Mitochondrial genetics Flashcards

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1
Q

What is the structure of mitochondrial DNA?

A

Circular DNA molecule.
Two complimentary strands
Relatively small.

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2
Q

What are the 2 complimentary strands in mitochondrial DNA?

A

Heavy and light

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3
Q

What is the heavy strand in mitochondrial DNA rich in?

A

Guanine

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4
Q

What is the light strand in mitochondrial DNA rich in?

A

Cytosine

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5
Q

What genes does the mitochondrial DNA carry/

A

13 protein-coding genes
2 ribosomal RNA
22 translational RNA
The D loop

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6
Q

What is the D loop?

A

A non-coding region within the mitochondrial DNA.

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7
Q

What is the function of the D loop?

A

Regulation of replication and transcription.

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8
Q

What is mitochondrial DNA packaged into?

A

Nucleoids.

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9
Q

How many molecules of mitochondrial DNA is in a nucleoid?

A

3-7

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10
Q

Other than mtDNA what is in the nucleoids?

A
  • DNA polymerase
  • DNA binding proteins
  • DNA helicase
  • Transcription factors
  • Chaperones
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11
Q

What are the genetic rules surrounding mtDNA?

A
  1. Polyploid Genome (more than one copy of mtDNA in each cell)
  2. Heteroplasmy
  3. Threshold effect
  4. Maternal inheritance
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12
Q

How many mitochondria does each cell contain?

A

Around 100.

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13
Q

What does polyploid mean?

A

There are multiple copies in each cell.

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14
Q

Why would mtDNA be important in ageing?

A

Really high mutation rate.

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15
Q

Why does mtDNA have a high rate of mutation?

A

Localised near the site of reactive oxygen species production.

A lack of protective histones

Limited repair mechanisms More frequent replication.

No introns (all mutations affect coding sequence).

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16
Q

What does homoplasmic mean?

A

A eukaryotic cell whose copies of mitochondrial DNA are all identical

17
Q

What does heteroplasmic mean?

A

A eukaryotic cell whose copies of mitochondrial DNA are not all identical

18
Q

How are cells with deleterious mtDNA mutations detected?

A

Cytochrome c Oxidase (COX) activity first then succinate
dehydrogenase (SDH)activity on the same tissue section.

If cox activity present brown if not blue.

19
Q

How is mtDNA inherited?

A

Strictly maternally inherited