IL2RG

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Cytokine receptor common subunit gamma precursor (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD132 antigen)

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Generation of a Nonhuman Primate Model of Severe Combined Immunodeficiency Using Highly Efficient Genome Editing.

Recent advances in genome editing have facilitated the generation of nonhuman primate (NHP) models, with potential to unmask the complex biology of human disease not revealed by rodent models. However, their broader use is hindered by the challenges associated with generation of adult NHP models as well as the cost of their production. Here, we describe the generation of a marmoset model of severe combined immunodeficiency (SCID). This study optimized zinc-finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) to target interleukin-2 receptor subunit gamma (IL2RG) in pronuclear stage marmoset embryos. Nine of 21 neonates exhibited mutations in the IL2RG gene, concomitant with immunodeficiency, and three neonates have currently survived from 240 days to 1.8 years. Our approach demonstrates highly efficient production of founder NHP with SCID phenotypes, with promises of multiple pre-clinical and translational applications.

MeSH Terms

  • Aging
  • Animals
  • Animals, Newborn
  • Blastomeres
  • Breeding
  • Callithrix
  • Disease Models, Animal
  • Embryo, Mammalian
  • Fibroblasts
  • Founder Effect
  • Gene Editing
  • Gene Knockout Techniques
  • Genome
  • Humans
  • Interleukin Receptor Common gamma Subunit
  • Male
  • Mosaicism
  • Phenotype
  • Reproducibility of Results
  • Severe Combined Immunodeficiency
  • Spermatozoa
  • Transcription Activator-Like Effector Nucleases
  • Zinc Fingers