OMIA:001138-9615 : Hypocatalasia in Canis lupus familiaris
In other species: domestic guinea pig
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614097 (trait) , 115500 (gene)
Links to MONDO diseases: No links.
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.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CAT||catalase||Canis lupus familiaris||18||NC_051822.1 (34033703..33993703)||CAT||Homologene, Ensembl , NCBI gene|
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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|
|49||American Foxhound Beagle||Hypocatalasia||CAT||missense||Naturally occurring variant||CanFam3.1||18||g.33397548C>T||c.979G>A||p.(A327T)||2000||11137458||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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 .|
- 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