ArticleCell2013
Modeling recent human evolution in mice by expression of a selected EDAR variant.
Article in Cell, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 141 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
141 citing papers in PubMed, 3 syntheses or guidelines pooled it, 286 citations in OpenAlex.
- Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLoS genetics · 2023Pooled it
- Pooled it
- Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans.PLoS genetics · 2018Pooled it
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Selective advantages, selective mismatches, chronic inflammation, obesity, and type 2 diabetes: a new hypothesis to explain the effects of natural selection on genetic variation at the ectodysplasin A receptor locus.BMJ open diabetes research & care · 2026Review
- Multispecies Transcriptomics of Mammalian Skin Reveals Conserved and Divergent Regulatory Features.International journal of molecular sciences · 2026Article
- Article
- Association between genetic ancestry and EDAR rs3827760 genotypes in Latin American populationsBiomedica : revista del Instituto Nacional de Salud · 2026Article
- Complementary constraints in germ and immune cells shape evolution of gene regulation and phenotype.bioRxiv : the preprint server for biology · 2026Article
- AncientProxy: A catalog of ancient proxies for modern genetic variants.American journal of human genetics · 2026Article
- Divergent Eurasian ancestry and local adaptation shape the genetic landscapes of the Yugur and Uyghur.Briefings in bioinformatics · 2026Article
- Contrasting signals of selection at theJournal of genetics · 2026Article
- Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people.Human genetics · 2025Article
- Advances in sweat gland organoids: construction, molecular mechanisms, and challenges.Stem cell research & therapy · 2025Review
- Defining breast epithelial cell types in the single-cell era.Developmental cell · 2025Review
- Organizational principles of integumentary organs: Maximizing variations for effective adaptation.Developmental biology · 2025Review
- Evolution of long scalp hair in humans.The British journal of dermatology · 2025Review
- Genetic diversity and dietary adaptations of the Central Plains Han Chinese population in East Asia.Communications biology · 2025Article
- Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.Nature communications · 2025Article
- Critical Considerations in Calling Disease-CausingJournal of clinical medicine · 2024Article
81 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 7 institutions in 3 countries.
Funding
Abstract
An adaptive variant of the human Ectodysplasin receptor, EDARV370A, is one of the strongest candidates of recent positive selection from genome-wide scans. We have modeled EDAR370A in mice and characterized its phenotype and evolutionary origins in humans. Our computational analysis suggests the allele arose in central China approximately 30,000 years ago. Although EDAR370A has been associated with increased scalp hair thickness and changed tooth morphology in humans, its direct biological significance and potential adaptive role remain unclear. We generated a knockin mouse model and find that, as in humans, hair thickness is increased in EDAR370A mice. We identify new biological targets affected by the mutation, including mammary and eccrine glands. Building on these results, we find that EDAR370A is associated with an increased number of active eccrine glands in the Han Chinese. This interdisciplinary approach yields unique insight into the generation of adaptive variation among modern humans.
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Registered trials
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 OpenQuestion graph.