Laboratory for Bone Metabolism, Key Laboratory for Space Bioscience and Biotechnology, School of Life Sciences, Northwestern Polytechnical University, Xi'an, Shaanxi 710072, China; Shenzhen Research Institute of Northwestern Polytechnical University, Shenzhen, 518057, China; NPU-HKBU Joint Research Centre for Translational Medicine on Musculoskeletal Health in Space, Northwestern Polytechnical University, Xi'an 710072, China.
NPU-HKBU Joint Research Centre for Translational Medicine on Musculoskeletal Health in Space, Northwestern Polytechnical University, Xi'an 710072, China; Institute for Advancing Translational Medicine in Bone and Joint Diseases, School of Chinese Medicine, Hong Kong Baptist University, Hong Kong, China.
Semin Cell Dev Biol. 2017 Sep;69:3-8. doi: 10.1016/j.semcdb.2017.05.017. Epub 2017 May 31.
Spectraplakins are a family of evolutionarily conserved gigantic proteins and play critical roles in many cytoskeleton-related processes. Microtubule actin crosslinking factor 1 (MACF1) is one of the most versatile spectraplakin with multiple isoforms. As a broadly expressed mammalian spectraplakin, MACF1 is important in maintaining normal functions of many tissues. The loss-of-function studies using knockout mouse models reveal the pivotal roles of MACF1 in embryo development, skin integrity maintenance, neural development, bone formation, and colonic paracellular permeability. Mutation in the human MACF1 gene causes a novel myopathy genetic disease. In addition, abnormal expression of MACF1 is associated with schizophrenia, Parkinson's disease, cancer and osteoporosis. This demonstrates the crucial roles of MACF1 in physiology and pathology. Here, we review the research advances of MACF1's roles in specific tissue and in human diseases, providing the perspectives of MACF1 for future studies.
光谱蛋白是一类进化上保守的巨大蛋白，在许多与细胞骨架相关的过程中发挥着关键作用。微管肌动蛋白交联因子 1（MACF1）是最具多功能性的光谱蛋白之一，具有多种同工型。作为一种广泛表达的哺乳动物光谱蛋白，MACF1 对于维持许多组织的正常功能非常重要。利用基因敲除小鼠模型的功能丧失研究揭示了 MACF1 在胚胎发育、皮肤完整性维持、神经发育、骨形成和结肠旁细胞通透性中的关键作用。人类 MACF1 基因的突变导致一种新型的肌病遗传疾病。此外，MACF1 的异常表达与精神分裂症、帕金森病、癌症和骨质疏松症有关。这表明 MACF1 在生理和病理方面起着至关重要的作用。在这里，我们综述了 MACF1 在特定组织和人类疾病中的作用的研究进展，为未来的研究提供了 MACF1 的观点。
