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
 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
2
 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
3
 Chromosome mutations
Genetics 11

Based on Chapter 16 (Griffiths; 9th ed.); Chapter 7 (10th ed.)

Types of chromosome mutations
 Euploidy and Polyploidy

Aneuploidy and Gene Balance

Changes in Chromosome Structure

Chromosomal Mutations and Disease

Euploidy and Polyploidy
 Chromosome constitutions

monoploid vs. haploid

male bees, wasps, and ants

are examples of monoploids

monoploids are sterile (no

meiosis possible and
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)

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
 Gene dosage and balance

Balanced vs. unbalanced

rearrangements

Unbalanced arrangements alter

the gene ratio/dosage
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 duplication-
and-deletion products
Origins of chromosomal rearrangements

Non-allelic homologous recombination (NHAR)

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