たんぱく質不安定性を呈する新規TSH受容体変異V711fsの機能解析

Material type: 文書・図像類

Author: 鳴海, 覚志

Publisher: -

Publication date: 2014

Material Format: Digital

Capacity, size, etc.: -

NDC: -

View All

Notes on use

Note (General)：: type:text先天性甲状腺機能低下症患者に認めたTSH受容体変異V711FfsX18を解析した。本変異体はプロテアソーム依存的なタンパク質分解を受けるが, その説明として(1) C末端側正常54残基の喪失(2) C末端への17残基異常配列の付加の2つの説明を考えた。54残基欠失のみ生じる人工変異...

Related materials as well as pre- and post-revision versions

科研費研究者番号 : 40365317

Search by Bookstore

Holdings of Libraries in Japan

This page shows libraries in Japan other than the National Diet Library that hold the material.

List of Cooperating Institutions and Databases

Please contact your local library for information on how to use materials or whether it is possible to request materials from the holding libraries.

other

Keio Associated Repository of Academic resources
Digital
You can check the holdings of institutions and databases with which Institutional Repositories DataBase(IRDB)(Institutional Repository) is linked at the site of Institutional Repositories DataBase(IRDB)(Institutional Repository).
Keio Associated Repository of Academic resources

Search by Bookstore

Bibliographic Record

You can check the details of this material, its authority (keywords that refer to materials on the same subject, author's name, etc.), etc.

Digital

Material Type: 文書・図像類
Title: たんぱく質不安定性を呈する新規TSH受容体変異V711fsの機能解析
Author/Editor: 鳴海, 覚志
Author Heading: 鳴海, 覚志
Publication Date: 2014
Publication Date (W3CDTF): 2014
Alternative Title: タンパクシツフアンテイセイオテイスルシンキ TSH ジュヨウタイヘンイ V711fs ノキノウカイセキ
Tanpakushitsu fuanteisei o teisuru shinki TSH juyotai heni V711fs no kino kaiseki
Functional characterization of a novel TSH receptor mutation (V711fs) with protein instability
Periodical title: 科学研究費補助金研究成果報告書
Text Language Code: jpn
eng
Subject Heading: 先天性甲状腺機能低下症,TSH受容体,変異,たんぱく質不安定性,プロテアソーム
Target Audience: 一般
Note (General): type:text
先天性甲状腺機能低下症患者に認めたTSH受容体変異V711FfsX18を解析した。本変異体はプロテアソーム依存的なタンパク質分解を受けるが, その説明として(1) C末端側正常54残基の喪失(2) C末端への17残基異常配列の付加の2つの説明を考えた。54残基欠失のみ生じる人工変異体V711XのcAMP産生能は保たれており(1)は否定的であった。また, 緑色蛍光たんぱく質とルシフェラーゼたんぱく質にそれぞれ異常配列を付加したところ, いずれも著明な活性低下を観察した。以上は(2)を支持してあり, 変異の影響で付加された17残基の異常配列がV711Ffsx18のたんぱく質不安定性の原因と結論した。 We analyzed a TSH receptor mutation V711FfsX18, which was observed in a patient with congenital hypothyroidism. This mutation was subject to proteasome-dependent protein degradation. Two models were considered as a explanation for the protein instability of the mutation: Model 1, Loss of intact 54 aa C-terminal sequence; Model 2, Acquisition of frame-shifted 17 aa sequence. The result of cAMP-generating activity of the V711X mutation, which was comparable to wildtype, excluded the Model 1. When the 17-aa sequence was fused to the green fluorescent protein or the luciferase protein, remarkable reduction in their activities were shown. Based on these observations, we concluded that acquisition of 17-aa frame-shifted sequence causes the protein instability of the V711FfsX TSH receotor mutation.
研究種目 : 若手研究(B) 研究期間 : 2012～2014 課題番号 : 24791087 研究分野 : 小児内分泌学
Access Restrictions: 限定公開
Related Material: 科研費研究者番号 : 40365317
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 慶應義塾大学 : 慶應義塾大学学術情報リポジトリ