Molecular Genetics A
Faculdade de Ciências e Tecnologia
Departamento de Ciências da Vida
Teacher in charge
Maria Leonor Leal da Silva Osório, Pedro Miguel Ribeiro Viana Baptista
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.
Students should have succeeded in their Molecular Biology studies.
Labs mandatory, and reports (written and discussion). Participation in problem solving sessions.
Genome organisation: structure of eukaryotic chromosomes. Histones and chromatin. Genome evolution: genes, gene duplication and evolution, introns, pseudogenes.
Replication in eukaryotes.
Transcription in eukaryotes: function and structure of RNA polymerases. Start of transcription (regulation). Synthesis and mRNA processing; incitation, promoters, enhancers, repressors. Transcription factors: mechanisms, motifs, regulation of activity,. Chromatin and transcription regulation: heterochromatin and euchromatin, positional effect, histone regulation.
Methylation and imprinting; mRNA processing (CAP and polyandenylation); splicing and alternative splicing and exon shuffling/skipping.; RNA edition. mRNA maturation: 3’UTR/5’UTR – IRES; non-sense mediated decay; RNAi.
Translation and protein quality control (ubiquitine and proteosome)
Cell cycle regulation and tumorigenesis: gene alterations in cancer; proto-oncogene and tumour suppressor gene (activation, TSG and LOH, haploinufficiency; p53 and cell cycle control.
Human genome project: physical mapping and positional cloning, genomic libraries, sequencing (sequence annotation, gene mining and SNPs)
Total genomic DNA purification (eukaryotic); PCR (nested, competitive and quantitative), Total RNA purification.
1. Baptista, P.V.;-- Osório-Almeida - Genética Molecular - 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 (or later editions - 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
Written reports assessment; classroom participation (lab and problem solving sessions) - mandatory; max grade 4
Seminar - mandatory; max grade 2
Exam - max grade 14