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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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The circadian—or biological—clock is an intrinsic, timekeeping, molecular mechanism that allows plants to coordinate physiological activities over 24-hour cycles called circadian rhythms. Photoperiodism is a collective term for the biological responses of plants to variations in the relative lengths of dark and light periods. The period of light-exposure is called the photoperiod.
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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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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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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Endogenous Processes Underlying Clock-Like Mutational Signatures.

Teresa Druck1, Rami I Aqeilan1,2,3, C Marcelo Aldaz4

  • 1Department of Cancer Biology and Genetics, Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA.

Genes, Chromosomes & Cancer
|January 21, 2026
PubMed
Summary
This summary is machine-generated.

Loss of fragile-site genes, like FHIT, drives specific mutational signatures (SBS5 and SBS40) linked to aging and lifespan in mammals. This inactivation contributes to lifelong mutation accumulation.

Keywords:
FhitWwoxagingcancer signaturesfragile sitesgermlinemutational signatures

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Area of Science:

  • Genomics
  • Cancer Biology
  • Evolutionary Biology

Background:

  • Over 50 single-base substitution (SBS) signatures identified in cancer genomes.
  • SBS1, SBS5, and SBS40 are linked to aging and found in normal tissues.
  • The endogenous mechanisms for SBS5 and SBS40 remain largely unknown.

Purpose of the Study:

  • To investigate the hypothesis that fragile-site gene loss drives SBS5 and SBS40.
  • To identify the specific endogenous molecular processes responsible for these mutational signatures.

Main Methods:

  • Analysis of cancer genome sequences and exome sequences from Fhit knockout mouse tissues.
  • Data mining to correlate gene loss with specific mutational signatures (SBS5, SBS40c).
  • Utilized SigProfilerAssignment for mutation signature analysis.

Main Results:

  • FHIT/FRA3B gene loss significantly correlated with human SBS5 mutations.
  • Fhit-deficient mouse tissues showed mutation profiles resembling human SBS5.
  • Fhit knockout tissues exhibited a marked increase in SBS1 and SBS5 mutations compared to wild-type.
  • Loss of WWOX alongside Fhit identified SBS40c.

Conclusions:

  • Fragile-site gene inactivation is a significant source of clock-like mutational signatures.
  • This process contributes to lifelong mutation accumulation in somatic and germ cells.
  • These findings have implications for understanding aging, evolution, and speciation.