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Related Concept Videos

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Gene Evolution - Fast or Slow?

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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Gene Evolution - Fast or Slow?02:05

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

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Published on: February 3, 2023

Variable tandem repeats accelerate evolution of coding and regulatory sequences.

Rita Gemayel1, Marcelo D Vinces, Matthieu Legendre

  • 1Laboratory for Systems Biology, VIB, B-3001 Heverlee, Belgium.

Annual Review of Genetics
|September 3, 2010
PubMed
Summary
This summary is machine-generated.

Tandem repeats (TRs), often overlooked genetic elements, significantly impact phenotypes and diseases. Understanding these unstable repeat variations is crucial for advancing genotype-phenotype research.

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Last Updated: Jun 9, 2026

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Area of Science:

  • Genomics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • Genotype-phenotype mapping traditionally emphasizes single nucleotide polymorphisms (SNPs) and copy number variation (CNV).
  • Tandem repeats (TRs), including microsatellites and minisatellites, are widespread yet often disregarded genomic elements.
  • A significant proportion of eukaryotic genes and promoters (10-20%) contain unstable repeat tracts.

Purpose of the Study:

  • To highlight the underappreciated role of tandem repeats (TRs) in genotype-phenotype relationships.
  • To discuss the phenotypic consequences and evolutionary implications of mutations within TRs.
  • To advocate for the inclusion of TR variation in comparative genomics and disease studies.

Main Methods:

  • Literature review and synthesis of existing research on tandem repeats.
  • Analysis of known examples linking TR mutations to phenotypic outcomes.
  • Comparative genomics perspective on the prevalence and function of TRs.

Main Results:

  • Mutations in TRs can lead to significant phenotypic alterations, including severe human diseases like Huntington disease.
  • Variable repeats contribute to diverse phenotypes such as cell surface characteristics, skeletal morphology, and circadian rhythm regulation.
  • TRs exhibit characteristics of both genetic and epigenetic modifications, potentially enhancing organismal evolvability.

Conclusions:

  • Tandem repeats represent a critical, yet often ignored, source of genetic variation influencing phenotypes.
  • TRs play a substantial role in both disease etiology and adaptive phenotypic variability.
  • Further investigation into TRs is essential for a comprehensive understanding of genome function and evolution.