Einführung in die Genetik

Prof. Dr. Kay Schneitz (EBio Pflanzen)

http://plantdev.wzw.tum.de
kay.schneitz@tum.de
Twitter: @PlantDevTUM, #genetikTUM

Prof. Dr. Claus Schwechheimer (PlaSysBiol)

http://wzw.tum.de/sysbiol
claus.schwechheimer@wzw.tum.de

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 Genetik - Bio/Ernährung (ZoomQA um 09:15 Uhr)
1 Einführung 20. 04. 20 KS
2 Struktur der DNA und Chromosome 27. 04. 20 KS
3 Transkription/Translation 04. 05. 20 KS
4 Transmission der DNA während der Zellteilung 11. 05. 20 KS
5 Vererbung von Einzelgenveränderungen 18. 05. 20 KS
6 Genetische Rekombination (Eukaryonten) 25. 05. 20 KS
7 Regulation der Genexpression 08. 06. 20 KS
8 Rekombinante DNA-Technologie 15. 06. 20 CS
9 Kartierung/Charakterisierung ganzer Genome 22. 06. 20 CS
10 Genmutationen: Ursache und Reparatur 29. 06. 20 CS
11 Veränderungen der Chromosomen 06. 07. 20 CS
12 Genetische Analyse biologischer Prozesse 13. 07. 20 CS
13 Transposons bei Eukaryonten 20. 07. 20 CS
14 Regulation der Zellzahl - Onkogene (Klausur) 27. 07. 20 CS
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 Genetik - MBT/BC (Zoom QA um 10:30 Uhr)
1 Einführung 20. 04. 20 KS
2 Struktur der DNA und Chromosome 27. 04. 20 KS
3 Transkription/Translation 04. 05. 20 KS
4 Transmission der DNA während der Zellteilung 11. 05. 20 KS
5 Vererbung von Einzelgenveränderungen 18. 05. 20 KS
6 Genetische Rekombination (Eukaryonten) 25. 05. 20 KS
Gen. Rekombination (Bakterien/Viren)/
7/8 08. 06. 20 KS
Regulation der Genexpression
9 Rekombinante DNA-Technologie 15. 06. 20 CS
10 Kartierung/Charakterisierung ganzer Genome 22. 06. 20 CS
11 Genmutationen: Ursache und Reparatur 29. 06. 20 CS
12 Veränderungen der Chromosomen 06. 07. 20 CS
13 Genetische Analyse biologischer Prozesse 13. 07. 20 CS
14 Transposons bei Eukaryonten 20. 07. 20 CS
15 Regulation der Zellzahl - Onkogene 27. 07. 20 CS
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 Gene mutations: their causes
and repair mechanisms
Genetics 11

Based on Chapter 17 (Griffiths; 10th4 ed.)

 Types of gene mutations

Spontaneous mutations

Induced mutations

Quantitating mutagenicity and cancerogenicity

Biological repair mechanisms

Mutations and cancer

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Types of gene mutations

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Structure of a eukaryotic gene

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Gene mutations - point mutations (SNPs)

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.
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Gene mutations - insertions and deletions (InDels)

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Mutations can affect splicing

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Effects of point mutations on
transcript and protein

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Spontaneous mutations

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 Luria-Delbrück’s fluctuation test -
mutations normally occur spontaneously and randomly

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Mechanisms of spontaneous mutations

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 Mechanisms of spontaneous mutations-
rare tautomeric form can induce mismatch pairings

C* -> A T* -> G

C -> A* T -> G*

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Manifestation of a mismatch

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Spontaneous lesions - depurination

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 Spontaneous lesions - deamination

G:C -> A:T

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Sequencing spontaneous mutations with
Next Generation Sequencing

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Spontaneous lesions - oxidative damage

blocks replication G:C -> T:A

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Indel mutations and replication slippage

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Slipped mispairing explains the expansion of
trinucleotide repeats

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Trinucleotide repeat mutations in humans:
e.g. the FMR-1 gene in Fragile X syndrome

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Trinucleotide repeat diseases

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Induced mutations

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Base analogs (5-BU)

5-Bromouracil (5-BU)
5-BU:A26-> C:G
Base analogs (2-AP)

2-Aminopurine (2-AP)
2-AP (A):T -> G:C
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 Alkylating agents

O
C2H5 O S CH3
O

Ethyl methanesulfonate

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Intercalating agents

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UV-light induced photoproducts

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“Natural” carcinogens - aflatoxins

Aspergillus flavus

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Quantitating mutagenicity and
carcinogenicity

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Ames test

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Genetic reversion/gene mutation reversion

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Ames test - classifying the mechanisms
TA100 - sensitive to
reversion through base pair
substitution

TA1535 and TA1538 -

sensitive to reversions
through frame shift
mutation

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Biological repair mechanisms

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Photolyases repair UV-induced photodimers

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Homology-dependent repair - base excision repair

apurinic/apyrimidinic endonuclease

deoxyribophosphodiesterase

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Homology-dependent repair - GGR and NER

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Homology-dependent repair - GGR and NER

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Xeroderma pigmentosum - Mutants in TFIIH

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Mutations and cancer

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Mutations can induce cancer

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The ras oncogene

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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

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The end

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