ArticleAmerican journal of human genetics2016
Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers.
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143 citing papers in PubMed, 266 citations in OpenAlex.
- SERPINB1 as a critical regulator of inflammation and protease activity in human monocytic cells.ImmunoHorizons · 2026Article
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania.Science (New York, N.Y.) · 2026Article
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- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
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- Healthcare Development, Relaxed Natural Selection, and COVID-19 Infection Rates: An Evolutionary Population-Level Analysis.Health science reports · 2026Article
- Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans.PLoS genetics · 2026Article
- Immune gene diversity and STING1 variants in shaping cancer immunity across different genetic ancestry populations.Cell reports · 2026Article
- CRISPR-Cas9 Screening and Simulated Infection Transcriptomic Identify Key Drivers of Innate Immunity in Bactrian Camels.Animals : an open access journal from MDPI · 2026Article
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
- Ancient DNA insights into diverse pathogens and their hosts.Nature reviews. Genetics · 2026Review
- Association of Chromosome 3p21.32 Haplotype Blocks Introgressed from Neanderthals with Critical COVID-19 in a Spanish Cohort.Life (Basel, Switzerland) · 2025Article
- Global impact of micronutrients in modern human evolution.American journal of human genetics · 2025Article
- Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence.bioRxiv : the preprint server for biology · 2025Article
- G4SNVHunter: An R/Bioconductor Package for Evaluating SNV-Induced Disruption of G-Quadruplex Structures Leveraging the G4Hunter Algorithm.PLoS computational biology · 2025Article
- IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients.NAR genomics and bioinformatics · 2025Article
- Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025Review
- Local genetic adaptation to habitat in wild chimpanzees.Science (New York, N.Y.) · 2025Article
- Positive Selection on Mammalian Immune Genes-Effects of Gene Function and Selective Constraint.Molecular biology and evolution · 2025Article
83 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human genes governing innate immunity provide a valuable tool for the study of the selective pressure imposed by microorganisms on host genomes. A comprehensive, genome-wide study of how selective constraints and adaptations have driven the evolution of innate immunity genes is missing. Using full-genome sequence variation from the 1000 Genomes Project, we first show that innate immunity genes have globally evolved under stronger purifying selection than the remainder of protein-coding genes. We identify a gene set under the strongest selective constraints, mutations in which are likely to predispose individuals to life-threatening disease, as illustrated by STAT1 and TRAF3. We then evaluate the occurrence of local adaptation and detect 57 high-scoring signals of positive selection at innate immunity genes, variation in which has been associated with susceptibility to common infectious or autoimmune diseases. Furthermore, we show that most adaptations targeting coding variation have occurred in the last 6,000-13,000 years, the period at which populations shifted from hunting and gathering to farming. Finally, we show that innate immunity genes present higher Neandertal introgression than the remainder of the coding genome. Notably, among the genes presenting the highest Neandertal ancestry, we find the TLR6-TLR1-TLR10 cluster, which also contains functional adaptive variation in Europeans. This study identifies highly constrained genes that fulfill essential, non-redundant functions in host survival and reveals others that are more permissive to change-containing variation acquired from archaic hominins or adaptive variants in specific populations-improving our understanding of the relative biological importance of innate immunity pathways in natural conditions.
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