ArticleBMC genetics2006
A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
Article in BMC genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed, 169 citations in OpenAlex.
- Genome Scanning Reveals the Genetic Basis of a Color Pattern Morphotype in an Island Population of the European Adder (Vipera berus).Genome biology and evolution · 2026Article
- Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits.Evolutionary applications · 2026Review
- Atomic structure and in situ visualization of native PMEL lamellae in melanosomes.Nature communications · 2025Article
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- Late Iron Age and Roman equine breeding north of the Alps: Genetic insights and cultural implications.iScience · 2025Article
- Effects ofJournal of animal science and technology · 2025Article
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes.Animals : an open access journal from MDPI · 2024Review
- Genome-Wide Association Analysis Identifies theAnimals : an open access journal from MDPI · 2023Article
- Identifying genes associated with genetic control of color polymorphism in the pearl oysterEvolutionary applications · 2023Article
- PMEL p.Leu18del dilutes coat color of Kumamoto sub-breed of Japanese Brown cattle.BMC genomics · 2022Article
- Evolutionary Conservation Genomics Reveals Recent Speciation and Local Adaptation in Threatened Takins.Molecular biology and evolution · 2022Article
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- Holstein Friesian dairy cattle edited for diluted coat color as a potential adaptation to climate change.BMC genomics · 2021Article
- Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.Molecules (Basel, Switzerland) · 2021Article
- Identification of critical amino acid residues in the regulatory N-terminal domain of PMEL.Scientific reports · 2021Article
- Comparative Transcriptome Analysis Identifies Candidate Genes Related to Black-Spotted Pattern Formation in Spotted Scat (Animals : an open access journal from MDPI · 2021Article
- Selection in the Finnhorse, a native all-around horse breed.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2021Article
- Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish.Frontiers in genetics · 2021Article
- Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens.Scientific reports · 2020Article
5 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
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a missense mutation associated with the Silver phenotype.
resultsSegregation data on the Silver locus (Z) were obtained within one half-sib family that consisted of a heterozygous Silver colored stallion with 34 offspring and their 29 non-Silver dams. We typed 41 genetic markers well spread over the horse genome, including one single microsatellite marker (TKY284) close to the candidate gene PMEL17 on horse chromosome 6 (ECA6q23). Significant linkage was found between the Silver phenotype and TKY284 (theta = 0, z = 9.0). DNA sequencing of PMEL17 in Silver and non-Silver horses revealed a missense mutation in exon 11 changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys). This mutation showed complete association with the Silver phenotype across multiple horse breeds, and was not found among non-Silver horses with one clear exception; a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 mutation. In total, 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 mutation. One additional mutation located in intron 9, only 759 bases from the missense mutation, also showed complete association with the Silver phenotype. However, as one could expect to find several non-causative mutations completely associated with the Silver mutation, we argue that the missense mutation is more likely to be causative.
conclusionThe present study shows that PMEL17 causes the Silver coat color in the horse and enable genetic testing for this trait.
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