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Lernmaterialien für General Genetics an der University of Tromsø

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TESTE DEIN WISSEN

Give classes and subclasses of Retrotransposons.

  • Are they autonomous? 
  • How much of the human genome do they make up? 
  • How long are they? 
  • Where are they located?
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TESTE DEIN WISSEN

NON-LTR TRANSPOSONS

LINEs: Long Interspersed Nuclear Elements

  • LINE-1,2,3, LINE-1 have autonomously transposing members
  • 21%
  • Full-length >6000bp
  • Euchromatic (AT-rich) regions

SINEs: Short Interspersed Nuclear Elements

  • Subgroups among others: primate-specific ALU-repeats + MIR-elements
  • Nonautonomous: dependent on LINEs
  • 13%
  • Full length <400bp
  • GC-rich areas

LTR-TRANSPOSONS/Retrovirus-like elements

  • autonomous (have rt and/or integrase)
  • 8%
  • 2 Subclasses: HERVs and LTR-elements
  • HERV: 6-11kb, LTR-element: 1.5-3kb
Lösung ausblenden
TESTE DEIN WISSEN
What is replication slippage? Where does it happen? What are the implications?
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TESTE DEIN WISSEN
  • Occurs in sequential repeats: eg. multiple tandem repeats
  • Error in alignment of growing- and template strand during DNA replication: one of the two might have a part ‘loop out’
  • May lead to tri-/di-nucleotide expansion or contraction: small insertion or deletion
Lösung ausblenden
TESTE DEIN WISSEN

What is the difference between Autonomous and non-autonomous transposons? How does that relate to the two main transposon classes?

Lösung anzeigen
TESTE DEIN WISSEN

Autonomous transposons code for proteins that enable them to transpose, Nonautonomous transposonsdepend on transposition-related proteins form autonomous elements.

Retrotransposons contain both types of transposons, while Human DNA transposons are truncated or have mutated transposase- gene -> no transposition

Lösung ausblenden
TESTE DEIN WISSEN

Explain three ways of categorizing genetic variation


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TESTE DEIN WISSEN

A. According to DNA content

  1. Changes that do not affect the DNA content
    1. Base pair substitution
    2. Multiple nucleotides relocated in the genome
  2. Changes in copy number of a nucleotide or DNA sequence
    1. Insertion and deletion:
    2. Abnormal chromosome segregation (Almost always harmful: spontaneous abortion, developmental syndromes)

B. According to scale of genetic variation (Arbitrary)

  1. Small-scale genetic variation (<50 bp)
  2. Moderate and large-scale genetic variation: Structural variation (>50 bp)

C. According to size of the changed sequence

  1. Chromosome mutations
  2. Regional or subchromosomal mutations
  3. Gene or DNA mutations
Lösung ausblenden
TESTE DEIN WISSEN
What are neutral mutations?
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TESTE DEIN WISSEN
Genetic variation thatv does not have an effect on the phenotype.
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TESTE DEIN WISSEN

Define: Human genome

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TESTE DEIN WISSEN

The collection of different DNA molecules. Comprises 2 physically separate genomes: Nuclear (chromosomal) DNA (23 linear DNA) and circular, mitochondrial DNA (37 genes).

Consists of 3.1 Gbp and the order of the base pairs provides instruction about RNA and Protein synthesis.


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TESTE DEIN WISSEN

Give 5 important outcomes of the HGP.

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TESTE DEIN WISSEN

• The number of protein coding genes was estimated
• Noncoding RNA genes were discovered
• huge variation between human genomes was found

  • Massive datasets were made available and sequencing methods were developed
  • 4 other organisms


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TESTE DEIN WISSEN

What are characteristics of centromeric DNA?

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  • Centromeric DNA is not conserved during evolution and the DNA sequence is very different in different species
  • Modified histones for forming constitutive heterochromatin
  • Various satellite DNA families in the centromeres
  • Only α-satellite DNA present in all human centrom
Lösung ausblenden
TESTE DEIN WISSEN

Moderate and large-scale genetic variation:

Lösung anzeigen
TESTE DEIN WISSEN

Structural variation (>50 bp)

• Can involve very large changes
• Balanced or unbalanced changes
• Happens infrequently, but are highly significant changes

Lösung ausblenden
TESTE DEIN WISSEN

Explain the function and importance of telomeric DNA by explaining, what would happen without them.

Lösung anzeigen
TESTE DEIN WISSEN

Maintain structural integrity and
stability of chromosomes

• Unstable ends tends to fuse with the end of other chromosomes
• The ends can be involved in recombination events (how -> medical genetics!)
• The ends can be degraded by nucleases (Why?)

Lösung ausblenden
TESTE DEIN WISSEN

What is a Transposon?

Lösung anzeigen
TESTE DEIN WISSEN

A DNA sequence able to insert itself, or a
copy of itself, at a new location in the
genome without having any sequence
relationship with the target locus.

