Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Trends Genet. 2017 Mar;33(3):183-196. doi: 10.1016/j.tig.2017.01.001. Epub 2017 Feb 4.
Idiopathic scoliosis (IS) refers to a 3D rotation of the spine that occurs in the absence of underlying vertebral anomalies or obvious physiological defects. Despite affecting approximately 4% of the population, the etiology and pathogenesis of IS remain poorly understood, largely due to genetic heterogeneity and historical lack of appropriate developmental models. Recently, zebrafish has emerged as a powerful system for studying IS, owing to well-developed genetic resources and a natural susceptibility to spinal curvatures. Here, we summarize the utility of zebrafish as a genetic and biological model of IS, examine current faithful mutant IS models, and focus on their recent advances towards understanding core mechanisms governing both normal spine morphogenesis and the pathogenesis of IS-like spinal deformities.
特发性脊柱侧凸(IS)是指脊柱在没有潜在的椎体异常或明显的生理缺陷的情况下发生的三维旋转。尽管大约有 4%的人口受到影响,但 IS 的病因和发病机制仍不清楚,这主要是由于遗传异质性和历史上缺乏适当的发育模型。最近,斑马鱼作为研究 IS 的强大系统已经出现,这得益于其发达的遗传资源和对脊柱弯曲的天然易感性。在这里,我们总结了斑马鱼作为 IS 的遗传和生物学模型的用途,检查了当前忠实的突变体 IS 模型,并专注于它们在理解正常脊柱形态发生和 IS 样脊柱畸形发病机制的核心机制方面的最新进展。