BKBI011 Biology

Faculty of Medicine
Autumn 2009
Extent and Intensity
2/0/0. 3 credit(s). Type of Completion: zk (examination).
Teacher(s)
prof. MUDr. Marie Kopecká, CSc. (lecturer)
prof. MUDr. Augustin Svoboda, CSc., dr. h.c. (lecturer)
prof. Ing. Petr Dvořák, CSc. (lecturer)
Debora Ledahudcová (assistant)
Ing. Lucia Ráheľová (assistant)
Guaranteed by
prof. MUDr. Marie Kopecká, CSc.
Department of Biology – Theoretical Departments – Faculty of Medicine
Contact Person: prof. MUDr. Marie Kopecká, CSc.
Timetable
Wed 7:30–9:10 KOM 200
Course Enrolment Limitations
The course is only offered to the students of the study fields the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
The course is focused on actual knowledge from molecular and cell biology and genetics. It includes the lectures on biopolymers, DNA replication, transcription, translation, methods of study of genes, membrane system of the cell, the cytoskeleton, cell division cycle, reproduction, principles of vertical transfer of genetic information, cell differentiation, stem cells, gene diagnostics, and the human genome with application on human biology.
Syllabus
  • Part 1. – Molecular and cell biology: Viruses - morphology, size, classification (plant viruses, animal viruses, human viruses, bacteriophages), structure of virus particles, viral genome, capsid, enveloped viruses, glycoprotein spikes, their function; Bacteriophage, size, shape, infection manner adsorption, NA, protein envelope, lytic cycle, lysogenic cycle, their principles and consequences, prophage induction of lytic cycle, transduction. Multiplication of viruses, species and organ specificity, virus- cell interaction, synthesis of NA by retroviruses - reverse transcription, synthesis of capsid proteins, synthesis of envelope and integral proteins (spikes), (exocytosis pathway). Virogeny, provirus, principles, consequences, mechanisms of virion release, budding of viruses. Oncoviruses, RNA viruses, reverse transcription, hybrid RNA/DNA, viruses as vectors of proto-oncogenes - mechanisms. Bacterial cell, overview of structures, host bacteria relations (cooperation pathogenic bacteria), G- and G+ bacteria, bacterial cell wall structure, the effect of penicilline and antibiotics, generally. Circular chromosome of bacteria, differences between prokaryotes and eukaryotes, replication, linear arrangement of genes, regulatory genes. Plasmids, characteristics, plasmids and antibiotic resistance. Plasmids and gene manipulations. Differences between prokaryotic and eukaryotic cell. Biopolymers (general overview). Proteins (general overview), characteristics - polymers, structural, metabolic, informational, signal functions; monomers amino acids, the number, characteristics; importance of amino acid spectrum for protein molecule properties, peptide bond, definition of polypeptides, protein isomers, N-end, C-end, heteroproteins. Protein structure - primary (amino acid spectrum, sequence, importance for polypeptide properties); secondary and tertiary structure (structure; importance of three-dimensional configuration for functional specificity of proteins); structure of subunit proteins, (occurrence, significance). Functions of proteins Structural proteins - examples, Enzymes, kinetics of enzyme reaction (examples) - catalysis, optima conditions of activity, activation, inhibition, allosteric regulation of enzymes. Examples endonucleases, restriction endonucleases, protein kinases, etc. Signal functions of proteins, inhibition, activation, second messenger, molecular recognition - antigen antibody interaction, signal significance of glycoproteins. Nucleic acids generally, overview, importance; DNA, RNA (pre-mRNA, mRNA, rRNA, tRNA, heterogeneous hRNA (exons introns, splicing) , cDNA. DNA structure (primary, secondary), nucleotides, complementary bases, types of linkage, double helix characteristics, RNA, types, characteristics, functions, synthesis. Prokaryotic chromosome , structure, replication, gene locus, (mitochondrial DNA). Plasmids. Organisation of eukaryotic chromosome. Structure (nucleosome fiber, condensation), analysis. Human chromosomes, characteristics, human karyotype. In vitro replication of DNA -PCR, principle, significance. Replication of DNA, unfolding of DNA molecule, DNA polymerases, DNA synthesis (53), lagging ans leading strands, Okazaki fragments, telomeres (telomerase)... Transcription, mechanism, enzymes, pre-mRNA, splicing, exons introns, modification of RNA. Gene mutations types, consequences, mutagenic factories. Methods of molecular genetics preparation of DNA for in vitro manipulations, restriction endonucleases, recombinant DNA, hybridization, Southern blotting, sequencing of DNA (Sanger, Maxam-Gilbert), cloning of DNA, DNA libraries, (vectors), restriction analysis the use in diagnostics (detection of mutations, RFLP). Protein synthesis (realization of genetic information, translation, genetic code). DNA coding and template chain, gene, transcription - mRNA, principle of translation, 4 nucleotides - 20 amino acids, triplets, codons - anticodons. Translation genetic code (triplet codon, start and stop codons, initiation, elongation, termination, explanation of the principal of translation on the example of frame-shift mutation. Regulation of translation- operon principle. Ribosomes, subunits, A-site, P-site, E-site, tRNA - linkage to amino acids, aminoacyl tRNA synthetase, transport role of tRNA, polyribosomes. Exocytosis pathway of proteins significance of exocytosis (endocytosis), rough ER, synthesis of proteins and translocation to ER, posttranslation modification of proteins, Golgi apparatus, transport vesicles, secretion, membrane fusion. General cell organization- endomembrane system, cell compartmentalization, cell heredity system, cytoskeletal system. General membrane structure membrane components - phospholipids, proteins, glycoproteins, glycolipids, lipoproteins self-assembly of lipid structures (myelin sheats), integral membrane proteins, examples of functions of membrane proteins. Membrane system of the cell - general overview. Plasma membrane - structure - bimolecular lipid film and properties, integral membrane proteins, peripheral membrane proteins. Current fluid mosaic model of plasma membrane, importance, evidence for the drifting of membrane proteins. Plasma membrane - functions (compartmentalization, osmotic barrier, signal transduction, receptors importance of glycoproteins, glycocalyx). Transport of molecules through membranes passive diffusion, principle of osmosis, role of membrane proteins passive transport, active transport, transport proteins (Na-K pump). Pinocytosis, receptor mediated endocytosis, fagocytosis, vesicular transport, clathrin coated vesicles. Osmotic phenomena in the cell. Secretory (exocytosis) pathway. Membrane structures of the cell and their main functions. (PM, nuclear envelope, endoplasmatic reticulum, Golgi apparatus, structure and function of mitochondria, lyzosomes, perixosomes catabolic reactions.) Mitochondria energy yielding pathways, (mitochondrial chromosome - genes). Cytoskeletal system of the cell - MTs, MFs, IMFs (various functions), occurence: (bacteria?, animal cells, plant cells). Cytoskeleton- associated proteins. Microtubular system, construction subunits, dimers, function, MTOC. Basic functions (flagella, cilia, mitotic spindle - (types of MTs cytoplasmatic MTs, spindle MTs: kinetochor MTs, polar MTs and astral MTs), axon transport - neurons), vectors, polymeration (+- ends), transport function. MTs associated molecular motors - dynein, kinesin, ATPases, mitotic poisons - cytostatics. Microfilament system, construction - G, F actin, functions - cytokinesis, targeted transport, stress filaments, locomotion and shape of the cell (fagocytosis), muscle movement, actomyosin complex of the muscle, composition, function; associated proteins, myosin. Intermediate filaments, function, importance (skeleton), occurence, protein heterogeneity, the use in diagnostics. Molecular motor proteins generally - ATPases. Nuclear skeleton (nuclear lamina, chromosome attachment, reassembly in telophase). Sub-membrane skeleton - signal functions. Exoskeleton. Cell division cycle - definition, G0, G1, S, G2, M phases, cytokinesis. Checkpoints in the cell cycle. DNA synthesis in S phase. MPF, cyclins, cyclin-dependent protein kinases of the cell division cycle (CDK). Genes of the cell cycle (cdc). Structure of nucleus of eucaryotes in interphase - histons, nucleosome structure, chromosome. Nucleus in the mitosis (karyokinesis) interphase nucleus mitosis: pro, pro-meta, meta, early and late anaphase and telophase; formation of mitotic spindle polar MTs, function of MTOC, MTs of mitotic spindle and cytoplasmic MTs, kinetochore MTs , astral MTs, gliding of MTs. Sex and chromosomes, number of chromosomes in the cell. Bacterial chromosome (circular), + a mating type of lower organisms. Homo sapiens, diploid state, haploid gametes, chromosomes X, Y; biologic importance of sexuality. Meiosis: 1. a 2. meiotic division, 1. prophase: le-, zy-, pa- (crossing over), di- and diakinesis. Mechanism of chromosome segregation, tetrad, chiasma. Synaptonemal complex. Reduction in a number of chromosomes, levels of recombination. Genetic recombination during gametogenesis, crossing-over, fertilization. Consequences. Mechanisms of cancer transformation, properties of tumor cells, multi-step model for the development of colorectal cancer, mutagenes, cancerogenes, cytostatics. Oncogenes, proto-oncogenes, tumor- supressor genes, oncogenic viruses. Part 2. Human Genetics: Terms: gen, allele, allelic interactions, explanation using examples generally; genotype, phenotype. Multiple allelism, locus. Epistasis, hypostasis. Mendels laws, general overview, explanation using examples. Monogenic inheritance, polygenic inheritance , examples. Expression of genetic information. From the gene (triplets) to the primary structure of polypeptide. Human chromosomes, karyotype, autosomes, gonosomes, (chromosomal aberrations and consequences). Chromosome determination of the sex, characteristics of gonosomal