OMIA 000899-9823 : Severe combined immunodeficiency disease, X-linked in Sus scrofa

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300400 , 308380 , 312863

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: no

Species-specific description: This disorder in pigs has been produced by targeted disruption of the IL2RG gene (mutations in which cause X-linked SCID in dogs and humans) in somatic cells, followed by cloning by nuclear transfer to produce pigs with one or two copies of the X-linked disrupted gene. Thus, the reports in this entry concern a genetically-modified organism (GMO)

Molecular basis: Suzuki et al. (2012) used homologous recombination to create a disrupted allele of the IL2RG gene in somatic cells, followed by serial nuclear transfer, to establish a line of pigs segregating for the X-linked disrupted allele and hence for X-linked SCID.

Watanabe et al. (2013) produced a similar line of pigs by using a similar strategy, except that the gene disruption was created via zinc finger nuclease (ZFN) technology.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IL2RG interleukin 2 receptor, gamma Sus scrofa X NC_010461.5 (57151242..57143568) IL2RG Homologene, Ensembl, NCBI gene

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2013 Watanabe, M., Nakano, K., Matsunari, H., Matsuda, T., Maehara, M., Kanai, T., Kobayashi, M., Matsumura, Y., Sakai, R., Kuramoto, M., Hayashida, G., Asano, Y., Takayanagi, S., Arai, Y., Umeyama, K., Nagaya, M., Hanazono, Y., Nagashima, H. :
Generation of interleukin-2 receptor gamma gene knockout pigs from somatic cells genetically modified by zinc finger nuclease-encoding mRNA. PLoS One 8:e76478, 2013. Pubmed reference: 24130776. DOI: 10.1371/journal.pone.0076478.
2012 Suzuki, S., Iwamoto, M., Saito, Y., Fuchimoto, D., Sembon, S., Suzuki, M., Mikawa, S., Hashimoto, M., Aoki, Y., Najima, Y., Takagi, S., Suzuki, N., Suzuki, E., Kubo, M., Mimuro, J., Kashiwakura, Y., Madoiwa, S., Sakata, Y., Perry, A.C., Ishikawa, F., Onishi, A. :
Il2rg gene-targeted severe combined immunodeficiency pigs. Cell Stem Cell 10:753-8, 2012. Pubmed reference: 22704516. DOI: 10.1016/j.stem.2012.04.021.

Edit History


  • Created by Frank Nicholas on 14 May 2014
  • Changed by Frank Nicholas on 14 May 2014
  • Changed by Frank Nicholas on 19 Apr 2018