Harrier — Hypocatalasia (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Harrier (Dog)Disorder:Mode of inheritance: Autosomal- `Clin feat: Catalase is an enzyme responsible for breaking down reactive oxygen species. As there are other enzymes able to fulfil this role, hypocatalasia often has no clinical signs. Hypocatalasia has been associated with ulcers of the oral cavity leading to gangrene, a condition known as “Takahara disease” in humans (Fukuda et al., 1982). The pathogenesis of this disease is explained by some oral bacteria producing hydrogen peroxide, which is unable to be decomposed due to catalase deficiency (Ogata et al. 2008). leading to the substitution of alanine(327) (GCT) by threonine (ACT)".
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2000. 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 — PubMed:PMID11137458 — OMIA Phene_Article / Article
- 1967. The dog as an example of acatalasemia or hypocatalasemia. ANL-7409. ANL Rep — PubMed:PMID5308206 — OMIA Phene_Article / Article
- 2000. Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol — PubMed:PMID10661897 — OMIA Phene_Article / Article
- 1999. Tissue and organ expression of catalase in acatalasemic beagle dogs. Exp Anim — PubMed:PMID10591001 — OMIA Phene_Article / Article
- 2008. Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. Acta Med Okayama — PubMed:PMID19122680 — OMIA Phene_Article / Article
- 2016. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One — PubMed:PMID27525650 | DOI:10.1371/journal.pone.0161005 — OMIA Phene_Article / Article
- 1982. Catalase activity of erythrocytes from beagle dog: an appearance of hereditary acatalasemia. Acta Histochem. Cytochem. — OMIA Phene_Article / Article
- 2018. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet — PubMed:PMID29708978 | DOI:10.1371/journal.pgen.1007361 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:614097 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:115500 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."