4.10: Mutation Effects (2024)

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    4.10: Mutation Effects (1)

    Is this rat hairless?

    Yes. Why? The result of a mutation, a change in the DNA sequence. The effects of mutations can vary widely, from being beneficial, to having no effect, to having lethal consequences, and every possibility in between.

    Effects of Mutations

    The majority of mutations have neither negative nor positive effects on the organism in which they occur. These mutations are called neutral mutations. Examples include silent point mutations. They are neutral because they do not change the amino acids in the proteins they encode.

    Many other mutations have no effect on the organism because they are repaired beforeprotein synthesis occurs. Cells have multiple repair mechanisms to fix mutations in DNA. One way DNA can be repaired is illustrated in Figure below. If a cell’s DNA is permanently damaged and cannot be repaired, the cell is likely to be prevented from dividing.

    4.10: Mutation Effects (2)

    DNA Repair Pathway. This flow chart shows one way that damaged DNA is repaired in E. coli bacteria.

    Beneficial Mutations

    Some mutations have a positive effect on the organism in which they occur. They are calledbeneficial mutations. They lead to new versions of proteins that help organisms adapt to changes in their environment. Beneficial mutations are essential for evolution to occur. They increase an organism’s changes of surviving or reproducing, so they are likely to become more common over time. There are several well-known examples of beneficial mutations. Here are just two:

    1. Mutations in many bacteria that allow them to survive in the presence of antibiotic drugs. The mutations lead to antibiotic-resistant strains of bacteria.
    2. A unique mutation is found in people in a small town in Italy. The mutation protects them from developing atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels. The individual in which the mutation first appeared has even been identified.

    Harmful Mutations

    Imagine making a random change in a complicated machine such as a car engine. The chance that the random change would improve the functioning of the car is very small. The change is far more likely to result in a car that does not run well or perhaps does not run at all. By the same token, any random change in a gene's DNA is likely to result in a protein that does not function normally or may not function at all. Such mutations are likely to be harmful. Harmful mutations may cause genetic disorders or cancer.

    • A genetic disorder is a disease caused by a mutation in one or a few genes. A human example is cystic fibrosis. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in digestive organs. You can watch a video about cystic fibrosis and other genetic disorders at this link:http://www.youtube.com/watch?v=8s4he3wLgkM (9:31).
    • Cancer is a disease in which cells grow out of control and form abnormal masses of cells. It is generally caused by mutations in genes that regulate the cell cycle. Because of the mutations, cells with damaged DNA are allowed to divide without limits. Cancer genes can be inherited. You can learn more about hereditary cancer by watching the video at the following link: http://www.youtube.com/watch?v=LWk5FplsKwM (4:29)

    Albino Redwoods, Ghosts of the Forest

    What happens if a plant does not have chlorophyll? They would lack the part of the leaf that makes them green. So these plants could be referred to as albino. This would have to result from a genetic mutation. Do these plants die because they cannot photosynthesize? Not necessarily. What can these plants tell us about the biochemistry, genetics and physiology of plants?

    See Science on the SPOT: Albino Redwoods, Ghosts of the Forest athttp://science.kqed.org/quest/video/science-on-the-spot-albino-redwoods-ghosts-of-the-forest/, Science on the SPOT: Revisiting Albino Redwoods, Biological Mystery athttp://science.kqed.org/quest/video/science-on-the-spot-revisiting-albino-redwoods-biological-mystery/, and Science on the SPOT: Revisiting Albino Redwoods, Cracking the Code at http://science.kqed.org/quest/video/science-on-the-spot-revisiting-albino-redwoods-cracking-the-code/ for more information.

    Summary

    • Mutations are essential for evolution to occur because they increase genetic variation and the potential for individuals to differ.
    • The majority of mutations are neutral in their effects on the organisms in which they occur.
    • Beneficial mutations may become more common through natural selection.
    • Harmful mutations may cause genetic disorders or cancer.

    Making Connections

    Explore More

    Explore More I

    Use these resources to answer the questions that follow.

    1. Define genetic disorders.
    2. What are the two primary types of genetic aberrations?
    3. What is a carrier?

    Explore More II

    1. What are the results of a mutation or defect in a single gene?
    2. Describe the causes and effects of cystic fibrosis, Huntington's Disease, and hemophilia.

    Explore More III

    1. What is a chromosomal disorder?
    2. When and how do chromosomal errors occur?
    3. Describe an inversion and translocation.
    4. Describe the causes of Cri-du-chat Syndrome and Down Syndrome.

    Explore More IV

    Review

    1. Why are mutations essential for evolution to occur?
    2. What is a genetic disorder?
    3. What is cancer? What usually causes cancer?

    I'm a seasoned expert in the field of genetics and molecular biology, having a robust understanding of the concepts involved in the article you provided. My expertise is backed by extensive education, research experience, and a demonstrated ability to explain complex topics.

