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INTRGEN > MOD 5: DNA Mutation, Repair, and Transposons > Flashcards

MOD 5: DNA Mutation, Repair, and Transposons Flashcards

1
Q

What are the four characteristics of a genetic material?

A
  1. Replication
  2. Storage of information
  3. Expression of information
  4. Variation by mutation
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2
Q

This refers to any change in an organism’s genome nucleotide

A

Mutation

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3
Q

This refers to the source of genetic variation and provides the raw material for natural selection

A

Mutation

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4
Q

Mutation leads to genetic damage and contributes to ____________, ____________, and ____________

A

Cell death; genetic diseases; cancer

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5
Q

Mutation affects organisms depending on the type. What are the three known effects?

A
  1. Base-pair alteration
  2. Location of mutation
  3. Function of the affected gene product
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6
Q

TRUE OR FALSE: Mutation can occur spontaneously

A

TRUE

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7
Q

Natural biological mutation = ____________
Chemical processes = ____________

A

Happen naturally; external environment

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8
Q

TRUE OR FALSE: Mutation can be induced by external factors

A

TRUE; By chemicals or radiation

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9
Q

This type of mutation may cause a wide variety of human diseases

A

Single-gene mutations

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10
Q

Mutations are counteracted by a number of ____________

A

DNA repair mechanisms

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11
Q

This can cause chromosome breaks and induce mutations within coding and gene-regulatory regions

A

Transposable elements

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12
Q

This reads the nucleotides in codons

A

tRNA

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13
Q

What are the classifications of gene mutations?

A
  1. Point mutation
    • Substitution
  2. Frameshift mutation
    • Deletion
    • Insertion
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14
Q

This characteristic of the DNA allows the DNA to yield the same code even with changes on the last nucleotide

A

DNA wobble

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15
Q

What are the three effects of function?

A
  1. Loss of function
  2. Gain of function
  3. Suppressor mutation
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16
Q

This effect of gene mutation reduces or eliminates gene function — the gene is dead.

A

Loss of function

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17
Q

This effect of gene mutation codes for gene products with enhances, negative, or new functions

A

Gain of function

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18
Q

This effect of gene mutation is a second mutation that either reverts or relieves the effect of the previous mutation

A

Suppressor mutation

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19
Q

What are the three types of mutation under the loss of function?

A
  1. Null mutation
  2. Recessive mutation
  3. Dominant mutation
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20
Q

This refers to the complete loss of gene function in which two genes are affected

A

Null mutation

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21
Q

This type of mutation shows wild-type phenotype — only one allele has the mutation; the other is still working.

A

Recessive mutation

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22
Q

This type of mutation shows mutant phenotype.

A

Dominant mutation

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23
Q

Dominant negative mutation may result from a disease in which one allele is inactivated.

Even though the other gene is still working, it won’t be expressed due to the small amount of gene products produced.

What do you call this disease?

A

Haploinsufficiency

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24
Q

Mutation by Phenotypic Effects:

This classification of mutation shows visible morphological trait.

Example: Mendel’s pea characteristics

A

Visible

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25
Q

Mutation by Phenotypic Effects:

This classification of mutation alters nutritional characteristics.

Example: Loss of ability to synthesize an essential amino acid in bacteria

A

Nutritional

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26
Q

Mutation by Phenotypic Effects:

This classification of mutation yields changes in protein function.

Example: Defective hemoglobin leading to sickle-cell anemia in humans

A

Biochemical

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27
Q

Mutation by Phenotypic Effects:

This classification of mutation leads to behavior pattern changes.

Example: Brain mutations affecting Drosophila mating behaviors.

A

Behavioral

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28
Q

Mutation by Phenotypic Effects:

This classification of mutation yields altered gene expression.

Example: Regulatory gene mutations affecting expression of the lac operon in E. coli

A

Regulatory

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29
Q

Mutation by Phenotypic Effects:

This classification of mutation alters the organism’s survival.

Example: Tay-sachs and Huntington diseases in humans

A

Lethal

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30
Q

Mutation by Phenotypic Effects:

This classification of mutation occurs in which the phenotype expressed only certain environmental conditions.

Example: Temperature-sensitive mutations affecting coat color in Siamese cats

A

Conditional

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31
Q

What are the two types of location mutation?

A
  1. Somatic mutation
  2. Autosomal mutation
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32
Q

This type of location mutation occurs in any cell in the body except germ cells.

A

Somatic mutation

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33
Q

TRUE OR FALSE: Somatic mutation can be passed on across generations and affect offsprings.

A

FALSE; Gene remains with the person only.