They're also called 'jumping genes', transposable elements or mobile genetic elements.

There are 2 main classes (Retrotransposons and DNA Transposons) based on the mode of transposition.

Lösung ausblenden
TESTE DEIN WISSEN

Are transposons active?

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TESTE DEIN WISSEN

No, most of them are silent. Inactivated by mutations or by epigenetic defense mechanisms. Small fraction still active: about 60-100 L1 elements.

Lösung ausblenden
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Q:

Give classes and subclasses of Retrotransposons.

  • Are they autonomous? 
  • How much of the human genome do they make up? 
  • How long are they? 
  • Where are they located?
A:

NON-LTR TRANSPOSONS

LINEs: Long Interspersed Nuclear Elements

  • LINE-1,2,3, LINE-1 have autonomously transposing members
  • 21%
  • Full-length >6000bp
  • Euchromatic (AT-rich) regions

SINEs: Short Interspersed Nuclear Elements

  • Subgroups among others: primate-specific ALU-repeats + MIR-elements
  • Nonautonomous: dependent on LINEs
  • 13%
  • Full length <400bp
  • GC-rich areas

LTR-TRANSPOSONS/Retrovirus-like elements

  • autonomous (have rt and/or integrase)
  • 8%
  • 2 Subclasses: HERVs and LTR-elements
  • HERV: 6-11kb, LTR-element: 1.5-3kb
Q:
What is replication slippage? Where does it happen? What are the implications?
A:
  • Occurs in sequential repeats: eg. multiple tandem repeats
  • Error in alignment of growing- and template strand during DNA replication: one of the two might have a part ‘loop out’
  • May lead to tri-/di-nucleotide expansion or contraction: small insertion or deletion
Q:

What is the difference between Autonomous and non-autonomous transposons? How does that relate to the two main transposon classes?

A:

Autonomous transposons code for proteins that enable them to transpose, Nonautonomous transposonsdepend on transposition-related proteins form autonomous elements.

Retrotransposons contain both types of transposons, while Human DNA transposons are truncated or have mutated transposase- gene -> no transposition

Q:

Explain three ways of categorizing genetic variation


A:

A. According to DNA content

  1. Changes that do not affect the DNA content
    1. Base pair substitution
    2. Multiple nucleotides relocated in the genome
  2. Changes in copy number of a nucleotide or DNA sequence
    1. Insertion and deletion:
    2. Abnormal chromosome segregation (Almost always harmful: spontaneous abortion, developmental syndromes)

B. According to scale of genetic variation (Arbitrary)

  1. Small-scale genetic variation (<50 bp)
  2. Moderate and large-scale genetic variation: Structural variation (>50 bp)

C. According to size of the changed sequence

  1. Chromosome mutations
  2. Regional or subchromosomal mutations
  3. Gene or DNA mutations
Q:
What are neutral mutations?
A:
Genetic variation thatv does not have an effect on the phenotype.
Mehr Karteikarten anzeigen
Q:

Define: Human genome

A:

The collection of different DNA molecules. Comprises 2 physically separate genomes: Nuclear (chromosomal) DNA (23 linear DNA) and circular, mitochondrial DNA (37 genes).

Consists of 3.1 Gbp and the order of the base pairs provides instruction about RNA and Protein synthesis.


Q:

Give 5 important outcomes of the HGP.

A:

• The number of protein coding genes was estimated
• Noncoding RNA genes were discovered
• huge variation between human genomes was found

  • Massive datasets were made available and sequencing methods were developed
  • 4 other organisms


Q:

What are characteristics of centromeric DNA?

A:
  • Centromeric DNA is not conserved during evolution and the DNA sequence is very different in different species
  • Modified histones for forming constitutive heterochromatin
  • Various satellite DNA families in the centromeres
  • Only α-satellite DNA present in all human centrom
Q:

Moderate and large-scale genetic variation:

A:

Structural variation (>50 bp)

• Can involve very large changes
• Balanced or unbalanced changes
• Happens infrequently, but are highly significant changes

Q:

Explain the function and importance of telomeric DNA by explaining, what would happen without them.

A:

Maintain structural integrity and
stability of chromosomes

• Unstable ends tends to fuse with the end of other chromosomes
• The ends can be involved in recombination events (how -> medical genetics!)
• The ends can be degraded by nucleases (Why?)

Q:

What is a Transposon?

A:

A DNA sequence able to insert itself, or a
copy of itself, at a new location in the
genome without having any sequence
relationship with the target locus.

They're also called 'jumping genes', transposable elements or mobile genetic elements.

There are 2 main classes (Retrotransposons and DNA Transposons) based on the mode of transposition.

Q:

Are transposons active?

A:

No, most of them are silent. Inactivated by mutations or by epigenetic defense mechanisms. Small fraction still active: about 60-100 L1 elements.

General Genetics

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