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Canine chromosome 18 duplication hides behind the blue eyes of Siberian Huskies, according to a study published in PLOS Genetics Adam Boyko, PhD, founder and CEO of Embark Veterinary, and Aaron Sams, Ph.D., Senior Scientist of Embark Veterinary Inc. and his colleagues.
According to the authors, this is the first genomic study conducted with a consumer on a non-human model and the largest dog genome association study completed to date (The DNA of 6,000 dogs was tested).
Embark Veterinary is a DNA research company with offices in Boston and Ithaca, New York, and a research partner at the College of Veterinary Medicine at Cornell University.
Boyko, Sams and colleagues used a diverse panel of 6,070 genetically tested dogs whose owners provided phenotypic data through web surveys and photo downloads. They found that a duplication of 98.6 kilobases on chromosome 18 near the ALX4 gene, which plays an important role in the development of mammalian eyes, was strongly associated with a change in the color of blue eyes, mainly in Siberian huskies but also in non-native Australian shepherds.
A copy of the variant was sufficient to cause blue eyes, or heterochromia. However, some dogs carrying the variant did not have blue eyes, so other genetic or environmental factors are still involved. Future studies could lead to the discovery of a new pathway by which blue eyes develop in mammals.
"By using the genetic data from our customers' pets, combined with the eye colors reported by customers for these same animals, we have discovered a genetic duplication strongly associated with the color of blue eyes," said Sams. "This study demonstrates the strength of Embark's approach to improving canine health. In a single year, we collected enough data to conduct the largest dog study of this type. Embark is currently pursuing similar research projects across a range of morphological and health-related characteristics and we look forward to continuing to use our platform to advance dog genetics and health in a very real way. "
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