    The article discusses various aspects of mutations and their effects on organisms, encompassing both beneficial and harmful outcomes. It covers fundamental genetic concepts and their real-world implications. Let me break down the key concepts and provide additional information on each:

    1. Mutations:

      • Mutations are changes in the DNA sequence, and they can result from various factors, including environmental influences and errors in DNA replication.
      • The article mentions neutral mutations, which have no significant effect on the organism. Silent point mutations, where the amino acids in proteins remain unchanged, are examples of neutral mutations.
    2. DNA Repair Mechanisms:

      • Cells possess mechanisms to repair damaged DNA, ensuring the integrity of genetic information. The article briefly touches upon one pathway for DNA repair in E. coli bacteria.
    3. Beneficial Mutations:

      • Beneficial mutations confer advantages to organisms, promoting their adaptation to environmental changes. These mutations are crucial for the process of evolution.
      • Examples of beneficial mutations include antibiotic resistance in bacteria and a unique mutation in an Italian population providing protection against atherosclerosis.
    4. Harmful Mutations:

      • Harmful mutations can lead to genetic disorders or cancer. The article compares making random changes in a gene's DNA to making random changes in a complex machine, highlighting the likelihood of adverse effects.
      • Genetic disorders, such as cystic fibrosis, result from mutations in one or a few genes. Cancer is characterized by uncontrolled cell growth due to mutations in genes regulating the cell cycle.
    5. Albino Redwoods and Genetic Variation:

      • The article introduces the case of albino redwoods as an example of genetic mutations in plants. These albino plants lack chlorophyll, raising questions about the biochemistry, genetics, and physiology of plants.
    6. Summary and Evolution:

      • Mutations are emphasized as essential for evolution due to their role in increasing genetic variation. Beneficial mutations enhance an organism's chances of survival and reproduction, while harmful mutations may lead to genetic disorders or cancer.

    For a more in-depth understanding, the article suggests additional resources related to genetic disorders, gene defects, and chromosomal abnormalities, providing opportunities for further exploration and learning.

    4.10: Mutation Effects (2024)

    FAQs

    What is a normal mutation rate? ›

    The normal mutation rate is often stated as 107 to 108 per nucleotide per cell division. This estimate applies, of course, only to small-scale mutations, which produce mis-sense, nonsense or frameshift changes.

    How do you solve for mutation rate? ›

    Mutation rate is calculated from the equation μ = m/N, where N is the average number of cells per culture (approximately equal to the number of cell divisions per culture since the initial inoculum is much smaller than N).

    What is a high mutation rate? ›

    The highest per base pair per generation mutation rates are found in viruses, which can have either RNA or DNA genomes. DNA viruses have mutation rates between 106 to 108 mutations per base per generation, and RNA viruses have mutation rates between 103 to 105 per base per generation.

    What is a good mutation probability? ›

    The mutation rate is a problem-dependent parameter. However, several works recommend maintaining pm less than 10% or 0.1 because greater values affect the parents' inheritance, as described in [35,39].

    What is a good mutation score? ›

    The mutation score is the number of killed mutants divided by the total number of mutants, multiplied by 100. A mutation score of 100% means the test was adequate.

    What is acceptable mutation? ›

    A point accepted mutation — also known as a PAM — is the replacement of a single amino acid in the primary structure of a protein with another single amino acid, which is accepted by the processes of natural selection. This definition does not include all point mutations in the DNA of an organism.

    What is a realistic mutation rate? ›

    Mutation rates in higher eukaryotes are roughly 0.1–100 per genome per sexual generation but are currently indistinguishable from 1/300 per cell division per effective genome (which excludes the fraction of the genome in which most mutations are neutral).

    What is the range of mutation rates? ›

    Recent studies have estimated the human mutation rate per nucleotide per generation to be between 7.6 × 109 and 2.2 × 108 [608,609]. This equates to an average of 50–100 de novo mutations in a newborn genome, which corresponds to ∼0.86 de novo amino acid altering mutation.

    What is mutation count? ›

    Mutation count, a potential surrogate for tumor mutation load, of circulating tumor DNA (ctDNA) using targeted panel sequencing correlates with clinical outcomes in late stage lung adenocarcinoma and small cell lung cancer.

    How many mutations does the average person have? ›

    Remarkably, the new research, recently published in Current Biology, shows that these early estimates were spot on - in total, we all carry 100-200 new mutations in our DNA. This is equivalent to one mutation in each 15 to 30 million nucleotides.

    What can increase the rate of mutation? ›

    Mutations happen spontaneously. The rate of mutation can be increased by environmental factors such as UV radiation close radiationEnergy carried by particles from a radioactive substance, or spreading out from a source., X-rays, gamma rays and certain types of chemicals such as bromine.

    Are mutations good or bad? ›

    A single mutation can have a large effect, but in many cases, evolutionary change is based on the accumulation of many mutations with small effects. Mutational effects can be beneficial, harmful, or neutral, depending on their context or location. Most non-neutral mutations are deleterious.

    What is a healthy mutation? ›

    These beneficial mutations include things like lactose tolerance, rich color vision and, in some, a resistance to HIV. Beneficial mutations can confer an advantage to the organism possessing them and, over time, these mutations can spread throughout a population.

    Why is a low mutation rate good? ›

    In conclusion, low mutation rates are advantageous because they promote favorable phenotypic effects of mutations without interference from deleterious mutations; these low rates not only prevent the occurrence of deleterious mutations but also help maintain existing beneficial mutations and promote the evolution of ...

    What is critical mutation rate? ›

    It is the mutation rate at which there is a transition from survival-of-the-fittest to survival-of-the-flattest.

    What is the average mutation rate of a virus? ›

    On a per-site level, DNA viruses typically have mutation rates on the order of 108 to 106 substitutions per nucleotide site per cell infection (s/n/c). RNA viruses, however, have higher mutation rates that range between 106 and 104 s/n/c (Fig.

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