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Following the Dynamics of Structural Variants in Experimentally Evolved Populations

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Recent Selection Changes in Human Genes under Long-Term Balancing Selection.

Cesare de Filippo¹, Felix M Key², Silvia Ghirotto³

¹Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany cesare_filippo@eva.mpg.de aida.andres@eva.mpg.de.

Molecular Biology and Evolution

|February 3, 2016

Summary

This summary is machine-generated.

Balancing selection maintains diversity and can fuel rapid adaptation. Previously balanced alleles, especially in Eurasia, were recently targeted by positive selection, aiding adaptation to new environments.

Keywords:

environmental changes natural selection out-of-Africa.

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Area of Science:

Evolutionary genetics
Population genetics
Human adaptation

Background:

Balancing selection maintains genetic diversity but can also drive rapid adaptation.
Most human studies focus on long-term balancing selection, often shared across populations.
Balanced polymorphisms may play a role in adaptation to changing environments.

Purpose of the Study:

To investigate the role of previously balanced alleles in novel adaptations.
To analyze four specific genetic loci as case examples.
To understand population-specific allele frequency changes and their evolutionary drivers.

Main Methods:

Analysis of genetic loci signatures.
Comparison of allele frequencies between African and Eurasian populations.
Approximate Bayesian computation (ABC) to test evolutionary models.

Main Results:

Four loci showed signatures of long-term balancing selection in Africa but not Eurasia.
Allele frequency patterns in PKDREJ, SDR39U1, and ZNF473 suggest recent shifts in selection.
Eurasian populations likely experienced recent positive selection on previously balanced alleles or linked alleles.

Conclusions:

Balancing selection can provide functional alleles for subsequent adaptation.
Recent positive selection in Eurasian populations targeted alleles previously under balancing selection.
This mechanism facilitates rapid adaptation to novel environmental pressures.