Gene Mutation and DNA Repair Quiz

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Questions and Answers

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?

  • 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?

  • 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?

<p>They can cause changes in the DNA structure. (B)</p> Signup and view all the answers

Which of the following statements about tautomeric shifts is true?

<p>They are induced by reactive oxygen species produced in metabolism. (B)</p> Signup and view all the answers

What type of mutation involves the loss of all or part of a chromosome?

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

Which of the following best describes 'position effect'?

<p>A gene remains intact but its expression is altered due to a change in location. (D)</p> Signup and view all the answers

What are germ-line cells responsible for?

<p>Giving rise to gametes like eggs and sperm (C)</p> Signup and view all the answers

What can cause induced mutations?

<p>Environmental agents known as mutagens (C)</p> Signup and view all the answers

Which type of chromosomal mutation results from a gene moving close to regulatory sequences of another gene?

<p>Position effect (B)</p> Signup and view all the answers

What type of mutation can cause changes in the number or structure of chromosomes?

<p>Chromosomal mutations (D)</p> Signup and view all the answers

What happens when a chromosomal rearrangement alters the expression of a gene?

<p>The gene may malfunction, but stays intact. (A)</p> Signup and view all the answers

What can aberrant recombination during meiosis potentially cause?

<p>Aneuploidy or polyploidy (C)</p> Signup and view all the answers

What type of mutation involves a substitution of a single base pair?

<p>Point mutation (B)</p> Signup and view all the answers

Which mutation is characterized by a change from a purine to a pyrimidine?

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

What is the major consequence of a nonsense mutation?

<p>It produces a truncated polypeptide. (A)</p> Signup and view all the answers

Which type of mutation is most likely to produce a completely different amino acid sequence downstream?

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

Which type of effect does an up promoter mutation have on transcription?

<p>Enhances the rate of transcription (A)</p> Signup and view all the answers

What kind of mutation does NOT alter protein function?

<p>Neutral mutation (A)</p> Signup and view all the answers

What is the effect of a deleterious mutation?

<p>Lowers chance of survival and reproduction (D)</p> Signup and view all the answers

Which type of mutation might provide a survival advantage in the presence of malaria?

<p>Beneficial mutation (B)</p> Signup and view all the answers

Which of the following mutations alters the stability of RNA but does not change the amino acid sequence?

<p>Regulatory element mutation (B)</p> Signup and view all the answers

What is a characteristic of frameshift mutations?

<p>They shift the reading frame downstream from the mutation. (D)</p> Signup and view all the answers

What type of radiation is capable of penetrating deeply into biological materials?

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

Which type of radiation is primarily responsible for the formation of thymine dimers in DNA?

<p>UV light (A)</p> Signup and view all the answers

What is the first step in the DNA repair process?

<p>An irregularity in DNA structure is detected (B)</p> Signup and view all the answers

Which DNA repair system involves removing a segment of DNA and using the complementary strand as a template?

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

Which repair mechanism is specifically used for repairing double-strand breaks in DNA?

<p>Nonhomologous end joining (B)</p> Signup and view all the answers

Which type of DNA alteration can ionizing radiation cause?

<p>Base deletions (B)</p> Signup and view all the answers

What is the main characteristic that distinguishes nonionizing radiation from ionizing radiation?

<p>It has longer wavelengths. (C)</p> Signup and view all the answers

What effect does tanning have on DNA concerning UV light exposure?

<p>It increases potential for thymine dimers. (C)</p> Signup and view all the answers

What is the result of deamination of cytosine?

<p>It produces uracil. (A)</p> Signup and view all the answers

What problem arises from deamination of 5-methylcytosine?

<p>It produces thymine, making detection difficult. (C)</p> Signup and view all the answers

Which of the following is a chemical mutagen that acts as a base analog?

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

What effect do alkylating agents have on DNA?

<p>They attach methyl or ethyl groups to bases. (C)</p> Signup and view all the answers

What occurs during a tautomeric shift of thymine or guanine?

<p>They change from keto to enol forms. (C)</p> Signup and view all the answers

How do physical mutagens generally affect DNA?

<p>They lead to crosslinking and chromosomal breaks. (A)</p> Signup and view all the answers

What is a characteristic of intercalating agents?

<p>They distort the helical structure of DNA. (D)</p> Signup and view all the answers

Which of the following describes base modifiers?

<p>They covalently modify the structure of nucleotides. (B)</p> Signup and view all the answers

What could be a consequence if uracil is not repaired in DNA?

<p>It can result in a mutation during replication. (C)</p> Signup and view all the answers

5-Bromouracil can lead to mutations by pairing incorrectly due to what process?

<p>Tautomeric shifts in its structure. (D)</p> Signup and view all the answers

What enzyme is specifically known for repairing thymine dimers through photoreactivation?

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

Which DNA repair mechanism is capable of fixing missing bases and cross-links?

<p>Nucleotide Excision Repair (C)</p> Signup and view all the answers

Which of the following proteins is NOT part of the Nucleotide Excision Repair system in E. coli?

<p>DNA helicase (C)</p> Signup and view all the answers

Inherited defects in genes involved in Nucleotide Excision Repair are associated with which of the following diseases?

<p>Xeroderma pigmentosum (B)</p> Signup and view all the answers

What triggers the mismatch repair system to correct base pair mismatches in DNA?

<p>Proofreading failure by DNA polymerase (A)</p> Signup and view all the answers

Mismatch repair systems are present in which of the following organisms?