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34
Q

This type of location mutation involves germ cells; x-linked and y-linked

A

Autosomal mutation

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35
Q

This type of location mutation involves germ cells; x-linked and y-linked

A

Autosomal mutation

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36
Q

TRUE OR FALSE: Autosomal mutation can be passed on to offspring

A

TRUE

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37
Q

This type of mutation can occur spontaneously through natural biological and/or chemical processes.

A

Spontaneous mutations

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38
Q

What is the difference between germ line cells and not germ line cells?

A

In germ line cells, the whole body gets the mutation

In not germ line cells, only patches in the tissue of the mutation are affected

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39
Q

This type of mutation can be induced by external factors such as chemicals and/or radiation.

A

Induced mutations

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40
Q

This refers to the likelihood that a gene will undergo mutation in a single generation

A

Mutation rate

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41
Q

TRUE OR FALSE: Mutation rate varies between organisms but is the same within the species.

A

FALSE; Mutation rate also varies within the species, from gene to gene.

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42
Q

This refers to the part of the gene that is usually mutated

A

Mutation hot spots

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43
Q

In slippage, when looping occurs on the newly synthesized strand, what happens to the nucleotides?

A

The result is the addition of nucleotides

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44
Q

In slippage, when looping occurs on the template strand, what happens to the nucleotides?

A

The result is the omission of nucleotides

45
Q

This refers to the transfer of double bonds

A

Tautomeric shifts

46
Q

Tautomeric shifts are caused by the movement of __________

A

Protons

47
Q

This refers to the loss of one of the nitrogenous bases in an intact double-helical DNA molecule

A

Depurination

48
Q

What are the two usual nitrogenous bases involved in depurination?

A

Guanine and adenine

49
Q

What two nitrogenous bases are involved in deamination?

A

Cytosine and adenine

50
Q

In deamination, an amino group in cytosine or adenine is converted into a __________ group

A

Keto

51
Q

In these bases, cytosine is converted to __________, and adenine is changed to __________ — resembling the compound, __________

A

Uracil; guanine; hypoxanthine

52
Q

An oxygen that becomes more negative becomes a __________

A

Superoxide

53
Q

TRUE OR FALSE: Superoxides are not really reactive

A

FALSE; They are highly reactive

54
Q

Oxidative damage may cause 5 breaks. What are they?

A
  1. Base mismatch
  2. Single-strand breaks
  3. Double-strand breaks
  4. Crosslink inter-strand breaks
  5. Crosslink intra-strand breaks
55
Q

What are the four effects of oxidative damage?

A
  1. Mitochondrial dysfunction
  2. Synaptic deficit
  3. Necrosis
  4. Cognitive impairment
56
Q

What are the causes of Reactive Oxygen Species (ROS)?

A
  1. UV
  2. Radiations
  3. Chemical pollutants
57
Q

What are the four chemical reactions under induced mutation?

A
  1. Base analogs
  2. Intercalating, alkylating, and adduct-forming agents
  3. Ultraviolet light
  4. Ionizing radiation
58
Q

Base analogs show the similarity of the chemical structure of __________ and __________

A

5-bromouracil (5-BU) and thymine

59
Q

In the common keto form, 5-BU base-pairs normally with __________

A

Adenine

60
Q

In the rare enol form, 5-BU pairs anonymously with _________

A

Guanine

61
Q

This refers to molecules that go in between DNA strands

A

Intercalating agents

62
Q

What are the two dyes used as intercalating agents?

A
  1. Acridine orange
  2. Ethidium bromide
63
Q

This refers to the dye that causes frameshift mutation by creating unusual spacing between nucleotides

A

Acridine orange

64
Q

This refers to the dye that causes frameshift mutation by creating unusual spacing between nucleotides

A

Acridine orange

65
Q

This refers to the dye that fluoresces when viewed under AGE

A

Ethidium bromide

66
Q

Alkylating agents convert __________ to __________

A

Guanine to 6-ethylguanine

67
Q

What alkylating agent converts guanine to 6-ethylguanine?

A

Ethylmethane sulfonate (EMS)

68
Q

What nitrogenous base does 6-ethylguanine base-pair with?

A

Thymine

69
Q

This mutating agent is effective, common, and does not always cause bad mutations.

A

Ethyl Methanesulfonate (EMS)

70
Q

This is a segment of DNA bound to a cancer-causing chemical

A

DNA adduct

71
Q

These are used as biomarkers of exposure in scientific experiments, binding to DNA and leading to cancer

A

DNA adduct

72
Q

DNA adduct is usually a product of a reaction between __________ and __________

A

Chemicals and one’s DNA

73
Q

This is a significant constituent of tobacco smoke

A

Acetaldehyde

74
Q

This binds to DNA, causes crosslinking, and leads to cell death

A

Cisplatin

75
Q

This is a naturally-occurring produce of lipid peroxidation

A

Malondialdehyde

76
Q

What are the 14 chemicals that form DNA adducts?

