Zebrafish inversin mutants develop scoliosis in the absence of laterality defects.

IF 1.5 3区生物学 Q2 ANATOMY & MORPHOLOGY

Developmental Dynamics Pub Date : 2026-05-21 DOI:10.1002/dvdy.70147

Christopher J Derrick, Lorraine Eley, Deborah J Henderson, Bill Chaudhry

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Abstract

Background: Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function. We set out to characterize the invs^sa12246 allele in zebrafish to investigate its utility in understanding patient disease.

Results: The left-right axis is established correctly in invs^sa12246 mutants, kidneys appear to develop normally without any cysts and cilia appear normal, however mutants are significantly shorter. In post-embryonic stages, invs^sa12246 mutants display significant growth delay and signs of retinal mis-patterning together with spinal deformities reminiscent of idiopathic scoliosis. The allele is lethal in the juvenile stage.

Conclusions: We show that invs^sa12246 allele has a distinct phenotype from other models where inversin function is disrupted, uncovering novel roles in post-embryonic development.

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斑马鱼逆转录突变体在没有侧侧缺陷的情况下发展为脊柱侧凸。

背景：人类INVERSIN基因突变与肾肾病、逆转录位点变异外显率和先天性心脏病有关。逆转录酶已被证明定位于纤毛，许多患者的表型归因于纤毛功能的破坏。我们开始对斑马鱼中的invssa12246等位基因进行表征，以研究其在了解患者疾病方面的效用。结果：invssa12246突变体的左右轴建立正确，肾脏发育正常，无囊肿，纤毛正常，但突变体明显变短。在胚胎后期，invssa12246突变体表现出明显的生长延迟和视网膜错误模式的迹象，并伴有脊柱畸形，令人想起特发性脊柱侧凸。这种等位基因在幼年期是致命的。结论：我们发现invssa12246等位基因与其他逆转录功能被破坏的模型具有不同的表型，揭示了在胚胎后发育中的新作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Developmental Dynamics 生物-发育生物学

CiteScore

5.10

自引率

8.00%

发文量

116

审稿时长

3-8 weeks

期刊介绍： Developmental Dynamics, is an official publication of the American Association for Anatomy. This peer reviewed journal provides an international forum for publishing novel discoveries, using any model system, that advances our understanding of development, morphology, form and function, evolution, disease, stem cells, repair and regeneration.