编码了轴膜内-丁氨酸调节复合体的一个组成部分的CCDC65,对于人类的精子鞭毛结构是必需的
Fadwa Jreijiri1, Emma Cavarocchi1, Amir Amiri-Yekta2
1Institute for Advanced Biosciences, INSERM U1209, CNRS UMR5309, Université Grenoble Alpes, Grenoble, France.
Clinical genetics
|November 17, 2023
概括
与原发性乳发动障碍 (PCD) 相关的CCDC65基因的突变会导致多种精子鞭毛异常 (MMAF) 和男性不孕症. 这项研究揭示了CCDC65的结果.
科学领域:
- 生殖生物学 生殖生物学
- 细胞生物学 细胞生物学
- 遗传学 是一个遗传学.
背景情况:
- 精子鞭毛和运动共享保存的微管结构.
- 男性不孕症可以是孤立的或综合症的,如初级乳发育不良症 (PCD) 中所见.
- 精子鞭毛的多重形态异常 (MMAF) 是一种影响精子结构的疾病.
研究的目的:
- 研究CCDC65基因在精子鞭状体结构和功能中的作用.
- 确定与MMAF和男性不孕症相关的CCDC65中的遗传变异.
- 建立CCDC65突变,精子缺陷和潜在的PCD之间的联系.
主要方法:
- 对两名与MMAF无关的患者进行基因分析,以确定CCDC65变异.
- 蛋白质分析以评估患者精子中的CCDC65和GAS8水平.
- 在精子细胞中CCDC65变异的功能特征.
主要成果:
- 在两名患有MMAF的患者中,确定了CCDC65中明显的同卵性截断变体.
- 在患有特征变异的患者精子中,已证明CCDC65蛋白几乎不存在.
- 在患者的精子中观察到GAS8的损失,这是另一种Nexin-Dynein调节复合体 (N-DRC) 成分.
- 证实CCDC65对于精子鞭子结构至关重要,类似于状轴突.
结论:
- 与PCD相关的基因CCDC65中的突变会导致MMAF和精 (精子运动能力受损).
- CCDC65对于保持精子鞭状体完整性至关重要.
- 这项研究提供了第一个证据,将CCDC65基因突变与PCD之外的男性不孕症联系起来.
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