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Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss
http://hdl.handle.net/10091/00021594
http://hdl.handle.net/10091/0002159482360b42-614c-4ac5-be3b-1cc4fa471620
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
26293369_02.pdf (3.9 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2019-09-09 | |||||
| タイトル | ||||||
| タイトル | Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.15252/emmm.201606609 | |||||
| 関連名称 | 10.15252/emmm.201606609 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | actin | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | deafness | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | DIAPH1 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | DFNA1 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | stereocilia | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Ueyama, Takehiko
× Ueyama, Takehiko× Ninoyu, Yuzuru× Nishio, Shin-ya× Miyoshi, Takushi× Torii, Hiroko× Nishimura, Koji× Sugahara, Kazuma× Sakata, Hideaki× Thumkeo, Dean× Sakaguchi, Hirofumi× Watanabe, Naoki× Usami, Shin-ichi× Saito, Naoaki× Kitajiri, Shin-ichiro |
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| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Nishio, Shin-ya | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.uCSmPpym.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Usami, Shin-ichi | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.ZmAUHUSC.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Kitajiri, Shin-ichiro | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.jUTCupyC.html | |||||
| 出版者 | ||||||
| 出版者 | WILEY | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | EMBO MOLECULAR MEDICINE.8(11):1310-1324(2016) | |||||
| 書誌情報 |
EMBO MOLECULAR MEDICINE 巻 8, 号 11, p. 1310-1324, 発行日 2016-10-05 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | DIAPH1 encodes human DIA1, a formin protein that elongates unbranched actin. The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood. The mutation occurs near the C-terminus of the diaphanous autoregulatory domain (DAD) of DIA1, which interacts with its N-terminal diaphanous inhibitory domain (DID), and may engender constitutive activation of DIA1. However, the underlying pathogenesis that causes DFNA1 is unclear. We describe a novel patient-derived DIAPH1 mutation (c.3610C>T) in two unrelated families, which results in early termination prior to a basic amino acid motif (RRKR1204-1207) at the DAD C-terminus. The mutant DIA1(R1204X) disrupted the autoinhibitory DID-DAD interaction and was constitutively active. This unscheduled activity caused increased rates of directional actin polymerization movement and induced formation of elongated microvilli. Mice expressing FLAG-tagged DIA1(R1204X) experienced progressive deafness and hair cell loss at the basal turn and had various morphological abnormalities in stereocilia (short, fused, elongated, sparse). Thus, the basic region of the DAD mediates DIA1 autoinhibition; disruption of the DID-DAD interaction and consequent activation of DIA1(R1204X) causes DFNA1. | |||||
| 資源タイプ（コンテンツの種類） | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Article | |||||
| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 1757-4676 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA12488115 | |||||
| PubMed | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://www.ncbi.nlm.nih.gov/pubmed/27707755 | |||||
| 関連名称 | 27707755 | |||||
| 権利 | ||||||
| 権利情報 | © 2016 The Authors. This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| WoS | ||||||
| 表示名 | Web of Science | |||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000387111900006 | |||||
