a) LEARNING OBJECTIVES

The course introduces the fundamental concepts and experimental approaches to the study of cytogenetics, a branch of genetics that analyzes the structure of the chromosomes to determine the relationship existing between the hereditary and specific karyotypes characters.
The course aims to consolidate and expand the knowledge base on chromatin structure and its intranuclear organization, the metaphase chromosome as well as its specialized structures such as centromere, telomere and fragile sites and their role in maintaining genome stability. The course also aims to address the study of human chromosomal instability syndromes and the role of the biologist in their diagnosis using classical and molecular cytogenetics techniques.
It also provides a basis for specialized studies such as the analysis of chromosomal aberrations in biological dosimetry and the use of the Comet test in genotoxicity. In particular, these issues are provided in the laboratory practice.

b) EXPECTED LEARNING RESULTS

Knowledge and understanding
At the end of the course students will have a thorough knowledge of the basic principles of cytogenetics such as organizing intranuclear chromatin, the chromosome structure and its specialized components. In addition, they will have learned the main classical and molecular cytogenetic techniques. Finally, they will have gained the ability to process the diagnostic protocols, the use of chromosomal aberrations as a biological dosimeter and the Comet assay as a tool for the study of genotoxicity.

Applying knowledge and understanding
Students will be encouraged to take advantage of the knowledge acquired during the course and during laboratory practice in order to apply them to specific issues such as, for example, the identification of a specific chromosomal instability syndrome or the genotoxic capacity of chemical or physical agent as well as the application potential of the techniques learned.

Making judgements
Students will be able to interpret and discuss scientific papers presented during class and be able to identify in them the highlights and key points.

Communication skills
During the lessons it will be stimulated students' ability to think and discuss about the topics covered as well as the comparison of opinions to develop their communication skills. These skills will then be tested in the examination.

Learning skills
Students will be able to expose and develop scientific issues related to the course. The active involvement of students through oral classroom discussions and experiences in the laboratory practices, will develop that skill.

c) Program

The structure of chromatin in eukaryotes: histones and histone proteins; The nucleosome; Chromatin fiber; Hints on histone modifications; Histone variants and specialized folding domains; The solenoid; The loop domains; Models of the metaphase chromosome; Mechanical properties of chromosomes. Chromosomal Territories: Their Dynamic Organization (Chromosomal Territories, Interchromatinic Domain, Nuclear Matrix); Experimental evidence and models; Chromosomal territories and cytogenetic damage. Evolution of the eukaryotic genome: organization in isochores; Compositional correlation; Distribution of genes and compartmentalization of the genome; Compositional transition in the vertebrates, their causes and their maintenance. Relationship between chromosomal territories and isochore content. The telomere: structure; function; Telomeric and accessory proteins; Replication (telomerase and recombination); Regulation of the elongation. The centromere: structure, function and accessory proteins in the lower eukaryotes; Structure, function and additional proteins in the higher eukaryotes; Epigenetic control of the centromere. The fragile sites: classification and structure; Genes at fragile sites; Fragile sites and cellular checkpoints; Repair at fragile sites; Instability of fragile sites in tumors; The X-fragile syndrome. Chromosome banding: differential banding techniques (bands G, R, Q); Selective banding techniques (bands C, NOR, G-11, restriction enzymes); Fluorochrome and counterstaining techniques; Replication banding; High resolution banding; Banding applications (karyotype study, chromosome aberration study, diagnostic and medical applications, etc.). Fluorescent in situ hybridization: basic concepts; The technique; Applications in classical and interfase cytogenetics, mutagenesis, diagnostic and medical fields, etc. The "Comet" assay: the technique and its applications. Chromosomal aberrations: classification. Theories. Molecular mechanisms of formation. Chromosomal instability syndromes. Biological dosimetry. Biological significance and consequences of chromosomal aberrations. Experimental laboratory (1 CFU) on induction and analysis of chromosomal aberrations and sister chromatid exchanges; Comet assay.

RECOMMENDED TEXTBOOKS

The teaching materials and all the lessons in power-point format are provided by the teacher.

Non-attending students are encouraged to contact the lecturer for information on the program, teaching materials and evaluation of the profit.