OMIA 000156-9986 : C8 deficiency in Oryctolagus cuniculus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 120950

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: no

Cross-species summary: Complement component 8 consists of three peptides: the alpha, beta and gamma chains, each encoded by a separate locus. The alpha and beta chains are bound covalently through a disulphide link, forming the alpha-gamma subunit, which is non-covalently (i.e. weakly) associated with the beta chain. Disorders resulting from deficiency of the alpha-gamma subunit are called C8 deficiency, or C8 deficiency, type I; disorders resulting from deficiency of the beta chain are called C8 deficiency, type II.

Species-specific symbol: C8D

Species-specific description: C8 deficiency was discovered in a line of rabbits undergoing selection for high and low total complement haemolytic activity (Komatsu, 1985). Both the alpha and gamma genes are transcribed, producing normal quantities of mRNA. However, the mature mRNA from the alpha gene of C8-deficient rabbits includes a 93-bp intron, suggesting that the disorder is due to a mutation at an exon/intron junction (Komatsu, 1992). Sequencing of mutant and normal genes is underway, to determining the exact mutation.

Clinical features: dwarfism (non-pituitary); small litter size; small thymus; low survival rate; severely reduced bactericidal activity; enhanced delayed-type hypersensitivity

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
C8A complement component 8, alpha polypeptide Oryctolagus cuniculus 13 NC_013681.1 (110036188..109972216) C8A Homologene, Ensembl, NCBI gene

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.
1992 Komatsu, M. :
Molecular Biology for Genetic Deficiencies of Complement Components in Rabbits - C8alpha-gamma Deficiency and C3- Hypocomplementemia JARQ - Japan Agricultural Research Quarterly 26:48-54, 1992.
1991 Komatsu, M., Yamamoto, K., Mikami, H., Sodetz, J.M. :
Genetic Deficiency of Complement Component-C8 in the Rabbit - Evidence of a Translational Defect in Expression of the alpha-gamma Subunit Biochemical Genetics 29:271-274, 1991. Pubmed reference: 1772398.
1990 Komatsu, M., Imaoka, K., Satoh, M., Mikami, H. :
Hereditary C8-Alpha-Gamma Deficiency Associated with Dwarfism in the Rabbit Journal of Heredity 81:413-417, 1990.
1985 Komatsu, M. :
A method for developing hereditary deficiency of complement component in the rabbit Experimental Animals 34:173-182, 1985. Pubmed reference: 4018150.
Komatsu, M., Yamamoto, K., Kawashima, T., Migita, S. :
Genetic deficiency of the alpha-gamma subunit of the eighth complement component in rabbits Journal of Immunology 134:2607-2609, 1985. Pubmed reference: 3973389.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Jun 2013