DNA Mutation Causes

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Questions and Answers

What are spontaneous mutations primarily caused by?

  • Mechanical damage to DNA
  • Errors during DNA replication (correct)
  • Environmental stressors
  • Chemical mutagens

Which of the following contributes to the occurrence of strand-slippage during DNA replication?

  • Presence of base analogs
  • Regions with small repeated sequences (correct)
  • High temperatures during replication
  • Regions with single nucleotide repeats

What type of shift leads to errors during DNA replication, potentially leading to mutations?

  • Covalent modifications
  • Hydrogen bonding alterations
  • Base tautomerism (correct)
  • Reverse transcription errors

Which of the following is NOT considered a physical mutagen?

<p>Intercalating agents (A)</p> Signup and view all the answers

How can mutations potentially affect an organism if not repaired?

<p>They can lead to disease or death. (D)</p> Signup and view all the answers

What is the result of heat causing detachment of bases in nucleotides?

<p>An AP site is created (D)</p> Signup and view all the answers

Which mutagen causes base dimerization in DNA?

<p>Ultraviolet radiation (C)</p> Signup and view all the answers

What effect does deamination of cytosine have on DNA replication?

<p>It produces uracil, which pairs with adenine. (C)</p> Signup and view all the answers

Which of the following is an example of an intercalating agent?

<p>Ethidium bromide (B)</p> Signup and view all the answers

What is a consequence of deaminating agents on adenine?

<p>Adenine is converted to hypoxanthine, pairing with cytosine. (B)</p> Signup and view all the answers

What is the result of deamination of adenine in DNA?

<p>It pairs with C (A)</p> Signup and view all the answers

Which tautomer of adenine can pair with cytosine instead of thymine?

<p>Imino-adenine (D)</p> Signup and view all the answers

How does 5-bromouracil induce mutations during DNA replication?

<p>It can mispair with guanine. (C)</p> Signup and view all the answers

What effect do deaminating agents have on cytosine?

<p>They convert it into uracil. (D)</p> Signup and view all the answers

What is a characteristic of intercalating agents?

<p>They insert between base pairs. (A)</p> Signup and view all the answers

What type of mutation is primarily caused by alkylating agents?

<p>Transition mutation (C)</p> Signup and view all the answers

Which of the following statements regarding UV radiation is true?

<p>It causes base dimerization. (C)</p> Signup and view all the answers

Which base analog mimics thymine in DNA?

<p>5-bromouracil (C)</p> Signup and view all the answers

What type of mutation does hypoxanthine cause when it pairs with C?

<p>Transition mutation (D)</p> Signup and view all the answers

What is a significant consequence of the keto form of thymine during replication?

<p>It can mispair with guanine. (D)</p> Signup and view all the answers

What distinguishes the endonuclease function in human mismatch repair from that in E. coli?

<p>Humans utilize a protein different from MutH as an endonuclease. (C)</p> Signup and view all the answers

What role do telomeres play in the context of nonhomologous end joining?

<p>They identify natural ends of chromosomes. (D)</p> Signup and view all the answers

Which repair mechanism is not methylation-influenced in humans?

<p>Mismatch repair (D)</p> Signup and view all the answers

What is a significant risk factor for individuals with Xeroderma pigmentosum (XP)?

<p>Higher probability of skin and mucous membrane cancer. (D)</p> Signup and view all the answers

How does the function of DNA ligase relate to nonhomologous end joining?

<p>It joins breaks in DNA by sealing the ends together. (D)</p> Signup and view all the answers

What is the initial step in base excision repair in E.coli?

<p>Removal of the damaged base by DNA glycosylase (C)</p> Signup and view all the answers

What causes an apurinic/apyrimidinic (AP) site in DNA?

<p>Heat detachment of bases (B)</p> Signup and view all the answers

Which enzyme is involved in nucleotide excision repair in E.coli?

<p>UvrABC endonuclease (D)</p> Signup and view all the answers

How does E.coli distinguish between the parent strand and the daughter strand during mismatch repair?

<p>By methylation of the parent strand (B)</p> Signup and view all the answers

Which repair mechanism directly involves recognition of mismatches by specific enzymes?

<p>Mismatch repair (B)</p> Signup and view all the answers

What is the consequence of deamination of adenine in DNA?

