ArticleProceedings of the National Academy of Sciences of the United States of America1997
Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
62 citing papers in PubMed, 196 citations in OpenAlex.
- DNA-PKcs controls the cytotoxic T cell response to cancer and transplant allograft through regulating LAT-dependent signaling.Cell reports · 2026Article
- DNA-PKcs regulates myogenesis in an Akt-dependent manner independent of induced DNA damage.Cell death and differentiation · 2023Article
- Chemical inhibition of DNA-PKcs impairs the activation and cytotoxicity of CD4Immunology and cell biology · 2023Article
- Mouse Models for HTLV-1 Infection and Adult T Cell Leukemia.International journal of molecular sciences · 2023Review
- Controlling genetic heterogeneity in gene-edited hematopoietic stem cells by single-cell expansion.Cell stem cell · 2023Article
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- Role of Paralogue of XRCC4 and XLF in DNA Damage Repair and Cancer Development.Frontiers in immunology · 2022Review
- Review
- Four-pronged negative feedback of DSB machinery in meiotic DNA-break control in mice.Nucleic acids research · 2021Article
- Diminished or inversed dose-rate effect on clonogenic ability in Ku-deficient rodent cells.Journal of radiation research · 2021Article
- Humanized mouse models of genetic immune disorders and hematological malignancies.Biochemical pharmacology · 2020Review
- Wortmannin, a specific inhibitor of phosphatidylinositol-3-kinase, induces accumulation of DNA double-strand breaks.Journal of radiation research · 2020Article
- DNA-dependent protein kinase in telomere maintenance and protection.Cellular & molecular biology letters · 2020Review
- Effects of theGenes and environment : the official journal of the Japanese Environmental Mutagen Society · 2020Article
- Morphologic and Immunohistochemical Characterization of Spontaneous Lymphoma/Leukemia in NSG Mice.Veterinary pathology · 2020Article
- "An End to a Means": How DNA-End Structure Shapes the Double-Strand Break Repair Process.Frontiers in molecular biosciences · 2019Review
- ATR is a multifunctional regulator of male mouse meiosis.Nature communications · 2018Article
- The role of DNA-PK in aging and energy metabolism.The FEBS journal · 2018Review
- Human liver chimeric mouse model based on diphtheria toxin-induced liver injury.World journal of gastroenterology · 2017Article
- Balancing self-renewal against genome preservation in stem cells: How do they manage to have the cake and eat it too?Cellular and molecular life sciences : CMLS · 2016Review
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The severe combined immune deficiency (SCID) mouse was reported as an animal model for human immune deficiency. Through the course of several studies, the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene came to be considered a candidate for the SCID-responsible gene. We isolated an ORF of the murine DNA-PKcs gene from SCID mice and their parent strain C.B-17 mice and determined the DNA sequences. The ORF of the murine DNA-PKcs gene contained 4128-aa residues and had 78.9% homology with the human DNA-PKcs gene. A particularly important finding is that a T to A transversion results in the substitution of termination codon in SCID mice for the Tyr-4046 in C.B-17 mice. No other mutation was detected in the ORF of the gene. The generality of this transversion was confirmed using four individual SCID and wild-type mice. The substitution took place in the phosphatidylinositol 3-kinase domain, and the mutated gene encodes the truncated products missing 83 residues of wild-type DNA-PKcs products. Furthermore, the quantity of DNA-PKcs transcript in wild-type and SCID cells was almost equal. These observations indicate that the DNA-PKcs gene is the SCID-responsible gene itself and that the detected mutation leads to the SCID aberration.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.