Einführung in die Genetik - PDF

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Einführung in die Genetik Prof. Dr. Kay Schneitz (EBio Pflanzen) #genetiktum FB: Plant Development TUM Prof. Dr. Claus Schwechheimer

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Einführung in die Genetik Prof. Dr. Kay Schneitz (EBio Pflanzen) #genetiktum FB: Plant Development TUM Prof. Dr. Claus Schwechheimer (PlaSysBiol) Einführung in die Genetik - Inhalte 1 Einführung KS 2 Struktur von Genen und Chromosomen KS 3 Genfunktion KS 4 Transmission der DNA während der Zellteilung KS 5 Vererbung von Einzelgenveränderungen KS 6 Genetische Rekombination (Eukaryonten) KS 7 Genetische Rekombination (Bakterien/Viren) KS 8 Rekombinante DNA-Technologie CS 9 Kartierung/Charakterisierung ganzer Genome CS 10 Genmutationen: Ursache und Reparatur CS 11 Veränderungen der Chromosomen CS 12 Genetische Analyse biologischer Prozesse CS 13 Transposons bei Eukaryonten CS 14 Regulation der Genexpression KS 15 Regulation der Zellzahl - Onkogene CS Gene mutations: their causes and repair mechanisms Genetics 10 Based on Chapter 17 (Griffiths; 10th ed.) Summary 10 Spontaneous and induced mutations Point mutations synonymous missense: conservative, nonconservative nonsense (STOP) Indels (insertion, deletion, frameshift) Mutagens and carcinogens Ames Test DNA Repair photolyases nucleotide excision repair global genomic repair transcription coupled nucleotideexcision repair etc. Point mutations and cancer Natural carcinogens - aflatoxins Aspergillus fumigatus Quantitating mutagenicity and carcinogenicity Ames test Ames test - classifying the mechanisms TA100 - sensitive to reversion through base pair substitution TA1535 and TA sensitive to reversions through frame shift mutation Biological repair mechanisms Photolyases repair UV-induced photodimers Homology-dependent repair - base excision repair apurinic/apyrimidinic endonuclease deoxyribophosphodiesterase Homology-dependent repair - GGR and NER Homology-dependent repair - GGR and NER Xeroderma pigmentosum - Mutants in TFIIH Mutations and cancer Mutations can induce cancer The ras oncogene Summary 10 Spontaneous and induced mutations Point mutations synonymous missense: conservative, nonconservative nonsense (STOP) Indels (insertion, deletion, frameshift) Mutagens and carcinogens Ames Test DNA Repair photolyases nucleotide excision repair global genomic repair transcription coupled nucleotideexcision repair etc. Point mutations and cancer What you need to know and understand for the exam and for your life......point mutations... indels... types of spontaneous mutations... examples for induced mutations... repair mechanisms... Ames test Chromosome mutations Genetics 12 Based on Chapter 16 (Griffiths; 9th ed.); Chapter 7 (10th ed.) Euploidy and Polyploidy Aneuploidy and Gene Balance Changes in Chromosome Structure Chromosomal Mutations and Disease Types of chromosome mutations Euploidy and Polyploidy Chromosome constitutions monoploid vs. haploid male bees, wasps, and ants are examples of monoploids monoploids are sterile (no m e i o s i s p o s s i b l e a n d propagation via mitotic gametes) Euploids have multiples of the basic wild type chromosome set Aneuploids differ from the wild type by part of a chromosome set Higher ploidy induces e.g. larger cell size Diploid vs. tetraploid grapes Stomata size in the epidermis of a plant leaf Colchicine, a (chemical) trick to induce autopolyploidy Chromosome pairing in an autotetraploid Meiotic pairing in triploids This happens for each chromosome so that the resulting gametes will certainly have intermediate (aneuploid) chromosome numbers - high chance of infertility or complete sterility Origin of the allodiploid Raphanobrassica Origin of the varieties of Brassica oleracea Origin of the three allopolyploid species of Brassica Proposed origin of bread wheat by ancestral allodiploidy Monoploid plants from tissue culture Polyploidization is a driving force in evolution Aneuploidy and Gene Balance Changes in chromosome number monoploid vs. haploid male bees, wasps, and ants are examples of monploids monoploids are sterile (no meiosis possible and propagate via mitotic gametes) Euploids have multiples of the basic wild type chromosome set Aneuploids differ from the wild type by part of a chromosome set Meiotic nondisjunction generates aneuploid products Characteristics of Turner syndrome (X0) about 1:5000 of female births Karyotype Characteristics of Klinefelter Syndrome (XXY) about 1:1000 of births Karyotype Characteristics of Down syndrome (Trisomy 21) about 1.5:1000 of births Karyotype Down syndrome and maternal age Types of chromosome mutations Changes in Chromosome Structure - Deletions - Origins of chromosomal rearrangements Non-allelic homologous recombination (NHAR) Gene dosage and balance Balanced vs. unbalanced rearrangements Unbalanced arrangements alter the gene ratio/dosage Deletion loops in Drosophila Mapping mutant alleles by pseudo-dominance Deletion and the Cri-du-chat Syndrome about 1:50,000 of births Changes in Chromosome Structure - Duplications - Origins of chromosomal rearrangements Non-allelic homologous recombination (NHAR) Map of segmental duplications in the human genome tandem duplications vs. insertional duplications Duplications by ancestral polypoloidy in the Saccharomyces genome Changes in Chromosome Structure - Inversions - Origins of chromosomal rearrangements Non-allelic homologous recombination (NHAR) Structural changes in the DNA by inversions Inversion loops at meiosis Paracentric deletions can lead to deletion products Pericentric inversions can lead to duplicationand-deletion products The two main chromosome-segregation patterns in a reciprocal-translocation heterozygote Down Syndrome in the progeny of a translocation heterozygote Chromosomal mutations and disease Mutations can induce cancer Somatic translocations and cancer Somatic translocations and cancer Fates of a million implanted zygotes What you need to know and understand for the exam and for your life......monoploidy, diploidy, etc.... autotetraploidy vs. autotriploidy... alloploidy (origin of wheat)... meiotic nondysjunction and consequences... Turner, Klinefelter, Down Syndromes... deletion, inversion, translocation The end
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