期刊
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 69, 期 -, 页码 3-8出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2017.05.017
关键词
MACF1; Spectraplakin; Knockout mouse model; Tissue-specific function; Human disease
资金
- National Natural Science Foundation of China [31400725, 31570940]
- China Postdoctoral Science Foundation [2015T81051, 2017M610653]
- Young Talent Fund of University Association for Science and Technology in Shaanxi, China [20170401]
- Fundamental Research Funds for the Central Universities [3102016ZY037]
- Shenzhen Science and Technology Project [JCYJ20160229174320053]
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. (C) 2017 Published by Elsevier Ltd.
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