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Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice.
https://repo.qst.go.jp/records/44365
https://repo.qst.go.jp/records/4436574ca4cc6-5e51-450d-9032-74182c04c6b5
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2006-06-28 | |||||
| タイトル | ||||||
| タイトル | Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. | |||||
| 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 |
Araki, Ryoko
× Araki, Ryoko× Fujimori, Akira× Hamatani, Kiyohiro× Mita, Kazuei× Saito, Toshiyuki× Mori, Masahiko× Fukumura, Ryuutarou× Morimyo, Mitsuoki× Muto, Masahiro× Ito, Masahiro× Tatsumi, Kouichi× Abe, Masumi× 荒木 良子× 藤森 亮× 三田 和英× 齋藤 俊行× 森 雅彦× 福村 龍太郎× 森明 充興× 武藤 正弘× 巽 紘一× 安倍 真澄 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | The severe combined immune deficiency (SCID) mouse was reported as an animal model for human immune deficiency. Through the course of several studies, the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene came to be considered a candidate for the SCID-responsible gene. We isolated an ORF of the murine DNA-PKcs gene from SCID mice and their parent strain C.B-17 mice and determined the DNA sequences. The ORF of the murine DNA-PKcs gene contained 4128-aa residues and had 78.9% homology with the human DNA-PKcs gene. A particularly important finding is that a T to A transversion results in the substitution of termination codon in SCID mice for the Tyr-4046 in C.B-17 mice. No other mutation was detected in the ORF of the gene. The generality of this transversion was confirmed using four individual SCID and wild-type mice. The substitution took place in the phosphatidylinositol 3-kinase domain, and the mutated gene encodes the truncated products missing 83 residues of wild-type DNA-PKcs products. Furthermore, the quantity of DNA-PKcs transcript in wild-type and SCID cells was almost equal. These observations indicate that the DNA-PKcs gene is the SCID-responsible gene itself and that the detected mutation leads to the SCID aberration. | |||||
| 書誌情報 |
Proceedings of the National Academy of Sciences of the United States of America 巻 94, p. 2438-2443, 発行日 1997-03 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0027-8424 | |||||
