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)

Mendelian 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: