ArticleBMC ecology and evolution2022
Positive selection-driven fixation of a hominin-specific amino acid mutation related to dephosphorylation in IRF9.
Article in BMC ecology and evolution, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Positive selection on rare variants of IGF1R and BRD4 underlying the cold adaptation of wild boar.Genetics, selection, evolution : GSE · 2025Article
- Origin and Evolution of Genes in Eukaryotes: Mechanisms, Dynamics, and Functional Implications.Genes · 2025Review
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Genome research · 2025Article
- Uncovering selection pressures on the IRF gene family in bats' immune system.Immunogenetics · 2025Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
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Abstract
The arms race between humans and pathogens drives the evolution of the human genome. It is thus expected that genes from the interferon-regulatory factors family (IRFs), a critical family for anti-viral immune response, should be undergoing episodes of positive selection. Herein, we tested this hypothesis and found multiple lines of evidence for positive selection on the amino acid site Val129 (NP_006075.3:p.Ser129Val) of human IRF9. Interestingly, the ancestral reconstruction and population distribution analyses revealed that the ancestral state (Ser129) is conserved among mammals, while the derived positively selected state (Val129) was fixed before the "out-of-Africa" event ~ 500,000 years ago. The motif analysis revealed that this young amino acid (Val129) may serve as a dephosphorylation site of IRF9. Structural parallelism between homologous genes further suggested the functional effects underlying the dephosphorylation that may affect the immune activity of IRF9. This study provides a model in which a strong positive Darwinian selection drives a recent fixation of a hominin-specific amino acid leading to molecular adaptation involving dephosphorylation in an immune-responsive gene.
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