OMIA:000809-9615 : Polycythemia in Canis lupus familiaris
In other species: domestic cat , llama , cattle
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 133100 (trait) , 263300 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Somatic mutation
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Cross-species summary: also known as erythrocytosis, high concentration of red blood cells in the blood
Molecular basis: Using the comparative candidate gene strategy (based on the same clinical signs in humans being due to mutations in the JAK2 gene), Beurlet et al. (2011) sequenced exon 14 of the canine JAK2 gene in five affected dogs (a female "crossbred", a male Maltese, a female Poodle, a female Yorkshire, and a female "Westie") and discovered a possible causal triple-mutation variant (c.1849G>T, c.1852T>C, c.1853G>T; p.V617F, p.C618L) in just one dog (the "crossbred"), the other four having only wild-type sequence.
The authors suggested that the mutations were acquired as somatic mutations (genetic mosaicism) based on differences in sequencing results in DNA extracted from blood and a buccal swab.
Evidence that this variant is likely to be causal was based on (a) This same variant (at the peptide level) is causal in humans; and (b) "Transfection of BaF3 cells with the triple mutant cDNA, but not with the wild-type complementary DNA, resulted in cytokine-independent growth and constitutive signal transducer and activation of transcription 5 phosphorylation". As the authors note, the fact that four of the five affected dogs do not have the likely causal variant indicates that "we cannot exclude the presence of different mutations of JAK2 or mutations of proteins upstream or downstream of JAK2. . . . alternate mutations may be found in JAK-STAT regulating pathways, such as reported in the LNK gene [in humans]". The fact that the five sequenced dogs are a cross between un-named breeds and one each of four different breeds, explains why the likely causal variant was seen in only one dog. Given the lack of knowledge of the breeds involved in the crossbred dog, and the lack of the likely causal variant in the other four dogs, it can be concluded that testing for this particular variant will not be particularly effective in any breed until further information is obtained on the distribution and effect of this variant.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|JAK2||Janus kinase 2||Canis lupus familiaris||1||NC_051805.1 (93940875..93989640)||JAK2||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|739||Polycythemia||JAK2||delins, small (<=20)||Naturally occurring variant||CanFam3.1||1||g.93416506_93416510delinsTTCCT||c.1849_1853delinsTTCCT||p.(V617_C618delinsFL)||XM_022421838.1; XP_022277546.1; published as a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L, SOMATIC MUTATION/MOSAICISM||2011||21320566|
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.
|2011||Beurlet, S., Krief, P., Sansonetti, A., Briend-Marchal, A., Kiladjian, JJ., Padua, RA., Chomienne, C., Cassinat, B. :|
|Identification of JAK2 mutations in canine primary polycythemia. Exp Hematol 39:542-5, 2011. Pubmed reference: 21320566 . DOI: 10.1016/j.exphem.2011.02.003.|
|1998||Faissler, D., Griotwenk, M.E., Fatzer, R., Vontscharner, C., Aberlethiemann, B., Jaggy, A. :|
|Seizures due to polycythemia - review of literature and case report [Review] [German] Schweizer Archiv fur Tierheilkunde 140:101-109, 1998. Pubmed reference: 9528346 .|
|1997||Vanvonderen, I.K., Meyer, H.P., Kraus, J.S., Kooistra, H.S. :|
|Polyuria and polydipsia and disturbed vasopressin release in 2 dogs with secondary polycythemia Journal of Veterinary Internal Medicine 11:300-303, 1997. Pubmed reference: 9348498 .|
|1959||Donovan, E.F., Loeb, W.F. :|
|Polycythemia rubra vera in the dog Journal of the American Veterinary Medical Association 134:36-37, 1959. Pubmed reference: 13610760 .|
- Created by Frank Nicholas on 03 Jul 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 28 Mar 2017
- Changed by Imke Tammen2 on 11 Feb 2022