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Open Access Research article

A major QTL controls susceptibility to spinal curvature in the curveback guppy

Kristen F Gorman1*, Julian K Christians1, Jennifer Parent1, Roozbeh Ahmadi1, Detlef Weigel2, Christine Dreyer2 and Felix Breden1

  • * Corresponding author: Kristen F Gorman kfg@sfu.ca

Author Affiliations

1 Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada

2 Department of Molecular Biology at the Max Planck Institute for Developmental Biology, Tübingen, Germany

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BMC Genetics 2011, 12:16  doi:10.1186/1471-2156-12-16

Published: 26 January 2011

Abstract

Background

Understanding the genetic basis of heritable spinal curvature would benefit medicine and aquaculture. Heritable spinal curvature among otherwise healthy children (i.e. Idiopathic Scoliosis and Scheuermann kyphosis) accounts for more than 80% of all spinal curvatures and imposes a substantial healthcare cost through bracing, hospitalizations, surgery, and chronic back pain. In aquaculture, the prevalence of heritable spinal curvature can reach as high as 80% of a stock, and thus imposes a substantial cost through production losses. The genetic basis 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 demonstrated phenotypic 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 in an initial mapping cross on LG 14. In a second cross, we confirmed this susceptibility locus and fine mapped it to a 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 with heritable spinal curvature in the curveback guppy has the potential to elucidate the biological basis of spinal curvature among humans and economically important teleosts.