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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

http://hdl.handle.net/10091/00021593
f3dc3317-31d8-4bbb-b242-8ce95868c771
名前 / ファイル ライセンス アクション
26293369_01.pdf 26293369_01.pdf (99.4 MB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2019-09-09
タイトル
言語 en
タイトル A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Seki, Yuta

× Seki, Yuta

WEKO 108247

en Seki, Yuta

Search repository
Miyasaka, Yuki

× Miyasaka, Yuki

WEKO 108248

en Miyasaka, Yuki

Search repository
Suzuki, Sari

× Suzuki, Sari

WEKO 108249

en Suzuki, Sari

Search repository
Wada, Kenta

× Wada, Kenta

WEKO 108250

en Wada, Kenta

Search repository
Yasuda, Shumpei P.

× Yasuda, Shumpei P.

WEKO 108251

en Yasuda, Shumpei P.

Search repository
Matsuoka, Kunie

× Matsuoka, Kunie

WEKO 108252

en Matsuoka, Kunie

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Ohshiba, Yasuhiro

× Ohshiba, Yasuhiro

WEKO 108253

en Ohshiba, Yasuhiro

Search repository
Endo, Kentaro

× Endo, Kentaro

WEKO 108254

en Endo, Kentaro

Search repository
Ishii, Rie

× Ishii, Rie

WEKO 108255

en Ishii, Rie

Search repository
Shitara, Hiroshi

× Shitara, Hiroshi

WEKO 108256

en Shitara, Hiroshi

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Kitajiri, Shin-ichiro

× Kitajiri, Shin-ichiro

WEKO 108257

en Kitajiri, Shin-ichiro

Search repository
Nakagata, Naomi

× Nakagata, Naomi

WEKO 108258

en Nakagata, Naomi

Search repository
Takebayashi, Hirohide

× Takebayashi, Hirohide

WEKO 108259

en Takebayashi, Hirohide

Search repository
Kikkawa, Yoshiaki

× Kikkawa, Yoshiaki

WEKO 108260

en Kikkawa, Yoshiaki

Search repository
信州大学研究者総覧へのリンク
氏名 Kitajiri, Shin-ichiro
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.jUTCupyC.html
出版者
出版者 PUBLIC LIBRARY SCIENCE
引用
内容記述タイプ Other
内容記述 PLOS ONE.12(8):e0183477(2017)
書誌情報 PLOS ONE

巻 12, 号 8, p. e0183477, 発行日 2017-08-23
抄録
内容記述タイプ Abstract
内容記述 An unconventional myosin encoded by the myosin VI gene (MYO6) contributes to hearing loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital hearing loss, DFNB37. Kumamoto shaker/waltzer (ksv) mice harbor spontaneous mutations, and homozygous mutants exhibit congenital defects in balance and hearing caused by fusion of the stereocilia. We identified a Myo6(c.1381G>A) mutation that was found to be a p.E461K mutation leading to alternative splicing errors in Myo6 mRNA in ksv mutants. An analysis of the mRNA and protein expression in animals harboring this mutation suggested that most of the abnormal alternatively spliced isoforms of MYO6 are degraded in ksv mice. In the hair cells of ksv/ksv homozygotes, the MYO6 protein levels were significantly decreased in the cytoplasm, including in the cuticular plates. MYO6 and stereociliary taper-specific proteins were mislocalized along the entire length of the stereocilia of ksv/ksv mice, thus suggesting that MYO6 attached to taper-specific proteins at the stereociliary base. Histological analysis of the cochlear hair cells showed that the stereociliary fusion in the ksv/ksv mutants, developed through fusion between stereociliary bundles, raised cuticular plate membranes in the cochlear hair cells and resulted in incorporation of the bundles into the sheaths of the cuticular plates. Interestingly, the expression of the stereociliary rootlet-specific TRIO and F-actin binding protein (TRIOBP) was altered in ksv/ksv mice. The abnormal expression of TRIOBP suggested that the rootlets in the hair cells of ksv/ksv mice had excessive growth. Hence, these data indicated that decreased MYO6 levels in ksv/ksv mutants disrupt actin networks in the apical region of hair cells, thereby maintaining the normal structure of the cuticular plates and rootlets, and additionally provided a cellular basis for stereociliary fusion in Myo6 mutants.
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 EISSN
収録物識別子 1932-6203
PubMed
関連識別子
識別子タイプ PMID
関連識別子 https://www.ncbi.nlm.nih.gov/pubmed/28832620
関連名称
関連名称 28832620
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0183477
関連名称
関連名称 10.1371/journal.pone.0183477
権利
権利情報 © 2017 Seki et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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=000408355800060
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