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Related Concept Videos

Spontaneous and Induced Mutations01:30

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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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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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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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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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APOBEC mutagenesis is a common process in normal human small intestine.

Yichen Wang1, Philip S Robinson1,2, Tim H H Coorens1,3

  • 1Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, UK.

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APOBEC mutational signatures, common in cancer, occur sporadically in normal small intestine cells. This is likely collateral damage from APOBEC1

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Area of Science:

  • Genomics
  • Cancer Biology
  • Molecular Evolution

Background:

  • APOBEC mutational signatures, specifically SBS2 and SBS13, are frequently observed in human cancers.
  • The precise triggers, timing, and enzymes responsible for APOBEC mutagenesis remain incompletely understood.
  • Understanding these signatures in normal tissues is crucial for deciphering their role in cancer development.

Purpose of the Study:

  • To investigate the occurrence and characteristics of APOBEC mutational signatures (SBS2/SBS13) in normal human small intestine epithelium.
  • To determine if APOBEC mutagenesis is cell-intrinsic and its pattern throughout the human lifespan.
  • To elucidate the potential role of APOBEC1 in driving these mutations in the small intestine.

Main Methods:

  • Whole-genome sequencing of 342 microdissected normal epithelial crypts from 39 individuals.
  • Analysis of APOBEC mutational signatures (SBS2/SBS13) distribution within and between crypts.
  • Quantification of APOBEC1 mRNA levels in various human tissues.

Main Results:

  • APOBEC signatures SBS2/SBS13 were found in 17% of normal small intestine crypts, a higher frequency than in most other normal tissues.
  • Mutations often appeared in isolated crypts, suggesting a cell-intrinsic cause.
  • Mutagenesis occurred episodically across all ages, and high APOBEC1 mRNA levels in the small intestine correlated with mutation frequency.

Conclusions:

  • The high prevalence of SBS2/SBS13 in the small intestine is likely a consequence of APOBEC1's normal function in APOB mRNA editing.
  • APOBEC mutagenesis is cell-intrinsic and occurs throughout life, even in young individuals.
  • These findings provide insights into the origin of APOBEC-driven mutations and their potential contribution to early cancer development.