Ancient Gene Variant Influences Coat Color in Modern Dogs

November 11, 2020 9:00 AM EST

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Researchers leverage citizen science and dog DNA samples to characterize a variant in the MC1R gene, one of the earliest mutations related to dog domestication

VANCOUVER, Wash.--(BUSINESS WIRE)-- Wisdom Health Genetics, the world leader in pet genetics and maker of the WISDOM PANEL™ dog DNA test, announced today the publication in Canine Medicine and Genetics of the study Comprehensive genetic testing combined with citizen science reveals a recently characterized ancient MC1R mutation associated with partial recessive red phenotypes in dog.

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The breed characteristic dark and light markings in the Alaskan Klee Kai caused by the ancient red variant. (Photo: Business Wire)

The breed characteristic dark and light markings in the Alaskan Klee Kai caused by the ancient red variant. (Photo: Business Wire)

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, with a frequency of 1.5% in a cohort of nearly 12,000 dogs representing 304 different breeds.

Remarkably, the research found the R301C variant to be the most common MC1R variant in some Spitz breeds (Alaskan Malamute, Alaskan Klee Kai, Northern Inuit Dog, Siberian Husky) and Hound breeds (Drever and English Foxhound).

“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,” said Heidi Anderson, Ph.D., Senior R&D Manager at Wisdom Health Genetics. “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, “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 further understand the influence of R301C on MC1R, a variant in a gene associated with the melanistic mask, grizzle/domino, and recessive red coat color phenotypes.

“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 but also the role of citizen science in furthering scientific discoveries in companion animal genetics.

Pet owners interested in learning more about Wisdom Health Genetics research and citizen science efforts as they become available can do so at https://www.wisdompanel.com/en-us/our-research.

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 both the expression of eumelanin (black/brown color) and pheomelanin (yellow/red color) and 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—totaling over 2 million samples—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 using photos provided by the dogs’ owners.

● First identified in 10,000-year-old prehistoric dog DNA samples, 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 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 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 love 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.

About Kinship

Advances in science, technology, health and nutrition offer an opportunity to transform the $100B+ pet care industry. With industry-leading data and analytics capabilities, a $100M venture fund and pioneering startup accelerator program, unique set of technology businesses like Whistle and Wisdom Health Genetics, Kinship is building the first-of-its-kind coalition of partners to transform the future of pet care. Kinship is a business division of Mars Petcare, the global leader in pet health, nutrition and services, dedicated to one purpose: A Better World for Pets. Follow @kinshipco to learn more.

About Mars Petcare

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. Mars Petcare is also a leading veterinary health provider through an international network of over 2,000 pet hospitals and diagnostic services including BANFIELD™, BLUEPEARL™, VCA™, Linnaeus, AniCura, and Antech. We’re also active in innovation and technology for pets, with Wisdom Panel™ genetic health screening and DNA testing for dogs, the WHISTLE™ GPS dog tracker, LEAP VENTURE STUDIO accelerator, and COMPANION FUND programs that drive innovation and disruption in the pet care industry. As a family business guided by our principles, we are privileged with the flexibility to fight for what we believe in—and we choose to fight for our purpose: A BETTER WORLD FOR PETS.

Lesley Albert
[email protected]

Source: Kinship



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