OMIA:000809-9615 : Polycythemia in Canis lupus familiaris (dog)

In other species: domestic cat , llama , taurine cattle

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 133100 (trait) , 263300 (trait) , 147796 (gene)

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 somatic 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]". IT IS IMPORTANT TO NOTE THAT THIS IS UNDERSTOOD TO BE A SOMATIC MUTATION, WHICH MEANS THAT THE VARIANT IS NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000809-9615: 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.

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.
1992 Quesnel, A.D., Kruth, S.A. :
Polycythemia vera and glomerulonephritis in a dog. Can Vet J 33:671-2, 1992. Pubmed reference: 17424094.
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.

Edit History


  • 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
  • Changed by Imke Tammen2 on 04 Jun 2023