Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation
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DOI：
10.1111/gtc.12715
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发表时间：
2019-10
期刊：
影响因子：
2.1
通讯作者：
Kanoko Yanagi;Ryota Sone;R. Ohga;A. Kawahara
中科院分区：
文献类型：
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作者：
Kanoko Yanagi;Ryota Sone;R. Ohga;A. Kawahara
哺乳动物CEP55（centrosomal protein 55 kDa）是位于间期细胞中心体的卷曲螺旋蛋白，是胞质分裂所必需的。最近在围产期致死性MARCH（多核神经元、羊水过少、肾发育不良、小脑发育不全和积水性无脑畸形）综合征中发现了人CEP 55的纯合无义突变。我们已经分离出斑马鱼cep55突变体的头部形态缺陷。斑马鱼cep55基因在受精后1天（dpf）在头部（包括视网膜和胸鳍）表达，在cep55突变体的头部和尾部广泛观察到细胞死亡。在cep55突变体中，腹侧咽弓的前后距离较短，视网膜层结构紊乱。在cep55突变体的头部，神经细胞，如islet1阳性细胞和pax 2阳性细胞，以及fli1b阳性血管细胞减少。因此，我们建议斑马鱼cep55突变体是人类MARCH综合征的模式生物。
Mammalian CEP55 (centrosomal protein 55 kDa) is a coiled‐coil protein localized to the centrosome in interphase cells and is required for cytokinesis. A homozygous non‐sense mutation in human CEP55 has been recently identified in perinatal lethal MARCH (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly) syndrome. We have isolated zebrafish cep55 mutants defective in head morphology. The zebrafish cep55 gene was expressed in the head including the retina and the pectoral fin at 1 day post‐fertilization (dpf), and extensive cell death was widely observed in the head and tail of the cep55 mutant. In the cep55 mutant, the anterior–posterior distance of the ventral pharyngeal arches was short, and retinal lamination was disorganized. Neural cells, such as islet1‐positive cells and pax2‐positive cells, and fli1b‐positive vascular cells were reduced in the head of the cep55 mutant. Thus, we propose that the zebrafish cep55 mutant is a model organism for human MARCH syndrome.