Podcast
Questions and Answers
What is the primary consequence of depurination in DNA?
What is the primary consequence of depurination in DNA?
- It always results in a translocation mutation.
- It causes the double helix structure to stabilize.
- It leads to the formation of an apurinic site. (correct)
- It prevents the insertion of transposable elements.
Which of the following is a common cause of spontaneous mutations?
Which of the following is a common cause of spontaneous mutations?
- Depurination, deamination, and tautomeric shifts. (correct)
- DNA proofreading errors during replication.
- Radiation therapy.
- Exposure to extreme temperatures.
What can happen if a depurination event is not repaired?
What can happen if a depurination event is not repaired?
- It leads to the introduction of a complementary base.
- A mutation may occur due to the absence of a complementary base. (correct)
- It results in the formation of a tautomeric shift.
- The DNA becomes more stable and resistant to mutations.
What role do chemical agents have in relation to DNA?
What role do chemical agents have in relation to DNA?
Which of the following statements about tautomeric shifts is true?
Which of the following statements about tautomeric shifts is true?
What type of mutation involves the loss of all or part of a chromosome?
What type of mutation involves the loss of all or part of a chromosome?
Which of the following best describes 'position effect'?
Which of the following best describes 'position effect'?
What are germ-line cells responsible for?
What are germ-line cells responsible for?
What can cause induced mutations?
What can cause induced mutations?
Which type of chromosomal mutation results from a gene moving close to regulatory sequences of another gene?
Which type of chromosomal mutation results from a gene moving close to regulatory sequences of another gene?
What type of mutation can cause changes in the number or structure of chromosomes?
What type of mutation can cause changes in the number or structure of chromosomes?
What happens when a chromosomal rearrangement alters the expression of a gene?
What happens when a chromosomal rearrangement alters the expression of a gene?
What can aberrant recombination during meiosis potentially cause?
What can aberrant recombination during meiosis potentially cause?
What type of mutation involves a substitution of a single base pair?
What type of mutation involves a substitution of a single base pair?
Which mutation is characterized by a change from a purine to a pyrimidine?
Which mutation is characterized by a change from a purine to a pyrimidine?
What is the major consequence of a nonsense mutation?
What is the major consequence of a nonsense mutation?
Which type of mutation is most likely to produce a completely different amino acid sequence downstream?
Which type of mutation is most likely to produce a completely different amino acid sequence downstream?
Which type of effect does an up promoter mutation have on transcription?
Which type of effect does an up promoter mutation have on transcription?
What kind of mutation does NOT alter protein function?
What kind of mutation does NOT alter protein function?
What is the effect of a deleterious mutation?
What is the effect of a deleterious mutation?
Which type of mutation might provide a survival advantage in the presence of malaria?
Which type of mutation might provide a survival advantage in the presence of malaria?
Which of the following mutations alters the stability of RNA but does not change the amino acid sequence?
Which of the following mutations alters the stability of RNA but does not change the amino acid sequence?
What is a characteristic of frameshift mutations?
What is a characteristic of frameshift mutations?
What type of radiation is capable of penetrating deeply into biological materials?
What type of radiation is capable of penetrating deeply into biological materials?
Which type of radiation is primarily responsible for the formation of thymine dimers in DNA?
Which type of radiation is primarily responsible for the formation of thymine dimers in DNA?
What is the first step in the DNA repair process?
What is the first step in the DNA repair process?
Which DNA repair system involves removing a segment of DNA and using the complementary strand as a template?
Which DNA repair system involves removing a segment of DNA and using the complementary strand as a template?
Which repair mechanism is specifically used for repairing double-strand breaks in DNA?
Which repair mechanism is specifically used for repairing double-strand breaks in DNA?
Which type of DNA alteration can ionizing radiation cause?
Which type of DNA alteration can ionizing radiation cause?
What is the main characteristic that distinguishes nonionizing radiation from ionizing radiation?
What is the main characteristic that distinguishes nonionizing radiation from ionizing radiation?
What effect does tanning have on DNA concerning UV light exposure?
What effect does tanning have on DNA concerning UV light exposure?
What is the result of deamination of cytosine?
What is the result of deamination of cytosine?
