OMIA 001138-9615 : Hypocatalasia in Canis lupus familiaris

In other species: domestic guinea pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 614097

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Cross-species summary: Also known as acatalasemia.

Molecular basis: By cloning and sequencing a very likely candidate gene (based on knowledge of the biochemical and physiological properties of the enzyme catalase in affected dogs), Nakamura et al. (2000) reported that the canine disorder in Beagles is due to a missense mutation [in the catalase gene (CAT),] leading to the substitution of alanine(327) (GCT) by threonine (ACT)".

Prevalence: Noting that the original discovery of the likely causal variant (c.979G>A; p.Ala327Thr) was in a Beagle colony, Donner et al. (2016) reported that "To our knowledge, presence and manifestation of acatalasemia due to the aforementioned CAT variant has not been previously documented in the pet Beagle population. We therefore note that we identified pet Beagle carriers, and a tenmonth-old mutant homozygous Beagle through panel screening. During this investigation, the genetically affected Beagle developed gangrene of the oral cavity leading to the removal of three teeth at the age of eighteen months, which could be a manifestation of acatalasemia".

Donner et al. (2016) reported heterozygosity for the same c.979G>A (p.Ala327Thr) variant in one American Foxhound.

Breeds: American Foxhound, Beagle.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CAT catalase Canis lupus familiaris 18 NC_006600.3 (33422447..33383005) CAT 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
American Foxhound Beagle Hypocatalasia CAT missense CanFam3.1 18 g.33397548G>A c.979G>A p.A327T 2000 11137458 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2016 Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H. :
Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
2008 Ogata, M., Wang, D.H., Ogino, K. :
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. Acta Med Okayama 62:345-61, 2008. Pubmed reference: 19122680.
2000 Nakamura, K., Watanabe, M., Sasaki, Y., Ikeda, T. :
Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol 32:89-98, 2000. Pubmed reference: 10661897.
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. :
cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed reference: 11137458.
1999 Nakamura, K., Watanabe, M., Ikeda, T., Sasaki, Y., Matsunuma, N. :
Tissue and organ expression of catalase in acatalasemic beagle dogs. Exp Anim 48:229-34, 1999. Pubmed reference: 10591001.
1982 [No authors listed] :
Catalase activity of erythrocytes from beagle dog: an appearance of hereditary acatalasemia Acta Histochem. Cytochem. 15:685–690, 1982.
1967 Feinstein, R.N., Braun, J.T., Howard, J.B. :
The dog as an example of acatalasemia or hypocatalasemia. ANL-7409. ANL Rep :122, 1967. Pubmed reference: 5308206.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 21 Aug 2016