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

In Bum Lee, Sung Kuk Kim, Sang Hee Chung, Ho Kim, Taeg Kyu Kwon, Do Sik Min, Jong Soo Chang

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5 Citations (Scopus)


Neurofilamentes (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. [BMB reports 2008; 41(12): 868-874].

Original languageEnglish
Pages (from-to)868-874
Number of pages7
JournalJournal of biochemistry and molecular biology
Issue number12
Publication statusPublished - 2008 Dec

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology


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