OMIA 000155-9615 : C3 deficiency in Canis lupus familiaris

In other species: rabbit , domestic guinea pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613779

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1998

Cross-species summary: Complement component 3 consists of two chains, alpha and beta, linked covalently by disulphide bonds. In humans and mice (and therefore presumably in all mammals), the two chains are encoded by a single gene (the C3 gene).

Species-specific description: Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis.

Molecular basis: The first report of the molecular basis of this disorder was by Ameratunga et al. (1998) who, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human and mouse disorders) in a colony of Brittany dogs segregating for C3 deficiency, identified a frameshift due to "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream".

Breed: Brittany Spaniel.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
C3 complement component 3 Canis lupus familiaris 20 NC_006602.3 (53566226..53598365) C3 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 required column headers

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
Brittany Spaniel C3 deficiency C3 deletion, small (<=20) "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream" 1998 9510185

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.
2010 Gerber, B., Eichenberger, S., Joller-Jemelka, H.I., Wittenbrink, M.M., Reusch, C.E. :
Complement C3 in Bernese Mountain dogs. Vet Clin Pathol 39:164-8, 2010. Pubmed reference: 20003027. DOI: 10.1111/j.1939-165X.2009.00205.x.
2008 Aresu, L., Pregel, P., Bollo, E., Palmerini, D., Sereno, A., Valenza, F. :
Immunofluorescence staining for the detection of immunoglobulins and complement (C3) in dogs with renal disease. Vet Rec 163:679-82, 2008. Pubmed reference: 19060316.
2006 Acierno, M.J., Labato, M.A., Stern, L.C., Mukherjee, J., Jakowski, R.M., Ross, L.A. :
Serum concentrations of the third component of complement in healthy dogs and dogs with protein-losing nephropathy. Am J Vet Res 67:1105-9, 2006. Pubmed reference: 16817728. DOI: 10.2460/ajvr.67.7.1105.
1998 Ameratunga, R., Winkelstein, J.A., Brody, L., Binns, M., Cork, L.C., Colombani, P., Valle, D. :
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J Immunol 160:2824-30, 1998. Pubmed reference: 9510185.
1994 Singer, L., Colten, H.R., Wetsel, R.A. :
Complement C3 deficiency: human, animal, and experimental models. Pathobiology 62:14-28, 1994. Pubmed reference: 8031472.
1993 Botto, M., Walport, M.J. :
Hereditary deficiency of C3 in animals and humans. Int Rev Immunol 10:37-50, 1993. Pubmed reference: 8340676.
Molleda, J.M., Lucena, R., López, R., Novales, M., Moreno, P., Ginel, P.J. :
Effect of age on serum concentrations of the third component of complement in dogs. Zentralbl Veterinarmed B 40:409-12, 1993. Pubmed reference: 8284953.
1991 Cork, L.C., Morris, J.M., Olson, J.L., Krakowka, S., Swift, A.J., Winkelstein, J.A. :
Membranoproliferative Glomerulonephritis in Dogs with a Genetically Determined Deficiency of the Third Component of Complement Clinical Immunology and Immunopathology 60:455-470, 1991. Pubmed reference: 1864020.
1989 Porter, R.E., Weiser, M.G., Callahan, G.N. :
Development of an enzyme-linked immunosorbent assay to detect IgG, IgM, and complement (C3) on canine erythrocytes. Am J Vet Res 50:1365-9, 1989. Pubmed reference: 2782718.
1988 O'Neil, K.M., Ochs, H.D., Heller, S.R., Cork, L.C., Morris, J.M., Winkelstein, J.A. :
Role of C3 in humoral immunity. Defective antibody production in C3-deficient dogs. J Immunol 140:1939-45, 1988. Pubmed reference: 3346548.
1987 Johnson, J.P. :
C3-like activity in C3-deficient dog serum. Complement 4:53-60, 1987. Pubmed reference: 3105954.
1986 Johnson, J.P., McLean, R.H., Cork, L.C., Winkelstein, J.A. :
Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs American Journal of Medical Genetics 25:557-562, 1986. Pubmed reference: 3789016. DOI: 10.1002/ajmg.1320250319.
Winkelstein, J.A., Johnson, J.P., O'Neil, K.M., Cork, L.C. :
Dogs deficient in C3. Prog Allergy 39:159-68, 1986. Pubmed reference: 3562462.
1985 Blum, J.R., Cork, L.C., Morris, J.M., Olson, J.L., Winkelstein, J.A. :
The clinical manifestations of a genetically determined deficiency of the third component of complement in the dog. Clin Immunol Immunopathol 34:304-15, 1985. Pubmed reference: 2982527.
Johnson, J.P., Hammer, C.H., Winkelstein, J.A. :
Purification of the third component of canine complement. Vet Immunol Immunopathol 8:377-89, 1985. Pubmed reference: 4002610.
Kay, P.H., Dawkins, R.L., Penhale, J.W. :
The molecular structure of different polymorphic forms of canine C3 and C4. Immunogenetics 21:313-9, 1985. Pubmed reference: 3997206.
1983 Garthwaite, G., Lloyd, D.H., Thomsett, L.R. :
Location of immunoglobulins and complement (C3) at the surface and within the skin of dogs. J Comp Pathol 93:185-93, 1983. Pubmed reference: 6345600.
1982 Winkelstein, J.A., Johnson, J.P., Swift, A.J., Ferry, F., Yolken, R., Cork, L.C. :
Genetically determined deficiency of the third component of complement in the dog: in vitro studies on the complement system and complement-mediated serum activities. J Immunol 129:2598-602, 1982. Pubmed reference: 7142701.
1981 Winkelstein, J.A., Cork, L.C., Griffin, D.E., Griffin, J.W., Adams, R.J., Price, D.L. :
Genetically determined deficiency of the third component of complement in the dog. Science 212:1169-70, 1981. Pubmed reference: 7233211.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 03 Sep 2012
  • Changed by Frank Nicholas on 24 Sep 2013