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Related Concept Videos

Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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Mismatch Repair01:20

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Measuring Microbial Mutation Rates with the Fluctuation Assay
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Evolution of Local Mutation Rate and Its Determinants.

Nadezhda V Terekhanova1,2, Vladimir B Seplyarskiy1, Ruslan A Soldatov1,2

  • 1Sector for Molecular Evolution, Institute for Information Transmission Problems of the RAS (Kharkevich Institute), Moscow, Russia.

Molecular Biology and Evolution
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Mutation rates are similar in humans and apes but diverge in more distant species. Changes in local genomic features, especially recombination rates, partially explain these differences, revealing insights into mutation rate evolution.

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Area of Science:

  • Genomics
  • Molecular Evolution
  • Population Genetics

Background:

  • Mutation rate variation exists across the human genome, influenced by local DNA properties.
  • Inter-species differences in mutation rates at orthologous regions are observed, but their causes remain unclear.

Purpose of the Study:

  • To investigate the drivers of mutation rate variation across different species.
  • To predict substitution rates in non-human mammals using human genomic data.

Main Methods:

  • Utilized data on human-chimpanzee divergence, human rare polymorphisms, and human de novo mutations.
  • Predicted substitution rates at orthologous regions in non-human mammals.

Main Results:

  • Local mutation rates are highly conserved between humans and apes, suggesting a significant cryptic component.
  • Mutation rate similarity decreases with evolutionary distance, partially explained by changes in local genomic features like recombination rate.
  • The cryptic component of mutation rate appears more transient than known genomic features.

Conclusions:

  • Local genomic features, particularly recombination rate, play a role in shaping mutation rate evolution across species.
  • A cryptic, ephemeral component significantly influences mutation rate variation over longer evolutionary timescales.