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

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Author(s)
In-Bum LeeSung-Kuk KimSang-Hee ChungHo KimTaeg Kyu KwonDo Sik MinJong-Soo Chang
Keimyung Author(s)
Kwon, Taeg Kyu
Department
Dept. of Immunology (면역학)
Journal Title
BMB Reports
Issued Date
2008
Volume
41
Issue
12
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
Keimyung Author(s)(Kor)
권택규
Publisher
School of Medicine
Citation
In-Bum Lee et al. (2008). The effect of rod domain A148V mutation of neurofilament light chain on filament formation. BMB Reports, 41(12), 868–874.
Type
Article
ISSN
1976-6696
Source
http://www.bmbreports.org/journal/view.html?volume=41&number=12&spage=868
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/35234
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Immunology (면역학)
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