RNF213 as a Susceptibility Gene for Moyamoya Disease has Multifunctional Roles in Biological Processes
RNF213 as a Susceptibility Gene for Moyamoya Disease has Multifunctional Roles in Biological Processes
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DOI：
10.1007/978-981-33-6404-2_4
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Hatasu Kobayashi;Kouji H. Harada;T. Habu;Y. Nakamura;Jiyeong Kim;A. Koizumi
中科院分区：
文献类型：
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作者：
Hatasu Kobayashi;Kouji H. Harada;T. Habu;Y. Nakamura;Jiyeong Kim;A. Koizumi
RNF213已被确定为烟雾病（MMD）的易感基因，RNF213 p是一种罕见的始创变异。R4810K显著增加东亚人群患烟雾病的风险。RNF213是一种巨大的蛋白，含有两个串联AAA+ atp酶结构域和一个无名指结构域。尽管RNF213的生理和病理作用在很大程度上尚不清楚，但据报道，RNF213参与了多种生物过程，这些过程可能与对几种应激源的易感性有关。在本章中，我们回顾了RNF213的功能特性，特别关注其变体，如p.R4810K，以及在一些应力模型中报道的RNF213相关易感性。然而，RNF213 p.R4810K的低外显率表明，除了遗传易感性外，环境因素在烟雾病的发展中也起着重要作用。我们还介绍了我们正在进行的有关rnf213介导的烟雾病发展的环境因素的研究和中间结果。
RNF213 has been identified as a susceptibility gene for moyamoya disease (MMD), and a rare founder variant in RNF213 p. R4810K markedly increases the risk of MMD in East Asian populations. RNF213, a huge protein, harbors two tandem AAA+ ATPase domains and a ring finger domain. Although the physiological and pathological roles of RNF213 are largely obscure, RNF213 has been reported to be involved in various biological processes, and these processes are possibly linked to susceptibilities to several stressors. In this chapter, we review the functional properties of RNF213, focusing particularly on its variants such as p.R4810K, and the RNF213-associated susceptibilities reported in some stress models. The low penetrance of RNF213 p.R4810K, however, implies that environmental factors play an essential role in MMD development in addition to genetic predisposition. We also introduce our ongoing research and intermediate results on the environmental factors involved in RNF213-mediated MMD development.