Einführung in die Genetik
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- Amberly Lynch
- 5 years ago
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1 Einführung in die Genetik Prof. Dr. Kay Schneitz (EBio Pflanzen) #genetiktum FB: Plant Development TUM Prof. Dr. Claus Schwechheimer (PlaSysBiol)
2 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 Regulation der Genexpression KS 12 Genetische Analyse biologischer Prozesse CS 13 Transposons bei Eukaryonten CS 14 Veränderungen der Chromosomen CS 15 Regulation der Zellzahl - Onkogene CS
3 Mapping and characterization of entire genomes Genetics 09 Based on Chapter 15 (Griffiths; 10th ed.)
4 Summary Genome sequencing Large insert vectors YAC kb BAC kb Phage lambda kb Small insert vectors Plasmids (pbr322, puc18/19) < kb Insert size for sequencing bp Minimal tiling path Paired-end reads Genome sizes Chromosomes and chromosome numbers Exons and introns Synteny Bioinformatics (conserved sequences, exon/intron precictions, cdnas, ESTs, open reading frames)
5 Structure of a eukaryotic gene Elements and sites be recognized by more or less conserved DNA sequence elements, can therefore be predicted by bioinformatics Exon/intron structure particularly important because it allows to predict the sequence of a protein
6 Making gene predictions based on genome sequence
7 How does the availability of genome sequences affect biological analyses?
8 Functional studies - Gene knock outs
9 Functional studies - Gene targeting
10 Functional studies - Gene targeting
11 Functional studies - Insertion mutagenesis
12 Transcriptomics and gene expression profiling Microarrays Heat map
13 Summary Next generation sequencing 1000 genomes project sequencing without cloning and ordering massive parallel sequencing Functional genomics (examples) Gene knock-outs (mammals, yeasts etc.) Gene targeting (mammals) Random insertion mutagenesis (T-DNA, plants) Transcriptomics (Microarrays, gene chips)
14 Gene mutations: their causes and repair mechanisms Genetics 10 Based on Chapter 17 (Griffiths; 10th ed.)
15 Types of gene mutations Spontaneous mutations Induced mutations Quantitating mutagenicity and cancerogenicity Biological repair mechanisms Mutations and cancer
16 Types of gene mutations
17 Structure of a eukaryotic gene
18 Gene mutations - point mutations Transition G:C -> A:T A:T -> G:C C:G -> T:A T:A -> C:G Transversion G:C -> T:A G:C -> C:G T:A -> A:T T:A -> G:C etc.
19 Gene mutations - insertions and deletions (Indels)
20 Indel mutations and replication slippage
21 Mutations can affect splicing
22 Effects of point mutations on transcript and protein
23 Spontaneous mutations
24 Luria-Delbrück s fluctuation test - mutations normally occur spontaneously and randomly
25 Sequencing spontaneous mutations with Next Generation Sequencing
26 Indel mutations and replication slippage
27 Mechanisms of spontaneous mutations
28 Mechanisms of spontaneous mutationsrare tautomeric form can induce mismatch pairings C* -> A T* -> G C -> A* T -> G*
29 Manifestation of a mismatch
30 Spontaneous lesions - depurination
31 G:C -> A:T Spontaneous lesions - deamination
32 Sequencing spontaneous mutations with Next Generation Sequencing
33 Spontaneous lesions - oxidative damage blocks replication G:C -> T:A
34 Trinucleotide repeat mutations in humans: e.g. the FMR-1 gene in Fragile X syndrome
35 Slipped mispairing explains the expansion of trinucleotide repeats
36 Trinucleotide repeat diseases
37 Induced mutations
38 Base analogs (5-BU) 5-Bromouracil (5-BU) 5-BU:A -> C:G
39 Base analogs (2-AP) 2-Aminopurine (2-AP) 2-AP (A):T -> G:C
40 Alkylating agents O C 2 H 5 O S CH 3 O Ethyl methanesulfonate
41 Intercalating agents
42 UV-light induced photoproducts
43 Natural carcinogens - aflatoxins Aspergillus fumigatus
44 Quantitating mutagenicity and carcinogenicity
45 Ames test
46 Ames test - classifying the mechanisms TA100 - sensitive to reversion through base pair substitution TA1535 and TA sensitive to reversions through frame shift mutation
47 Biological repair mechanisms
48 Photolyases repair UV-induced photodimers
49 Homology-dependent repair - base excision repair apurinic/apyrimidinic endonuclease deoxyribophosphodiesterase
50 Homology-dependent repair - GGR and NER
51 Homology-dependent repair - GGR and NER
52 Xeroderma pigmentosum - Mutants in TFIIH
53 Mutations and cancer
54 Mutations can induce cancer
55 The ras oncogene
56 What you need to know and understand for the exam and for your life indels... types of spontaneous mutations... examples for induced mutations... repair mechanisms... Ames test
57 The end