# title
FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs.

# abstract
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed (PBonferroni = 0.01) and intervertebral disc disease (IVDD) across breeds (PBonferroni = 4.0  10-10) both identified a significant association to the same region on CFA12. Whole genome sequencing identified a highly expressed FGF4 retrogene within this shared region. The FGF4 retrogene segregated with limb length and had an odds ratio of 51.23 (95% CI = 46.69, 56.20) for IVDD. Long bone length in dogs is a unique example of multiple disease-causing retrocopies of the same parental gene in a mammalian species. FGF signaling abnormalities have been associated with skeletal dysplasia in humans, and our findings present opportunities for both selective elimination of a medically and financially devastating disease in dogs and further understanding of the ever-growing complexity of retrogene biology.

# publicationVenue.label
Proceedings of the National Academy of Sciences of the United States of America

# authors[].organizations[].label
College of Veterinary Medicine and Biomedical Sciences

# publisher.label
Proceedings of the National Academy of Sciences

# authorList[]
Brown, E. A., Dickinson, P. J., Mansour, T., Sturges, B. K., Aguilar, M., Young, A. E., ... Bannasch, D. L.