OMIA 001990-9823 : Cancer, TP53-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 109800 (trait) , 114480 (trait) , 137215 (trait) , 601626 (trait) , 211980 (trait) , 260350 (trait) , 614470 (trait) , 202300 (trait) , 114500 (trait) , 114550 (trait) , 607107 (trait) , 259500 (trait) , 614740 (trait) , 137800 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Genetically-modified organism; GMO

Molecular basis: Sieren et al. (2014) created pigs transgenic for the R167H variant of TP53, equivalent to the human variant R175H that is "one of the most frequent missense mutations in sporadic [human] tumors". Homozygotes for this variant "developed lymphomas and osteogenic tumors, recapitulating the tumor types observed in mice and humans expressing orthologous TP53 mutant alleles".

Schook et al. (2015) developed a line of pigs transgenic for the same TP53 variant and for another oncogenic variant, namely G12D in the KRAS gene.

Tanihara et al. (2018) "generated TP53-mutant pigs by gene editing via electroporation of the Cas9 protein (GEEP), a process that involves introducing the Cas9 protein and single-guide RNA (sgRNA) targeting exon 3 and intron 4 of TP53 into in vitro-fertilized zygotes. ... Our results indicated that the mutations caused by gene editing successfully induced tumor phenotypes in both TP53 mosaic- and bi-allelic mutant pigs."

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
TP53 tumor protein p53 Sus scrofa 12 NC_010454.4 (52953786..52939643) TP53 Homologene, Ensembl, NCBI gene
KRAS Kirsten rat sarcoma viral oncogene homolog Sus scrofa 5 NC_010447.5 (48508774..48546260) KRAS Homologene, Ensembl, NCBI gene


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.
2021 Elkhadragy, L., Regan, M.R., M Totura, W., Goli, K.D., Patel, S., Garcia, K., Stewart, M., Schook, L.B., Gaba, R.C., Schachtschneider, K.M. :
Generation of genetically tailored porcine liver cancer cells by CRISPR/Cas9 editing. Biotechniques 70:37-48, 2021. Pubmed reference: 33222517. DOI: 10.2144/btn-2020-0119.
Segatto, N.V., Bender, C.B., Seixas, F.K., Schachtschneider, K., Schook, L., Robertson, N., Qazi, A., Carlino, M., Jordan, L., Bolt, C., Collares, T. :
Perspective: Humanized pig models of bladder cancer. Front Mol Biosci 8:681044, 2021. Pubmed reference: 34079821. DOI: 10.3389/fmolb.2021.681044.
Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. :
The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928. DOI: 10.1016/j.jgg.2021.03.015.
2018 Tanihara, F., Hirata, M., Nguyen, N.T., Le, Q.A., Hirano, T., Takemoto, T., Nakai, M., Fuchimoto, D.I., Otoi, T. :
Generation of a TP53-modified porcine cancer model by CRISPR/Cas9-mediated gene modification in porcine zygotes via electroporation. PLoS One 13:e0206360, 2018. Pubmed reference: 30352075. DOI: 10.1371/journal.pone.0206360.
2015 Schook, L.B., Collares, T.V., Hu, W., Liang, Y., Rodrigues, F.M., Rund, L.A., Schachtschneider, K.M., Seixas, F.K., Singh, K., Wells, K.D., Walters, E.M., Prather, R.S., Counter, C.M. :
A genetic porcine model of cancer. PLoS One 10:e0128864, 2015. Pubmed reference: 26132737. DOI: 10.1371/journal.pone.0128864.
2014 Sieren, J.C., Meyerholz, D.K., Wang, X.J., Davis, B.T., Newell, J.D., Hammond, E., Rohret, J.A., Rohret, F.A., Struzynski, J.T., Goeken, J.A., Naumann, P.W., Leidinger, M.R., Taghiyev, A., Van Rheeden, R., Hagen, J., Darbro, B.W., Quelle, D.E., Rogers, C.S. :
Development and translational imaging of a TP53 porcine tumorigenesis model. J Clin Invest 124:4052-66, 2014. Pubmed reference: 25105366. DOI: 10.1172/JCI75447.

Edit History

  • Created by Frank Nicholas on 13 Apr 2016
  • Changed by Frank Nicholas on 14 Aug 2016
  • Changed by Frank Nicholas on 08 Aug 2017
  • Changed by Imke Tammen2 on 16 Jun 2021
  • Changed by Imke Tammen2 on 25 Jun 2021
  • Changed by Imke Tammen2 on 18 Sep 2021