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Growth retardation and skin abnormalities of the Recql4-deficient mouse
https://repo.qst.go.jp/records/43292
https://repo.qst.go.jp/records/432925aec9b3f-5ad4-408d-b44c-6093dd64d014
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2003-12-03 | |||||
| タイトル | ||||||
| タイトル | Growth retardation and skin abnormalities of the Recql4-deficient mouse | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 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 | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Fujimori, Yuko
× Fujimori, Yuko× Araki, Ryoko× Ohhata, Tatsuya× Fukumura, Ryuutarou× Nakamura, Miki× Takahashi, Hirokazu× Noda, Yuko× Kito, Seiji× Abe, Masumi× et.al× 藤森 ゆう子× 荒木 良子× 福村 龍太郎× 中村 美樹× 高橋 宏和× 野田 攸子× 鬼頭 靖司× 安倍 真澄 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Mutations in the Recql4 gene are very likely responsible for a subset of Rothmund-Thomson syndrome (RTS) cases, but until now there has been no animal model to confirm this. Knockout mice in which the Recql4 gene is disrupted at exons 5-8 exhibit embryonic lethality at embryonic day 3.5-6.5. We generated a helicase activity-inhibited mouse by deleting exon 13 of Recql4, which is one of the coding exons of the consensus RecQ-helicase domain. This domain is the primary site of mutations that have been identified in RTS patients. The exon 13-deleted Recql4-deficient mice are viable, but exhibit severe growth retardation and abnormalities in several tissues, and embryonic fibroblasts show a defect in cell proliferation. Abnormalities in the Recql4-deficient mice are similar to those in RTS patients, suggesting that defects in the Recql4 gene may indeed be responsible for RTS. We speculate that the loss of Recql4 helicase activity results in the prematurely aged appearance observed in some RecQ helicase diseases. | |||||
| 書誌情報 |
Human Molecular Genetics 巻 12, 号 18, p. 2293-2299, 発行日 2003 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0964-6906 | |||||
