TY - JOUR
T1 - MACF1, versatility in tissue-specific function and in human disease
AU - Hu, Lifang
AU - Xiao, Yunyun
AU - Xiong, Zhipeng
AU - Zhao, Fan
AU - Yin, Chong
AU - Zhang, Yan
AU - Su, Peihong
AU - Li, Dijie
AU - Chen, Zhihao
AU - Ma, Xiaoli
AU - ZHANG, Ge
AU - Qian, Airong
N1 - Funding Information:
This work was supported by the National Natural Science Foundation of China (grant numbers 31400725 , 31570940 ), the Project Funded by China Postdoctoral Science Foundation (grant number 2015T81051 , 2017M610653 ), Young Talent Fund of University Association for Science and Technology in Shaanxi, China (20170401), the Fundamental Research Funds for the Central Universities (grant number 3102016ZY037 ), and the Shenzhen Science and Technology Project (grant number JCYJ20160229174320053 ).
Funding Information:
This work was supported by the National Natural Science Foundation of China (grant numbers 31400725, 31570940), the Project Funded by China Postdoctoral Science Foundation (grant number 2015T81051, 2017M610653), Young Talent Fund of University Association for Science and Technology in Shaanxi, China (20170401), the Fundamental Research Funds for the Central Universities (grant number 3102016ZY037), and the Shenzhen Science and Technology Project (grant number JCYJ20160229174320053).
PY - 2017/9
Y1 - 2017/9
N2 - 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.
AB - 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.
KW - Human disease
KW - Knockout mouse model
KW - MACF1
KW - Spectraplakin
KW - Tissue-specific function
UR - http://www.scopus.com/inward/record.url?scp=85023600329&partnerID=8YFLogxK
U2 - 10.1016/j.semcdb.2017.05.017
DO - 10.1016/j.semcdb.2017.05.017
M3 - Review article
C2 - 28577926
AN - SCOPUS:85023600329
SN - 1084-9521
VL - 69
SP - 3
EP - 8
JO - Seminars in Cell and Developmental Biology
JF - Seminars in Cell and Developmental Biology
ER -
