Six thousand pet dogs help find mutation for one breed's striking blue eyes: Research Highlights



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Genomics

Home-based genetic sampling uncovers Siberian Huskies' ice-blue stare.

The Siberian Husky owes its characteristic blue eyes to a genetic mutation.

In the largest canine study of its kind, Adam Boyko and Aaron Sams of Embark Veterinary in Boston, Massachusetts, and their colleagues analyzed by the owners of more than 3,100 dogs of various breeds. Blue eyes was generally rare, but in 75% of the blue-eyed animals, the team found a duplicated stretch of DNA on chromosome 18.

By contrast, this sequence rarely appeared in the genome of brown-eyed dogs. The duplication occurred near ALX4, a gene that is important in mammalian eye development. Analysis of nearly 3,000 more dogs confirmed a strong association between the mutation and blue eyes.

In Siberian Huskies, a single copy of the duplication. In other breeds, however, some animals with a single copy have brown eyes, suggesting that other genetic factors can interact with duplication's effect on eye color.

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