OMIA 000220-9615 : Severe combined immunodeficiency disease, autosomal in Canis lupus familiaris |
In other species:
horse
Possibly relevant human trait(s) and/or gene(s) (MIM number):
600899
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PRKDC | protein kinase, DNA-activated, catalytic polypeptide | Canis lupus familiaris | 29 | NC_006611.3 (243926..24904) | PRKDC | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Jack Russell Terrier | Severe combined immunodeficiency disease, autosomal | PRKDC | nonsense (stop-gain) | c.10879G>T | p.E3627* | 2002 | 11867233 |
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.
| 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. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 20 Sep 2012