ArticleGenetics1999
High polymorphism at the human melanocortin 1 receptor locus.
Article in Genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 284 citations in OpenAlex.
- Topical treatment strategies to manipulate human skin pigmentation.Advanced drug delivery reviews · 2020Pooled it
- Unique Features of Melanoma Risk and Diagnosis in Red-Haired Populations.International journal of molecular sciences · 2026Review
- Using drift coefficients as a basis for inferring times, effective population sizes, and genetic adaptations.Molecular biology and evolution · 2026Article
- Article
- Journey through the spectacular landscape of melanocortin 1 receptor.Pigment cell & melanoma research · 2024Review
- Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress.Clinical, cosmetic and investigational dermatology · 2022Article
- Functional Characterization of Melanocortin-3 Receptor in a Hibernating CavefishAnimals : an open access journal from MDPI · 2021Article
- A large Canadian cohort provides insights into the genetic architecture of human hair colour.Communications biology · 2021Article
- The evolution of human skin pigmentation involved the interactions of genetic, environmental, and cultural variables.Pigment cell & melanoma research · 2021Review
- Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.Biology open · 2021Article
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Non-Canonical Effects of ACTH: Insights Into Adrenal Insufficiency.Frontiers in endocrinology · 2021Review
- Solar ultraviolet-induced DNA damage response: Melanocytes story in transformation to environmental melanomagenesis.Environmental and molecular mutagenesis · 2020Review
- Evolution, Prehistory and Vitamin D.International journal of environmental research and public health · 2020Review
- Asian Hair: A Review of Structures, Properties, and Distinctive Disorders.Clinical, cosmetic and investigational dermatology · 2020Review
- Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Article
- Evolutionary Perspective in Rickets and Vitamin D.Frontiers in endocrinology · 2019Review
- Salt-Inducible Kinases: Physiology, Regulation by cAMP, and Therapeutic Potential.Trends in endocrinology and metabolism: TEM · 2018Review
- MC1R: Front and Center in the Bright Side of Dark Eumelanin and DNA Repair.International journal of molecular sciences · 2018Review
- Marshaling the Translational Potential ofCancer prevention research (Philadelphia, Pa.) · 2018Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
Variation in human skin/hair pigmentation is due to varied amounts of eumelanin (brown/black melanins) and phaeomelanin (red/yellow melanins) produced by the melanocytes. The melanocortin 1 receptor (MC1R) is a regulator of eu- and phaeomelanin production in the melanocytes, and MC1R mutations causing coat color changes are known in many mammals. We have sequenced the MC1R gene in 121 individuals sampled from world populations with an emphasis on Asian populations. We found variation at five nonsynonymous sites (resulting in the variants Arg67Gln, Asp84Glu, Val92Met, Arg151Cys, and Arg163Gln), but at only one synonymous site (A942G). Interestingly, the human consensus protein sequence is observed in all 25 African individuals studied, but at lower frequencies in the other populations examined, especially in East and Southeast Asians. The Arg163Gln variant is absent in the Africans studied, almost absent in Europeans, and at a low frequency (7%) in Indians, but is at an exceptionally high frequency (70%) in East and Southeast Asians. The MC1R gene in common and pygmy chimpanzees, gorilla, orangutan, and baboon was sequenced to study the evolution of MC1R. The ancestral human MC1R sequence is identical to the human consensus protein sequence, while MC1R varies considerably among higher primates. A comparison of the rates of substitution in genes in the melanocortin receptor family indicates that MC1R has evolved the fastest. In addition, the nucleotide diversity at the MC1R locus is shown to be several times higher than the average nucleotide diversity in human populations, possibly due to diversifying selection.
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What OpenQuestion holds
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.