inheritance. Autosomal inheritance, inherited autosomal traits (diseases) - examples. General principles of the transfer of autosomal dominant and recessive traits. Blood groups, genotypes, examples of genetic prognosis, the use of ABO system in paternity testing. Rh factor. Gonosomal inheritance (generally). General principles of the transfer of gonosomal dominant and recessive traits. Gonosomal inheritance, examples. Examples of monogenic diseases (hemoglobinopathies, molecular diseases, inborn errors of metabolism enzyme defects, classical gonosomal diseases (hemophilia, daltonism, muscular dystrophy). Genetic symbols in pedigrees practical use of the genetic symbols. Mutations (generally) - gene, chromosomal, genomic mutations. Gene mutation, types, classification, consequences, importance, examples. Numerical chromosomal aberrations of autosomes and gonosomes. Their pathological consequences (examples). Non-disjunction, mechanisms, consequences. Trisomy; balanced chromosome state; Down syndrome, other examples. Nullisomy, monosomy. Chromosomal translocations, types, consequences. Structural aberrations of chromosomes, cytogenetic findings, pathological consequences, causes, diagnostic importance. Somatic mutations. Genetic prognosis, general characteristics. Genetic prognosis: prerequisites, estimation of the genetic risk of the disease. Genetic prognosis estimation of genotypes based on phenotype analysis (examples), analysis from pedigree examples. Estimation of heterozygotes. Possibilities of genetic methods (from phenotype to genetic risk estimation). Medical importance of estimation of genotype (heterozygote) for genetic risk estimation. Prenatal diagnostics - principles and importance. Hardy-Weinberg principle and its application, the use of the knowledge of population biology. Genetic risk estimation using data from population genetics. General comparison of the human genetics and population genetics. Allele and genotype frequences, equilibrium state. Panmictic and autogamic populations, the consequences. Random mating, inbreeding. Polygenic traits (diseases), principle of their inheritance, heritability and the influence of the environment. Principles of gene diagnostics methods. DNA diagnostics direct, gene probes, indirect (generally) restriction fragments of DNA, gene polymorphism, restriction endonucleases; polymerase chain reaction (PCR). Principles of the gene therapy. Terms: fingerprinting, fluorescence in situ hybridization (FISH). Information on textbooks. Obligatory textbook - Campbell, N., Reece, J.B. Biology 7th ed., 2005 (ISBN 10: 08 05 371 46X, ISBN13: 978 080 537 1468). Further recommended literature: Alberts B. et al., Essential Cell Biology (2004). Lodish, H., Berk, A., Matsudaira, P., Kaiser,C.A., Krieger, M., Scott, M.P., Zipurski, L., Darnell, J.: Molecular Cell Biology 5th ed., 2004 (ISBN: 0-7167-4366-3). Alberts B. et al.: Molecular Biology of the Cell (2002). Medical genetics: selected chapters of Thompson and Thompson, Clinical genetics (2004). Principles of genetic prognosis, examples and methods of molecular genetics, DNA diagnosis – Medical biology part II, Genetics (lab book for medical students), Kopecká et al., Brno 2002 – seminars and selected parts of protocols for practicals.
Literature
  • Campbell N.A., Reece, J.B.: BIOLOGIE (2006) Computer Press, a.s., Brno, ISBN 80-251-1178-4, (doporučené kapitoly 5-8, 11-20, 27-28), (český překlad 6. vydání americké učebnice z r. 2002, vydané Pearson Education, Benjamin Cummings)
  • Alberts, B., Bray, D., Johnson, A., Lewis, J., Raff, M., Roberts, K., Walter, P. (2001). ZÁKLADY BUNĚČNÉ BIOLOGIE: ÚVOD DO MOLEKULÁRNÍ BIOLOGIE BUŇKY.Espero Publishing, Ústí nad Labem. ISBN 80- 902906-0-4 (doporučené kapitoly 5-12, 14, 16-18)
  • Miniskriptum v PDF: V. Raclavský: Úvod do základních metod molekulární genetiky. http://biologie.upol.cz/download/vseo_stom/Miniskriptum%20Raclavsky.pdf (doporučeno celé)
  • Nečas, O. a kol. Obecná biologie pro LF. H & H (2000) ISBN 80-86022-46-3 (doporučené kapitoly II-V)
  • K přípravě dědičnost - základy genet. prognózy, příklady a metody molek. genetiky a genová diagnostika použít skriptum: LÉKAŘSKÁ BIOLOGIE, ČÁST 2. - GENETIKA (praktická cvičení), KOPECKÁ a spol., Brno 2002 - semináře a vybrané části příp. protokolů
Teaching methods
two-hour lecture per week
Assessment methods
written test at the end of semester, lecture attendance is optional
Language of instruction
Czech
Further comments (probably available only in Czech)
Study Materials
The course is taught annually.
Listed among pre-requisites of other courses
The course is also listed under the following terms Autumn 2000, Autumn 2001, Autumn 2002, Autumn 2003, Autumn 2004, Autumn 2005, Autumn 2006, Autumn 2007, Autumn 2008, Autumn 2010, Autumn 2011, Autumn 2012, Autumn 2013, Autumn 2014, Autumn 2015, Autumn 2016, Autumn 2017, autumn 2018, autumn 2019, autumn 2020, autumn 2021, autumn 2022, autumn 2023, autumn 2024.
  • Enrolment Statistics (Autumn 2009, recent)
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