Physiological Role of Mysterin/RNF213 in Zebrafish
Physiological Role of Mysterin/RNF213 in Zebrafish
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DOI：
10.1007/978-981-10-2711-6_5
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发表时间：
2017
期刊：
影响因子：
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通讯作者：
Daisuke Morito;K. Nagata
中科院分区：
文献类型：
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作者：
Daisuke Morito;K. Nagata
Mysterin，也称为RNF 213，是一种非常大的细胞内蛋白质，分子量为591 kDa，功能未知。长期的遗传分析最终显示，其C-末端突变（R4810 K）是烟雾病的关键遗传因素，烟雾病是一种遗传性特发性脑血管疾病，在大脑中的有限部位发生动脉狭窄和闭塞。虽然其病理机制仍不清楚，但一个主要的假设是mysterin在血管中起作用，R4810 K突变干扰了mysterin的血管功能，导致烟雾病的发展。mysterin参与正常血管结构和/或功能的第一个证据是从斑马鱼获得的，斑马鱼是一种功能强大的模式脊椎动物。在本章中，我们概述了mysterin敲除/敲除斑马鱼的血管和其他表型，并讨论了其在体内可能的作用。
Mysterin, also known as RNF213, is a very large intracellular protein of 591 kDa with unknown function. Long-standing genetic analyses ultimately revealed that its C-terminal mutation (R4810K) is the key genetic factor for moyamoya disease, an inheritable idiopathic cerebrovascular disorder with arterial stenosis and occlusion at a limited site in the brain. Although the pathologic mechanism has remained largely unclear, a leading hypothesis is that mysterin plays a role in the blood vessel and that the R4810K mutation interferes with the vascular function of mysterin, resulting in the development of moyamoya disease. The first evidence that mysterin participates in normal vascular structure and/or function was obtained from zebrafish, a powerful model vertebrate. In this chapter, we overview the vascular and other phenotypes ofmysterinknockdown/knockout zebrafish and discuss its possible roles in vivo.