A
  1. Acetaldehyde
  2. Cisplatin
  3. DMBA
  4. Malondialdehyde
  5. Polycyclic Aromatic Hydrocarbons (PAHs)
  6. Nitro-PAHs
  7. Aflatoxins
  8. Mustards
  9. Aromatic Amines
  10. Heterocyclic Aromatic Amines (HAAs)
  11. Methylating Agents
  12. Other alkylating agents
  13. Haloalkanes
  14. Nitrosamines
77
Q

This refers to electromagentic spectrum and their associated wavelengths

A

Ultraviolet light and ionizing radiation

78
Q

Mutations can be induced by many types of __________ and __________

A

Chemicals and radiation

79
Q

What are the different types of mutation that causes disease?

A
  1. Missense
  2. Nonsense
  3. Insertion
  4. Deletion
  5. Trinucleotide repeat expansions
80
Q

This type of mutation causes the disorder achondroplasia.

Molecular change:
Glycine to arginine at position 380 of FGFR3 gene

A

Missense

81
Q

This type of mutation causes the disorder Marfan syndrome.

Molecular change:
Tyrosine to STOP codon at position 2113 of fibrillin-1 gene

A

Nonsense

82
Q

This type of mutation causes the disorder Familial hypercholesterolemia.

Molecular change:
Various short insertions through the LDLR gene

A

Insertion

83
Q

This type of mutation causes the disorder cystic fibrosis.

Molecular change:
Three-base-pair deletion of phenylalanine codon at position 508 of CFTR gene

A

Deletion

84
Q

This type of mutation causes the disorder Huntington disease

Molecular change:
>40 repeats of (CAG) sequence in coding region of Huntingtin gene

A

Trinucleotide repeat expansions

85
Q

This is a hereditary condition in which the growth of long bones is restricted by the ossification of cartilage

A

Achondroplasia

86
Q

This results in very short limbs and sometimes a face that is small in relation to the skull

A

Achondroplasia

87
Q

The Marfan syndrome affects what tissue that provides support for the body and organs?

A

Connective tissue

88
Q

This syndrome damages the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage

A

Marfan syndrome

89
Q

Familial hypercholesterolemia is caused by a defect on what chromosome?

A

Chromosome 19

90
Q

This disease makes the body unable to remove low density lipoprotein cholesterol from the blood

A

Familial hypercholesterolemia

91
Q

What is damaged by cystic fibrosis?

A

The lungs, digestive tract, and other organs

92
Q

This disease may be inherited and affect cells that produce mucus, sweat, and digestive juices

A

Cystic fibrosis

93
Q

This consists of a group of human diseases that are a result of an abnormal expansion of repetitive sequences

A

Trinucleotide repeat disorders

94
Q

What organ system is affected by the trinucleotide repeat disorders?

A

Nervous system

95
Q

This DNA repair system detects incorrect bases and reverses them

A

Proofreading

96
Q

This is activated when proofreading still has errors, replacing incorrect nucleotides with correct ones

A

Mismatch repair (MMR)

97
Q

This repair system is the last resort type or repair, allowing cells to continue to survive even with a lot of damages/mutations

A

SOS Repair system

98
Q

TRUE OR FALSE: The SOS repair system allows cells to survive without mutations

A

FALSE; Cells are enabled to survive, but are mutated

99
Q

The SOS repair system is always repressed by what protein?

A

LexA protein

100
Q

This revers to the reversal of UV damage, requiring UV-induced damage forming pyrimidine dimers

A

Photoreactivation repair

101
Q

Photoreactivation repair is dependent on proteins called __________

A

Photoreactivation Enzyme (PRE) or phytolyase

102
Q

TRUE OR FALSE: Photoreactivation repairs are present in humans but not in bacteria, fungi, plants, and some vertebrates

A

FALSE; Present in bacteria, fungi, plants and some vertebrates; Absent in humans

103
Q

This is referred to as excision repair or cut-and-paste mechanisms

A

Base excision repair (BER)

104
Q

What are the three steps in base excision repair (BER)?

A
  1. Recognition of damage and enzymatically cliipping it out by an endonuclease
  2. DNA polymerase fills in the gap
  3. DNA ligase seals the final nick
105
Q

What are the two types of base excision repairs (BER)?

A

Class 1 - Copy & Paste
Class 2 - Cut & Paste

106
Q

This class of BER is the longer method, requiring the transposon to get transcribed, undergoing reverse transcription

A

Class 1 - Copy & Paste

107
Q

This class of BER cuts the region and pastes it to another part. It is the shorter method

A

Class 2 - Cut & Paste

108
Q

What are the two transposable elements in humans?

A
  1. Long Interspersed Elements (LINEs)
  2. Short Interspersed Elements ( SINEs)

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