ArticlePLoS genetics2008
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
Article in PLoS genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 61 citations in OpenAlex.
- Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits.Evolutionary applications · 2026Review
- Late Iron Age and Roman equine breeding north of the Alps: Genetic insights and cultural implications.iScience · 2025Article
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes.Animals : an open access journal from MDPI · 2024Review
- Whole Genome Resequencing Reveals Selection Signals Related to Wool Color in Sheep.Animals : an open access journal from MDPI · 2023Article
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- Current State of SLC and ABC Transporters in the Skin and Their Relation to Sweat Metabolites and Skin Diseases.Proteomes · 2021Review
- Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits.Frontiers in genetics · 2020Article
- Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.Genes · 2019Article
- Two Variants inG3 (Bethesda, Md.) · 2017Article
- Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication.BMC genomics · 2014Article
- Whole genome sequence and analysis of the Marwari horse breed and its genetic origin.BMC genomics · 2014Article
- Genome-wide analysis reveals selection for important traits in domestic horse breeds.PLoS genetics · 2013Article
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- A high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studies.PLoS genetics · 2012Article
- The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport.British journal of pharmacology · 2011Review
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- Intracellular amino acid sensing and mTORC1-regulated growth: new ways to block an old target?Current opinion in investigational drugs (London, England : 2000) · 2010Review
- Characterization of equine and other vertebrate TLR3, TLR7, and TLR8 genes.Immunogenetics · 2009Article
- Analysis and update of the human solute carrier (SLC) gene superfamily.Human genomics · 2009Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Champagne coat color in horses is controlled by a single, autosomal-dominant gene (CH). The phenotype produced by this gene is valued by many horse breeders, but can be difficult to distinguish from the effect produced by the Cream coat color dilution gene (CR). Three sires and their families segregating for CH were tested by genome scanning with microsatellite markers. The CH gene was mapped within a 6 cM region on horse chromosome 14 (LOD = 11.74 for theta = 0.00). Four candidate genes were identified within the region, namely SPARC [Secreted protein, acidic, cysteine-rich (osteonectin)], SLC36A1 (Solute Carrier 36 family A1), SLC36A2 (Solute Carrier 36 family A2), and SLC36A3 (Solute Carrier 36 family A3). SLC36A3 was not expressed in skin tissue and therefore not considered further. The other three genes were sequenced in homozygotes for CH and homozygotes for the absence of the dilution allele (ch). SLC36A1 had a nucleotide substitution in exon 2 for horses with the champagne phenotype, which resulted in a transition from a threonine amino acid to an arginine amino acid (T63R). The association of the single nucleotide polymorphism (SNP) with the champagne dilution phenotype was complete, as determined by the presence of the nucleotide variant among all 85 horses with the champagne dilution phenotype and its absence among all 97 horses without the champagne phenotype. This is the first description of a phenotype associated with the SLC36A1 gene.
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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.