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Detecting ancient positive selection in humans using extended lineage sorting.

Stéphane Peyrégne¹, Michael James Boyle¹, Michael Dannemann¹

¹Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.

Genome Research

|July 20, 2017

Summary

This summary is machine-generated.

Scientists developed a new method to detect ancient natural selection in the human genome by comparing modern humans to Neandertals and Denisovans. This approach identifies genomic regions linked to unique human traits that evolved early in our history.

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Area of Science:

Evolutionary genomics
Human origins
Population genetics

Background:

Natural selection has profoundly shaped human evolution, leading to traits distinguishing modern humans from extinct and extant relatives.
Understanding the genetic basis of human-specific traits requires methods to detect ancient selective pressures in the genome.

Purpose of the Study:

To introduce a novel computational method for identifying ancient selective sweeps in the human genome.
To provide insights into the molecular underpinnings of human-specific traits shaped by early evolutionary selection.

Main Methods:

Developed a method to scan the human genome for extended regions where Neandertal and Denisovan sequences fall outside present-day human variation.
Utilized simulations to validate the method's ability to detect ancient positive selection and distinguish it from background selection.
Applied the method to the 1000 Genomes dataset.

Main Results:

The method successfully detected ancient selective sweeps, indicating rapid fixation of certain genetic lineages.
Evidence was found for ancient selective sweeps favoring regulatory changes in the human genome.
A list of genomic regions potentially underlying positively selected, human-specific traits was generated.

Conclusions:

The developed method is effective for detecting ancient positive selection events in human evolutionary history.
Genomic regions associated with regulatory changes appear to have been targets of ancient natural selection.
This research offers a valuable tool for investigating the genetic basis of human uniqueness.