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Questions and Answers
What does a permanent change of the base sequence of nucleotides refer to?
What does a permanent change of the base sequence of nucleotides refer to?
Which of the following best describes the function of DNA repair mechanisms?
Which of the following best describes the function of DNA repair mechanisms?
Which process is NOT involved in DNA repair?
Which process is NOT involved in DNA repair?
Which statement is true regarding mutations?
Which statement is true regarding mutations?
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What is NOT a common cause of mutations?
What is NOT a common cause of mutations?
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What occurs as a result of breaking a phosphate diester bond in the DNA backbone?
What occurs as a result of breaking a phosphate diester bond in the DNA backbone?
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What is a consequence of altered or deleted bases in a DNA sequence?
What is a consequence of altered or deleted bases in a DNA sequence?
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Which term describes a mutation that results in changing one codon to another but codes for the same amino acid?
Which term describes a mutation that results in changing one codon to another but codes for the same amino acid?
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Which of the following statements is false regarding altered bases in DNA?
Which of the following statements is false regarding altered bases in DNA?
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What best describes the role of phosphate diester bonds in DNA?
What best describes the role of phosphate diester bonds in DNA?
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What is the primary role of DNA repair mechanisms?
What is the primary role of DNA repair mechanisms?
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Which of the following statements about DNA repair is false?
Which of the following statements about DNA repair is false?
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Which mechanism is commonly involved in the DNA repair process?
Which mechanism is commonly involved in the DNA repair process?
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What consequence can result from inefficient DNA repair processes?
What consequence can result from inefficient DNA repair processes?
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Which of the following is NOT a major type of DNA damage that repair mechanisms address?
Which of the following is NOT a major type of DNA damage that repair mechanisms address?
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What is the primary function of DNA polymerase beta in DNA repair?
What is the primary function of DNA polymerase beta in DNA repair?
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Which enzyme is responsible for the ligation process in DNA repair?
Which enzyme is responsible for the ligation process in DNA repair?
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What is the order of operations when repairing damaged DNA?
What is the order of operations when repairing damaged DNA?
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What role does DNA ligase play in the context of DNA repair?
What role does DNA ligase play in the context of DNA repair?
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Which statement about damaged DNA repair is incorrect?
Which statement about damaged DNA repair is incorrect?
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What is the primary role of mismatch repair mechanisms?
What is the primary role of mismatch repair mechanisms?
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What type of repair is base excision repair (BER) specifically responsible for?
What type of repair is base excision repair (BER) specifically responsible for?
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Which of the following accurately describes nucleotide excision repair (NER)?
Which of the following accurately describes nucleotide excision repair (NER)?
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Which statement is true regarding the types of DNA repair mechanisms?
Which statement is true regarding the types of DNA repair mechanisms?
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What distinguishes excision repair from mismatch repair mechanisms?
What distinguishes excision repair from mismatch repair mechanisms?
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What is the primary role of DNA ligase in DNA replication?
What is the primary role of DNA ligase in DNA replication?
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Which disease is associated with defects in DNA mismatch repair?
Which disease is associated with defects in DNA mismatch repair?
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What can be concluded about the role of DNA mismatch repair mechanisms?
What can be concluded about the role of DNA mismatch repair mechanisms?
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What is a key consequence of malfunctioning DNA mismatch repair systems?
What is a key consequence of malfunctioning DNA mismatch repair systems?
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Which statement accurately describes DNA ligase's function in the DNA replication process?
Which statement accurately describes DNA ligase's function in the DNA replication process?
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Which type of agent is primarily responsible for causing mutations?
Which type of agent is primarily responsible for causing mutations?
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Which category does NOT typically include environmental factors known to induce mutations?
Which category does NOT typically include environmental factors known to induce mutations?
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In the context of mutation types, what is the main distinction between physical, chemical, and biological agents?
In the context of mutation types, what is the main distinction between physical, chemical, and biological agents?
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Which statement best describes the relationship between chemical agents and mutations?
Which statement best describes the relationship between chemical agents and mutations?
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Which of the following is considered a biological agent that can cause mutations?
Which of the following is considered a biological agent that can cause mutations?
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What is the primary effect of UV exposure on adjacent pyrimidines in DNA?
What is the primary effect of UV exposure on adjacent pyrimidines in DNA?
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What structural change in DNA is caused by the formation of thymine dimers?
What structural change in DNA is caused by the formation of thymine dimers?
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What can occur if thymine dimers in DNA are not repaired?
What can occur if thymine dimers in DNA are not repaired?
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Which of the following best describes a thymine dimer's role in DNA damage?
Which of the following best describes a thymine dimer's role in DNA damage?
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What is a potential long-term consequence of repeated exposure to UV light on DNA?
What is a potential long-term consequence of repeated exposure to UV light on DNA?
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What is the primary function of excision repair mechanisms in DNA?
What is the primary function of excision repair mechanisms in DNA?
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Which type of repair specifically deals with single base lesions in DNA?
Which type of repair specifically deals with single base lesions in DNA?
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Which of the following statements best describes nucleotide excision repair (NER)?
