ArticleNature genetics2014
A molecular basis for classic blond hair color in Europeans.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 1 of them a synthesis that pooled it.
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96 citing papers in PubMed, 1 synthesis or guideline pooled it, 178 citations in OpenAlex.
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- Genetic analysis of iris pigmentation in Swiss pig breeds identifies a missense KITLG variant as a potential causal factor for pale and heterochromatic irises.Genetics, selection, evolution : GSE · 2026Article
- New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.Molecular genetics and genomics : MGG · 2026Article
- Genetic basis and origin of coat color in Leiqiong cattle.Zoological research · 2025Article
- Genetic advancements and future directions in ruminant livestock breeding: from reference genomes to multiomics innovations.Science China. Life sciences · 2025Review
- TPC2: From Blond Hair to Melanoma?Cancers · 2024Review
- Structural genomic variation and behavioral interactions underpin a balanced sexual mimicry polymorphism.Current biology : CB · 2024Article
- Dissection of core promoter syntax through single nucleotide resolution modeling of transcription initiation.bioRxiv : the preprint server for biology · 2024Article
- Parallel Evolution at the Regulatory Base-Pair Level Contributes to Mammalian Interspecific Differences in Polygenic Traits.Molecular biology and evolution · 2024Article
- Genomic imputation of ancient Asian populations contrasts local adaptation in pre- and post-agricultural Japan.iScience · 2024Article
- The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.International journal of molecular sciences · 2024Article
- Genomic analysis uncovers novel candidate genes related to adaptation to tropical climates and milk production traits in native goats.BMC genomics · 2024Article
- The cholesterol biosynthesis enzyme FAXDC2 couples Wnt/β-catenin to RTK/MAPK signaling.The Journal of clinical investigation · 2024Article
- Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.Nature reviews. Genetics · 2023Review
- Similarity and diversity of genetic architecture for complex traits between East Asian and European populations.BMC genomics · 2023Article
- Identifying signatures of positive selection in human populations from North Africa.Scientific reports · 2023Article
- Human genetic history on the Tibetan Plateau in the past 5100 years.Science advances · 2023Article
- Increased chromatin accessibility promotes the evolution of a transcriptional silencer inScience advances · 2023Article
36 more citing papers are in PubMed but not listed here.
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5 authors at 2 institutions in 1 country.
Funding
Abstract
Hair color differences are among the most obvious examples of phenotypic variation in humans. Although genome-wide association studies (GWAS) have implicated multiple loci in human pigment variation, the causative base-pair changes are still largely unknown. Here we dissect a regulatory region of the KITLG gene (encoding KIT ligand) that is significantly associated with common blond hair color in northern Europeans. Functional tests demonstrate that the region contains a regulatory enhancer that drives expression in developing hair follicles. This enhancer contains a common SNP (rs12821256) that alters a binding site for the lymphoid enhancer-binding factor 1 (LEF1) transcription factor, reducing LEF1 responsiveness and enhancer activity in cultured human keratinocytes. Mice carrying ancestral or derived variants of the human KITLG enhancer exhibit significant differences in hair pigmentation, confirming that altered regulation of an essential growth factor contributes to the classic blond hair phenotype found in northern Europeans.
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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 OpenQuestion graph.