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 (P_Bonferroni = 0.01) and intervertebral disc disease (IVDD) across breeds (P_Bonferroni = 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 i

SUBMITTER: Brown EA 

PROVIDER: S-EPMC5664524 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature