| http://purl.uniprot.org/citations/9122213 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9122213 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9122213 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.94.6.2438"xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.94.6.2438"xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Itoh M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Itoh M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Mori M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Mori M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Saito T."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Saito T."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Abe M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Abe M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Tatsumi K."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Tatsumi K."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Mita K."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Mita K."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Fujimori A."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Fujimori A."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Morimyo M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Morimyo M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Araki R."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Araki R."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Muto M."xsd:string |
| http://purl.uniprot.org/citations/9122213 | http://purl.uniprot.org/core/author | "Muto M."xsd:string |