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Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation

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タイトル: Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation
著者: Nishimura, Machiko 著作を一覧する
Nishie, Wataru 著作を一覧する
Shirafuji, Yoshinori 著作を一覧する
Shinkuma, Satoru 著作を一覧する
Natsuga, Ken 著作を一覧する
Nakamura, Hideki 著作を一覧する
Sawamura, Daisuke 著作を一覧する
Iwatsuki, Keiji 著作を一覧する
Shimizu, Hiroshi 著作を一覧する
発行日: 2016年 1月15日
出版者: Oxford University Press
誌名: Human molecular genetics
巻: 25
号: 2
開始ページ: 328
終了ページ: 339
出版社 DOI: 10.1093/hmg/ddv478
抄録: In skin, basal keratinocytes in the epidermis are tightly attached to the underlying dermis by the basement membrane (BM). The correct expression of hemidesmosomal and extracellular matrix (ECM) proteins is essential for BM formation, and the null-expression of one molecule may induce blistering diseases associated with immature BM formation in humans. However, little is known about the significance of post-translational processing of hemidesmosomal or ECM proteins in BM formation. Here we show that the C-terminal cleavage of hemidesmosomal transmembrane collagen XVII (COL17) is essential for correct BM formation. The homozygous p.R1303Q mutation in COL17 induces BM duplication and blistering in humans. Although laminin 332, a major ECM protein, interacts with COL17 around p.R1303, the mutation leaves the binding of both molecules unchanged. Instead, the mutation hampers the physiological C-terminal cleavage of COL17 in the ECM. Consequently, non-cleaved COL17 ectodomain remnants induce the aberrant deposition of laminin 332 in the ECM, which is thought to be the major pathogenesis of the BM duplication that results from this mutation. As an example of impaired cleavage of COL17, this study shows that regulated processing of hemidesmosomal proteins is essential for correct BM organization in skin.
Rights: This is a pre-copyedited, author-produced PDF of an article accepted for publication in Human Molecular Genetics following peer review. The version of record Hum. Mol. Genet. (2016) 25 (2): 328-339. is available online at:
資料タイプ: article (author version)
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 西村 真智子


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