybridization); fibre FISH; production of painting probes from flow sorted and microdissected chromosomes.
Laboratory Practicals (1.5 ECTS, 12 hours/student):
Preparation of slides with mitotic chromosomes; standard staining with Giemsa stain of chromosomes and microscope observation. AgNOR-banding to highlight nucleolar organizer region active sites. G-banding. Image capture with digital camera of metaphase chromosomes stained with Giemsa or banded.
Methods for assessing learning outcomes:
Student learning outcomes are assessed through an oral exam. The oral assessment is based on three main questions concerning three topics among those listed in the course programme.
Criteria for assessing learning outcomes:
During the oral exam, the student will have to demonstrate a proper knowledge of the topics dealt with in the lectures and/or laboratory practicals. The student will have to able to link different topics of the course programme and to use deductive thinking. The student will have to use a proper technical-scientific terminology.
Criteria for measuring learning outcomes:
The final mark is attributed in thirtieths. Successful completion of the examination will lead to grades ranging from 18 to 30 “cum laude”.
Criteria for conferring final mark:
Depending on the answers given by the student, a score ranging from 0 to 10 will be attributed to each of the three questions on which the exam is based. A mark of 30/30 cum laude will be given to those students that will have reached the top mark (30/30) and will have also demonstrated: i) mastery of the subjects using proper technical and scientific terminology; ii) to be able to apply the knowledge to make proper links between the different subjects dealt with in the course programme
Notes taken during the lectures and power point presentations handed out by the lecturer.
Sumner A.T. - Chromosomes: Organization and Function - Wiley-Blackwell; ISBN: 978-0-470-69522-7; Aprile 2008; 304 pages
Mandrioli M. – Principi di citogenetica – Mucchi Editore
Colombo R., Olmo E. – Biologia Cellula e Tessuti – Edi-Ermes (capitoli: 9; 10).
Hartwell, Hood, Goldberg, Reynolds, Silver, Veres – Genetica: dall’analisi formale alla genomica – McGraw-Hill (capitoli: 4; 17 (paragrafo2.5) ; 18).
Lewin B, Cassimeris