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Lernmaterialien für AMG II an der Universität Wien

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What is epigenetics?

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Epigenetics is the transmission of chromatin modifications such as DNA-methylation or modification of nucleosomes and histones. These modifications can be influenced by the environment and can be meta-stably transmitted. That means it can be handed down from one cell to the next, but they are usually much less stable than actual genetic modifications. When cells come to the germline most of these epigenetic modifications will be erased, so only a small part of these modification make it for transgenerational inheritance. It has a big role in tissue identity  inside a person but not much in transgenerational inheritance.

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Why was Mendel’s experiment good, well chosen?

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  • He chose plants with constant differentiating characters (Sortenreinheit)
  • Different varieties of the plants must be protected from foreign pollen during the flowering period (= he didn’t leave it to chance)
  • The plants should not suffer any marked disturbance in their fertility in the successive generations
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What did Mendel do right?

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  1. Use of pure bred strains, used healthy plants to avoid viability issues and chose only traits with very simple yes or no answers
  2. In this way he avoided intuitively polygenic traits 
  3. He used controlled pollination
  4. He did his statistic rigorously 
  5. None of the genes he characterized were coupled  
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Key mechanisms of synthetic theory of evolution?

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Darwin- Wallace

  1. Undirected change of the heritable information (random mutations) and its
  2. Quantitative evaluation by the necessities (selection according to fitness) 

Mutations are unrelated to the impact on fitness.

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Law of segregation?

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  1. Law of segregation: In the second generation Mendel noticed that some traits show themselves in a 1:3 ratio. In F2 the original characters (phenotypes) of the parents reappear unchanged but not to 1:1 but a 1:3 ratio for dominant: recessive. In some exceptional intermediary alleles reappear in 1:2:1. 1: each parent 2: intermediate state between the two 


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Law of independence?

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  1. Law of independence: Mendel tried to cross separate traits like round and green with wrinkled and yellow. Inheritance of a particular R or r allele is independent of inheritance of a particular Y or y allele. This is only true for most genes that are genetically unlinked. For linked genes not.


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How can it deducted that these plants are diploid?

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1. Intermediary alleles: if both of the properties from both parent are present to some content in the offspring, it must carry both alleles. 

2. F1 -> F2 generation change: the property that seems to get lost in F1, will be again found in F2, so it must have been there all along, only silenced.

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Exceptions to Uniformity of F1

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genomic imprinting. Most genes are equally expressed in paternal and maternal allele. But in some genes, expression levels can have a paternal bias. Genomic imprinting is a form of epigenetic inheritance. It is associated with the DNA methylation (5-methyl-Cytosine). In germ cells differences in chromatin between paternal and maternal alleles are typically erased and sex-specific marks are established. Human diseases where genomic imprinting is at fault: 9, eg. Prader-Willie syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome

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Exception to Law of Independence

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Genetic linkage. It occurs when genes are close to each other on the same chromosome, separated by less than 50 centiMorgan. 50 centiMorgan corresponds to a meiotic recombination probability of 50%. Meiotic Crossovers separate allele combinations, which otherwise would always be inherited together.

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Mendels rules? Uniformity?

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  1. Uniformity of F1: If both parents are purebred, the first generation of the offspring will have the characteristics from one parent or the other. With pure bred (homozygous) parents the F1 generation has a uniform phenotype. Interpretation: AA x aa -> Aa The phenotype depends on the allele properties: dominant, recessive or intermediary. 


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Gene, functional?

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The functional unit in the genome, that requires transcription to work.


Functional: “makes a difference” ( there is at least one situation, where it contributes to a phenotype. )



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Phenotype? Conditional mutations? Synthetic phenotype?

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  1. Phenotype: a detectable feature in at least one situation. Every phenotype is inseparably linked to the ASSAY conditions, under which it can be detected.
  2. Conditional mutations: eg. Thermo-sensitivity – phenotype only shows at restrictive temp.
  3. Synthetic phenotype: Phenotype only shows in the presence of a second mutation OR resistance (lack of) phenotype only shows under challenge by pathogen or by antibiotic
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Q:

What is epigenetics?

