Dog DNA company discovers why huskies have blue eyesOctober 8, 2018A duplication on canine chromosome 18 is behind Siberian huskies' blue eyes, according to a study published in PLOS Genetics by Adam Boyko, PhD, founder and CEO of Embark Veterinary, and Aaron Sams, PhD, senior scientist at Embark Veterinary Inc. and colleagues. According to the authors, this is the first consumer genomics study conducted in a nonhuman model and the largest canine genome-wide association study to date (the DNA of 6,000 dogs was tested). Embark Veterinary is a DNA research company with offices in Boston and Ithaca, N.Y., and a research partner of the Cornell University College of Veterinary Medicine. Boyko, Sams, and colleagues used a diverse panel of 6,070 genetically tested dogs from owners that contributed phenotype data via web-based surveys and photo uploads. They found that a 98.6-kilobase duplication on chromosome 18 near the ALX4 gene, which plays an important role in mammalian eye development, was strongly associated with variation in blue eye color, primarily in Siberian huskies but also in nonmerle Australian shepherds. One copy of the variant was enough to cause blue eyes, or heterochromia. However, some dogs with the variant did not have blue eyes, so other genetic or environmental factors are still involved. …
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