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Updated: May 25, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
Clusters of adaptive evolution in the human genome
Laura B Scheinfeldt1, Shameek Biswas, Jennifer Madeoy
1Department of Genome Sciences, University of Washington Seattle, WA, USA.
Recent positive selection in the human genome was investigated. Analysis revealed three distinct signals of selection around the ALMS1 gene, indicating complex adaptive evolution in human populations.
Area of Science:
- Human evolutionary genetics
- Population genetics
- Genomics
Background:
- Identifying regions of the human genome under recent positive selection is crucial for understanding human evolution.
- Detailed follow-up studies of these regions are less common but essential for in-depth analysis.
- Previous work identified the ALMS1 gene as a target of recent positive selection in Eurasian populations.
Purpose of the Study:
- To conduct a detailed follow-up analysis of genetic variation in the ALMS1 region.
- To identify and characterize signals of recent positive selection.
- To explore broader patterns of adaptive evolution across the human genome.
Main Methods:
- Analysis of single nucleotide polymorphism (SNP) data from HapMap and Human Genome Diversity Project (HGDP) samples.
- Examination of sequence data from the ALMS1 region.
- Computational analysis to identify clusters of independent selective events.
Main Results:
- Discovery of three independent and distinct signals of recent positive selection within a 3 Mb region surrounding ALMS1.
- Identification of 19 additional clusters of putative adaptive evolution using HapMap data.
- Evidence suggests complex patterns of recent positive selection shaping human genetic variation.
Conclusions:
- The ALMS1 region harbors multiple independent signals of recent positive selection.
- Genome-wide scans for positive selection require careful interpretation due to potential clusters of adaptive events.
- This study enhances our understanding of how recent positive selection has shaped the human genome.
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