MUTATION & MUTAGENESIS Flashcards

1
Q

What about point mutations?

A

They are the most common and the least dangerous

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2
Q

Most dangerous mutations

A

Addition or deletion

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3
Q

What are pyrimidines?

A

C/T/U

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4
Q

What are purines?

A

A/G

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5
Q

3 main causes of mutations

A

1) DNA damage
2) random insertion of transposable elements
3) Replication errors

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6
Q

Describe a transition point mutation

A

The mutation of a pyrimidine to a pyrimidine or a purine to a purine

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7
Q

Describe a transversion point mutation

A

The mutation of a purine to a pyrimidine or pyrimidine to a purine

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8
Q

What is a tautomer?

What kind of mutation do they cause?

A

An alternative form of a nucleotide base that bonds to a different base from its usual complement

  • Can cause a point mutation.
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9
Q

Thymine is normal in its __(a)__ form. Its tautomer is called the __(b)___ form and has a double bonded ___(c)___. This means that it binds to ___(d)____ as opposed to ___(e)____.

A

a) keto
b) enol
c) Nitrogen
d) guanine
e) adenine

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10
Q

Cytosine is normal in its ___(a)___ form. Its tautomer is called the ___(b)__ form and binds to ___(c)___ instead of ___(d)____.

A

a) amino
b) imino
c) adenine
d) guanine

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11
Q

3 ways in which errors in DNA replication can lead to mutation

A

1) failure of the epsilon subunit to correct mismatch when proof reading
2) tautomeric shift causing mismatches
3) replication slippage

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12
Q

a) How do replication slippages occur?

A

a) repeating bases such as ctctctct will bind to a corresponding sequence elsewhere creating a loop or slip
- DNA repair will often delete the loop and cause a frameshift

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13
Q

A slippage on the TEMPLATE strand can cause….

A

deletions

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14
Q

A slippage on the NEWLY SYNTHESISED STRAND can cause…

A

additions

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15
Q

EXTERNAL damage to DNA

a) How does UV radiation damage DNA?
b) How does ionising radiation damage DNA?
c) How do external chemicals such as cigarette smoke damage DNA?

A

a) cause pyrimidine dimers to be formed
b) breaks in DNA
c) can damage bases

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16
Q

Internal cellular damage attacks DNA ______

A

nucleotides

17
Q

What is an abasic site?

A

is a location in DNA (also in RNA but much less likely) that has neither a purine nor a pyrimidine base, either spontaneously or due to DNA damage.

18
Q

_____ can create abasic sites through hydrolysis of purine bases.

A

Depurination

19
Q

What does deamination cause?

A

hydrolysis of amino group from cytosine & 5- methyl cytosine and cause mispairing of bases

20
Q

how does oxidative damage affect DNA?

A

damage the rings of purine and pyrimidine bases

21
Q

Key point of DNA mismatch system?

Which DNA polymerase does it use? Other enzymes?

A

recognises that the DNA helixes are distorted and cuts newly synthesised strand

DNA pol I
DNA ligase

22
Q

BEP stands for?

A

Base excision repair

23
Q

In the base excision repair system, which base is recognised as unnatural in DNA?

How might this have occurred?

A

uracil

deamination

24
Q

How is uracil removed using the base excision repair system?

A

1) Abasic site formed as uracil is removed using DNA glycosylase
2) AP endonuclease cuts phosphodiester bonds
3) DNA pol I fills gap and DNA ligase seals

25
Q

What form of DNA damage is the nucleotide excision repair system used to repair? How does it stall DNA polymerase?

A

Depurination, forming pyrimidine dimers

  • the diners next to eachother form a covalent bond which means that DNA pol III cannot get past
26
Q

How does the bacterial NER function?

A

PHOTOREACTIVATION

1) UvrAB scans and finds damafe
- UvrBC creates nicks at 5’ and 3’ end to the lesion
- UvrD is a helicase that releases damaged segment

-DNA pol I fills the gap and ligase seals

27
Q

What are DNA polymerases IV and V used for ?

A

(TRANSLESION DNA SYNTHESIS)

when DNA damage is too great, NER is bypassed and these are used to bypass the dimer BUT very error prone

28
Q

Describe 6 ways that we can artificially induce mutation

A

1) introduce transposons
2) base analogues that tautomerise more frequently are introduced
3) EMS
4) proflavin for framsehift mutations
5) Alfatoxin B
6) bisulphite