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Publication : The murine DNA-PKcs gene consists of 86 exons dispersed in more than 250 kb.

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.
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