Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs

The Journal of Immunology : Official Journal of the American Association of Immunologists
Emily H WaideC K Tuggle

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(-)N...Continue Reading

References

Oct 4, 1996·Science·K SchwarzC R Bartram
Aug 5, 2000·The Journal of Immunology : Official Journal of the American Association of Immunologists·M SinkoraJ E Butler
Mar 20, 2001·American Journal of Human Genetics·M StephensP Donnelly
May 2, 2002·Cell·Craig H BassingFrederick W Alt
Jun 11, 2002·The Journal of Immunology : Official Journal of the American Association of Immunologists·Lanying LiMorton J Cowan
Aug 15, 2002·Nucleic Acids Research·Isabelle CallebautJean-Pierre de Villartay
Jan 28, 2004·The Journal of Experimental Medicine·Catherine PoinsignonJean-Pierre de Villartay
Feb 24, 2004·The Journal of Immunology : Official Journal of the American Association of Immunologists·Javier Mestas, Christopher C W Hughes
Jan 5, 2007·The Journal of Immunology : Official Journal of the American Association of Immunologists·Marek SinkoraWolfgang Holtmeier
Nov 14, 2007·Journal of Animal Science·W CaiJ C M Dekkers
Jul 16, 2008·Advances in Cancer Research·Barak Blum, Nissim Benvenisty
Sep 3, 2008·Developmental and Comparative Immunology·Marek Sinkora, John E Butler
Jan 13, 2009·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Zheng XiaoMorton J Cowan
Sep 8, 2009·Advances in Experimental Medicine and Biology·Jean-Pierre de Villartay
Nov 26, 2009·Transgenic Research·Jason W RossRandall S Prather
Jan 1, 2010·The Journal of Allergy and Clinical Immunology·Luigi D Notarangelo
Feb 2, 2010·Immunology and Allergy Clinics of North America·Christopher C Dvorak, Morton J Cowan
Nov 17, 2010·Italian Journal of Pediatrics·Fausto Cossu
Dec 15, 2010·Human Molecular Genetics·Cheryl JacobsJoAnn M Sekiguchi
Dec 14, 2011·Trends in Microbiology·François MeurensVolker Gerdts
Jan 4, 2012·Journal of Cellular and Molecular Medicine·Jordan R PlewsJoseph C Wu
Feb 14, 2012·Cellular & Molecular Immunology·Michael A Brehm, Leonard D Shultz
Apr 18, 2012·Immunology Letters·Sylvie Garcia, Antonio A Freitas
Apr 25, 2012·Journal of Assisted Reproduction and Genetics·Reut Tomashov-MatarMordechai Shohat
Jun 19, 2012·Cell Stem Cell·Shunichi SuzukiAkira Onishi
Sep 4, 2012·Nature Methods·Michael T CertoAndrew M Scharenberg
Sep 12, 2012·Nature Biotechnology·Justine J CunninghamLeendert H J Looijenga
Oct 13, 2012·Nature Reviews. Immunology·Leonard D ShultzDale L Greiner
Feb 13, 2013·Proceedings of the National Academy of Sciences of the United States of America·Junhee SeokUNKNOWN Inflammation and Host Response to Injury, Large Scale Collaborative Research Program
May 7, 2014·Proceedings of the National Academy of Sciences of the United States of America·Kiho LeeJin-Hoi Kim
Jun 29, 2014·The Journal of Immunology : Official Journal of the American Association of Immunologists·Jiao HuangLiangxue Lai
Jan 1, 2013·Annual Review of Animal Biosciences·Randall S PratherEric Walters

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Citations

Sep 21, 2019·Lab Animal·Ellen P Neff
Feb 28, 2016·The Journal of Immunology : Official Journal of the American Association of Immunologists·Jessica A NealKatheryn Meek
Jun 26, 2017·BMC Genomics·Haibo LiuChristopher K Tuggle
Dec 13, 2018·ILAR Journal·Jason S VillanoPatrick A Lester
Jul 12, 2019·Frontiers in Oncology·Raimon Duran-StruuckAbraham J Matar
Feb 7, 2019·Frontiers in Oncology·Adeline N BoettcherErik M Shapiro
Jun 9, 2019·Xenotransplantation·Nora Hosny, Christopher Burlak
Mar 8, 2019·Wound Repair and Regeneration : Official Publication of the Wound Healing Society [and] the European Tissue Repair Society·Adam J SingerLior Rosenberg
Apr 17, 2020·Frontiers in Immunology·Adeline N BoettcherChristopher K Tuggle
Mar 3, 2020·Frontiers in Immunology·Adeline N BoettcherChristopher K Tuggle
Sep 4, 2021·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Adeline N BoettcherChristopher K Tuggle
Nov 2, 2021·Translational Vision Science & Technology·Allison L Ludwig, David M Gamm
Aug 26, 2018·Gene Expression·Nandini AgarwalAlejandro Soto-Gutierrez

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