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Published on: January 17, 2015
Widespread balancing selection and pathogen-driven selection at blood group antigen genes.
Matteo Fumagalli1, Rachele Cagliani, Uberto Pozzoli
1Scientific Institute IRCCS E. Medea, Bioinformatic Lab, 23842 Bosisio Parini (LC), Italy.
Genome Research
|November 11, 2008
Summary
Blood group antigen (BGA) gene variations correlate with pathogen richness, indicating their role in host-pathogen evolution. Several BGA genes show evidence of balancing selection, highlighting their importance in human evolutionary history.
Area of Science:
- Human evolutionary genetics
- Immunogenetics
- Population genetics
Background:
- Allelic variations in blood group antigen (BGA) genes are historically linked to infectious disease susceptibility.
- Host-pathogen interactions are key evolutionary drivers, suggesting BGAs could be targets of natural selection.
Purpose of the Study:
- To investigate the hypothesis that BGAs are targets of selection due to host-pathogen interactions.
- To identify specific BGA loci under selection pressure related to pathogen richness.
Main Methods:
- Collected pathogen richness data for 52 global populations.
- Analyzed correlations between BGA variants and pathogen richness, controlling for confounding variables.
- Performed tests for selection, including balancing selection and non-neutral evolution, on specific BGA genes.
Main Results:
- Significant correlations found between pathogen richness and variants at 11 out of 26 BGA loci.
- Evidence of balancing selection identified in CD55, CD151, and SLC14A1 genes.
- Non-neutral evolution detected upstream of the FUT2 gene, and a divergent haplotype clade in BSG was described.
Conclusions:
- BGAs play a significant role in the human host-pathogen evolutionary arms race.
- Widespread selection acts on BGAs, comparable only to loci involved in antigen recognition.
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