上海交通大学徐让团队发现，ccdc141通过调控斑马鱼枯否氏泡的纤毛形成促进左右轴发育。这一研究成果于2024年7月22日在线发表在国际学术期刊《遗传学报》上。

研究人员利用斑马鱼模型和人类外显子组分析，阐明了含螺旋结构域的141号基因（CCDC141）在左右不对称缺陷中的功能。在斑马鱼中敲低ccdc141基因会破坏早期LR信号通路、纤毛功能和柯弗氏泡（KV）的形成。与表现出异常LR模式的ccdc141敲低胚胎不同，ccdc141基因敲除突变体并未显示出明显的异常，这表明可能存在基因补偿反应。与此同时，研究人员观察到ccdc141基因编辑鱼中的α-微管蛋白乙酰化水平显著降低。用组蛋白去乙酰化酶（HDAC）抑制剂，特别是HDAC6抑制剂处理后，ccdc141基因编辑鱼的表型得到了恢复。

此外，对70名患有左右不对称缺陷的患者进行的外显子组分析显示，CCDC141基因突变的负担增加，体内研究验证了患者突变CCDC141-R123G的致病性。这些研究结果突显了CCDC141在纤毛发生中的关键作用，并表明CCDC141突变会导致异常的左右不对称模式。因此，我们确认CCDC141是导致左右不对称缺陷的致病基因。

研究人员表示，体内左右不对称性是一个与胚胎发育过程中纤毛-中心体复合物密切相关的重要生理过程。该过程的缺陷可导致严重的器官错位。此前已知CCDC141是一个与中心体相关的基因，但其在左右不对称性中的作用尚未被表征。

附：英文原文

Title: ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer’s vesicle of zebrafish

Author: Rang Xu c

Issue&Volume: 2024/07/22

Abstract: The spin of electrons plays a vital role in chemical reactions and processes, and the excited state generated by the absorption of photons shows abundant spin-related phenomena. However, the importance of electron spin in photochemistry studies has been rarely mentioned or summarized. In this review, we briefly introduce the concept for spin photochemistry based on the spin multiplicity of excited state, which leads to the observation of various spin-related photophysical properties and photochemical reactivities. Then we focus on the recent advances in terms of light-induced magnetic properties, excited-state magneto-optical effects, and spin-dependent photochemical reactions. The review aims to provide a comprehensive overview to utilize the spin multiplicity of excited state in manipulating the above photophysical and photochemical processes. Finally, we discuss the existing challenges in the emerging field of spin photochemistry, and the future opportunities such as smart magnetic materials, optical information technology, and spin-enhanced photocatalysis.

DOI: 10.1016/j.jgg.2024.07.014

Source: https://academic.oup.com/nsr/advance-article/doi/10.1093/nsr/nwae244/7716713searchresult=1