When the group looked for other breeds that shared the DNA sequence in this region, they found that it was in the chondrodystrophic breeds such as beagles, dachshunds and spaniels. Thanks to an extensive biorepository amassed at the UC Davis veterinary hospital over the past 15 years, Bannasch and her team were able to look at the DNA from cases with IVDD from a variety of dog breeds, which showed the same region was implicated. The hunt for the actual mutation took lots of hard work from DVM/Ph.D. student Emily Brown, who completed her doctoral thesis using this project. At first, the results weren’t revealing. It took meticulous combing through the genetic sequence by eye to detect the presence of an FGR4 retrogene insertion. Once Bannasch realized what they had uncovered, she went screaming down the hall with excitement. “It was kind of like looking for a needle in a haystack,” she said. “But I knew it was there somewhere.” The FGF4 retrogene is an important molecule involved in development. When its receptor FGF3R is mutated, it can also lead to dwarfism in humans.
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