Molecular Genetics B
Students should be able to complement their formation in Genetics: organisation os genomes and gene expression, and to interpreter experimental results through application of theory. Students should understand the mechanisms involved in gene regulation, and should be able to summarise experiments, and/or put forward strategies that enable their comprehension of Molecular Genetics.
All the competences should be acquired keep in the Cell in mind, being able to establish the connection between genotype and phenotype.
Molecular Genetics will focus and centre around the molecular mechanisms in humans.
Pedro Miguel Ribeiro Viana Baptista
Weekly - 4
Total - 71
Students should have succeeded in their Molecular Biology studies - frequência Obrigatória
Labs mandatory, and reports (written and discussion). Participation in problem solving sessions.
1. Baptista, P.V. Protocolos trabalhos práticos 2. DARNELL, J.E: et al – Molecular Cell Biology, Fifth Edition, Sci. Amer. Books, W.H. Freeman and Co., N.Y., 2003 3. DARNELL, J.E: et al – Molecular Cell Biology, Fourth Edition, Sci. Amer. Books, W.H. Freeman and Co., N.Y., 1999 4. VIDEIRA, A. - Engenharia Genética, Princípios e Aplicações, Lidel, 2001 5. LEWIN, B. – GENES VII, Oxford Uni. Press, USA, 2000 (ou edições posteriores - VIII, IX); 6- Arraiano, CM; et al - O Mundo do RNA, Lidel, Lisboa, Portugal, 2007
Labs (compuslory) - applying theoy in a practical context; written reports with discussion of results.
Problem solving sessions
Theoretical and practical assessment (ATP) - 60%
1.1. two tests with theoretical and practical content or
1.2. Exam (Recurso) with theoretical and practical content to be performed by students who choose to assessment by Exam or have not passed the continuous ATP component.
1.3. Since N1 and N2 are the scores (0-20) of test 1 and 2, respectively, then the final ATP score = 0.4xN1 + 0.6xN2
Laboratory evaluation (LA) - Total: 30%
2.1. report group laboratory work [15%]
2.2. custom report discussion [15%]
Summative Assessment (AS) - 10%
3.1. individual in all practical and theoretical-practical sessions
4.1. The lab (including report and discussion) is required for all students without attendance.
4.2. Frequency Obtaining: AL + AS> = 4 values
4.3. Once the UC frequency is obtained, it is valid for subsequent years.
5.1. Get Frequency
5.2. N1 or N2 must> = 5
5.3. ATP> = 6 (0-12)
5.4. when ATP> = 6 (0-12), if N1> = 2 * N2 or N2> = 2 * N1, defense may take place. The grade defense will be an oral exam focusing on the contents of N1 and N2.
6.1. Melhoria will focus on the entire UC program evaluated.
6.2. Melhoria is an Oral Exam
At any time, in order to clarify some element of the evaluation process, an oral examination may be held.
Students who are assessed in the exam may be subjected to Viva when the exam evaluation> 17
Resolution of any missing infor will be decided by the UC Heads / Regents.
Genome organisation: structure of eukaryotic chromosomes. Histones and chromatin. Genome evolution: genes, gene duplication and evolution, introns, pseudogenes.
Replication in eukaryotes.
Transcription in eukaryotes: Synthesis and mRNA processing; incitation, promoters, enhancers, repressors. Transcription factors. Chromatin and transcription regulation: heterochromatin and euchromatin, positional effect, histone regulation.
Methylation and imprinting; mRNA processing; splicing and alternative splicing and exon shuffling/skipping.; RNA edition. mRNA maturation: 3’UTR/5’UTR; NMD; RNAi.
Tumorigenesis: gene alterations in cancer; proto-oncogene and tumour suppressor gene (activation, TSG and LOH, haploinufficiency; p53 and cell cycle control.
Total RNA purification (eukaryotic); PCR (nested, competitive and quantitative).