DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect - PubMed (original) (raw)

. 1995 Feb 24;267(5201):1178-83.

doi: 10.1126/science.7855601.

Affiliations

• PMID: 7855601
• DOI: 10.1126/science.7855601

DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect

C U Kirchgessner et al. Science. 1995.

Abstract

Severe combined immunodeficient (SCID) mice are deficient in a recombination process utilized in both DNA double-strand break repair and in V(D)J recombination. The phenotype of these mice involves both cellular hypersensitivity to ionizing radiation and a lack of B and T cell immunity. The catalytic subunit of DNA-dependent protein kinase, p350, was identified as a strong candidate for the murine gene SCID. Both p350 and a gene complementing the SCID defect colocalize to human chromosome 8q11. Chromosomal fragments expressing p350 complement the SCID phenotype, and p350 protein levels are greatly reduced in cells derived from SCID mice compared to cells from wild-type mice.

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