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)s (MIM numbers): 600899 (gene) , 615966 (trait)

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_051833.1 (241975..20665) PRKDC 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 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

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