Researchers leverage citizen science and dog DNA samples to characterize a variant in the MC1R gene. That is one of the earliest mutations related to dog domestication. They found an incredible revelation regarding coat color.
Wisdom Health Genetics, the world leader in pet genetics and the maker of the WISDOM PANEL™ dog DNA test. This was announced today in the Comprehensive genetic testing publication in Canine Medicine and Genetics of the study. Combined with citizen science, the study reveals a recently characterized ancient MC1R mutation. This gene is associated with partial recessive red phenotypes in the dog.
In the study, researchers characterize the impact of an ancient gene variant on coat colors in modern dog breeds.
Using data from Wisdom Panel™ products, researchers conducted genotype analysis to determine the distribution and frequency of the ancient R301C variant in the Melanocortin 1 Receptor gene (MC1R). The study found the R301C variant in 35 modern dog breeds. They found a frequency of 1.5% in a cohort of nearly 12,000 dogs representing 304 different breeds.
The research found the R301C variant to be the most common MC1R variant in some Spitz breeds. These included the Alaskan Malamute, Alaskan Klee Kai, Northern Inuit Dog, Siberian Husky, and Hound breeds.
The Main Findings
“We sought to determine whether the ancient R301C variant is present in today’s dog population. And if so, what effect it has on a dog’s coat color phenotype?”
“Our findings indicate that the R301C variant represents a novel reduced function allele of the MC1R gene. That results in various reddish-yellow enriched phenotypes and explains the coat color patterning known as “grizzle” in Chihuahua. It also gives off “domino” in Alaskan Malamute and other Spitz breeds, and “pied” in Beagle. We designated this newly characterized variant as ancient red (eA).”
The study leveraged citizen science—comparing the dogs’ coat color variant genotypes with owner-provided photos of the dogs’ coats. This allowed researchers to understand further the influence of R301C on MC1R.
“Pet parents and breeders play a crucial role in genetic research by supporting studies of the genetic background of traits and their respective phenotypes,” said Rebecca Chodroff Foran, Ph.D., R&D Director at Wisdom Health Genetics. “Without their willingness to participate in citizen science, we would not have been able to make these discoveries.”
This study underscores the importance of not only genetic testing across a large number of dog breeds. Also, the role of citizen science in furthering scientific discoveries in companion animal genetics.
About the ancient MC1R mutation study:
● Signaling at the Melanocortin 1 Receptor gene, known as MC1R, determines a dog’s coat color. The MC1R gene produces a key signaling molecule that helps determine the expression of eumelanin (black/brown color) and pheomelanin (yellow/red color). It also aids the location of the pigments throughout the body and individual hairs. Variation in the MC1R gene is associated with several coat color phenotypes or appearances. Namely the melanistic mask, grizzle/domino, and recessive red color in dogs.
● In this study, researchers explored the Wisdom Health Genetics database. It totaled over 2 million samples trying to identify dogs genotyped for the R301C variant. The researchers then leveraged citizen science to compare the genotypes to the dogs’ actual coat color phenotypes. This was by using photos provided by the dogs’ owners.
● The R301C variant is one of the earliest mutations found in dogs. It likely represents one of the first coat color variations related to dog domestication. In today’s dogs, this variant causes coat color patterns. They’re referred to as domino in Alaskan Malamute and other Spitz breeds, pied in Beagle, and grizzle in Chihuahua.
● For the study, owners collected DNA samples from their dogs via a cheek swab. The 11,750 dogs studied represented 304 breeds and varieties and included 391 mixed-breed dogs. Researchers found the R301C variant present in 35 of the breeds. Or, breed varieties at a frequency of 1.5% in this study sample.
About Wisdom Health Genetics
The mission of the Wisdom Health business, a division of Kinship, is to strengthen the bond between pets and their people through world-leading insights powered by DNA. Wisdom Panel™ dog DNA tests—backed by WISDOM HEALTH™ scientific research—can help pet parents plan better, care smarter, and live longer. For more than a decade, Wisdom Health™ scientific research has contributed to state-of-the-art genetic tests for companion animals, revolutionizing personalized pet care. By unlocking the secrets of their dog or cat’s DNA, pet parents and veterinarians can work together to tailor wellness programs that fit the one-of-a-kind needs of their pets. More than 7,000 veterinarians worldwide recommend and offer Wisdom Panel™ products. For more information, visit www.wisdompanel.com, and follow the Wisdom Panel™ brand on Facebook and Instagram.
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Part of Mars, Incorporated—a family-owned business with more than a century of history-making diverse products and offering services for people and the pets people love—the 85,000 Associates across 50+ countries in Mars Petcare are dedicated to one purpose: A BETTER WORLD FOR PETS. With 85 years of experience, our portfolio of almost 50 brands serves the health and nutrition needs of the world’s pets—including brands PEDIGREE®, WHISKAS®, ROYAL CANIN®, NUTRO™, GREENIES™, SHEBA®, CESAR®, IAMS™, and EUKANUBA™, as well as the Waltham Petcare Science Institute, which has advanced research in the nutrition and health of pets for over 50 years.
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