<p>It pairs with cytosine instead of thymine (C)</p> Signup and view all the answers

Which of the following is a potential effect of intercalating agents on DNA?

<p>Alteration of the DNA structure leading to replication errors (C)</p> Signup and view all the answers

In E.coli, what mechanism is primarily utilized to correct errors during DNA replication?

<p>Mismatch repair (D)</p> Signup and view all the answers

What is a common consequence of inadequate DNA repair mechanisms?

<p>Increased frequency of mutations (D)</p> Signup and view all the answers

Which repair method involves the removal of a single altered base in DNA?

<p>Base excision repair (D)</p> Signup and view all the answers

What is the role of the MGMT enzyme in DNA repair?

<p>It removes alkyl groups from position 6 of G. (D)</p> Signup and view all the answers

Why is ultraviolet (UV) radiation particularly hazardous for humans?

<p>Humans rely solely on nucleotide excision repair, which is less efficient. (C)</p> Signup and view all the answers

Which of the following best describes alkylating agents?

<p>They induce nucleotide alterations that can lead to mutations. (C)</p> Signup and view all the answers

What type of mutation is often associated with the action of intercalating agents?

<p>Frameshift mutations due to insertion or deletion (B)</p> Signup and view all the answers

Which of the following can result from the action of deaminating agents on cytosine?

<p>Conversion of cytosine to uracil (A)</p> Signup and view all the answers

What is the approximate frequency of DNA lesions occurring in human cells daily?

<p>20,000 - 50,000 lesions per cell per day (B)</p> Signup and view all the answers

Flashcards

DNA Mutation

A permanent change in the nucleotide sequence of a DNA molecule.

Spontaneous Mutations

Mutations that arise from errors during DNA replication.

Replication Errors

DNA polymerases can make mistakes during replication, leading to changes in the DNA sequence.

Strand-Slippage

A type of replication error where the DNA polymerase slips and inserts or deletes nucleotides, often in regions with repeated sequences.

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Tautomeric Shift

A temporary shift in the chemical structure of a base, causing it to pair incorrectly with another base during replication.

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Tautomers

Isomers with slightly different chemical structures.

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Mutation

A permanent change in the DNA sequence.

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Mutagens

Chemical or environmental agents causing changes in DNA.

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Base analog

A chemical that resembles a normal nucleotide base.

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5-Bromouracil (5bU)

A base analog that can be incorporated into DNA instead of thymine.

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Deamination

A chemical process that changes the structure of a nucleotide.

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Nitrous acid

An example of a deaminating agent, changing adenine to hypoxanthine.

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Alkylating agents

Chemicals that add alkyl groups to DNA, causing mutations.

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Intercalating agents

A type of mutagen that inserts between base pairs of DNA, causing mutations.

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What is an AP site?

A purine (adenine or guanine) or pyrimidine (cytosine or thymine) base is lost from the DNA molecule, leaving an empty space in the DNA chain.

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What are intercalating agents?

They can cause DNA damage by inserting themselves between base pairs, distorting the DNA structure and interfering with replication and transcription. Examples include ethidium bromide.

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What are alkylating agents?

These agents add alkyl groups to DNA bases, altering their structure and pairing properties. Examples include ethylmethane sulfonate (EMS).

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What are thymine dimers?

Ultraviolet radiation can cause adjacent thymine bases to form a dimer, known as a thymine dimer. These dimers disrupt DNA replication and transcription.

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What happens when cytosine is deaminated?

This results in the formation of a uracil base instead of cytosine. Uracil pairs with adenine instead of guanine, leading to a mutation.

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Mismatch repair

Involves various proteins that recognize and repair mismatched bases in DNA, preventing mutations during DNA replication.

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Nonhomologous end joining

A DNA repair pathway that joins broken ends of DNA strands, often resulting in some loss of genetic information.

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Xeroderma pigmentosum (XP)

A rare genetic disorder caused by defects in DNA repair mechanisms, leading to a high susceptibility to skin cancer and other health problems.

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Telomeres

Specialized structures at the ends of chromosomes that prevent the loss of genetic information during DNA replication.

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MutS like proteins

A protein complex that recognizes mismatched bases in DNA during replication in humans.

