Ateneo - UPO

Macro subjects proposed during the course are related to traits inheritance (humans, bacterial, plants); genetic maps; bacterial, viral and eukaryotic genetics; molecular genetics; DNA and chromosomes; transcription; translation; mutations and their effects (even pathological) on the human, animal and plant phenotype; gene expression regulation; allelic frequencies and evolutionary forces; quantitative traits and approaches to study QTLs.

Genetica, Binelli e Ghisotti, EdiSes, ed. 2018
Genetica, Pierce, Zanichelli, ed. 2016

Teaching purpose is to transfer to student basic concepts of general genetics to understand genetic bases at the root of particular traits and molecular bases leading to modify, even patologically, plant, human and animal phenotypes. An additional purpose is to confer to student skills in analyzing, by means of statistical procedures, a given genetic hypothesis and to verify how a population can vary in presence of evolutionary forces.

Basic concepts of biology and statistics will favour understanding of the course topics.

Teaching procedure: traditional with PowerPoint slides. The course is organized in about 60 hours of frontal lessons and about 12 hours of theoretical exercises. Frontal lessons will be carried out by projection of PowerPoint slides. In the theoretical exercises, concepts of the lessons will be deepened through the resolution of genetics problems. Teaching materials of the course will be made available through the UPO DIR platform. Materials used for the theoretical exercises will be provided during the course.

Examination procedure: written test; Lessons attendance is strongly suggested; Examination intends to evaluate skills of the student in applying concepts learning during the course. Examination is a written test that will include questions with multiple answers, resolution of genetics problems ans some open questions. Questions will cover all the topics of the course, available time is 2 hours.
Possible additional information about examination procedures will be described at the beginning of the course.

In general, after 4 points of the programme have been teached, an exercise lesson is foreseen in which topics of the previous lessons are dissected. During the exercise lessons, the capability of students in dealing with arguments is tested, whenever possible, through direct interactions with students. If problems are detected, suggestions are provided in order to overcome the weakness. Last lesson of the course is dedicated to an exam simulation, consisting in a test with 30 questions. Even in this verification a direct interaction with students is adopted to test their skills and weakness and a support is provided in order to integrate possible weakness.

• 1 Physical bases of inheritance. Cell cycle. Chromosomes, mitosis and meiosis; crossing over and differences among mitosis and meiosis; main principles of procariotes and eucariotes biological cycles.
• 2 Transmission of genetic traits. Mendelian inheritance: segregation and independent trait assortments. Statistical elaboration of mendelian segregation. Extension of mendelian inheritance. Blood groups and denial of paternity. Analysis of mendelian inheritance in humans: family trees. Sex-linked inheritance. Genetic sex determination.
• 3 Chromosome theory of inheritance, linkage and recombination. Meiotic crossing-over. Gene mapping in diploid organisms. Map distance and genetic map construction. Statistical verification of linkage. Three-points back cross, interference and coincidence coefficient.
• 4 Gene functions: metabolic chains and hypothesis one gene-one enzyme. Genes interaction. Gene complementation. Main principles of pleiotropy, penetrance, expressivity.
• 5 Genetics of microrganisms: haploid bacteria. Bacterial titres. Mutants in bacteria and their selection. Plasmids. F factor and its characteristics. F’ factor and partial diploid bacteria. Transfer of genetic information in bacteria: conjugation, transformation, transduction. Virus genetics.
• 6 Cloning vectors. Cloning of DNA fragments. Genetic matrial manipulation. Restriction enzymes. Recombinant DNA. Transformation. Main principles of plant transformation.
• 7 Structure and composition of DNA and chromosomes. Structure of centromeres and telomeres. DNA replication in procariotes and eucariotes. Differences in replication among pro- and eucariotes.
• 8 Structure and classes of mRNAs. Proteins involved in transcription. The transcription processes in procariotes and eucariotes. RNA maturation in eucariotes. Structure of the gene. Sizes of genes and introns. Multiple copy genes and gene familes.
• 9 The genetic code and its characteristics. Ptrotein synthesis phases in procariotes and eucariotes. Differences in the translation process among pro- and eucariotes.
• 10 Point mutations. Induced and spontaneous mutations. Molecular bases of mutations and their frequency. Reversion and suppression of mutation.
• 11 The caryotype and procedure sto define a caryotype. Chromosomal mutations: deletions, duplications, inversions and translocations and their phenotypic effects.
• 12 Genomic mutations: euploidy and aneuploidy. Genetic diseases caused by aneuploidy. Autopolyploid and Allopolyploid (origin and characteristics).
• 13 Mutagenic agents. Ames test. Essentials on mutations by transposable elements in procariotes and eucariotes. DNA repair mechanisms. Disorders caused by defects in DNA repair mechanisms.
• 14 Regulation of gene expression in procariotes. Regulation system for Lac and Trp operons. Post-transcriptional and post-translational regulations.
• 15 Principal elements of gene expression regulation in eucariotes. Transcription factors and regulatory sequences. Regulation by combinatorial mechanisms. Regulation by alternative splicing, mRNAs stability, mRNA localization, RNA interference.
• 16 Population genetics. Model population, allelic and genotypic frequences. Hardy–Weinberg equilibrium and law. Implications of Hardy–Weinberg law. Gene frequency variation: mutation, selection, migration, genetic drift and inbreeding.
• 17 Quantitative genetics. Quantitative traits. Statistical concepts (distributions, average, variance, standard deviation, correlation, regression). Components of the phenotypic variance. Heritability. Artificial selection and response to selection. Main principles on molecular biology applications to study quantitative traits.

Knowledge and understanding: it is expected that a Genetic I course, characterized by several specific and characterizing topics, the specific knowledge level, so far as the student will dedicate the time that will deserve, will be in agreement with International standards. This will allow the student to deal with genetic problems in the human/animal and plant sectors.
Applying knowledge and understanding: the course section based on exercises involves the capability in applying knowledge acquired during theoretical lessons; it is therefore expected an increased problem solving aptitude in genetics, which is correlated to an increased understanding of the problem itself.
Making judments: it is expected an increased personalized judment capability, based on genetics-related arguments
Communication skills: a knowledge-based increased skills in communications are expected about genetics-related topics
Learning skills: knowledge in general genetics offers a robust cultural base for understanding several other subjects; a san exemplification it can be mentioned cellular biology, biochemistry, molecular biology. It is therefore expected an improved capability in understanding several different biology-related subjects.