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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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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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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Genome structural variation in human evolution.

Edward J Hollox1, Luciana W Zuccherato2, Serena Tucci3

  • 1Department of Genetics and Genome Biology, University of Leicester, UK.

Trends in Genetics : TIG
|July 21, 2021
PubMed
Summary
This summary is machine-generated.

Structural variations (SVs) are large genomic differences impacting human evolution. This review highlights SVs in brain changes, environmental adaptation, and archaic hominin contributions to modern human genomes.

Keywords:
CNVadaptive evolutionhuman evolutioninfectionintrogressionstructural variation

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Area of Science:

  • Genomics
  • Human Evolution
  • Bioinformatics

Background:

  • Structural variation (SV) involves large genomic differences (>100 bp), including copy number changes and rearrangements like inversions.
  • Advances in reference genomes and sequencing technologies (short-read and long-read) have renewed interest in studying SVs.
  • Recent research emphasizes the significant role of SVs in human evolution and adaptation.

Purpose of the Study:

  • To review the impact of structural variations on human evolution.
  • To highlight human-specific SVs influencing brain development.
  • To summarize population-specific SVs related to environmental responses and archaic hominin admixture.

Main Methods:

  • Literature review of recent large-scale studies and functional analyses on structural variations.
  • Analysis of genomic data from human populations and archaic hominins.
  • Integration of short-read and long-read sequencing data for SV detection.

Main Results:

  • Human-specific SVs are implicated in significant changes in brain structure and function.
  • Population-specific SVs contribute to adaptation to diverse environments, including diet and disease resistance.
  • Archaic hominin admixture has introduced unique structural variations into present-day human genomes.

Conclusions:

  • Structural variations are key drivers of human evolution, influencing traits and adaptations.
  • Understanding SVs provides insights into human diversity, disease susceptibility, and evolutionary history.
  • The integration of advanced sequencing technologies continues to reveal the complex landscape of structural variation in humans.