General Genetics an der University Of Tromsø | Karteikarten & Zusammenfassungen

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Give 5 important outcomes of the HGP.

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• 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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What is a Transposon?

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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.

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TESTE DEIN WISSEN

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

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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

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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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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
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TESTE DEIN WISSEN

Explain, why transposons are seldomly identical copies of each other.

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TESTE DEIN WISSEN

The transcription of transposons often fails
• Reverse transcriptase stops before 5’end: truncated transposons
• RNA-polymerase proceed the 5’ end: the mRNA can contain neighboring gene or exon
• Or the reverse transcriptase can transcribe other mRNA: pseudogene or retrogen

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What are Tandemly repeated sequences?

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Tandemly repeated short DNA sequences

  • located in constitutive heterochromatin: Centromeres, Telomeres, large additional regions on some chromosomes, STR/VNTR
  • 10% of the human genome
  • some also located in euchromatin regions (forensic)
  • non-coding DNA
  • can be subdivided into satellite, mini satellite and microsatellite DNA
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TESTE DEIN WISSEN

Compare subtypes of tandemly repeated DNA sequences

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TESTE DEIN WISSEN

Subclassification according to size of arrays:

• Satellite DNA: >100kb*
• Minisatellite DNA: 0.1-20 kb*
• Microsatellite DNA: <100 bp (or 4-500bp*)

Arbitrary definition, dependent on literature

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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
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TESTE DEIN WISSEN

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

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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?)

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TESTE DEIN WISSEN

Two general ways in which genetic variation can occur


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TESTE DEIN WISSEN

• Inherited genetic variation, transmitted between generations in gametes
• Individual changes (novel mutations): germ-line cells and somatic cells

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TESTE DEIN WISSEN

What is the difference between DNA variants and DNA mutations (in newer developments)

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DNA variant: neutral term to describe a DNA change produced by mutation
DNA mutation: DNA changes associated with an altered phenotype

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Define: Human genome

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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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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 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:

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:

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:

Explain, why transposons are seldomly identical copies of each other.

A:

The transcription of transposons often fails
• Reverse transcriptase stops before 5’end: truncated transposons
• RNA-polymerase proceed the 5’ end: the mRNA can contain neighboring gene or exon
• Or the reverse transcriptase can transcribe other mRNA: pseudogene or retrogen

Mehr Karteikarten anzeigen
Q:

What are Tandemly repeated sequences?

A:

Tandemly repeated short DNA sequences

  • located in constitutive heterochromatin: Centromeres, Telomeres, large additional regions on some chromosomes, STR/VNTR
  • 10% of the human genome
  • some also located in euchromatin regions (forensic)
  • non-coding DNA
  • can be subdivided into satellite, mini satellite and microsatellite DNA
Q:

Compare subtypes of tandemly repeated DNA sequences

A:

Subclassification according to size of arrays:

• Satellite DNA: >100kb*
• Minisatellite DNA: 0.1-20 kb*
• Microsatellite DNA: <100 bp (or 4-500bp*)

Arbitrary definition, dependent on literature

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:

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:

Two general ways in which genetic variation can occur


A:

• Inherited genetic variation, transmitted between generations in gametes
• Individual changes (novel mutations): germ-line cells and somatic cells

Q:

What is the difference between DNA variants and DNA mutations (in newer developments)

A:

DNA variant: neutral term to describe a DNA change produced by mutation
DNA mutation: DNA changes associated with an altered phenotype

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.


General Genetics

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