Which of the following statements best describes nucleotide excision repair (NER)?
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What distinguishes base excision repair (BER) from mismatch repair (MMR)?
What distinguishes base excision repair (BER) from mismatch repair (MMR)?
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Which best describes the mechanism by which mismatch repair systems function?
Which best describes the mechanism by which mismatch repair systems function?
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What consequence is primarily associated with marked sensitivity to ultraviolet light?
What consequence is primarily associated with marked sensitivity to ultraviolet light?
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Which of the following is NOT a potential outcome of ultraviolet light exposure?
Which of the following is NOT a potential outcome of ultraviolet light exposure?
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What are the long-term risks associated with continuous exposure to ultraviolet rays?
What are the long-term risks associated with continuous exposure to ultraviolet rays?
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Which statement accurately reflects the consequences of ultraviolet light sensitivity?
Which statement accurately reflects the consequences of ultraviolet light sensitivity?
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Which of the following is a characteristic of sensitivity to ultraviolet sunlight?
Which of the following is a characteristic of sensitivity to ultraviolet sunlight?
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What is a potential consequence of ineffective DNA repair mechanisms on cellular function?
What is a potential consequence of ineffective DNA repair mechanisms on cellular function?
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Which of the following statements about nucleotide excision repair (NER) is accurate?
Which of the following statements about nucleotide excision repair (NER) is accurate?
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What is the first step carried out by the DNA mismatch repair nuclease complex when it encounters damaged bases?
What is the first step carried out by the DNA mismatch repair nuclease complex when it encounters damaged bases?
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In the context of base excision repair (BER), what is the primary function of DNA glycosylases?
In the context of base excision repair (BER), what is the primary function of DNA glycosylases?
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In the context of DNA mismatch repair, which process occurs after the binding of the nuclease complex?
In the context of DNA mismatch repair, which process occurs after the binding of the nuclease complex?
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Which specific activity does the endo then exo nuclease refer to in DNA mismatch repair?
Which specific activity does the endo then exo nuclease refer to in DNA mismatch repair?
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What distinguishes mismatch repair (MMR) from other DNA repair mechanisms?
What distinguishes mismatch repair (MMR) from other DNA repair mechanisms?
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Which of these processes is least likely involved in the repair of DNA double-strand breaks?
Which of these processes is least likely involved in the repair of DNA double-strand breaks?
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What is the role of the DNA mismatch repair nuclease in maintaining genetic integrity?
What is the role of the DNA mismatch repair nuclease in maintaining genetic integrity?
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Which of the following scenarios accurately describes a consequence of improper functioning of the DNA mismatch repair nuclease complex?
Which of the following scenarios accurately describes a consequence of improper functioning of the DNA mismatch repair nuclease complex?
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Study Notes
DNA Mutation
- DNA mutation is a permanent change in the base sequence of nucleotides.
- Mutations can be categorized by size:
- Gross mutations occur at the chromosome level.
- Small mutations occur at the DNA level.
- Spontaneous mutations arise from uncorrected replication errors.
- Induced mutations are caused by external mutagens:
- Physical mutagens (e.g., ionizing radiation like gamma and X-rays, non-ionizing radiation like UV radiation, electromagnetic radiation from mobile phones, satellites and computers).
- Chemical mutagens (e.g., carcinogens like cigarette smoke).
- Biological mutagens (e.g., viruses like Hepatitis C Virus (HCV) leading to Hepatocellular carcinoma (HCC), Human papilloma virus (HPV) linked to cervical cancer, bacteria like H. pylori causing gastric cancer).
Types of DNA Damage
- DNA damage can lead to breaks in the phosphate diester bonds of the DNA backbone.
- Base changes or deletions can also occur.
- Point mutations involve changes in a single codon:
- Silent mutations do not affect protein production as the amino acid remains the same.
- Missense mutations lead to a change in one amino acid.
- Nonsense mutations change a normal codon to a stop codon.
- Sense mutations change a termination codon to one that codes for an amino acid.
- UV radiation can cause adjacent pyrimidines to form thymine dimers, distorting the DNA helix.
- If damage is not repaired, permanent mutations can lead to hereditary disorders.
DNA Repair
- DNA repair involves enzymes that scan for damage, recognize it, remove it, and resynthesize the DNA.
- Enzymes such as endonucleases, exonucleases, DNA polymerase, and ligase are crucial for this process.
- Endonucleases recognize and cut the damaged strand.
- Exonucleases remove the damaged section.
- DNA polymerase fills in the gap.
- Ligase seals the gap.
- Mismatch repair corrects errors during replication.
- Excision repair corrects damage from exogenous agents (e.g., chemical or physical):
- Base excision repair (BER) corrects base errors (e.g., X-ray errors).
- Nucleotide excision repair (NER) corrects larger defects like thymine dimers caused by UV radiation or chemical mutagens.
Diseases Related to DNA Repair
- Xeroderma pigmentosum (XP) is an autosomal recessive condition caused by the deficiency of a UV-specific endonuclease.
- XP leads to high sensitivity to sunlight, skin damage, multiple skin cancers, and premature death.
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