DNA Mutation and Evolution Impact

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Questions and Answers

What is the ultimate source of genetic variations?

  • Gene flow
  • Natural selection
  • Mutation (correct)
  • Genetic drift

Which of the following factors can lead to mutations?

  • Environmental changes
  • Exposure to radiation (correct)
  • Natural selection
  • Genetic recombination

How often is a nucleotide pair changed in DNA sequences over a million years?

  • One in a thousand (correct)
  • One in ten
  • One in a hundred
  • One in twenty

Which of the following describes the relationship between mutations and evolutionary change?

<p>Mutations are essential for introducing variation that can affect survival. (A)</p> Signup and view all the answers

What is NOT a specific type of DNA mutation?

<p>Natural selection (C)</p> Signup and view all the answers

What is the significance of mutations in relation to disease states in cells?

<p>Mutations can cause normal cells to become disease states. (D)</p> Signup and view all the answers

Which of the following is a consequence of accumulating mutations over time?

<p>Increased genetic diversity within populations. (D)</p> Signup and view all the answers

Which aspect of mutation relates to its role in evolution?

<p>Mutations provide raw material for natural selection. (D)</p> Signup and view all the answers

What is one possible fate of duplicated genes besides loss-of-function mutations?

<p>Both copies remain functional while diverging. (D)</p> Signup and view all the answers

What primarily causes gene duplications in yeast?

<p>Spontaneous replication errors. (C)</p> Signup and view all the answers

Which of the following terms refers to the creation of mutations or changes in genetic material?

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

What is the relationship between duplications and differences between species?

<p>Duplications create more differences than single-nucleotide substitutions. (C)</p> Signup and view all the answers

What is subfunctionalization in the context of duplicated genes?

<p>Each duplicate adapts to perform a part of the original function. (B)</p> Signup and view all the answers

Which of the following is an example of a spontaneous mutation?

<p>Errors made during DNA replication. (D)</p> Signup and view all the answers

What term describes the process by which duplicated genes acquire new functions?

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

Comparatively, how do duplications affect evolutionary changes in species?

<p>They promote gradual evolutionary variations. (D)</p> Signup and view all the answers

What is a characteristic feature of intercalating agents?

<p>They insert themselves between adjacent bases. (A)</p> Signup and view all the answers

Which of the following is classified as a base modifying agent?

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

What type of DNA damage is associated with UV radiation?

<p>Cyclobutane pyrimidine dimers (B)</p> Signup and view all the answers

Which agent generates apurinic sites in DNA?

<p>Aflatoxin B1 (A)</p> Signup and view all the answers

What is the primary effect of alkylating agents like EMS and MMS on DNA?

<p>Addition of methyl or ethyl groups (C)</p> Signup and view all the answers

Which of the following pairs represents two types of lesions caused by UV radiation?

<p>Cyclobutane pyrimidine dimers and 6-4 photoproducts (C)</p> Signup and view all the answers

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

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

What does the oxidation of benzo[a]pyrene in DNA typically cause?

<p>Apurinic sites generation (C)</p> Signup and view all the answers

What are kataegis associated with in breast cancer?

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

Which chromosomes are known to contain mutation hot spots referred to as kataegis?

<p>Chromosome 17 and 22 (C)</p> Signup and view all the answers

What percentage of the human genome consists of multispecies conserved sequences?

<p>5% (B)</p> Signup and view all the answers

What is the average size of exons found in the genome?

<p>145 nucleotide pairs (D)</p> Signup and view all the answers

What type of mutations involve substitutions of one base pair for another?

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

Which type of DNA sequence is less likely to be critical for function?

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

How do genome sequences of two species differ?

<p>In proportion to the length of time since they evolved separately (B)</p> Signup and view all the answers

What type of genetic alterations can transposable DNA elements cause?

<p>Disruption of existing genes and creation of novel genes (B)</p> Signup and view all the answers

Which of the following is considered a large-scale genome rearrangement?

<p>Deletion of DNA segments (A)</p> Signup and view all the answers

What is the principle behind understanding the function of DNA sequences?

