Peer-reviewed veterinary case report
Retrogene on dog chromosome 12 causes short legs and disc disease
By Brown, Emily A et al.·Published in Proceedings of the National Academy of Sciences of the United States of America·2017·Department of Population Health and Reproduction, United States·View original on PubMed →
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Original publication title: retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs.
- Species:
- dog
Plain-English summary
A study found that a specific genetic factor on chromosome CFA12 is linked to chondrodystrophy (shortened long bones) and intervertebral disc disease (IVDD) in dogs. This means that certain breeds may be more prone to these conditions due to this genetic marker. The research suggests that understanding this gene could help in reducing the occurrence of these painful and debilitating diseases in dogs. By identifying the genetic cause, veterinarians may be able to better manage or even prevent these issues in affected breeds.
People also search for: dog intervertebral disc disease symptoms · chondrodystrophy in dogs · IVDD treatment options for 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 (= 0.01) and intervertebral disc disease (IVDD) across breeds (= 4.0 × 10) both identified a significant association to the same region on CFA12. Whole genome sequencing identified a highly expressedretrogene within this shared region. Theretrogene 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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29073074/