Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.
BMC Genet. 2011 Jan 26;12:16. doi: 10.1186/1471-2156-12-16.
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.
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.
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.
了解遗传性脊柱弯曲的遗传基础将有益于医学和水产养殖。在其他方面健康的儿童中（即特发性脊柱侧凸和Scheuermann 后凸），遗传性脊柱弯曲占所有脊柱弯曲的 80%以上，并通过支架、住院、手术和慢性背痛造成大量医疗保健费用。在水产养殖中，遗传性脊柱弯曲的患病率可高达 80%，因此会因生产损失而造成大量成本。遗传性脊柱弯曲的遗传基础尚不清楚，因此这项工作的目的是确定影响弯背孔雀鱼遗传性脊柱弯曲的数量性状位点 (QTL)。先前对弯背的研究表明，其表型与人类特发性脊柱侧凸相似，表明两者存在共同的畸形生物学途径。
在 LG14 上的初始作图交叉中检测到一个以隐性方式起作用并影响易感性的主要效应 QTL。在第二次交叉中，我们证实了这个易感性位点，并将其精细定位到一个 5cM 的区域，该区域解释了总表型方差的 82.6%。
我们确定了一个控制弯曲易感性的主要 QTL。该基因座包含超过 100 个基因，包括 MTNR1B，这是人类特发性脊柱侧凸的候选基因。在弯背孔雀鱼中鉴定与遗传性脊柱弯曲相关的基因，有可能阐明人类和经济上重要的硬骨鱼脊柱弯曲的生物学基础。
