Lecture 8 - How Are Genetic Changes Generated and Inherited? Flashcards

1
Q

How are genetic changes generated?

A
  • errors in replication - causing mutations
  • DNA repair processes aren’t always effective
  • external impacts + stress - causing mutations
  • induced mutations in the lab
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2
Q

why are mutations important in biology?

A
  • viability - most neural/deleterious
    • diploid - less likely to have an effect
    • haploid - more likely to have an effect and be deleterious
  • genetic diversity - variation
  • germ line mutations - passed to offspring
  • somatic mutations - can cause disease - cancer
  • diversity in microbes - cause AMR
  • genetic mapping
  • genetic screens
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3
Q

What types of mutation will be recessive or dominant?

A
  • loss of function - recessive
  • gain of function - dominant
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4
Q

What are 4 examples of mutations?

A
  • single base changes
  • deletions / insertions
  • DNA replication slippage
  • bigger issues (chromosome)
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5
Q

What is the effect of UV radiation on the DNA sequence?

A
  • can cause adjacent thymine bases to become covalently linked as thymine dimers
  • nucleotide excision repair pathways recognises and removes these
  • nuclease cuts before and after thymine dimer to remove it
  • polymerase replaces complementary nucleotides
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6
Q

Explain the Ames test for mutagenicity

A
  • potential mutagen
  • histadine-dependent salmonella
  • homogenised liver extract
    mixed and plated on agar medium lacing histidine
  • incubated
  • plates which have lots of mutagen grown are carcinogenic
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7
Q

What is the Ames test?

A

A test to determine a carcinogen by measuring the ability of the chemical to reverse the histamine-dependant mutation in the strain of salmonella used

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8
Q

What is an oncogene?

A
  • a gene that the protein causes cancer
  • because of mutations in a regular gene has resulted in It being overactive
  • dominant
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9
Q

What is a tumour suppressor?

A
  • a gene that encodes a protein that restrains cell proliferation
  • loss of this gene increases likelihood of cancer
  • recessive - needs to loose in both copies
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10
Q

What is S phase?

A

DNA replicates

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11
Q

What is M phase?

A

mitosis
cytokinesis

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12
Q

What are G1 and G2?

A

growth phases

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13
Q

What 3 things are important about cell cycle?

A

1) order of events
2) once per cell
3) fidelity of events - correctly copied

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14
Q

what do cyclin dependent kinases (CDKs) need to be fully active and what do they form?

A
  • cyclin
  • cyclin - CDK complexes
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15
Q

What is the role of cyclin-CDK complexes?

A

regulate cell cycle

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16
Q

Explain cyclin concentration throughout the cell cycle and what this means for cyclin dependent kinases

A
  • cyclin accumulates going into mitosis
  • then degrades
  • activity of cyclin-CDK complexes increases asa the concentration of cyclin decreases
17
Q

What holds sister chromatids together and when does this happen?

A
  • cohesin rings - causing cohesion
  • during S phase
18
Q

What is the role of the kinetochore?

A

bind the spindle microtubules

19
Q

Why is it so important that sister chromatids are held together?

A
  • bi orientation - so that they are attaching to opposite poles
  • has to happen before anaphase
20
Q

What is aneuploidy?

A

incorrect number of chromosomes

21
Q

What happens at the M checkpoint?

A

cell will wait here of there is:
- spindle damage
- connection issues
as there will not be biorientation

22
Q

What is the S + G2 checkpoint called?

A

cell will wait if there is DNA damage