The DOI matches its Crossref record; 56 of the 56 references it cites were found in a registry or an index.
A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining
Open accessAbstract
Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (L3062R). The causative mutation did not affect the kinase activity or DNA end-binding capacity of DNA-PKcs itself; rather, the presence of long P-nucleotide stretches in the immunoglobulin coding joints indicated that it caused insufficient Artemis activation, something that is dependent on Artemis interaction with autophosphorylated DNA-PKcs. Moreover, overall end-joining activity was hampered, suggesting that Artemis-independent DNA-PKcs functions were also inhibited. This study demonstrates that the presence of DNA-PKcs kinase activity is not sufficient to rule out a defect in this gene during diagnosis and treatment of RS-SCID patients. Further, the data suggest that residual DNA-PKcs activity is indispensable in humans.
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Cited by
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Metadata
- Authors
- van der Burg, M., IJspeert, H., Verkaik, N. S., Turul, T., Wiegant, W. W., Morotomi-Yano, K., Mari, P.-O., Tezcan, I., Chen, D. J., Zdzienicka, M. Z., van Dongen, J. J. M., & van Gent, D. C.
- Venue
- Journal of Clinical Investigation
- Published
- 2008-12-15
- Volume
- 119
- Issue
- 1
- Pages
- 91-8
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1979699797
- Cited by
- 289
- References
- 56
- FWCI
- 8.07
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining. https://app.cochat.ai/papers/10.1172/jci37141
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- van der Burg, M., IJspeert, H., Verkaik, N. S., Turul, T., Wiegant, W. W., Morotomi-Yano, K., Mari, P.-O., Tezcan, I., Chen, D. J., Zdzienicka, M. Z., van Dongen, J. J. M., & van Gent, D. C. (2008). A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining. Journal of Clinical Investigation. https://doi.org/10.1172/jci37141
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