DEFINITIONS – BASIC REQUIREMENT Definitions – basic requirement signalmolecules – in a different file! 15. + 16. lectures: Signal pathways types of cell communications 15. lecture: Signal pathway – general principles pheromone paracrine signaling autocrine signaling endocrine communication juxtacrine-effect neurocrine signaling gap-junction connection signal transduction (signal transformation) transferring the signal (relay) signal amplification signal divergence signal modulation scaffold proteins upstream – downstream component negative feedback cross-talk integration of signals desensitization of receptors receptor sequestration domain morphogen slow and fast signalway ligand 15. lecture: Components of signaling pathways transducer Second messenger effector protein cell surface receptor cytoplasmic receptor (nuclear receptor) ionotrope receptor G-protein coupled receptor Enzyme-linked receptor nitric-oxide cAMP cGMP Nobel prize glucocorticoid receptor G protein (monomer, trimer) GPCR (G protein-coupled receptor kinase) Receptor tyrosine kinase (RTK) tyrosine kinase serine/threonine kinase Tyrosine-kinase associated receptors 2012 spring semester page: 1 DEFINITIONS – BASIC REQUIREMENT phosphatase Receptor tyrosine phosphatase MAP kinase inositol triphosphate coincidence detector Ubiquitination Dissociation of an inhibitory protein GTP-binding protein calmodulin CAM-kinase-II calcium-dependent channel The cAMP pathway Phosphoinositol pathway 16.lecture: Main Signaling Pathways chaperon adenil cyclase protein kinase A (PKA) protein kinase C (PKC) phospholipase C inositol-triphosphate (IP3 ) phosphatydil inositol-biphosphate (PIP2), DAG (diacylglycerol) smooth endoplasmic reticulum (SER) Ras PDGF JAK/STAT signaling pathway Janus kinase TGF-β/SMAD signaling pathway NF-κB signaling pathway Reticular versus neuron theory 17. lecture: Neural communication – Introduction afferent neurons efferent neurons interneurons (projection and local) central and peripheral nerve system Excitable cell 17. lecture: Neural communication – Operation of a neuron semipermeable membrane Donnan equilibrium steady state Equilibrium potential Resting membrane potential Transport proteins ion channels Voltage-gated channels Ligand-gated ion channels (ionotropic) Phosphorylation-gated channels Stretch-gated ion channels 2012 spring semester page: 2 DEFINITIONS – BASIC REQUIREMENT ion selectivity filter voltage sensor activation gate inactivation gate Na+/K+-pump K+-channel Na+/Ca+-channels Action potential excitatory postsynaptic potential (EPSP) Inhibitory Postsynaptic Potential (IPSP) Spatio-temporal summation all or none principle threshold potetial depolarization repolarization hyperpolarization saltatory conduction Ranvier node myelinated axons GABA synapse 17. lecture: Neural communication – Communication of neurons chemical synapse, electrical synapse neurotransmitter amino acid neurotransmitters acetylcholine monoamine catecholamines neuropeptid Ionotropic receptor metabotropic receptor Nicotinic acetylcholin receptor Metabotropic receptor glutamate receptor innate immune system 18. lecture: Immunbiology - I adaptive immune system thymus bone marrow anatomical barriers granulocyte inflammation cellular immune response humoral immune response lymphoid organs pathogen-associated molecular patterns (PAMPs) pattern recognition receptors TLR (toll-like receptor) 2012 spring semester page: 3 DEFINITIONS – BASIC REQUIREMENT Hematopeietic stem cells (HSCs) lymphoid progenitor cells myeloid progenitor cells hematopoesis central (primary) lymphoid organs peripheral (secondary) lymphoid organs cytotoxic T cells helper T cells regulatory (suppressor) T cells B cells lymphocytes The clonal selection theory epitope immundominant epitope immunological memory immunological tolerance antibody antigen classes of antibodies B cell development antibody: heavy chain, light chain antibody: constant and variable regions IG domains antibody diversity primary antibody repertoire secondary antibody repertoire combinatorial diversification Somatic hypermutation class switching activation-induced deaminase (AID) affinity maturation germinal centers T receptor MHC proteins antigen-presenting cells MHC-I MHC-II dendritic cells chromosome imprinting 19. lecture: Developmental Genetics X chromosome inactivation Barr body embryonic induction maternal effect Drosophila blastoderm fate map ectopic position 2012 spring semester page: 4 DEFINITIONS – BASIC REQUIREMENT neural tube bicoid gene zygotic lethal mutations hunchback gene Krüppel gene gap gene pair-rule gene homeiotic genes, hox genes Antennapedia complex Bithorax complex homeobox homeodomain phenocopy bithorax mutation, homeiotic mutation atavism homeiosis Holt-Orem syndrome AER (apical ectodermal ridge) Contergan babies in situ hybridisation monoamine-oxidase (MAO) 20. lecture: Genes and Behavior serotonin transporter (SERT) MAO-A gene NO synthase testosterone grb10 gene (dominance) COMT gene (catechol-O-methyl transferase) addiction Ddr2 gene (dopamin receptor) monogamous – AVPR1a gene (arginin vasopressin) Ddr4-R7 – novelty seeking biotechnology 21. lecture: Biotechnology “colors” of biotechnology gentechnology recombinant gentechnology molecular cloning 21. lecture: cloning cell cloning organism cloning reproductive