| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2017-07-05 |
| タイトル |
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タイトル |
Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A |
| 言語 |
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言語 |
eng |
| DOI |
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関連識別子 |
https://doi.org/10.1016/j.thromres.2016.11.002 |
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関連名称 |
10.1016/j.thromres.2016.11.002 |
| キーワード |
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主題 |
Frameshift mutation, Hypodysfibrinogenemia, Splicing abnormality, gamma A-chain, gamma '-chain |
| 資源タイプ |
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資源 |
http://purl.org/coar/resource_type/c_6501 |
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タイプ |
journal article |
| 著者 |
Mukai, Saki
Nagata, Kazuhiro
Ikeda, Minami
Arai, Shinpei
Sugano, Mitsutoshi
Honda, Takayuki
Okumura, Nobuo
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| 信州大学研究者総覧へのリンク |
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氏名 |
Honda, Takayuki |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.WeDUHFkh.html |
| 信州大学研究者総覧へのリンク |
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氏名 |
Okumura, Nobuo |
|
URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html |
| 出版者 |
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出版者 |
PERGAMON-ELSEVIER SCIENCE LTD |
| 引用 |
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内容記述 |
THROMBOSIS RESEARCH. 148:111-117 (2016) |
| 書誌情報 |
THROMBOSIS RESEARCH
巻 148,
p. 111-117,
発行日 2016-12
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| 内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
Epub 2016 Nov 5 |
| 抄録 |
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内容記述 |
Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles. The former was deep in intron 8 of FGG (IVS-8 deletion) and the latter in exon 9 of FGG (Ex-9 deletion), which is translated for the gamma'-chain, but not the.A-chain. AWestern blot analysis of plasma fibrinogen from our patient revealed an aberrant gamma-chain that migrated slightly faster than the normal B beta-chain. Materials andmethods: To clarify the complex genetic mechanismunderlying Tsukuba I's hypodysfibrinogenemia induced by nucleotide deletions in two regions, we generated two minigenes incorporating each deletion region, transfected them into Chinese Hamster Ovary (CHO) cells, and analyzed RT-PCR products. We also established CHO cells producing the recombinant variant fibrinogen,gamma' 409.A (Ex-9 deletion). Results and conclusions: Minigene I incorporating the IVS-8 deletion showed two products: a normal splicing product and the unspliced product. Minigene II incorporating the Ex-9 deletion only produced the unspliced product. The established gamma' 409.A-CHOcells secreted variant fibrinogenmore effectively than normal fibrinogen. Therefore, the aberrant splicing products derived from the IVS-8 deletion cause hypofibrinogenemia most likely due to nonsense-mediated mRNA decay and the partial production of normal.A-and gamma'-chains; moreover, the Ex-9 deletion causes hypodysfibrinogenemia due to the absence of normal.A-and gamma'-chain production (hypofibrinogenemia) and augmented aberrant.'-chain production (dysfibrinogenemia). (C) 2016 Elsevier Ltd. All rights reserved. |
| 資源タイプ（コンテンツの種類） |
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| ISSN |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0049-3848 |
| PubMed |
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識別子タイプ |
PMID |
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関連識別子 |
https://pubmed.ncbi.nlm.nih.gov/27837696 |
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関連名称 |
27837696 |
| 権利 |
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権利情報 |
© 2016, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| 出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| WoS |
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URL |
http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000391287100020 |
Genetic_analyses_of_novel_compound_heterozygous_hypodysfibrinogenemia.pdf (900.6 kB)
