ArticleJournal of immunology (Baltimore, Md. : 1950)2015
Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs.
Article in Journal of immunology (Baltimore, Md. : 1950), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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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
31 citing papers in PubMed, 50 citations in OpenAlex.
- Evolutionary insights and structural characterization guide the development of RAG1/RAG2-deficient swine models for immunological research.Frontiers in immunology · 2026Article
- Midgestational injection of highly expanded human CD34+ cells increases lineages of human immune cells and supports thymic development inFrontiers in immunology · 2026Article
- Compared to other NHEJ factors, DNA-PK protein and RNA levels are markedly increased in all higher primates, but not in prosimians or other mammals.DNA repair · 2024Article
- EFFECT OF GENOTYPE AND AGE ON A DEFINED MICROBIOTA IN GNOTOBIOTIC SCID PIGLETS.bioRxiv : the preprint server for biology · 2024Article
- Transplantation of human cells into Interleukin-2 receptor gamma gene knockout pigs under several conditions.Regenerative therapy · 2022Article
- Rare and population-specific functional variation across pig lines.Genetics, selection, evolution : GSE · 2022Article
- In Vivo Modeling of Human Breast Cancer Using Cell Line and Patient-Derived Xenografts.Journal of mammary gland biology and neoplasia · 2022Review
- Swine models for translational oncological research: an evolving landscape and regulatory considerations.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
- Outer Retinal Cell Replacement: Putting the Pieces Together.Translational vision science & technology · 2021Review
- Effect of ARTEMIS (DCLRE1C) deficiency and microinjection timing on editing efficiency during somatic cell nuclear transfer and in vitro fertilization using the CRISPR/Cas9 system.Theriogenology · 2021Article
- Comparison of Genetically Engineered Immunodeficient Animal Models for Nonclinical Testing of Stem Cell Therapies.Pharmaceutics · 2021Review
- CD3εFrontiers in immunology · 2020Article
- Novel Engraftment and T Cell Differentiation of Human Hematopoietic Cells inFrontiers in immunology · 2020Article
- Infectivity of GII.4 human norovirus does not differ between T-B-NKVirus research · 2019Article
- Survival of human cadaver skin on severe combined immune deficiency pigs: Proof of concept.Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society · 2019Article
- Biofabrication of Autologous Human Hepatocytes for Transplantation: How Do We Get There?Gene expression · 2019Review
- A Comprehensive Protocol for Laparotomy in Swine to Facilitate Ultrasound-Guided Injection into the Fetal Intraperitoneal Space.Comparative medicine · 2019Article
- Porcine signal regulatory protein alpha binds to human CD47 to inhibit phagocytosis: Implications for human hematopoietic stem cell transplantation into severe combined immunodeficient pigs.Xenotransplantation · 2019Article
- Cellular Therapies for the Treatment of Hematological Malignancies; Swine Are an Ideal Preclinical Model.Frontiers in oncology · 2019Review
- Human Ovarian Cancer Tumor Formation in Severe Combined Immunodeficient (SCID) Pigs.Frontiers in oncology · 2019Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in >30 genes are known to result in impairment of the adaptive immune system, causing a group of disorders collectively known as SCID. SCID disorders are split into groups based on their presence and/or functionality of B, T, and NK cells. Piglets from a line of Yorkshire pigs at Iowa State University were shown to be affected by T(-)B(-)NK(+) SCID, representing, to our knowledge, the first example of naturally occurring SCID in pigs. In this study, we present evidence for two spontaneous mutations as the molecular basis for this SCID phenotype. Flow cytometry analysis of thymocytes showed an increased frequency of immature T cells in SCID pigs. Fibroblasts from these pigs were more sensitive to ionizing radiation than non-SCID piglets, eliminating the RAG1 and RAG2 genes. Genetic and molecular analyses showed that two mutations were present in the Artemis gene, which in the homozygous or compound heterozygous state cause the immunodeficient phenotype. Rescue of SCID fibroblast radiosensitivity by human Artemis protein demonstrated that the identified Artemis mutations are the direct cause of this cellular phenotype. The work presented in the present study reveals two mutations in the Artemis gene that cause T(-)B(-)NK(+) SCID in pigs. The SCID pig can be an important biomedical model, but these mutations would be undesirable in commercial pig populations. The identified mutations and associated genetic tests can be used to address both of these issues.
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Registered trials
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.