<p>Functional sequences are more likely to be conserved (B)</p> Signup and view all the answers

What is the result of purifying selection in fish genomes?

<p>Retention of functionally important DNA sequences (B)</p> Signup and view all the answers

What is the significance of the 500 conserved sequences deleted in humans?

<p>They contribute to the evolutionary process. (D)</p> Signup and view all the answers

How does gene duplication contribute to evolutionary change?

<p>It allows gene copies to take on new functions. (D)</p> Signup and view all the answers

What defines a pseudogene?

<p>A non-functional gene due to mutations. (B)</p> Signup and view all the answers

Which of the following is NOT a consequence of gene duplication?

<p>Loss of functional genes (B)</p> Signup and view all the answers

What average length of sequence is removed by a deletion in conserved human sequences?

<p>95 nucleotides (A)</p> Signup and view all the answers

What role does mutation play in evolution?

<p>It is the ultimate source of genetic variation. (C)</p> Signup and view all the answers

What is the primary function of the globin gene family in evolutionary terms?

<p>To showcase how DNA duplications lead to new proteins (D)</p> Signup and view all the answers

What role does purifying selection play in evolution?

<p>It eliminates individuals carrying detrimental mutations. (A)</p> Signup and view all the answers

Which category of DNA sequences generally have molecular clocks that run most rapidly?

<p>Functionally unconstrained mitochondrial DNA sequences. (D)</p> Signup and view all the answers

Why are rodent lineages expected to diverge rapidly from other lineages?

<p>They have unusually fast molecular clocks. (D)</p> Signup and view all the answers

What does the comparison of synteny regions between human and mouse genomes suggest?

<p>Small DNA sequence blocks have been lost or rearranged over time. (A)</p> Signup and view all the answers

What primarily affects the molecular clock in animal lineages?

<p>The degree of purifying selection and mutation rate. (B)</p> Signup and view all the answers

How is DNA added to genomes during evolution?

<p>By insertion of new copies of active transposons and duplications. (A)</p> Signup and view all the answers

How does genome size correlate with DNA addition and loss in vertebrates?

<p>Rates of addition and loss inform the overall size of a genome. (D)</p> Signup and view all the answers

What is a significant characteristic of the mutation rate in animal mitochondria?

<p>It has an exceedingly high mutation rate. (A)</p> Signup and view all the answers

Which statement is true regarding evolutionary relationships traced from nucleotide sequence data?

<p>They offer a more reliable guide to the structure of phylogenetic trees. (B)</p> Signup and view all the answers

What implication does rapid deletion and addition of DNA sequences have on genomes?

<p>It reflects a dynamic and changing genetic landscape. (B)</p> Signup and view all the answers

Flashcards

DNA Mutation

A permanent change in the DNA sequence that can alter an organism's traits.

Source of Genetic Variation

Mutations are the primary source of differences in genes between individuals.

Impact of Mutation

Mutations can lead to different traits, diseases, and also contribute to evolution.

Evolutionary Process

Evolution relies on mistakes in DNA, followed by the survival of advantageous traits.

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Mutation Frequency

Changes in DNA are relatively rare, with only one nucleotide pair changing every million years.

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Genetic Fidelity

Despite rare changes, DNA is typically copied with accuracy.

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Genome Changes

Mutations can influence the complete genetic makeup of an organism.

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Genetic Variations

Mutations provide the raw materials for diversity among individuals of a species.

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Gene Duplication

The process where a segment of DNA containing a gene is copied, resulting in two identical genes within a genome. This is a key mechanism for creating genetic diversity.

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5-BU and 2-AP

These are base analogs that resemble normal DNA bases but can pair with incorrect bases during replication, leading to mutations.

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Gene Divergence

After duplication, genes can evolve independently, leading to changes in their function or expression. One copy may accumulate mutations, while the other maintains the original function.

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Subfunctionalization

When a duplicated gene loses a portion of its original function, and the other copy also loses a portion, but they complement each other to maintain the original function.

