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The effect of rod domain A148V mutation of neurofilament light chain on filament formation

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Author(s)
권택규
Alternative Author(s)
Kwon, Taeg Kyu
Publication Year
2008
Abstract
Neurofilaments (NFs) are neuronal intermediate filaments composed of light (NF-L), middle (NF-M), and heavy (NF-H) subunits. NF-L self-assembles into a "core" filament with which NF-M or NF-H co-assembles to form the neuronal intermediate filament. Recent reports show that point mutations of the NF-L gene result in Charcot-Marie-Tooth disease (CMT). However, the most recently described rod domain mutant of human NF-L (A148V) has not been characterized in cellular level. We cloned human NF-L and used it to engineer the A148V. In phenotypic analysis using SW13 cells, A148V mutation completely abolished filament formation despite of presence of NF-M. Moreover, A148V mutation reduced the levels of in vitro self-assembly using GST-NF-L (H/R) fusion protein whereas control (A296T) mutant did not affect the filament formation. These results suggest that alanine at position 148 is essentially required for NF-L self-assembly leading to subsequent filament formation in neuronal cells.
Keywords
A148V, Charcot-marie-tooth, Neurofilaments, Self-assembly, SW13 cells
Department
Dept. of Immunology (면역학)
Publisher
School of Medicine
Citation
BMB Reports, Vol.41(12) : 868-874, 2008
Type
Article
ISSN
1976-6696
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/35234
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