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Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II
http://hdl.handle.net/10091/17340
http://hdl.handle.net/10091/1734023fa8e43-b137-425e-9c6a-070b5986ddd5
名前 / ファイル | ライセンス | アクション |
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Nonsense-mediated_mRNA_decay_demonstrated_two_hypofibrinogenemias.pdf (620.4 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2014-01-21 | |||||
タイトル | ||||||
タイトル | Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II | |||||
言語 | en | |||||
言語 | ||||||
言語 | eng | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1016/j.thromres.2013.08.010 | |||||
関連名称 | 10.1016/j.thromres.2013.08.010 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | hypofibrinogenemia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | nonsense-mediated mRNA decay (NMD) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | quantitative RT-PCR | |||||
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 |
Soya, Keisuke
× Soya, Keisuke× Takezawa, Yuka× Okumura, Nobuo× Terasawa, Fumiko |
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信州大学研究者総覧へのリンク | ||||||
表示名 | Okumura, Nobuo | |||||
URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html | |||||
出版者 | ||||||
出版者 | ELSEVIER | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | THROMBOSIS RESEARCH. 132(4):465-470 (2013) | |||||
書誌情報 |
THROMBOSIS RESEARCH 巻 132, 号 4, p. 465-470, 発行日 2013-10 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | We report two novel hypofibrinogenemias, Shizuoka III and Kanazawa II, which are caused by heterozygous mutations in FGG. Shizuoka III showed c.147delT and 147_149insACA in FGG exon 3 and a subsequent frameshift mutation, resulting in mature protein γ23X (native protein: γ49X), and Kanazawa II showed c.1205G>A in FGG exon 9, resulting in γ376X (native protein: γ402X). To determine whether the truncated γ-chains, γ23X and γ376X, were synthesized and participated in the assembly of fibrinogen, mutant-type cDNA vectors were transfected into Chinese hamster ovary (CHO) cells. Significant levels of mutant fibrinogen were not detected by ELISA in the culture media and cell lysates. Immunoblot analysis of cell lysates revealed that the mutant γ-chain of γ376X was observed but intact fibrinogen was not. On the other hand, mutant γ-chain was not observed in γ23X-expressing cells. To demonstrate the involvement of the mechanisms of nonsense-mediated mRNA decay (NMD), we cloned wild- and mutant-type mini-genes containing γ23 or γ376 codon and transfected these into CHO cell lines in the absence or presence of cycloheximide as an NMD inhibitor. mRNA levels were determined using real-time quantitative RT-PCR in CHO cells. In the absence of cycloheximide, levels of mRNAs transcribed from the mutant gene were lower than from the wild-type gene whereas, in the presence of cycloheximide, levels of mRNAs transcribed from the mutant gene increased dose-dependently. Finally, these results demonstrated that mRNAs containing γ23X or γ376X are degraded by the NMD system and translation of the truncated γ-chain polypeptide decrease in patients' hepatocytes, resulting in hypofibrinogenemias. | |||||
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 | 0049-3848 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00863148 | |||||
PubMed | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://pubmed.ncbi.nlm.nih.gov/24011387 | |||||
関連名称 | 24011387 | |||||
権利 | ||||||
権利情報 | Copyright© 2013 Elsevier Ltd. | |||||
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=000325431800011 |