A Major QTL Controls Susceptibility to Spinal Curvature in the Curveback Guppy

Background: Understanding the genetic basis of heritable spinal curvature would benefit medicine andaquaculture. Heritable spinal curvature among otherwise healthy children (i.e. Idiopathic Scoliosis and Scheuermannkyphosis) accounts for more than 80% of all spinal curvatures and imposes a substantial healthcare cost throughbracing, hospitalizations, surgery, and chronic back pain. In aquaculture, the prevalence of heritable spinal curvaturecan reach as high as 80% of a stock, and thus imposes a substantial cost through production losses. The geneticbasis of heritable spinal curvature is unknown and so the objective of this work is to identify quantitative trait loci(QTL) affecting heritable spinal curvature in the curveback guppy. Prior work with curveback has demonstratedphenotypic parallels to human idiopathic-type scoliosis, suggesting shared biological pathways for the deformity.Results: A major effect QTL that acts in a recessive manner and accounts for curve susceptibility was detected inan initial mapping cross on LG 14. In a second cross, we confirmed this susceptibility locus and fine mapped it toa 5 cM region that explains 82.6% of the total phenotypic variance.Conclusions: We identify a major QTL that controls susceptibility to curvature. This locus contains over 100 genes,including MTNR1B, a candidate gene for human idiopathic scoliosis. The identification of genes associated withheritable spinal curvature in the curveback guppy has the potential to elucidate the biological basis of spinalcurvature among humans and economically important teleosts.