ArticleAmerican journal of human genetics2019
Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 60 citations in OpenAlex.
- Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans.PLoS genetics · 2026Article
- Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence.bioRxiv : the preprint server for biology · 2025Article
- Adaptive introgression in modern human circadian rhythm genes.Npj biological timing and sleep · 2025Article
- Denisovan admixture facilitated environmental adaptation in Papua New Guinean populations.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Rhytidome- and cork-type barks of holm oak, cork oak and their hybrids highlight processes leading to cork formation.BMC plant biology · 2024Article
- A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.American journal of human genetics · 2024Article
- Karyotypic stasis and swarming influenced the evolution of viral tolerance in a species-rich bat radiation.Cell genomics · 2024Article
- More than a decade of genetic research on the Denisovans.Nature reviews. Genetics · 2024Review
- Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.Nature reviews. Genetics · 2023Review
- 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
- Article
- Review
- Denisovan introgression has shaped the immune system of present-day Papuans.PLoS genetics · 2022Article
- Article
- 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
- The genetic and evolutionary determinants of COVID-19 susceptibility.European journal of human genetics : EJHG · 2022Review
- Genome-wide analyses of introgression between two sympatric Asian oak species.Nature ecology & evolution · 2022Article
- Apportioning archaic variants among modern populations.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Article
- Underrepresented Populations at the Archaic Introgression Frontier.Frontiers in genetics · 2022Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Archaic admixture is increasingly recognized as an important source of diversity in modern humans, and Neanderthal haplotypes cover 1%-3% of the genome of present-day Eurasians. Recent work has shown that archaic introgression has contributed to human phenotypic diversity, mostly through the regulation of gene expression. Yet the mechanisms through which archaic variants alter gene expression and the forces driving the introgression landscape at regulatory regions remain elusive. Here, we explored the impact of archaic introgression on transcriptional and post-transcriptional regulation. We focused on promoters and enhancers across 127 different tissues as well as on microRNA (miRNA)-mediated regulation. Although miRNAs themselves harbor few archaic variants, we found that some of these variants may have a strong impact on miRNA-mediated gene regulation. Enhancers were by far the regulatory elements most affected by archaic introgression: up to one-third of the tissues we tested presented significant enrichments. Specifically, we found strong enrichments of archaic variants in adipose-related tissues and primary T cells, even after accounting for various genomic and evolutionary confounders such as recombination rate and background selection. Interestingly, we identified signatures of adaptive introgression at enhancers of some key regulators of adipogenesis, raising the interesting hypothesis of a possible adaptation of early Eurasians to colder climates. Collectively, this study sheds new light on the mechanisms through which archaic admixture has impacted gene regulation in Eurasians and, more generally, increases our understanding of the contribution of Neanderthals to the regulation of acquired immunity and adipose homeostasis in modern humans.
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