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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 C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia

http://hdl.handle.net/10091/10294
5cc611f4-6585-467b-9480-def7efaa22c4
名前 / ファイル ライセンス アクション
C-terminal_amino_acid_substitution.pdf C-terminal_amino_acid_substitution.pdf (838.3 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2010-08-19
タイトル
言語 en
タイトル A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia
言語
言語 eng
キーワード
主題Scheme Other
主題 hypofibrinogenemia
キーワード
主題Scheme Other
主題 nucleotide deletion
キーワード
主題Scheme Other
主題 frameshift mutation
キーワード
主題Scheme Other
主題 assembly
キーワード
主題Scheme Other
主題 secretion
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Fujihara, Noriko

× Fujihara, Noriko

WEKO 8006

en Fujihara, Noriko

Search repository
Haneishi, Ayumi

× Haneishi, Ayumi

WEKO 8007

en Haneishi, Ayumi

Search repository
Yamauchi, Kazuyoshi

× Yamauchi, Kazuyoshi

WEKO 8008

en Yamauchi, Kazuyoshi

Search repository
Terasawa, Fumiko

× Terasawa, Fumiko

WEKO 8009

en Terasawa, Fumiko

Search repository
Ito, Toshiro

× Ito, Toshiro

WEKO 8010

en Ito, Toshiro

Search repository
Ishida, Fumihiro

× Ishida, Fumihiro

WEKO 8011

en Ishida, Fumihiro

Search repository
Okumura, Nobuo

× Okumura, Nobuo

WEKO 8012

en Okumura, Nobuo

Search repository
信州大学研究者総覧へのリンク
氏名 Ishida, Fumihiro
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.ueTCHhkh.html
信州大学研究者総覧へのリンク
氏名 Okumura, Nobuo
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html
出版者
出版者 Schattauer
引用
内容記述タイプ Other
内容記述 THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010)
書誌情報 Thrombosis and Haemostasis

巻 104, p. 213-223, 発行日 2010-07
内容記述
内容記述タイプ Other
内容記述 This article is not an exact copy of the original published article in THROMBOSIS AND HAEMOSTASIS. The definitive publisher-authenticated version of THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010) is available online at: https://doi.org/10.1160/TH09-08-0540 .
抄録
内容記述タイプ Abstract
内容記述 We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the γ-chain. This frameshift results in 25 amino acid substitutions, late termination of translation with elongation by 15 amino acids, and the introduction of a canonical glycosylation site. Western blot analysis of the patient’s plasma fibrinogen visualized with anti-γ-chain antibody revealed the presence of two extra bands. To identify the extra bands and determine which of the above-mentioned alterations caused the assembly and/or secretion defects in the patient, 11 variant vectors that introduced mutations into the cDNA of the γ-chain orγ’-chain were transfected into CHO cells. In vitro expression of transfectants containingγΔ7651A and γΔ7651A/399T (γΔ7651A with an amino acid substitution of 399Asn by Thr and a variant lacking the canonical glycosylation site) demonstrated a reduction in secretion to approximately 20% of the level seen in the transfectants carrying the normal γ-chain. Furthermore, results from other transfectants demonstrated that 8 aberrant residues between 391 and 398 of the M-VII variant, rather than the 15 amino acid extension or the additional glycosylation, are responsible for the reduced levels of assembly and secretion of M-VII variant fibrinogen. Finally, the results of this study and our previous reports demonstrate that the fibrinogen γ-chain C-terminal tail (388-411) is not necessary for protein assembly or secretion, but the aberrant amino acid sequence observed in the M-VII variant (especially 391-398) disturbs these functions.
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 0340-6245
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AA00863137
PubMed
関連識別子
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/20589319
関連名称
関連名称 20589319
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1160/TH09-08-0540
関連名称
関連名称 10.1160/TH09-08-0540
権利
権利情報 Copyright (c) 2010 Schattauer Publishers
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
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=000281067800006
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