What problem arises from deamination of 5-methylcytosine?
What problem arises from deamination of 5-methylcytosine?
Which of the following is a chemical mutagen that acts as a base analog?
Which of the following is a chemical mutagen that acts as a base analog?
What effect do alkylating agents have on DNA?
What effect do alkylating agents have on DNA?
What occurs during a tautomeric shift of thymine or guanine?
What occurs during a tautomeric shift of thymine or guanine?
How do physical mutagens generally affect DNA?
How do physical mutagens generally affect DNA?
What is a characteristic of intercalating agents?
What is a characteristic of intercalating agents?
Which of the following describes base modifiers?
Which of the following describes base modifiers?
What could be a consequence if uracil is not repaired in DNA?
What could be a consequence if uracil is not repaired in DNA?
5-Bromouracil can lead to mutations by pairing incorrectly due to what process?
5-Bromouracil can lead to mutations by pairing incorrectly due to what process?
What enzyme is specifically known for repairing thymine dimers through photoreactivation?
What enzyme is specifically known for repairing thymine dimers through photoreactivation?
Which DNA repair mechanism is capable of fixing missing bases and cross-links?
Which DNA repair mechanism is capable of fixing missing bases and cross-links?
Which of the following proteins is NOT part of the Nucleotide Excision Repair system in E. coli?
Which of the following proteins is NOT part of the Nucleotide Excision Repair system in E. coli?
Inherited defects in genes involved in Nucleotide Excision Repair are associated with which of the following diseases?
Inherited defects in genes involved in Nucleotide Excision Repair are associated with which of the following diseases?
What triggers the mismatch repair system to correct base pair mismatches in DNA?
What triggers the mismatch repair system to correct base pair mismatches in DNA?
Mismatch repair systems are present in which of the following organisms?
Mismatch repair systems are present in which of the following organisms?
Which proteins in E. coli are primarily responsible for recognizing and removing damaged DNA during NER?
Which proteins in E. coli are primarily responsible for recognizing and removing damaged DNA during NER?
What is the primary cause of base pair mismatches during DNA replication?
What is the primary cause of base pair mismatches during DNA replication?
Flashcards
Point Mutation
Point Mutation
A change in a single base pair of DNA.
Transition
Transition
A point mutation where a pyrimidine (C or T) is replaced by another pyrimidine, or a purine (A or G) replaced by another purine.
Transversion
Transversion
A point mutation where a pyrimidine is replaced by a purine, or vice versa.
Frameshift Mutation
Frameshift Mutation
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Silent Mutation
Silent Mutation
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Missense Mutation
Missense Mutation
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Nonsense Mutation
Nonsense Mutation
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Deletions
Deletions
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Beneficial Mutation
Beneficial Mutation
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Neutral Mutation
Neutral Mutation
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Chromosomal mutations
Chromosomal mutations
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Types of chromosomal mutations
Types of chromosomal mutations
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Deletion (mutation)
Deletion (mutation)
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Position effect
Position effect
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Spontaneous mutations
Spontaneous mutations
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Induced mutations
Induced mutations
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Germ-line cells
Germ-line cells
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Somatic cells
Somatic cells
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Depurination
Depurination
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Apurinic Site
Apurinic Site
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Deamination
Deamination
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Tautomeric Shift
Tautomeric Shift
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Ionizing Radiation
Ionizing Radiation
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Free Radicals
Free Radicals
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Nonionizing Radiation
Nonionizing Radiation
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Thymine Dimers
Thymine Dimers
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DNA Repair
DNA Repair
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Base Excision Repair
Base Excision Repair
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Nucleotide Excision Repair
Nucleotide Excision Repair
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Mismatch Repair
Mismatch Repair
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Uracil in DNA
Uracil in DNA
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5-methylcytosine
5-methylcytosine
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Keto vs. Enol
Keto vs. Enol
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Mutagens
Mutagens
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Chemical Mutagens
Chemical Mutagens
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Base Modifiers
Base Modifiers
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Alkylating Agents
Alkylating Agents
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Intercalating Agents
Intercalating Agents
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DNA Repair: What's the first step?
DNA Repair: What's the first step?
