Wk 11: DNA damage + repair (damage) Flashcards

1
Q

DNA damage is implicated in which diseases?

A
  • Parkinson’s, alzheimer
  • Diabetes
  • Atherosclerosis
  • Ageing
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2
Q

Which nucleotides are pyrimidine and which ones are purine?

A
  • Pyrimidine: cytosine, thymine + uracil
  • Purine: Adenine + guanine
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3
Q

What forms a phosphodiester bond?

A

Phosphate group of nucleotide joins w/ hydroxyl of adjacent nucleotide

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4
Q

What is deamination?

A

In aqueous sol 37oC, removes ammonia:

  • C -> U
  • A -> hypoxanthine
  • G -> xanthine
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5
Q

What is depurination?

A
  • Cleavage of glycosyl bond connecting purines to back bone
  • Backbone intact
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6
Q

What are depurinated sites called?

A

Abasic or AP

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7
Q

Give an example of a chemical agent that can alter specific bases within DNA

A

Reactive oxygen species (ROS)

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8
Q

Give an example of a reactive oxygen species (ROS) and what it can do to specific bases in DNA

A

Hydroxyl radical

  • Reacts w/ guanine to form 8-oxoguanine
  • 8-oxoguanine = mutagenic bc pairs w/ adenine not cysteine
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9
Q

What does replication stress give rise to?

A

Slowing/stalling of replication forks:

  • Gives rise to DNA single strand breaks
  • Single strand breaks give rise to DNA double strand breaks
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10
Q

What are the main groups of mutations?

A
  • Point mutation
  • Frameshift mutation
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11
Q

What is point mutations?

A

Single aa change: silent, missense + nonsense

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12
Q

What is frameshift mutations?

A

Insertion/deletion of bases: deletion, insertion, frameshift + non-frameshift

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13
Q

Define silent mutation

A

No affect on aa sequence

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14
Q

Define missense

A

New aa substitution

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15
Q

Define nonsense

A

Stop codon for aa (TAG)

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16
Q

Define deletion + insertion

A

Change in aa seq.

17
Q

Define frameshift

A

Multiple changes in aa

18
Q

Define non-frameshift

A

Insertion of single aa

19
Q

What is gene amplification?

A
  • Prod multiple copies of gene
  • Normal function of protein = abnormal + uncontrolled
20
Q

What is gene deletion?

A

Red/loss protein function