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Primary cilia in hard tissue development and diseases

《医学前沿（英文）》 2021年第15卷第5期页码 657-678 doi: 10.1007/s11684-021-0829-6

摘要： Bone and teeth are hard tissues. Hard tissue diseases have a serious effect on human survival and quality of life. Primary cilia are protrusions on the surfaces of cells. As antennas, they are distributed on the membrane surfaces of almost all mammalian cell types and participate in the development of organs and the maintenance of homeostasis. Mutations in cilium-related genes result in a variety of developmental and even lethal diseases. Patients with multiple ciliary gene mutations present overt changes in the skeletal system, suggesting that primary cilia are involved in hard tissue development and reconstruction. Furthermore, primary cilia act as sensors of external stimuli and regulate bone homeostasis. Specifically, substances are trafficked through primary cilia by intraflagellar transport, which affects key signaling pathways during hard tissue development. In this review, we summarize the roles of primary cilia in long bone development and remodeling from two perspectives: primary cilia signaling and sensory mechanisms. In addition, the cilium-related diseases of hard tissue and the manifestations of mutant cilia in the skeleton and teeth are described. We believe that all the findings will help with the intervention and treatment of related hard tissue genetic diseases.

关键词： primary cilia bone mechanical sensing hard tissue cilium-related bone disease tooth

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Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

《医学前沿（英文）》 doi: 10.1007/s11684-023-0997-7

摘要： Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.

关键词： primary ciliary dyskinesia CFAP54 cilia

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

《医学前沿（英文）》页码 957-971 doi: 10.1007/s11684-023-0988-8

摘要： Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms. Although nearly 50 causative genes have been identified, they only account for approximately 70% of definitive PCD cases. Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants are likely to cause PCD. Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia, and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella. Subsequently, animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD, including chronic respiratory infection, male infertility, and hydrocephalus. To the best of our knowledge, this study is the first to report DNAH10 deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation is causative of PCD.

关键词： DNAH10 mice motile cilia mutation primary ciliary dyskinesia

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鞭毛/纤毛内在驱动机制启发的一体式管状机器人驱动器 Article

苗佳麒, 张铁山, 李根, 郭栋, 孙思琦, 谭蓉, 史家海, 申亚京

《工程（英文）》 2023年第23卷第4期页码 170-180 doi: 10.1016/j.eng.2022.09.014

摘要：

鞭毛和纤毛独特的运动模式（如鞭毛的平面/螺旋波形式推进和纤毛的二维/三维不对称搏动）在众多生物的生命活动中起到至关重要的作用，这也启发了诸多仿生设计，尤其对于微型机器人系统。然而，与自然界中微生物能够从统一化的9 + 2 轴丝生物结构中进化出多种运动模式不同的是，当前的仿生学仍然没有有效的工程策略去实现这样的智慧。在此，我们通过研究鞭毛和纤毛的内部结构及其内在驱动机制，推导出了一个统一的物理模型来描述微管弯曲及其所构建的宏观鞭毛/纤毛运动。基于该模型，我们进而提出了基于三通道的管状驱动概念，并相应地通过杆嵌入铸造工艺制造了一个三通道的管状驱动器。通过编程不同通道的驱动模式，这一管状驱动器不仅可以再现自然界中多样的二维及三维鞭毛/纤毛运动，还可以延展出更多的非对称纤毛搏动模式以实现低雷诺数下的有效推进。该研究加深了我们对微生物推进机制的理解，为仿生系统的设计提供了新灵感，并有望在广泛的工程领域中寻找到重要的应用场景。

关键词：仿生系统软体驱动器 9 + 2结构人工纤毛低雷诺数