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Alkylating Agents

Chemicals that add methyl (Me) or ethyl (Et) groups to DNA bases, altering their structure and affecting base pairing.

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Neofunctionalization

One copy of a duplicated gene acquires a completely new function, while the other copy retains the original function.

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EMS and MMS

Examples of alkylating agents that specifically target guanine (G) bases, increasing the chance of G-to-A mutations.

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Spontaneous Replication Errors

Mistakes that naturally occur during the process of copying DNA, leading to changes in the genetic sequence. These errors are the source of many mutations.

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Intercalating Agents

Flat molecules that insert themselves between DNA bases, distorting the helix and causing errors during replication.

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Proflavin, Acridine Orange, ICR Compounds

Examples of intercalating agents that can induce mutations, particularly frameshift mutations.

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DNA Polymerase Errors

The enzymes responsible for replicating DNA sometimes insert the wrong nucleotide or add too many or too few nucleotides, leading to changes in the DNA sequence.

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Double-Strand Break Repair

A type of DNA damage repair which can lead to gene duplications. This happens when both strands of the DNA molecule are broken, and during the repair process, extra copies of the DNA can be inserted.

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UV Radiation

A physical mutagen that generates photoproducts in DNA, primarily cyclobutane pyrimidine dimer and 6-4 photoproduct.

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Cyclobutane Pyrimidine Dimer

A photoproduct formed by UV radiation, where two adjacent pyrimidine bases (C or T) are linked together.

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Evolutionary Impact of Duplications

Gene duplications are a major driving force of evolution. They provide raw material for new genes and functions, leading to adaptation and diversification of species.

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6-4 Photoproduct

Another photoproduct formed by UV radiation, where a different type of bond forms between adjacent pyrimidines.

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Kataegis

A specific type of mutation cluster found in breast cancer, associated with reduced invasiveness and improved prognosis.

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Genome Comparisons

Comparing genomes of different species reveals functional DNA sequences by observing their conservation throughout evolution.

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Exons

Regions of the genome that code for the amino acid sequences of proteins.

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Conserved Regions

DNA sequences that are highly similar between different species, indicating functional importance.

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Nonconserved Regions

DNA sequences that vary significantly between species, suggesting less critical function.

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Genome Alterations

Changes in the genome caused by errors in DNA copying, maintenance or due to transposable DNA elements.

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Transposable DNA Elements

Parasitic DNA sequences that copy themselves and insert into different locations in the genome, causing disruptions or new gene fusions.

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Point Mutations

Single base pair substitutions in the DNA sequence, causing alterations in the genetic code.

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Large-Scale Genome Rearrangements

Major changes in the genome involving large-scale deletions, duplications, inversions or translocations of DNA segments.

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Phylogenetic Tree

A branching diagram that illustrates evolutionary relationships between different species based on their genome sequences.

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Genome Cleansing

The process where a genome eliminates DNA sequences that are not essential for its function, resulting in a more compact genome.

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Purifying Selection

A process where natural selection favors organisms with beneficial mutations, eliminating those with harmful mutations.

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Pseudogene

A copy of a duplicated gene that has become inactive due to mutations.

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Duplicate Genes Diverge

After duplication, genes can evolve independently, leading to changes in their function or expression.

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Globin Gene Family

A group of genes responsible for producing proteins that bind oxygen in the blood, demonstrating how DNA duplication generates new proteins.

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Mutation

A permanent change in the DNA sequence that can alter an organism's traits.

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Evolutionary Novelty

Gene duplication provides a significant source of new genetic material, leading to the development of novel traits and functions during evolution.

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Molecular Clock

A tool used to estimate evolutionary time based on the rate of mutations in DNA sequences.

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What influences molecular clock speed?

The speed of a molecular clock is influenced by the degree of purifying selection and the mutation rate.

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Why are mitochondrial DNA sequences useful for evolutionary studies?

Mitochondrial DNA sequences evolve faster in animals, making them valuable for studying recent evolutionary events.

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How do genomes expand?

Genomes expand through small blocks of DNA insertions and duplications of chromosomal segments, often involving transposons.

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How do genomes shrink?

