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Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex

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Title: Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex
Authors: Natsuga, Ken Browse this author →KAKEN DB
Nishie, Wataru Browse this author →KAKEN DB
Nishimura, Machiko Browse this author
Shinkuma, Satoru Browse this author →KAKEN DB
Watanabe, Mika Browse this author
Izumi, Kentaro Browse this author →KAKEN DB
Nakamura, Hideki Browse this author →KAKEN DB
Hirako, Yoshiaki Browse this author
Shimizu, Hiroshi Browse this author →KAKEN DB
Keywords: epidermolysis bullosa simplex
mutation
PLEC
plectin
type XVII collagen
Issue Date: Dec-2017
Publisher: John Wiley & Sons
Journal Title: Human mutation
Volume: 38
Issue: 12
Start Page: 1666
End Page: 1670
Publisher DOI: 10.1002/humu.23344
PMID: 28941359
Abstract: Plectin is a linker protein that interacts with intermediate filaments and 4 integrin in hemidesmosomes of the epidermal basement membrane zone (BMZ). Type XVII collagen (COL17) has been suggested as another candidate plectin binding partner in hemidesmosomes. Here, we demonstrate that plectin-COL17 binding helps to maintain epidermal BMZ organization. We identified an epidermolysis bullosa (EB) simplex patient as having markedly diminished expression of plectin and COL17 in skin. The patient is compound heterozygous for sequence variants in the plectin gene (PLEC); one is a truncation and the other is a small in-frame deletion sequence variant. The in-frame deletion is located in the putative COL17-binding domain of plectin and abolishes the plectin-COL17 interaction in vitro. These results imply that disrupted interaction between plectin and COL17 is involved in the development of EB. Our study suggests that protein-protein binding defects may underlie EB in patients with unidentified disease-causing sequence variants.
Rights: This is the peer reviewed version of the following article: Natsuga K, Nishie W, Nishimura M, et al. Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. Human Mutation. 2017;38:1666–1670, which has been published in final form at https://doi.org/10.1002/humu.23344. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
Type: article (author version)
URI: http://hdl.handle.net/2115/72082
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 夏賀 健

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