First Author | Fujimori A | Year | 1997 |
Journal | Genomics | Volume | 45 |
Issue | 1 | Pages | 194-9 |
PubMed ID | 9339376 | Mgi Jnum | J:43493 |
Mgi Id | MGI:1097797 | Doi | 10.1006/geno.1997.4919 |
Citation | Fujimori A, et al. (1997) The murine DNA-PKcs gene consists of 86 exons dispersed in more than 250 kb. Genomics 45(1):194-9 |
abstractText | The DNA-PKcs gene encodes the 465-kDa catalytic subunit of DNA-dependent protein kinase (DNA-PK), which associates with heterodimeric autoantigens Ku70 and Ku80 and exhibits protein kinase activity depending on DNA double-strand breaks. The gene is also responsible for the aberration in severe combined immune deficiency (SCID) mice, which exhibit a high sensitivity to ionizing radiation and abnormal DNA rearrangement of immunoglobulin and T cell receptor genes. There is further evidence that DNA-PKcs phosphorylates various proteins involved in DNA replication, transcription, repair, and recombination. Nevertheless the structure/function relationship in this huge molecule is virtually unknown. We determined the exons and introns of the murine DNA-PKcs gene by the long-distance polymerase chain reaction method. The murine DNA-PKcs gene consists of 86 exons distributed in a region of more than 250 kb.The average size of the exons is 140 bp. All the splicing sites conform to the GT/AG rule. The SCID mutation site (Tyr4046) has been identified in exon 85. The genomic structure of the DNA-PKcs gene provides clues for the study of various functional domains in this macromolecule. |