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BS1050 Genes > DNA Mutagenesis: Mechanisms & Biological Relevance > Flashcards

DNA Mutagenesis: Mechanisms & Biological Relevance Flashcards

1
Q

DNA mutation

A

Change in nucleotide sequence or rearrangement of genetic material

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2
Q

Heritable mutations

A
  • Organisms (parental germline)
  • Viruses
  • Can drive evolution
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3
Q

Acquired mutations

A 
Somatic cells (so not present in all cells of body)
-Can lead to cancer
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4
Q

Types of mutation

A
  • Silent
  • Missense
  • Nonsense
  • Frameshift
  • Gross change
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5
Q

Mutations arise from

A

1) Misrepair of DNA damage

2) Spontaneous events

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6
Q

Exogeneous sources of DNA damage

A
  • Ionising radiation
  • Alkylating agents
  • UV light
  • Anti-cancer agents
  • Free radicals
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7
Q

Endogeneous sources of DNA damage

A
  • Free radicals

- Myosis

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8
Q

Types of DNA base damage

A
  • Mismatch
  • Base modification
  • Abasic site
  • Bulky adduct
  • Interstrand crosslink
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9
Q

Types of DNA backbone damage

A
  • Single strand break

- Double strand break

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10
Q

Most common indirect DNA damage

A

Radiolysis of water

H2O -> free radicals

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11
Q

Free radical

A

Highly reactive atom or molecule with single unpaired electron

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12
Q

Effects of single-strand break

A

Little effect, relatively simple to fix

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13
Q

Effects of double-strand break

A
  • very difficult to fix
  • Genotoxic: misrepair can cause gross structural changes
  • Cytotoxic: no repair can be cytotoxic
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14
Q

Intercalating agents

A
  • Add or delete single nucleotide at replication

- Induce frameshift mutations

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15
Q

Alkylating agents

A
  • Very powerful mutagens
  • Addition of alkyl group to DNA base
  • Induces mispairing at replication
  • Base substitution
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16
Q

Result of replication fork slippage of newly synthesised strand

A

New strand has an extra nucleotide

17
Q

Result of replication fork slippage of template strand

A

New strand is missing a nucleotide

18
Q

Allele

A

Alternative form of the same gene

19
Q

SNP

A

Single nucleotide polymorphism (single base change in a particular form of a gene)

20
Q

Anonymous SNP

A

No known effect on gene

21
Q

Non-coding SNP

A

Outside gene

22
Q

Coding SNP

A
  • Within Gene

- Can be synonymous (encode same aa as original) or non-synonymous (change aa sequence)

23
Q

CNV

A

‘Copy number variations’ (duplicates of same DNA segment)

24
Q

Achrondoplasia

A

Disorder of bone growth that causes the most common type of dwarfism

25
Q

Allosome

A

Sex chromosome

26
Q

Autosome

A

Chromosome that is not an autosome

27
Q

Cause of Huntington’s Disease

A

Gene has CAG repeats (polyglutamine)
-Normal gene, 6-39 repeats
-Disease gene, 35-121 repeats
Causes aggregates to form

28
Q

Intra-tumour heterogeneity

A

The observation that different tumour cells can show distinct morphological and phenotypic profiles within a tumour mass

29
Q

Hypervariable region

A

A region of a genome that is made up of a variable number of repeated sequences and is diagnostic for an individual

30
Q

Ames test

A

Widely employed method that uses bacteria to test whether a given chemical can cause mutations in the DNA of the test organism. More formally, it is a biological assay to assess the mutagenic potential of chemical compounds

31
Q

Reversion (mutation) frequency

A

Number of revertant colonies per total number of cells plated

32
Q

Mutation rate

A

Number of mutations per generation

33
Q

DNA damage from environment & normal metabolism

A

1x10^6 molecular lesions per cell per day

34
Q

DNA damage response: overview

A

Sensor proteins -> transducer proteins -> Mediators/effectors -> DNA repair OR cell cycle checkpoints/senescence/apoptosis

35
Q

Senescence

A

Temporary arrest (loss of a cell’s power of division and growth)

36
Q

Apoptosis

A

Cell death

37
Q

Cell cycle checkpoint

A

Different stages during mitosis in which temporary arrest takes place (until DNA damage is repaired)

BS1050 Genes (15 decks)

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