A:

Epigenetics is the transmission of chromatin modifications such as DNA-methylation or modification of nucleosomes and histones. These modifications can be influenced by the environment and can be meta-stably transmitted. That means it can be handed down from one cell to the next, but they are usually much less stable than actual genetic modifications. When cells come to the germline most of these epigenetic modifications will be erased, so only a small part of these modification make it for transgenerational inheritance. It has a big role in tissue identity  inside a person but not much in transgenerational inheritance.

Q:

Why was Mendel’s experiment good, well chosen?

A:
  • He chose plants with constant differentiating characters (Sortenreinheit)
  • Different varieties of the plants must be protected from foreign pollen during the flowering period (= he didn’t leave it to chance)
  • The plants should not suffer any marked disturbance in their fertility in the successive generations
Q:

What did Mendel do right?

A:
  1. Use of pure bred strains, used healthy plants to avoid viability issues and chose only traits with very simple yes or no answers
  2. In this way he avoided intuitively polygenic traits 
  3. He used controlled pollination
  4. He did his statistic rigorously 
  5. None of the genes he characterized were coupled  
Q:

Key mechanisms of synthetic theory of evolution?

A:

Darwin- Wallace

  1. Undirected change of the heritable information (random mutations) and its
  2. Quantitative evaluation by the necessities (selection according to fitness) 

Mutations are unrelated to the impact on fitness.

Q:

Law of segregation?

A:


  1. Law of segregation: In the second generation Mendel noticed that some traits show themselves in a 1:3 ratio. In F2 the original characters (phenotypes) of the parents reappear unchanged but not to 1:1 but a 1:3 ratio for dominant: recessive. In some exceptional intermediary alleles reappear in 1:2:1. 1: each parent 2: intermediate state between the two 


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Q:

Law of independence?

A:


  1. Law of independence: Mendel tried to cross separate traits like round and green with wrinkled and yellow. Inheritance of a particular R or r allele is independent of inheritance of a particular Y or y allele. This is only true for most genes that are genetically unlinked. For linked genes not.


Q:

How can it deducted that these plants are diploid?

A:

1. Intermediary alleles: if both of the properties from both parent are present to some content in the offspring, it must carry both alleles. 

2. F1 -> F2 generation change: the property that seems to get lost in F1, will be again found in F2, so it must have been there all along, only silenced.

Q:

Exceptions to Uniformity of F1

A:

genomic imprinting. Most genes are equally expressed in paternal and maternal allele. But in some genes, expression levels can have a paternal bias. Genomic imprinting is a form of epigenetic inheritance. It is associated with the DNA methylation (5-methyl-Cytosine). In germ cells differences in chromatin between paternal and maternal alleles are typically erased and sex-specific marks are established. Human diseases where genomic imprinting is at fault: 9, eg. Prader-Willie syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome

Q:

Exception to Law of Independence

A:

Genetic linkage. It occurs when genes are close to each other on the same chromosome, separated by less than 50 centiMorgan. 50 centiMorgan corresponds to a meiotic recombination probability of 50%. Meiotic Crossovers separate allele combinations, which otherwise would always be inherited together.

Q:

Mendels rules? Uniformity?

A:


  1. Uniformity of F1: If both parents are purebred, the first generation of the offspring will have the characteristics from one parent or the other. With pure bred (homozygous) parents the F1 generation has a uniform phenotype. Interpretation: AA x aa -> Aa The phenotype depends on the allele properties: dominant, recessive or intermediary. 


Q:

Gene, functional?

A:

The functional unit in the genome, that requires transcription to work.


Functional: “makes a difference” ( there is at least one situation, where it contributes to a phenotype. )



Q:

Phenotype? Conditional mutations? Synthetic phenotype?

A:
  1. Phenotype: a detectable feature in at least one situation. Every phenotype is inseparably linked to the ASSAY conditions, under which it can be detected.
  2. Conditional mutations: eg. Thermo-sensitivity – phenotype only shows at restrictive temp.
  3. Synthetic phenotype: Phenotype only shows in the presence of a second mutation OR resistance (lack of) phenotype only shows under challenge by pathogen or by antibiotic
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