@article{oai:repo.qst.go.jp:00044365,
 author = {Araki, Ryoko and Fujimori, Akira and Hamatani, Kiyohiro and Mita, Kazuei and Saito, Toshiyuki and Mori, Masahiko and Fukumura, Ryuutarou and Morimyo, Mitsuoki and Muto, Masahiro and Ito, Masahiro and Tatsumi, Kouichi and Abe, Masumi and 荒木 良子 and 藤森 亮 and 三田 和英 and 齋藤 俊行 and 森 雅彦 and 福村 龍太郎 and 森明 充興 and 武藤 正弘 and 巽 紘一 and 安倍 真澄},
 journal = {Proceedings of the National Academy of Sciences of the United States of America},
 month = {Mar},
 note = {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.},
 pages = {2438--2443},
 title = {Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice.},
 volume = {94},
 year = {1997}
}