Task 1 Flashcards

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1
Q

Define “Phenotype”

A

The observable characteristic determined by our genotype.

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2
Q

What is the basic chain of events, how the DNA affects our phenotype?

A

DNA -> mRNA -> Amino Acids -> Proteins -> Phenotype

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3
Q

What is the technical term for when a phenotypic characteristic is controlled by multiple genes?

A

Poly-genetic characteristics

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4
Q

Finding out about the specific function of a single gene can be done using two main study designs.

A

Linkage Studies:

  • > Examine large families, in which members differ in a certain phenotype
  • > Study genotype of the family members for alleles that correlate with certain variations in the phenotype

Association Studies:

  • > Take a test group with a certain phenotype and one without it
  • > Test for genome differences
  • > Requires many genetic markers
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5
Q

What is the main content and result of the prairie voles study?

A
  • PV’s form long term bonds after mating. This is triggered by the protein Arginine Vasopressin. Genes that code for this protein have different coding sequences in PV’s.
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6
Q

Why do we need to account for the environment, even when looking at the effects of genes?

A

External influences can change the way or frequency of how a gene gets expressed.
This can also happen prenatally, especially in the first trimester of pregnancy.
- Inheritance of phenotypes can also be a product of social learning and not inheritance.
- Quality of maternal care effects the methylation of genes, which can decrease gene expression

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7
Q

What does the central dogma of molecular genetics say?

A

Change happens from genome over RNA, amino acids, proteins, to phenotype and only in this direction.

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8
Q

What are alleles?

A

Different variations of a gene; Locus on DNA that codes for sth specific.

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9
Q

What is the difference between Mitosis and Meiosis?

A

Mitosis:
- cell division whereby cells split into genetically identical copies
- making more phenotype
- somatic cells do this
Meiosis:
- Cell division, whereby a haploid gamete/ germ cell is produced
- making more phenotype and genotype
- present only in sperm/egg cells in humans

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10
Q

Describe the structure of DNA

A
  • wound around proteins called histones
  • Double Helix
  • backbone made out of sugars & phosphates
  • > Strong bond
  • Four nucleic bases attached between the helixes
  • the bases are connected in pairs and have weak hydrogen bonds
  • Bases are paired: A-T, C-G
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11
Q

What are the four nucleic bases and their classes?

A

A - Adenine - Purin (bigger)
T - Thymine - Pyramidin (smaller)
G - Guanine - Purin (bigger)
C - Cytosine - Pyramidin (smaller)

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12
Q

Describe which areas of our genome are coding vs non-coding

A
  • A small amount of our genome is coding for something
  • within genes, we have introns (non-coding) and exons (coding)
  • > ~1% is actually coding
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13
Q

What happens with introns?

A

Introns are transcribed but not translated. Splicing cuts them away before this.

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14
Q

What does DNA Polymerase do?

A
  • The molecule that goes along the strands of DNA after separation and reads the DNA and then builds the mRNA from it.
  • reads from 3’ -> 5’; builds from 5’ -> 3’ in the leading strand
  • As the lagging strand is the other way around, DNA Polymerase has to translate a segment of the DNA (against coding direction) and then start further down the strand again. -> Okazaki Segments
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15
Q

Where is DNA located?

A

In our cell nucleuses

- We also have DNA in the mitochondria of our cells

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16
Q

How is a germ cell made up when it comes to chromosomes?

A

It only receives 23 single chromosomes of the 46 paired ones in our stem cells. The distribution is a product of chance.

17
Q

Describe the process of transcription

A

It is the process of transforming DNA into RNA

  • Initiation
  • DNA strands are unzipped by Helicase into a leading and lagging strand
  • DNA Polymerase forms along the strands and pairs by the base pairing principle
  • > in the language of RNA, T is replaced by U (Uracil)
  • > Always happens in 5’ - 3’ direction
  • RNA detaches from DNA which is closed again
18
Q

Describe the process of translation

A

It is the process whereby RNA is used to code strands of amino acids

  • RNA is transported outside the nucleus and into ribosomes (“factories”, where amino acids are available)
  • tRNA (fork-like thingys) bring the amino acids and connect them to the fitting base triplet (codon) like a puzzle
19
Q

What is the principle or redundancy?

A

That multiple codons can stand for the same amino acid (64 codons, 20 amino acids) -> Think of circle diagram in lecture

20
Q

Describe all the types of mutations.

A

Frame shift mutations (with shift of sth else than a multiple of 3)
- Insertion
- Deletion
Polymorphism/Substitution/Point-mutation
- Transition
-> Changes between chemically similar bases (C,T & G,A)
- Transversion
-> Changes between chemically dissimilar bases
Simple sequence repeats/slippage
- > extra copy of gene sequence (motif) is added or lost

21
Q

Why do most mutations have no phenotypic effect?

A
  • most of it happens in non-coding DNA

- Redundancy of genetic code: mutation may not result in a difference in amino acid order.

22
Q

Describe the genetics of Huntington’s disease.

A

Simple sequence repeat of the motif “CAG” resulting in more glutamines in a row.

  • more than 40 -> Huntington’s
  • 25 - 40 higher likelihood of Huntington’s
23
Q

What is the effect of Methyl on gene expression?

A

When methyl groups bind to a gene in a process of methylation, this decreases gene expression. This can happen on the DNA as well as the Histone level.

24
Q

What is the difference between Methylation and Acetylation?

A
  • Acetylation: Increases gene expression, only at histone level
  • Methylation: Decreases it
25
Q

What is the basic message in the Miller article about behavioral epigenetics?

A

The type of mother, which a young rat receives, determines how its brain will react to stress in the future.
-> Epigenetics can explain, how early life experiences leave a mark on the brain.

26
Q

What is an analogy for comparing epigenetics with the genome? (Powledge article)

A

Genome = Hardware; Epigenetics = Software

27
Q

What is Epigenetics?

A

“Above Genetics”

  • Environmental influences, that determine which and to what extend genes get expressed.
  • > Doesn’t imply breaking the rule of the central dogma