<p>All species (C)</p> Signup and view all the answers

Which proteins in E. coli are primarily responsible for recognizing and removing damaged DNA during NER?

<p>UvrA, UvrB, UvrC, UvrD (A)</p> Signup and view all the answers

What is the primary cause of base pair mismatches during DNA replication?

<p>Insertion of incorrect bases (D)</p> Signup and view all the answers

Flashcards

Point Mutation

A change in a single base pair of DNA.

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

A point mutation where a pyrimidine is replaced by a purine, or vice versa.

Frameshift Mutation

A mutation that occurs due to the addition or deletion of nucleotides in numbers other than multiples of 3, shifting the reading frame downstream.

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Silent Mutation

A mutation that does not change the amino acid sequence of a protein.

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Missense Mutation

A mutation that changes the amino acid sequence of a protein.

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Nonsense Mutation

A mutation that changes a codon specifying an amino acid to a stop codon.

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Deletions

A mutation involving the loss of DNA nucleotides.

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Beneficial Mutation

A mutation that enhances an organism's survival or reproduction.

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Neutral Mutation

A mutation that does not affect the function of a protein.

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Chromosomal mutations

Changes in the number or structure of chromosomes, altering gene locations or copy numbers.

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Types of chromosomal mutations

Deletion, duplication, inversion, and translocation are four ways chromosomes can change.

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Deletion (mutation)

Loss of part of a chromosome, leading to missing genetic information.

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Position effect

A gene's expression changes due to its new location on a chromosome.

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Spontaneous mutations

Mutations happening naturally due to errors during DNA processes or biological abnormalities.

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Induced mutations

Mutations caused by environmental factors, like mutagens.

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Germ-line cells

Cells that make gametes (eggs and sperm).

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Somatic cells

All body cells except gametes.

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Depurination

A common spontaneous DNA change where a purine base (adenine or guanine) breaks its link to the sugar, creating an apurinic site.

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Apurinic Site

A location in DNA where a purine base is missing after depurination.

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Deamination

Spontaneous chemical change in a DNA base that could cause a mutation if not repaired.

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Tautomeric Shift

A temporary change in the structure of a DNA base, potentially leading to incorrect base pairing during replication.

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Ionizing Radiation

A type of radiation with high energy and short wavelength, capable of penetrating biological materials and causing damage by creating free radicals.

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Free Radicals

Highly reactive molecules formed by ionizing radiation, which can damage DNA by causing base deletions, single-strand and double-strand breaks, and cross-linking.

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Nonionizing Radiation

A type of radiation with lower energy and longer wavelength, unable to penetrate deeply into biological materials, but can cause the formation of thymine dimers.

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Thymine Dimers

Abnormal pairs of thymine bases in DNA caused by nonionizing radiation, which can lead to mutations during DNA replication.

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DNA Repair

A series of cellular processes that fix damage to DNA, involving detection, removal of damaged sections, and synthesis of new DNA.

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Base Excision Repair

A DNA repair system that removes an abnormal base or nucleotide and replaces it with a correct one.

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Nucleotide Excision Repair

A DNA repair system that removes a segment of DNA containing an abnormal nucleotide, using the complementary strand as a template to synthesize a correct replacement.

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Mismatch Repair

A DNA repair system that fixes mismatched base pairs in DNA, using the parental strand as a template to synthesize a correct copy.

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Uracil in DNA

Uracil is an unnatural base found in RNA, not DNA. Its presence in DNA usually indicates a deamination event.

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5-methylcytosine

A modified form of cytosine that can also undergo deamination, but produces thymine instead of uracil.

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Keto vs. Enol

Thymine and guanine switch from their common keto form to a rare enol form, causing mispairing.

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Mutagens

Agents that cause permanent changes to DNA structure.

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Chemical Mutagens

Chemicals that alter DNA structure, often by modifying bases or intercalating in the DNA helix.

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Base Modifiers

Chemicals that change the structure of a nucleotide by adding or removing groups, like nitrous acid.

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Alkylating Agents

Chemicals that attach alkyl groups (like methyl or ethyl) to bases, disrupting pairing.

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Intercalating Agents

Chemicals that wedge themselves between DNA base pairs, distorting the helix and causing insertions or deletions during replication.

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DNA Repair: What's the first step?

The first step in DNA repair is recognizing and stabilizing the broken ends of the DNA molecule.

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Direct Repair: What's the enzyme?

Direct Repair is a specific type of DNA repair where enzymes directly reverse the damage. Photolyase is an example, which repairs thymine dimers using light.

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Nucleotide Excision Repair: What does it repair?

Nucleotide Excision Repair (NER) removes damaged DNA segments, including thymine dimers, chemically modified bases, and missing bases. It's found in most living things.

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NER Proteins: What are Uvr proteins?

UvrA, UvrB, UvrC, and UvrD are key proteins in NER in bacteria. They work together to recognize and remove damaged DNA segments.

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Diseases and NER Genes: What are XP and CS?

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are human diseases caused by defects in NER genes. These diseases make people very sensitive to sunlight.

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Mismatch Repair: What's the main challenge?

During DNA replication, sometimes an incorrect base (mismatch) is added to the growing strand. Mismatch repair fixes these errors.

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Mismatch Repair and Proofreading: How do they work?

DNA polymerases have a built-in proofreading function, but if they miss any errors, mismatch repair systems come into play to fix base mismatches.

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Mismatch Repair and Cancer: What's the connection?

Mismatch repair systems are essential for maintaining DNA stability. Mutations in these systems are linked to certain types of cancer.

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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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