ArticleNature ecology & evolution2020
Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations.
Article in Nature ecology & evolution, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 50 citations in OpenAlex.
- Comparing Neanderthal Introgression Maps Reveals Core Agreement But Substantial Heterogeneity.Molecular biology and evolution · 2026Article
- Admixture influences the genetic architecture of DNA methylation in a wild primate hybrid zone.Genome biology · 2026Article
- Signals of Ancestry-Specific Selection in Gentle Africanized Honey Bees.Genome biology and evolution · 2025Article
- SimHumanity: Using SLiM 5.0 to run whole-genome simulations of human evolution.bioRxiv : the preprint server for biology · 2025Article
- Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025Review
- Leveraging shared ancestral variation to detect local introgression.PLoS genetics · 2024Article
- Archaic Introgression Shaped Human Circadian Traits.Genome biology and evolution · 2023Article
- The fitness of an introgressing haplotype changes over the course of divergence and depends on its size and genomic location.PLoS biology · 2023Article
- Resurrecting the alternative splicing landscape of archaic hominins using machine learning.Nature ecology & evolution · 2023Article
- Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
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- Archaic introgression contributed to the pre-agriculture adaptation of vitamin B1 metabolism in East Asia.iScience · 2022Article
- Using neuroimaging genomics to investigate the evolution of human brain structure.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- The contribution of Neanderthal introgression to modern human traits.Current biology : CB · 2022Review
- Predicting Archaic Hominin Phenotypes from Genomic Data.Annual review of genomics and human genetics · 2022Review
- A Brain Region-Specific Expression Profile for Genes Within Large Introgression Deserts and Under Positive Selection inFrontiers in cell and developmental biology · 2022Article
- Human immune diversity: from evolution to modernity.Nature immunology · 2021Review
- A signature of Neanderthal introgression on molecular mechanisms of environmental responses.PLoS genetics · 2021Article
- Morphological ghosts of introgression in Darwin's finch populations.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Neanderthal ancestry remains across modern Eurasian genomes and introgressed sequences influence diverse phenotypes. Here, we demonstrate that introgressed sequences reintroduced thousands of ancestral alleles that were lost in Eurasian populations before introgression. Our simulations and variant effect predictions argue that these reintroduced alleles (RAs) are more likely to be tolerated by modern humans than are introgressed Neanderthal-derived alleles (NDAs) due to their distinct evolutionary histories. Consistent with this, we show enrichment for RAs and depletion for NDAs on introgressed haplotypes with expression quantitative trait loci (eQTL) and phenotype associations. Analysis of available cross-population eQTLs and massively parallel reporter assay data show that RAs commonly influence gene expression independent of linked NDAs. We further validate these independent effects for one RA in vitro. Finally, we demonstrate that NDAs are depleted for regulatory activity compared to RAs, while RAs have activity levels similar to non-introgressed variants. In summary, our study reveals that Neanderthal introgression reintroduced thousands of lost ancestral variants with gene regulatory activity and that these RAs were more tolerated than NDAs. Thus, RAs and their distinct evolutionary histories must be considered when evaluating the effects of introgression.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.