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 in Siberian Huskies
DNA testing of more than 6,000 dogs has revealed that a replication on canine chromosome 18 is strongly linked with blue eyes in Siberian Huskies, according to a study published in the open-access journal PLOS Genetics. Embark, a dog DNA Startup Company partnered with Cornell University College of Veterinary Medicine. According to the authors, this is the first consumer genomics study ever conducted in a non-human model.
Consumer genomics allows genetic discovery on an unparalleled scale by relating very large databases of genomic data with phenotype data voluntarily submitted through web-based surveys. But the potential of consumer genomic data is not restricted to human research.
One replica of the variant was enough to cause ‘heterochromia’ i.e. blue and brown eyes, although some dogs with the same did not have blue eyes, so other hereditary or environmental factors may be still involved. Forthcoming studies of the practical mechanism underlying this link may lead to the discovery of a fresh trail by which blue eyes develop in mammals.