OMIA:001513-9823 : Leukaemia, chronic myelogenous in Sus scrofa (pig) |
In other species: dog
Categories: Neoplasm , Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 151410 (gene) , 189980 (gene) , 608232 (trait)
Single-gene trait/disorder: no
Mode of inheritance: Somatic mutation
Disease-related: yes
Key variant known: no
Key variant is published: no
Cross-species summary: Chronic myelogenous leukemia (CML) is a clonal proliferative disorder of a pluripotent stem cell (of myeloid, megakaryocyte, and erythroid and lymphoid lineages) with a specific cytogenetic abnormality. In humans, the disease is most frequently caused by a translocation between chromosomes 22 and 9, resulting in the fusion of the Abelson murine leukemia oncogene (ABL1) with the breakpoint cluster region (BCR). The resulting BCR/ABL fusion gene encodes a tyrosine kinase.
Species-specific name: Leukemia, chronic myeloid
Species-specific symbol: CML
Inheritance: Takawira et al. (2020) report "the presence of the BCR/ABL mutation and document progression of chronic myelogenous (basophilic) leukemia from a chronic phase to a terminal blast crisis in an adult Yucatan barrow. The natural occurrence and progression of CML associated with the BCR/ABL mutation in miniature swine establishes potential for future porcine models of human CML. The information also establishes a genetic test to confirm porcine CML to prevent inadvertent attribution of clinical signs to treatment complications during preclinical testing."
Genetic testing: Takawira et al. (2020) designed primers from the human forward ABL and reverse BCR sequences and conducted real-time quantitative PCR using reverse transcribed RNA as template. The BCR/ABL fusion gene was expressed at detectable levels only in the affected pig.
Breed:
Yucatan Miniature, United States of America (Pig) (VBO_0013234).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated genes:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
BCR | breakpoint cluster region | Sus scrofa | 14 | NC_010456.5 (49208662..49322109) | BCR | Homologene, Ensembl , NCBI gene |
ABL1 | ABL proto-oncogene 1, non-receptor tyrosine kinase | Sus scrofa | 1 | NC_010443.5 (270761641..270906708) | ABL1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001513-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
2020 | Takawira, C., Arsuaga-Zorrilla, C.B., Wilson, L., Taguchi, T., Dietrich, M.A., Stout, R.W., Lopez, M.J. : |
Association of chronic myelogenous (basophilic) leukemia and the BCR/ABL mutation in a Yucatan barrow (<i>Sus scrofa domestica</i>). Front Vet Sci 7:575199, 2020. Pubmed reference: 33251261. DOI: 10.3389/fvets.2020.575199. | |
2017 | Powell, E.J., Graham, J., Ellinwood, N.M., Hostetter, J., Yaeger, M., Ho, C.S., Gault, L., Norlin, V., Snella, E.N., Jens, J., Waide, E.H., Boettcher, A.N., Kerrigan, M., Rowland, R.R.R., Ross, J.W., Dekkers, J.C.M., Tuggle, C.K. : |
T cell lymphoma and leukemia in severe combined immunodeficiency pigs following bone marrow transplantation: A case report. Front Immunol 8:813, 2017. Pubmed reference: 28747915. DOI: 10.3389/fimmu.2017.00813. | |
2015 | Duran-Struuck, R., Matar, A.J., Huang, C.A. : |
Myeloid leukemias and virally induced lymphomas in miniature inbred swine: Development of a large animal tumor model. Front Genet 6:332, 2015. Pubmed reference: 26635868. DOI: 10.3389/fgene.2015.00332. | |
2010 | Duran-Struuck, R., Cho, P.S., Teague, A.G., Fishman, B., Fishman, A.S., Hanekamp, J.S., Moran, S.G., Wikiel, K.J., Ferguson, K.K., Lo, D.P., Duggan, M., Arn, J.S., Billiter, B., Horner, B., Houser, S., Yeap, B.Y., Westmoreland, S.V., Spitzer, T.R., McMorrow, I.M., Sachs, D.H., Bronson, R.T., Huang, C.A. : |
Myelogenous leukemia in adult inbred MHC-defined miniature swine: a model for human myeloid leukemias. Vet Immunol Immunopathol 135:243-56, 2010. Pubmed reference: 20079939. DOI: 10.1016/j.vetimm.2009.12.005. | |
2007 | Rafferty, A.L., Collett, M.G., Forsyth, S.F., Neumann, E.J., Suepaul, R.B. : |
Acute B-cell lymphoblastic leukaemia in a 5-month-old boar. N Z Vet J 55:244-7, 2007. Pubmed reference: 17928902. DOI: 10.1080/00480169.2007.36776. | |
2006 | Sipos, W., Gerner, W., Schilcher, F., Leeb, C., Groiss, S., Miller, I., Saalmüller, A., Schmoll, F., Schwendenwein, I. : |
Immunophenotypic characterization of peripheral blast cells in a leukemic miniature pig. Vet Pathol 43:362-7, 2006. Pubmed reference: 16672585. DOI: 10.1354/vp.43-3-362. | |
1987 | Kadota, K., Akutsu, H., Saito, M., Kudo, T., Gotoh, K. : |
Ultrastructure of swine myelogenous leukaemic cells, with particular reference to intracytoplasmic granules. J Comp Pathol 97:401-6, 1987. Pubmed reference: 3478353. DOI: 10.1016/0021-9975(87)90018-1. | |
Marcato, P.S. : | |
Swine lymphoid and myeloid neoplasms in Italy. Vet Res Commun 11:325-37, 1987. Pubmed reference: 3314113. DOI: 10.1007/BF00346191. | |
1969 | Migaki, G. : |
Hematopoietic neoplasms of slaughter animals. Natl Cancer Inst Monogr 32:121-51, 1969. Pubmed reference: 4981714. |
Edit History
- Created by Imke Tammen2 on 08 Dec 2020
- Changed by Imke Tammen2 on 08 Dec 2020
- Changed by Frank Nicholas on 10 Dec 2020
- Changed by Imke Tammen2 on 23 Feb 2021