ArticleCanine medicine and genetics2020
Comprehensive genetic testing combined with citizen science reveals a recently characterized ancient MC1R mutation associated with partial recessive red phenotypes in dog.
Article in Canine medicine and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 13 citations in OpenAlex.
- Beyond Appearances: The Hidden Coat Diversity of the Sicilian Mastiff Revealed by Integrated Phenotypic and Genetic Analyses.Veterinary sciences · 2026Article
- The Shepherd and the Hunter: A Genomic Comparison of Italian Dog Breeds.Animals : an open access journal from MDPI · 2023Article
- Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs.Science (New York, N.Y.) · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Melanocortin 1 Receptor (MC1R) plays a central role in regulation of coat color determination in various species and is commonly referred to as the "E (extension) Locus". Allelic variation of the MC1R gene is associated with coat color phenotypes E
resultsCommercial genotyping of 11,750 dog samples showed the R301C variant of the MC1R gene was present in 35 breeds or breed varieties, at an allele frequency of 1.5% in the tested population. We detected no linkage disequilibrium between R301C and other tested alleles of the E locus. Based on current convention we propose that R301C should be considered a novel allele of the E locus, which we have termed e
conclusionsThis study demonstrates a large genotype screening effort to identify the frequency and distribution of the MC1R R301C variant, one of the earliest mutations captured by canine domestication, and citizen science empowered characterization of its impact on coat color.
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