Gorman Kristen F, Tredwell Stephen J, Breden Felix
Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.
Spine (Phila Pa 1976). 2007 Apr 1;32(7):735-41. doi: 10.1097/01.brs.0000259081.40354.e2.
This study investigated the morphology, pathogenesis, and inheritance of idiopathic-like spinal curvature in the guppy syndrome, curveback.
To determine whether curveback could be applied as a model for the primary factors that contribute to heritable spinal curvature in humans, specifically, the etiopathogenesis of human familial idiopathic scoliosis.
Although a genetic basis is accepted, phenotypic complexity and the lack of an animal model with noninduced curvature have made identification of idiopathic scoliosis etiology difficult. It is well established that humans and fish share many genes with similar tissue and temporal expression characteristics, and comparisons between human and fish genomes have proven to be valuable for understanding the genetics of diseases affecting humans.
The curveback lineage of guppies was constructed from a single curved male crossed to a normal female. Offspring (103) from the original cross were scored from birth until death for the presence and magnitude of spinal curvature. Genetic architecture was investigated through selective inbreeding, analysis of the distribution of curve magnitude in the mature population, and assessment of curve dynamics during development. Computed tomography assessed vertebral detail.
Computed tomography reveals that vertebral breakage or fusion is not associated with the curveback syndrome. Inbreeding demonstrates a strong genetic influence on curveback, and the distribution of curve magnitude among adult fish suggests polygenic inheritance. There is a female bias for curves of high magnitude and curves that resolve before maturity. There is developmental variability for the age of curve onset, curve progression, and final curve magnitude.
Observed parallels between the curveback syndrome and human idiopathic scoliosis suggest that the guppy model is an unexploited resource for the identification of primary etiological factors involved in curvature. As models for biomedical research, teleosts offer great potential regarding spinal stability and deformity.
本研究调查了孔雀鱼综合征（脊柱后凸）中特发性脊柱侧弯样的形态学、发病机制及遗传情况。
确定脊柱后凸是否可作为人类遗传性脊柱侧弯主要因素的模型，特别是人类家族性特发性脊柱侧弯的病因发病机制。
尽管遗传基础已被认可，但表型复杂性以及缺乏非诱导性脊柱侧弯的动物模型使得特发性脊柱侧弯病因的鉴定变得困难。众所周知，人类和鱼类共享许多具有相似组织和时间表达特征的基因，并且人类和鱼类基因组之间的比较已被证明对于理解影响人类的疾病遗传学很有价值。
孔雀鱼的脊柱后凸品系由一条弯曲雄鱼与一条正常雌鱼杂交构建而成。对原始杂交后代（103条）从出生到死亡进行脊柱侧弯的存在情况及严重程度评分。通过选择性近亲繁殖、分析成熟群体中弯曲程度的分布以及评估发育过程中的弯曲动态来研究遗传结构。计算机断层扫描评估椎体细节。
计算机断层扫描显示椎体骨折或融合与脊柱后凸综合征无关。近亲繁殖表明脊柱后凸受强烈的遗传影响，成年鱼中弯曲程度的分布表明其为多基因遗传。在高弯曲程度以及成熟前缓解的弯曲方面存在雌性偏向。弯曲开始的年龄、弯曲进展和最终弯曲程度存在发育变异性。
观察到的脊柱后凸综合征与人类特发性脊柱侧弯之间的相似性表明，孔雀鱼模型是鉴定参与脊柱侧弯的主要病因学因素的未开发资源。作为生物医学研究的模型，硬骨鱼在脊柱稳定性和畸形方面具有巨大潜力。
