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A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia
http://hdl.handle.net/2241/106403
http://hdl.handle.net/2241/106403700bfdee-40aa-4ddb-a92a-c47f17a4f734
名前 / ファイル | ライセンス | アクション |
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TAH_104-2.pdf (1.6 MB)
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Item type | Journal Article(1) | |||||
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公開日 | 2010-09-14 | |||||
タイトル | ||||||
タイトル | A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia | |||||
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 |
Fujihara, Noriko
× Fujihara, Noriko× Haneishi, Ayumi× Yamauchi, Kazuyoshi× Terasawa, Fumiko× Ito, Toshiro× Ishida, Fumihiro× Okumura, Nobuo |
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著者別名 |
山内, 一由
× 山内, 一由 |
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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 visualised 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 or γ’-chain were transfected into Chinese hamster ovary cells. In vitro expression of transfectants containing γΔ7651A 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 eight 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. | |||||
書誌情報 |
Thrombosis and haemostasis 巻 104, 号 2, p. 213-223, 発行日 2010-08 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
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番号 | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 20589319 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1160/TH09-08-0540 | |||||
権利 | ||||||
権利情報 | © Schattauer 2010 | |||||
著者版フラグ | ||||||
値 | author | |||||
出版者 | ||||||
出版者 | Schattauer | |||||
URI | ||||||
識別子 | http://hdl.handle.net/2241/106403 | |||||
識別子タイプ | HDL |