Genomes shrink through the loss of small DNA blocks, a process observable in the human and mouse genomes.

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What influences vertebrate genome size?

The balance between DNA addition and DNA loss determines the size of a vertebrate genome.

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What is the evolutionary significance of genome size variation?

Variations in genome size reflect the unique evolutionary history of different lineages, highlighting key events like gene duplications or deletions.

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How can we trace evolutionary relationships?

By analyzing and comparing gene or protein sequences, we can trace the relationships between all living organisms.

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Study Notes

DNA Mutation and its Impact on Evolution

  • Mutations are changes in DNA, often associated with superhero stories, but also present in natural evolution.
  • Mutations are the ultimate source of genetic variations, explaining life diversity and normal/disease states.
  • Specific topic outcomes (at the end of the module): be able to describe DNA mutations and their causes, enumerate specific mutation types, and evaluate mutation significance on genome changes and evolution.
  • Key resource: "Molecular Biology of the Cell," 6th edition, Alberts et al. (2015) -- chapters 4 and 5 are particularly relevant.
  • Online resources are available to delve deeper: links to Khan Academy for genetic mutations, impact of mutations on translation, and the nature education scitable site on genetic mutations.
  • Further explore relevant resources from NCBI for the maintenance of DNA sequences.

How Genome Evolved?

  • Evolution depends on mistakes and accidents followed by non-random survival. DNA sequences typically remain constant with errors being infrequent: only a single nucleotide pair is changed every million years.
  • Mutation is defined as any heritable change in DNA (replication, recombination, or repair).
  • Changes can range from local sequence modifications to substantial genome rearrangements. These can be harmful or, in certain cases, beneficial to organisms.

Types of Mutation (Point Mutations)

  • Base substitutions are the simplest form; a single nucleotide is swapped for another.

    • Transitions: swap one purine (A-G) for another or one pyrimidine (T-C) for another.
    • Transversions: swap a purine for a pyrimidine.
    • Point mutations within DNA sequences may result in silent (no amino acid change), missense (different amino acid), or nonsense (stop codon).
    • Missense mutations can be conservative (unaltered protein function) or non-conservative (changed protein function).
  • Deletions occur when one or more base pairs are lost from the DNA. This frequently results in frameshift mutations.

  • Insertions occur when one or more base pairs are added; this also frequently causes frameshift mutations.

Types of Mutations (Chromosomal Mutations)

  • Inversions: chromosomal segments reverse orientation.
  • Translocations: DNA segments move-to a new location (on a different chromosome).
  • Duplications: genes are repeated, often leading to divergence and new functions, potentially leading to variations between species.

Spontaneous Mutations (Errors)

  • DNA replication errors; spontaneous mistakes; naturally occurring spontaneous processes.
    • Tautomeric shifts: a base's rare form results in mismatched base pairs during replication
    • Base-pair slippage: repeated sequences can cause segments to be either repeated or deleted.
    • Deamination: amino groups lost.
    • Depurination: a purine nucleotide is lost; a nucleotide is removed from DNA during replication.

Induced Mutations (External Agents)

  • Chemical mutagens: some compounds that are strikingly similar to natural bases.
    • Base analogs: act like normal bases, causing base pair errors.
    • Base modifiers: chemically alter DNA bases, affecting base pairing.
  • Intercalating agents: chemicals that insert between bases, altering DNA structure (frameshift mutations).
  • Physical mutagens: radiation(affect molecular structures within DNA)
    • UV radiation: forms thymine dimers (adjacent thymine bases connecting)
    • Ionizing radiation: creates double-stranded breaks in DNA.
  • Biological mutagens: agents that disrupt genetic function by insertion (viruses and transposable elements)

Other Concepts

  • Kataegis: mutation hotspots in certain regions of the human genome that may show significance in cancer or in other diseases.
  • Genome Comparisons: can reveal evolutionary relationships via comparisons of gene or protein sequences, identifying similar and different sections.
  • Genome Alterations: can be caused by errors in DNA copying or transposable elements (affecting their structure, function, and interactions).

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