sec24d encoding a component of COPII is essential for vertebra formation, revealed by the analysis of the medaka mutant, vbi
sec24d encoding a component of COPII is essential for vertebra formation, revealed by the analysis of the medaka mutant, vbi
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DOI：
10.1016/j.ydbio.2010.03.016
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发表时间：
2010-06-01
影响因子：
2.7
通讯作者：
Kudo, Akira
中科院分区：
文献类型：
--
作者：
Ohisa, Satoshi;Inohaya, Keiji;Kudo, Akira
我们描述了一种青少年突变体，椎骨不全症（vedral imperfecta，vbi），它表现出颅面畸形和椎骨形成延迟等骨骼缺陷。定位克隆分析显示，编码COPII外壳的一个组成部分，在从内质网（ER）到高尔基体的顺行蛋白运输中发挥作用的无义突变sec 24 d。免疫荧光分析显示，在vbi突变体的颅面软骨细胞，脊索细胞和肌间隔边界细胞的细胞质中II型胶原的积累。电子显微镜分析显示膨胀的ER和有缺陷的分泌ECM成分的细胞在颅面软骨和脊索在VBI。高等脊椎动物至少有4个sec 24旁系同源物;然而，每个旁系同源物在发育中的功能仍然未知。sec 24 d在富含细胞外基质的组织中高度表达，并且对于导致颅面软骨和椎骨形成的ECM组分分子的分泌是必需的。(C)2010年爱思唯尔公司All rights reserved.
We characterized a medaka mutant, vertebra imperfecta (vbi), that displays skeletal defects such as craniofacial malformation and delay of vertebra formation. Positional cloning analysis revealed a nonsense mutation in sec24d encoding a component of the COPII coat that plays a role in anterograde protein trafficking from the endoplasmic reticulum (ER) to the Golgi apparatus. Immunofluorescence analysis revealed the accumulation of type II collagen in the cytoplasm of craniofacial chondrocytes, notochord cells, and the cells on the myoseptal boundary in vbi mutants. Electron microscopy analysis revealed dilation of the ER and defective secretion of ECM components from cells in both the craniofacial cartilage and notochord in vbi. The higher vertebrates have at least 4 sec24 paralogs; however, the function of each paralog in development remains unknown. sec24d is highly expressed in the tissues that are rich in extracellular matrix and is essential for the secretion of ECM component molecules leading to the formation of craniofacial cartilage and vertebra. (C) 2010 Elsevier Inc. All rights reserved.