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Publication : Cloning and chromosomal mapping of the mouse DNA-dependent protein kinase gene.

First Author  Hamatani K Year  1996
Journal  Immunogenetics Volume  45
Issue  1 Pages  1-5
PubMed ID  8881030 Mgi Jnum  J:37619
Mgi Id  MGI:85008 Doi  10.1007/s002510050159
Citation  Hamatani K, et al. (1996) Cloning and chromosomal mapping of the mouse DNA-dependent protein kinase gene. Immunogenetics 45(1):1-5
abstractText  Severe combined immune deficiency (scid) mice are assumed to have two types of abnormalities: one is high radiosensitivity and the other is abnormal recombination in immunoglobulin and T-cell receptor genes. The human chromosome 8 q1.1 region has an ability to complement the scid aberrations. Moreover, the localization of the subunit DNA-dependent protein kinase [DNA-PKcs] participating in DNA double-strand break repair in the same locus was clarified. In scid mouse cells, the number of DNA-PKcs products and extent of DNA-PK activity remarkably decrease. These observations gave rise to the assumption that DNA-PKcs is the scid factor itself. In order to determine whether the DNA-PKcs gene is the scid gene, we isolated the mouse DNA-PKcs gene and investigated its chromosomal locus by fluorescence in situ hybridization (FISH). Consequently, it became clear that the mouse DNA-PKcs gene existed in the centromeric region of mouse chromosome 16, determined by cross-genetic study, as a scid locus. This finding strongly suggests that mouse DNA-PKcs is the scid gene.
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