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Related Experiment Videos

A common inversion under selection in Europeans.

Hreinn Stefansson1, Agnar Helgason, Gudmar Thorleifsson

  • 1deCODE Genetics, Sturlugata 8, 101 Reykjavík, Iceland.

Nature Genetics
|January 18, 2005
PubMed
Summary

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This summary is machine-generated.

The H2 lineage, a chromosome 17 inversion polymorphism, shows evidence of positive selection in Iceland. Females carrying this inversion have more offspring and higher recombination rates.

Area of Science:

  • Human genetics
  • Population genetics
  • Evolutionary biology

Background:

  • A 900-kb inversion polymorphism on chromosome 17q21.31 defines two distinct human lineages, H1 and H2.
  • These lineages diverged up to 3 million years ago and have not recombined.
  • The H2 lineage is prevalent in Europeans (20%) but rare in African and East Asian populations.

Purpose of the Study:

  • To investigate the evolutionary history and population dynamics of the 17q21.31 inversion.
  • To determine if the H2 lineage is currently undergoing positive selection in specific populations.

Main Methods:

  • Physical mapping of chromosome 17q21.31.
  • Population frequency analysis of H1 and H2 lineages.
  • Haplotype structure analysis in European populations.

Related Experiment Videos

  • Demographic analysis of Icelandic H2 carriers.

    • Main Results:

    • The H2 lineage exhibits a unique haplotype structure in Europeans, suggesting past positive selection.
    • The H2 lineage is actively undergoing positive selection in the Icelandic population.
    • Icelandic females carrying the H2 inversion have a higher reproductive rate and increased recombination rates compared to non-carriers.

    Conclusions:

    • The H2 lineage represents a significant human evolutionary event with ongoing adaptive changes.
    • Positive selection on the H2 lineage in Iceland impacts reproductive fitness and genetic diversity.
    • Understanding inversion polymorphisms provides insights into human adaptation and population history.