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Mutations in Microorganisms01:18

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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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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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Rapid evolution of the human mutation spectrum.

Kelley Harris1, Jonathan K Pritchard1,2,3

  • 1Department of Genetics, Stanford University, Stanford, United States.

Elife
|April 26, 2017
PubMed
Summary
This summary is machine-generated.

Genetic mutation rates vary significantly across species and human populations, indicating they can evolve rapidly. Researchers identified a specific mutation increase in Europeans, suggesting the influence of evolving genetic modifiers.

Keywords:
DNA replication and repairHuman population structureevolutionary biologygenomicsgreat ape evolutionhumanmutagenesismutational signaturespopulation genetics

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Area of Science:

  • Genetics
  • Evolutionary Biology
  • Genomics

Background:

  • DNA replication, proofreading, and repair ensure high-fidelity genetic information storage.
  • Evolutionary theory posits limited selection against minor mutation rate changes.
  • Mutational spectra, reflecting mutation patterns, can vary significantly.

Purpose of the Study:

  • To investigate variations in mutational spectra across species and human populations.
  • To identify and analyze specific mutation rate changes within human groups.
  • To explore the evolutionary dynamics of mutation rates.

Main Methods:

  • Utilized single nucleotide variant (SNV) data as a proxy for mutational input.
  • Compared mutational spectra across different species and human continental groups.
  • Analyzed a specific mutation signal (TCC→TTC) in European populations.

Main Results:

  • Mutational spectra exhibit substantial differences among species, human continental groups, and populations.
  • An elevated TCC→TTC mutation rate was observed in Europeans.
  • This mutation increase appears to have occurred between 15,000 and 2000 years ago.

Conclusions:

  • Mutation rates can evolve significantly over relatively short evolutionary timescales.
  • The observed mutation rate variations suggest the action of evolving genetic modifiers.
  • These findings open possibilities for mapping genetic factors that influence mutation rates.