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Title 

CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis

Authors 

S M LimY E KimW J ChoiK W OhM Y NohM S KwonM NahmNamshin KimC S KiS H Kim

Publisher 

Impact Journals

Issue Date 

2016

Citation 

Oncotarget, vol. 0, no. 0, pp. 0-0

Keywords 

Amyotrophic lateral sclerosisC-type lectinDilysine motifEr retentionWhole-exome sequencing

Abstract 

The type II C-type lectin CLEC4C is a transmembrane protein selectively expressed on plasmacytoid dendritic cells (PDCs). Although its mechanism of action remains unclear, triggering of the extracellular C-terminal C-type carbohydrate recognition region of CLEC4C regulates the secretion of proinflammatory cytokines and type I IFNs in PDCs. Applying whole-exome sequencing in a patient with juvenile amyotrophic lateral sclerosis (ALS) and both healthy parents, we identified a de novo CLEC4C variant (c.629_631delAGA; p.Lys210del). In this study, we report that the deletion of a lysine residue at the extracellular region of CLEC4C yields a C-terminal dilysine motif that results in endoplasmic reticulum (ER) retention of the protein in transfected HeLa and Jurkat T lymphoma cell models. As a consequence, a decrease in the surface expression of CLEC4C and the ER localization of the mutant construct were observed. Furthermore, depletion of the cell surface CLEC4C level was also observed in the patient PDCs, further suggesting that the variant p.Lys210del CLEC4C may contribute to juvenile ALS susceptibility.

ISSN 

1949-2553

Link 

http://dx.doi.org/10.18632/oncotarget.7886

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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