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Direct Repair: What's the enzyme?
Direct Repair: What's the enzyme?
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Nucleotide Excision Repair: What does it repair?
Nucleotide Excision Repair: What does it repair?
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NER Proteins: What are Uvr proteins?
NER Proteins: What are Uvr proteins?
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Diseases and NER Genes: What are XP and CS?
Diseases and NER Genes: What are XP and CS?
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Mismatch Repair: What's the main challenge?
Mismatch Repair: What's the main challenge?
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Mismatch Repair and Proofreading: How do they work?
Mismatch Repair and Proofreading: How do they work?
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Mismatch Repair and Cancer: What's the connection?
Mismatch Repair and Cancer: What's the connection?
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Study Notes
Gene Mutation and DNA Repair
- Mutations are variations in DNA, arising from mistakes during DNA replication.
- Mutations are changes in the DNA nucleotide sequence and can lead to heritable changes in genetic information.
- Organisms have evolved DNA repair mechanisms to combat the harmful effects of mutations.
Types of Mutations
- Mutations are broadly categorized into gene mutations and chromosomal mutations.
- Gene mutations affect a single gene, while chromosomal mutations affect whole chromosomes.
- Gene mutations can further be classified as point mutations (affecting a single base pair) or deletions/insertions (affecting multiple base pairs).
Point Mutations
- Point mutations, also known as single nucleotide polymorphisms (SNPs), involve changes in a single base pair.
- They can be categorized as transitions (pyrimidine to pyrimidine or purine to purine substitution) or transversions (pyrimidine to purine or purine to pyrimidine substitution).
- Point mutations can lead to different outcomes, ranging from no effect on the amino acid sequence (silent mutations) to significant changes resulting in missense mutations or nonsense mutations.
Deletions/Insertions
- Deletions or insertions of base pairs can alter the reading frame (frameshift mutations).
- Frameshift mutations lead to changes in the amino acid sequence downstream of the mutation, often creating nonfunctional proteins.
Mutations in Coding Sequences
- Silent mutations do not alter the amino acid sequence due to the degeneracy of the genetic code.
- Missense mutations change a single amino acid, potentially affecting protein function.
- Example: Sickle-cell anemia.
- Nonsense mutations introduce a premature stop codon, resulting in a truncated polypeptide.
Mutations in Noncoding Sequences
- Mutations in non-coding sequences can affect gene expression.
- Promoter mutations can increase or decrease transcription.
- Splice junctions mutations can alter RNA stability and translation.
Mutations' Consequences on Genotype and Phenotype
- Neutral mutations have no effect on protein function.
- Deleterious mutations lower survival and reproductive chances.
- Lethal mutations result in cell or organism death.
- Beneficial mutations enhance survival and reproductive success.
- Conditional mutations only affect phenotype under specific environmental conditions.
Chromosomal Mutations
- Chromosomal mutations involve changes in the number or structure of chromosomes.
- Four primary types are deletion, duplication, inversion, and translocation.
- Deletion involves loss of chromosomal segments.
- Duplication involves increased copies of chromosomal segments.
- Inversion involves reversal of segment order.
- Translocation involves movement of segments to different chromosomes.
Position Effects
- Position effects arise when a gene's expression changes due to its new location within the chromosome.
- Relocation to a heterochromatic region can significantly affect gene expression.
Mutations in Germ-Line or Somatic Cells
- Germ-line mutations affect gametes, potentially being passed down through generations.
- Somatic mutations affect non-reproductive cells and are not heritable.
Causes of Mutations
- Mutations can be spontaneous (arising from natural cellular processes) or induced (caused by environmental factors).
- Spontaneous mutations include depurination, deamination, and tautomeric shifts.
- Induced mutations can be caused by chemical mutagens (e.g., alkylating agents, intercalating agents, base analogs) or physical mutagens (e.g., ionizing radiation, non-ionizing radiation).
DNA Repair Mechanisms
- Living cells have multiple DNA repair systems to counteract mutations and restore the original DNA sequence.
- Common systems include direct repair, nucleotide excision repair, and mismatch repair.
- Specific DNA repair proteins recognize, remove, and replace damaged nucleotides in the DNA.
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