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Direct Repair

A mechanism of DNA repair where a specific enzyme directly removes a damaged nucleotide, restoring the original sequence.

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Excision Repair

The process of removing a damaged nucleotide or a longer sequence of DNA containing the damage, followed by resynthesis of the correct sequence.

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Base Excision Repair

A type of excision repair where only a single damaged base is removed from the DNA strand.

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Nucleotide Excision Repair

A type of excision repair where a larger segment of DNA containing the damaged bases is removed.

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Nonhomologous End Joining (NHEJ)

This pathway repairs double strand breaks by bringing broken ends together, sometimes with a loss of genetic information.

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Diseases Caused by Defective DNA Repair

Genetic conditions that arise due to deficiencies in various DNA repair pathways, leading to increased susceptibility to mutations and diseases.

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Why is DNA Repair Important?

A critical cellular process for maintaining the integrity of the genome by correcting DNA damage caused by various agents.

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What is base excision repair?

A DNA repair pathway in E. coli that starts by removing a damaged base with a DNA glycosylase enzyme.

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What is nucleotide excision repair?

A specific type of repair pathway in E. coli that removes a damaged DNA segment containing the damaged nucleotide and then resynthesizes the removed section with the correct sequence.

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What is mismatch repair?

The process of correcting mismatches in DNA sequences that occur during DNA replication. In E. coli, the parent strand is distinguished from the daughter strand by its methylation.

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What is UvrABC endonuclease?

The enzyme involved in nucleotide excision repair in E. coli. It acts like a pair of molecular scissors, cutting out the damaged DNA segment.

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What does the MutS enzyme do in E. coli?

This enzyme recognizes incorrect nucleotide pairings during mismatch repair.

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What does the MutH enzyme do in E. coli?

The enzyme that cuts the newly synthesized DNA strand near the mismatch during mismatch repair.

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What is the replication period?

A period of time during which DNA replication is occurring in E. coli. Mismatch repair happens during this period.

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Study Notes

DNA Mutation Causes

  • A mutation is a change in the nucleotide sequence of a DNA molecule.
  • Mutations can occur due to errors during DNA replication or from mutagens.

Spontaneous Mutations

  • Some mutations result from errors during DNA replication.
  • These errors are called spontaneous mutations.
  • DNA polymerases typically have proofreading abilities to prevent errors, but sometimes mistakes still occur.
  • Strand slippage is a type of replication error.
  • This is particularly common in regions with repeating sequences. Replication errors can cause either an extra nucleotide or a missing nucleotide on the new DNA strand.
  • Base tautomerism, where a base exists in a different isomeric form, can also cause errors by pairing with the incorrect base during replication. The altered base pairs with a different base than it normally would, leading to a mutation.

Mutagens and Their Effects

  • Mutagens (chemical or environmental agents) change DNA structures.
  • Base analogs (like 5-bromouracil) mimic natural bases, causing incorrect base pairings and mutations during replication. 5-bromouracil is a thymine analog and can pair with adenine instead of thymine. The enol form of 5-bromouracil is more common and incorrectly pairs with guanine.
  • Deaminating agents (like nitrous acid and sodium bisulphite) alter some nucleotide structures, causing mispairing. Deamination of adenine produces hypoxanthine which pairs with cytosine instead of thymine. Cytosine deamination produces uracil, pairing with adenine instead of guanine. Guanine deamination creates xanthine, which blocks DNA replication.
  • Alkylating agents (e.g. ethylmethane sulphonate) add alkyl groups to nucleotides, leading to transition mutations.
  • Intercalating agents (e.g. ethidium bromide) insert between base pairs, causing insertion mutations.
  • Ultraviolet radiation causes base dimerization (e.g., thymine dimers), which alters DNA structure.
  • Heat causes detachment of bases which can cause an AP site. An AP site is an apurinic/apyrimidinic site, also known as an abasic site.

Damage Repair

  • Understanding DNA damage is vital for prevention and repair mechanisms.
  • The specific type and magnitude of DNA damage influence repair efficiency.
  • Repair mechanisms exist for different types of DNA damage. Examples include direct repair, excision repair (base and nucleotide), mismatch repair, and non-homologous end joining. These each have specific steps.

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