OMIA:000220-9615 : Severe combined immunodeficiency disease, autosomal in Canis lupus familiaris
In other species: horse
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600899 (gene) , 615966 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2002
Species-specific name: Combined immunodeficiency disease
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Ding et al. (2002) identied a causal mutation in the canine DNA-PKcs gene as "a point mutation [which] results in a stop codon at nucleotide 10,828 and premature termination at a position 517 amino acids before the normal C terminus resulting in a functionally null allele". The gene is now called PRKDC in dogs and DNAPK in horses (in which the same disorder is due to mutations in the homologous gene).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PRKDC||protein kinase, DNA-activated, catalytic polypeptide||Canis lupus familiaris||29||NC_051833.1 (241975..20665)||PRKDC||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|
|283||Jack Russell Terrier||Severe combined immunodeficiency disease, autosomal||PRKDC||nonsense (stop-gain)||Naturally occurring variant||CanFam3.1||29||g.49588C>A||c.10849G>T||p.(E3617*)||NM_001006651.2; NP_001006652.2 ; published as c.10879G>T; p.(E3627*); coordinates in the table have been updated to a recent reference genome and / or transcript||2002||11867233|
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.
|2009||Meek, K., Jutkowitz, A., Allen, L., Glover, J., Convery, E., Massa, A., Mullaney, T., Stanley, B., Rosenstein, D., Bailey, SM., Johnson, C., Georges, G. :|
|SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice. J Immunol 183:2529-36, 2009. Pubmed reference: 19635917 . DOI: 10.4049/jimmunol.0801406.|
|2002||Bell, T.G., Butler, K.L., Sill, H.B., Stickle, J.E., Ramos-Vara, J.A., Dark, M.J. :|
|Autosomal recessive severe combined immunodeficiency of Jack Russell Terriers Journal of Veterinary Diagnostic Investigation 14:194-204, 2002. Pubmed reference: 12033674 .|
|Ding, Q., Bramble, L., Yuzbasiyan-Gurkan, V., Bell, T., Meek, K. :|
|DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002. Pubmed reference: 11867233 .|
|2001||Meek, K., Kienker, L., Dallas, C., Wang, W., Dark, MJ., Venta, PJ., Huie, ML., Hirschhorn, R., Bell, T. :|
|SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency. J Immunol 167:2142-50, 2001. Pubmed reference: 11489998 .|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 20 Sep 2012