ArticleAmerican journal of human genetics2012
A haplotype at STAT2 Introgressed from neanderthals and serves as a candidate of positive selection in Papua New Guinea.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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70 citing papers in PubMed.
- Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania.Science (New York, N.Y.) · 2026Article
- Archaic Introgression Shapes Genetic Variation at Loci Associated With DNA Virus Load in Modern Humans.Genome biology and evolution · 2026Article
- Recent advances in methods to characterize archaic introgression in modern humans.Genome research · 2026Review
- Insights into human history and complex traits from the genomes of African populations.Molecular biology and evolution · 2026Review
- Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence.bioRxiv : the preprint server for biology · 2025Article
- TheScience (New York, N.Y.) · 2025Article
- Haplotype-Based Approach Represents Locus Specificity in the Genomic Diversification Process in Humans (Genes · 2024Review
- More than a decade of genetic research on the Denisovans.Nature reviews. Genetics · 2024Review
- Pharmacogenetic Variation in Neanderthals and Denisovans and Implications for Human Health and Response to Medications.Genome biology and evolution · 2023Article
- Past human expansions shaped the spatial pattern of Neanderthal ancestry.Science advances · 2023Article
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- Long divergent haplotypes introgressed from wild sheep are associated with distinct morphological and adaptive characteristics in domestic sheep.PLoS genetics · 2023Article
- MaLAdapt Reveals Novel Targets of Adaptive Introgression From Neanderthals and Denisovans in Worldwide Human Populations.Molecular biology and evolution · 2023Article
- The role of Neanderthal introgression in liver cancer.BMC medical genomics · 2022Article
- The contribution of Neanderthal introgression to modern human traits.Current biology : CB · 2022Review
- Immunoglobulin genes, reproductive isolation and vertebrate speciation.Immunology and cell biology · 2022Article
- Chronology of natural selection in Oceanian genomes.iScience · 2022Article
- Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells.Molecular biology and evolution · 2022Article
- Underrepresented Populations at the Archaic Introgression Frontier.Frontiers in genetics · 2022Article
10 more citing papers are in PubMed but not listed here.
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3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Signals of archaic admixture have been identified through comparisons of the draft Neanderthal and Denisova genomes with those of living humans. Studies of individual loci contributing to these genome-wide average signals are required for characterization of the introgression process and investigation of whether archaic variants conferred an adaptive advantage to the ancestors of contemporary human populations. However, no definitive case of adaptive introgression has yet been described. Here we provide a DNA sequence analysis of the innate immune gene STAT2 and show that a haplotype carried by many Eurasians (but not sub-Saharan Africans) has a sequence that closely matches that of the Neanderthal STAT2. This haplotype, referred to as N, was discovered through a resequencing survey of the entire coding region of STAT2 in a global sample of 90 individuals. Analyses of publicly available complete genome sequence data show that haplotype N shares a recent common ancestor with the Neanderthal sequence (~80 thousand years ago) and is found throughout Eurasia at an average frequency of ~5%. Interestingly, N is found in Melanesian populations at ~10-fold higher frequency (~54%) than in Eurasian populations. A neutrality test that controls for demography rejects the hypothesis that a variant of N rose to high frequency in Melanesia by genetic drift alone. Although we are not able to pinpoint the precise target of positive selection, we identify nonsynonymous mutations in ERBB3, ESYT1, and STAT2-all of which are part of the same 250 kb introgressive haplotype-as good candidates.
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