cloning therapeutic (research) cloning asexual and sexual cloning natural cloning cloning of a frog cloning of dolly and snoopy epigenetic reprogramming illegitimate recombination 21. lecture: Rekombinant gentechnology 2012 spring semester page: 5 DEFINITIONS – BASIC REQUIREMENT homologous recombination primary cell culture immortalized cell lines tumor cell lines Gene delivery techniques to cultured cells liposom (gene delivery) transgene transient expression stabile expression GMO transgenic organism Gene delivery to germ line cells Gene delivery to body (somatic) cells pronuclear microinjection knockout animals recombinant protein recombinant insulin polyclonal antibodies monoclonal antibodies antibiotics First generation GMOs 21. lecture: GMO Second generation GMOs Third generation GMOs pesticide golden rice transgenic livestock beningn tumor 22. lecture: Cancer pre-malignant tumor malignant tumor (cancer) carcinoma sarcoma adenocarcinoma leukemia lymphoma proto-oncogene oncogene tumorsupressor gene two hit hypothesis multiple-hit hypothesis Human papillom virus sporadic tumor neurofibromatosis adenomatosis poliposis coli retinoblastoma p53 and cancer BRCA 2012 spring semester page: 6 DEFINITIONS – BASIC REQUIREMENT Xeroderma pigmentosum miRNAs and cancer metastasis seed and soil' theory founder effect EGF – epidermal growth factor receptor Fibroblast growth factors (FGFs) Platelet-derived growth factor (PDGF) Growth factor receptors (GFRs) Ras oncogene mutation 23. lecture: Chromosomal disorders non-disjunction euploidy aneuploidy trisomy monosomy triploid, tetraploid, hexaploid translocation transposition inversion duplication deficiency addiction deletion transition transversion frame shift mutation basepair substitution Down-symdrome Edwards-syndrome Patau-syndrome Williams-syndrome Wolf-Hirschorn-syndrome Prader-Willi-syndrome Angelman-syndrome Klinefelter-syndrome Turner-syndrome Cri-du-chat-syndrome X chromosome pseudo-autosomale region genetic imbalance haplo-insufficient triplo-abnormality Robertson-translocation partial trisomy acrocentric chromosom 2012 spring semester page: 7 DEFINITIONS – BASIC REQUIREMENT loss of function mutation gain of function dominant negative mutation neomorf mutation polydactyly Marfan-syndrome single gene disorder 24. lecture: Monogenic disorders complex-, poligenic-, multifactorial disease Heterozygote advantage cystic fibrosis sickle cell anemia Phenylketonuria SCID X-linked SCID ADA deficiency Duchenne-muscular dystrophy aneroxia nervosa 24. lecture: Obesity, Mitochondrial diseases, Osteoporosis leptin POMC orexigen signals osteoporosis bone matrix remodeling mitochondrial disease mitochondrial DNA “all or nothing” principle 24. lecture: Cardiovascular diseases action potentials arrythmia Sudden cardiac death long QT syndrome Romano-Ward syndrome Hypersensitivity 24. lecture: Immunological disorders asthma Reumatoid arthritis insulin-dependent diabetes (type I.) stress response 25. lecture: Mental disorders of the mind HPA axis Anxiety benzodiazepine COMT gene – anxiety depression – monoamine hypothesis depression - diathesis hypothesis serotonin-reuptake pump SSRI depression – SERT gene schizophrenia – dopamine hypothesis 2012 spring semester page: 8 DEFINITIONS – BASIC REQUIREMENT schizophrenia – glutamate hypothesis NMDA receptor Huntington disease 25. lecture: Disorders of the brain huntingtin gene guanine expansion Parkinson disease – dopamine hypothesis Alzheimer disease – cholinergic hypothesis Alzheimer disease – amyloid hypothesis Alzheimer disease – tau hypothesis 26. lecture: Stem cells totipotent stem cell pluripotent stem cell multipotent stem cell unipotent stem cell postmitotic stem cell embryonic stem cell adult stem cell progenitor cell Umbilical Cord Blood inner cell mass blastocysts nuclear transfer in vitro fertilization bone marrow transplantation Induced pluripotent stem cells (iPSC) germ line gene therapy 26. lecture: Gene therapy somatic gene therapy retrovirus vector Edward Jenner 26. lecture: Vaccines passive immunisation aktive immunisation inactivated vaccine live vaccine attenuated vaccine cowpox recombinant vaccine evidence-based medicine 27. lecture: Medical Genomics translational medicine medical genomics personalized medicine predictive medicine molecular biology molecular genomics structural genomics functional genomics integrative genomics 2012 spring semester page: 9 DEFINITIONS – BASIC REQUIREMENT transcriptomics proteomics comparative genomics in silico genomics genetic marker phenotypic marker physical distance genetic distance centiMorgan gene conversion recombination fraction SNP haplotype haplotype mapping ancient haplotype lacZ gene 28. lecture: Frontiers of Molecular Biology Fluorescent protein GFP BAC technology DNA template Seminar, Practice DNA polymerase Primer Buffer PCR Restriction endonuclease DNS ligase Plasmid vector Western blot ELISA polyacrylamide gel elektrophoresis Blotting Sanger sequencing method dideoxi-nucleotide Stop-nucleotide method DNA chip Chromosome walking Real-Time PCR SYBR Green Please note that the definition list contains terms that only occurs in the "Definitions" section of the exam paper. To learning this material are not substitute the meaningful learning of the whole material. 2012 spring semester page: 10